** The changes listed below correspond to bug fixing, also a general replacement of the relation agent_of for the RO relation agent_in, Sequence Ontology term updates, and also re-writing of some definitions (meaning is not changed, just better descriptions are provided)


2c2
< date: 22:05:2008 11:22
---
> date: 28:05:2008 12:15
4c4
< auto-generated-by: OBO-Edit 1.100
---
> auto-generated-by: OBO-Edit 1.101
94c94
< def: "A protein with a core domain composition consisting of a variable propeptide region and a transforming growth factor beta like domain, that is a cysteine-knot domain containing four conserved beta strands, S1-S4, which form two antiparallel beta sheets (SI-S2 and S3-S4) interconnected by three disulfide bridges in a knot-like topology. Cystines [II-V] and [III-VI] form a ring through which the remaining disulfide bond (Cys[I-IV]) penetrates. Insertion of different variable regions into this common motif has given rise to various subclasses of the growth factor cystine-knot domain." [PRO:CNA]
---
> def: "A protein with a core domain composition consisting of a signal peptide, a variable propeptide region and a transforming growth factor beta like domain, that is a cysteine-knot domain containing four conserved beta strands, S1-S4, which form two antiparallel beta sheets (SI-S2 and S3-S4) interconnected by three disulfide bridges in a knot-like topology. Cystines [II-V] and [III-VI] form a ring through which the remaining disulfide bond (Cys[I-IV]) penetrates. Insertion of different variable regions into this common motif has given rise to various subclasses of the growth factor cystine-knot domain." [PRO:CNA]
546c546
< def: "A TGFB-like cysteine-knot cytokine with a signal peptide, a propeptide, and a cysteine-knot domain. This protein is related to the activin/inhibin, anti-Muellerian hormone, and bone morphogenic protein families, which are all involved in the regulation of cell growth and differentiation." [PIRSF:PIRSF001787]
---
> def: "A TGFB-like cysteine-knot cytokine whose propeptide region is a latent associated peptide (LAP) that remains associated to the mature TGF-beta after cleavage and secretion, keeping TGF-beta inactive. TGF-beta is the founding member of the cysteine-knot cytokine family, and is related to the activin/inhibin, anti-Muellerian hormone, and bone morphogenic protein families, which are all involved in the regulation of cell growth and differentiation." [PIRSF:PIRSF001787]
587,589c587,589
< comment: GO:0005026 "NOT has_function transforming growth factor beta receptor activity, type II".\nMIM:154705 "agent_of MARFAN SYNDROME, TYPE II".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:154705 "agent_of MARFAN SYNDROME, TYPE II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: GO:0005026 "NOT has_function transforming growth factor beta receptor activity, type II".\nMIM:154705 "agent_in MARFAN SYNDROME, TYPE II".\nSO:1000093 "has_agent mutation_causing_mutation_causing_amino_acid_substitution".
> xref: MIM:154705 "agent_in MARFAN SYNDROME, TYPE II"
> xref: SO:1000093 "has_agent mutation_causing_mutation_causing_amino_acid_substitution"
596,598c596,598
< comment: MIM:608967 "agent_of AORTIC ANEURYSM, FAMILIAL THORACIC 3".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:608967 "agent_of AORTIC ANEURYSM, FAMILIAL THORACIC 3"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:608967 "agent_in AORTIC ANEURYSM, FAMILIAL THORACIC 3".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:608967 "agent_in AORTIC ANEURYSM, FAMILIAL THORACIC 3"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
605,607c605,607
< comment: MIM:608967 "agent_of AORTIC ANEURYSM, FAMILIAL THORACIC 3".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:608967 "agent_of AORTIC ANEURYSM, FAMILIAL THORACIC 3"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:608967 "agent_in AORTIC ANEURYSM, FAMILIAL THORACIC 3".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:608967 "agent_in AORTIC ANEURYSM, FAMILIAL THORACIC 3"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
614,616c614,616
< comment: GO:0005026 "NOT has_function transforming growth factor beta receptor activity, type II".\nMIM:133239 "agent_of ESOPHAGEAL CANCER".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:133239 "agent_of ESOPHAGEAL CANCER"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: GO:0005026 "NOT has_function transforming growth factor beta receptor activity, type II".\nMIM:133239 "agent_in ESOPHAGEAL CANCER".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:133239 "agent_in ESOPHAGEAL CANCER"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
623,625c623,625
< comment: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
632,634c632,634
< comment: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
641,643c641,643
< comment: GO:0005026 "NOT has_function transforming growth factor beta receptor activity, type II".\nMIM:154705 "agent_of MARFAN SYNDROME, TYPE II".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:154705 "agent_of MARFAN SYNDROME, TYPE II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: GO:0005026 "NOT has_function transforming growth factor beta receptor activity, type II".\nMIM:154705 "agent_in MARFAN SYNDROME, TYPE II".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:154705 "agent_in MARFAN SYNDROME, TYPE II"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
650,652c650,652
< comment: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
659c659
< comment: GO:0008284 "participates_in positive regulation of cell proliferation".\nMIM:190182 "agent_of COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0008284 "participates_in positive regulation of cell proliferation".\nMIM:190182 "agent_in COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
661,662c661,662
< xref: MIM:190182 "agent_of COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:190182 "agent_in COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
669,671c669,671
< comment: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
678c678
< comment: GO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".\nGO:0016021 "located_in integral to membrane".\nMIM:609192 "agent_of LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".\nGO:0016021 "located_in integral to membrane".\nMIM:609192 "agent_in LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
681,682c681,682
< xref: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
689c689
< comment: Involved in BREAST TUMOR. UniProtKB:VAR_022355.\nGO:0005026 "has_function (decreased) transforming growth factor beta receptor activity, type II".\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".\nGO:0016021 "located_in integral to membrane".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: Involved in BREAST TUMOR. UniProtKB:VAR_022355.\nGO:0005026 "has_function (decreased) transforming growth factor beta receptor activity, type II".\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".\nGO:0016021 "located_in integral to membrane".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
693c693
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
700c700
< comment: Involved in BREAST TUMOR. UniProtKB:VAR_022356.\nGO:0005026 "has_function (decreased) transforming growth factor beta receptor activity, type II".\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: Involved in BREAST TUMOR. UniProtKB:VAR_022356.\nGO:0005026 "has_function (decreased) transforming growth factor beta receptor activity, type II".\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
703c703
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
710c710
< comment: GO:0005026 "has_function (decreased) transforming growth factor beta receptor activity, type II".\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".\nGO:0016021 "located_in integral to membrane".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0005026 "has_function (decreased) transforming growth factor beta receptor activity, type II".\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".\nGO:0016021 "located_in integral to membrane".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
714c714
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
721,723c721,723
< comment: GO:0005026 "NOT has_function transforming growth factor beta receptor activity, type II".\nMIM:154705 "agent_of MARFAN SYNDROME, TYPE II".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:154705 "agent_of MARFAN SYNDROME, TYPE II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: GO:0005026 "NOT has_function transforming growth factor beta receptor activity, type II".\nMIM:154705 "agent_in MARFAN SYNDROME, TYPE II".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:154705 "agent_in MARFAN SYNDROME, TYPE II"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
730c730
< comment: Involved in BREAST TUMOR. UniProtKB:VAR_022359.\nGO:0005026 "has_function (decreased) transforming growth factor beta receptor activity, type II".\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: Involved in BREAST TUMOR. UniProtKB:VAR_022359.\nGO:0005026 "has_function (decreased) transforming growth factor beta receptor activity, type II".\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
733c733
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
838,840c838,840
< comment: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
847,849c847,849
< comment: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
856,858c856,858
< comment: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
865,867c865,867
< comment: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
874,876c874,876
< comment: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
883,885c883,885
< comment: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
892,894c892,894
< comment: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
901,903c901,903
< comment: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
910,911c910,911
< comment: SO:1000097 "has_agent amino_acid_deletion".
< xref: SO:1000097 "has_agent amino_acid_deletion"
---
> comment: SO:1000097 "has_agent mutation_causing_amino_acid_deletion".
> xref: SO:1000097 "has_agent mutation_causing_amino_acid_deletion"
1127,1129c1127,1129
< comment: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1136,1138c1136,1138
< comment: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1145,1148c1145,1148
< comment: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL".\nMIM:186570 "agent_of TARSAL-CARPAL COALITION SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL"
< xref: MIM:186570 "agent_of TARSAL-CARPAL COALITION SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".\nMIM:186570 "agent_in TARSAL-CARPAL COALITION SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL"
> xref: MIM:186570 "agent_in TARSAL-CARPAL COALITION SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1155,1157c1155,1157
< comment: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1164,1166c1164,1166
< comment: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1173,1175c1173,1175
< comment: MIM:186570 "agent_of TARSAL-CARPAL COALITION SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:186570 "agent_of TARSAL-CARPAL COALITION SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:186570 "agent_in TARSAL-CARPAL COALITION SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:186570 "agent_in TARSAL-CARPAL COALITION SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1182,1184c1182,1184
< comment: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1191,1193c1191,1193
< comment: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1200,1203c1200,1203
< comment: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL".\nMIM:186570 "agent_of TARSAL-CARPAL COALITION SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL"
< xref: MIM:186570 "agent_of TARSAL-CARPAL COALITION SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".\nMIM:186570 "agent_in TARSAL-CARPAL COALITION SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL"
> xref: MIM:186570 "agent_in TARSAL-CARPAL COALITION SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1210,1212c1210,1212
< comment: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:185800 "agent_of SYMPHALANGISM, PROXIMAL"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1388,1390c1388,1390
< comment: MIM:174900 "agent_of JUVENILE POLYPOSIS SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:174900 "agent_of JUVENILE POLYPOSIS SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1397,1399c1397,1399
< comment: MIM:174900 "agent_of JUVENILE POLYPOSIS SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:174900 "agent_of JUVENILE POLYPOSIS SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1406,1408c1406,1408
< comment: MIM:174900 "agent_of JUVENILE POLYPOSIS SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:174900 "agent_of JUVENILE POLYPOSIS SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1415,1417c1415,1417
< comment: MIM:174900 "agent_of JUVENILE POLYPOSIS SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:174900 "agent_of JUVENILE POLYPOSIS SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1424,1426c1424,1426
< comment: MIM:158350 "agent_of COWDEN DISEASE".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:158350 "agent_of COWDEN DISEASE"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:158350 "agent_in COWDEN DISEASE".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:158350 "agent_in COWDEN DISEASE"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1433,1435c1433,1435
< comment: MIM:174900 "agent_of JUVENILE POLYPOSIS SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:174900 "agent_of JUVENILE POLYPOSIS SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1442,1444c1442,1444
< comment: MIM:174900 "agent_of JUVENILE POLYPOSIS SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:174900 "agent_of JUVENILE POLYPOSIS SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1451,1453c1451,1453
< comment: MIM:174900 "agent_of JUVENILE POLYPOSIS SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:174900 "agent_of JUVENILE POLYPOSIS SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1472c1472
< comment: GO:0004674 "NOT has_function protein serine/threonine kinase activity [PMID:14523231, TaxID:9606]".\nGO:0009986 "located_in cell surface [PMID:14523231, TaxID:9606]".\nMIM:112600 "agent_of BRACHYDACTYLY, TYPE A2".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0004674 "NOT has_function protein serine/threonine kinase activity [PMID:14523231, TaxID:9606]".\nGO:0009986 "located_in cell surface [PMID:14523231, TaxID:9606]".\nMIM:112600 "agent_in BRACHYDACTYLY, TYPE A2".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
1474,1475c1474,1475
< xref: MIM:112600 "agent_of BRACHYDACTYLY, TYPE A2"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:112600 "agent_in BRACHYDACTYLY, TYPE A2"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1482c1482
< comment: GO:0004674 "has_function protein serine/threonine kinase activity [PMID:14523231, TaxID:9606]".\nGO:0009986 "located_in cell surface [PMID:14523231, TaxID:9606]".\nMIM:112600 "agent_of BRACHYDACTYLY, TYPE A2".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0004674 "has_function protein serine/threonine kinase activity [PMID:14523231, TaxID:9606]".\nGO:0009986 "located_in cell surface [PMID:14523231, TaxID:9606]".\nMIM:112600 "agent_in BRACHYDACTYLY, TYPE A2".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
1485,1486c1485,1486
< xref: MIM:112600 "agent_of BRACHYDACTYLY, TYPE A2"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:112600 "agent_in BRACHYDACTYLY, TYPE A2"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1505,1507c1505,1507
< comment: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1514,1516c1514,1516
< comment: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1523,1525c1523,1525
< comment: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1532,1534c1532,1534
< comment: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1541,1543c1541,1543
< comment: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1550,1552c1550,1552
< comment: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1559,1561c1559,1561
< comment: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1568,1570c1568,1570
< comment: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1577,1579c1577,1579
< comment: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1586,1588c1586,1588
< comment: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1595,1597c1595,1597
< comment: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1604,1606c1604,1606
< comment: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1613,1615c1613,1615
< comment: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1622,1624c1622,1624
< comment: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:178600 "agent_of PULMONARY HYPERTENSION, PRIMARY"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1819c1819
< def: "A TGF-beta that is product of TGFB1 gene." [PRO:CNA]
---
> def: "A TGF-beta that is a translation product of the TGFB1 gene." [PRO:CNA]
1854,1856c1854,1856
< comment: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1872c1872
< comment: GO:0007165 "participates_in signal transduction [PMID:9661882, TaxID:9606]".\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:9661882]".\nSO:1000097 "has_agent amino_acid_deletion".
---
> comment: GO:0007165 "participates_in signal transduction [PMID:9661882, TaxID:9606]".\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:9661882]".\nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
1876c1876
< xref: SO:1000097 "has_agent amino_acid_deletion"
---
> xref: SO:1000097 "has_agent mutation_causing_amino_acid_deletion"
1883,1885c1883,1885
< comment: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1892,1895c1892,1895
< comment: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME".\nMIM:610168 "agent_of FURLONG SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution [VAR_029482:S -> L (241), TaxID:9606]".
< xref: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME"
< xref: MIM:610168 "agent_of FURLONG SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".\nMIM:610168 "agent_in FURLONG SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution [VAR_029482:S -> L (241), TaxID:9606]".
> xref: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME"
> xref: MIM:610168 "agent_in FURLONG SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1902,1904c1902,1904
< comment: MIM:154705 "agent_of MARFAN SYNDROME, TYPE II".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:154705 "agent_of MARFAN SYNDROME, TYPE II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:154705 "agent_in MARFAN SYNDROME, TYPE II".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:154705 "agent_in MARFAN SYNDROME, TYPE II"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1911,1913c1911,1913
< comment: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1920,1922c1920,1922
< comment: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1929,1931c1929,1931
< comment: MIM:130050 "agent_of EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:130050 "agent_of EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:130050 "agent_in EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:130050 "agent_in EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1938,1941c1938,1941
< comment: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME".\nMIM:610380 "agent_of AORTIC ANEURYSM, FAMILIAL THORACIC 5".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:609192 "agent_of LOEYS-DIETZ SYNDROME"
< xref: MIM:610380 "agent_of AORTIC ANEURYSM, FAMILIAL THORACIC 5"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".\nMIM:610380 "agent_in AORTIC ANEURYSM, FAMILIAL THORACIC 5".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:609192 "agent_in LOEYS-DIETZ SYNDROME"
> xref: MIM:610380 "agent_in AORTIC ANEURYSM, FAMILIAL THORACIC 5"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1948,1950c1948,1950
< comment: MIM:130050 "agent_of EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT".\nSO:1000093 "has_agent amino_acid_substitution [VAR_029485:R -> W (487), TaxID:9606]".
< xref: MIM:130050 "agent_of EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:130050 "agent_in EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:130050 "agent_in EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
1977c1977
< comment: GO:0005887 "located_in integral to plasma membrane [PMID:8397373, TaxID:9606]".\nMIM:135100 "agent_of FIBRODYSPLASIA OSSIFICANS PROGRESSIVA".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0005887 "located_in integral to plasma membrane [PMID:8397373, TaxID:9606]".\nMIM:135100 "agent_in FIBRODYSPLASIA OSSIFICANS PROGRESSIVA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
1979,1980c1979,1980
< xref: MIM:135100 "agent_of FIBRODYSPLASIA OSSIFICANS PROGRESSIVA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:135100 "agent_in FIBRODYSPLASIA OSSIFICANS PROGRESSIVA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2095,2097c2095,2097
< comment: MIM:602730 "agent_of LEFT-RIGHT AXIS MALFORMATIONS [PMID:9916847, TaxID:9606]".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:602730 "agent_of LEFT-RIGHT AXIS MALFORMATIONS"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:602730 "agent_in LEFT-RIGHT AXIS MALFORMATIONS [PMID:9916847, TaxID:9606]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:602730 "agent_in LEFT-RIGHT AXIS MALFORMATIONS"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2104,2106c2104,2106
< comment: MIM:602730 "agent_of LEFT-RIGHT AXIS MALFORMATIONS [PMID:9916847, TaxID:9606]".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:602730 "agent_of LEFT-RIGHT AXIS MALFORMATIONS"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:602730 "agent_in LEFT-RIGHT AXIS MALFORMATIONS [PMID:9916847, TaxID:9606]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:602730 "agent_in LEFT-RIGHT AXIS MALFORMATIONS"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2156,2158c2156,2158
< comment: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2165,2167c2165,2167
< comment: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2174,2176c2174,2176
< comment: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2183,2185c2183,2185
< comment: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2192,2194c2192,2194
< comment: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2201c2201
< comment: GO:0044424 "located_in intracellular part [PMID:8162013, TaxID:9606; PMID:14673134, TaxID:9606]".\nMIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent amino_acid_substitution".\nSO:1000103 "has_agent mutation_decreasing_level_of_translation_product".\nSO:1000121 "has_agent polypeptide_localization_affected".
---
> comment: GO:0044424 "located_in intracellular part [PMID:8162013, TaxID:9606; PMID:14673134, TaxID:9606]".\nMIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".\nSO:1000103 "has_agent mutation_decreasing_level_of_translation_product".\nSO:1000121 "has_agent mutation_causing_polypeptide_localization_change".
2203,2204c2203,2204
< xref: MIM:261550 "agent_of PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2206c2206
< xref: SO:1000121 "has_agent polypeptide_localization_affected"
---
> xref: SO:1000121 "has_agent mutation_causing_polypeptide_localization_change"
2213c2213
< comment: GO:0044424 "located_in intracellular part [PMID:8162013, TaxID:9606]".\nSO:1000093 "has_agent amino_acid_substitution".\nSO:1000121 "has_agent polypeptide_localization_affected".
---
> comment: GO:0044424 "located_in intracellular part [PMID:8162013, TaxID:9606]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".\nSO:1000121 "has_agent mutation_causing_polypeptide_localization_change".
2215,2216c2215,2216
< xref: SO:1000093 "has_agent amino_acid_substitution"
< xref: SO:1000121 "has_agent polypeptide_localization_affected"
---
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
> xref: SO:1000121 "has_agent mutation_causing_polypeptide_localization_change"
2253,2255c2253,2255
< comment: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2262,2264c2262,2264
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2271,2273c2271,2273
< comment: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2280,2282c2280,2282
< comment: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2289,2291c2289,2291
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2298,2300c2298,2300
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent amino_acid_substitution [VAR_007629:G -> R (440), TaxID:9606]".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2307,2309c2307,2309
< comment: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2316,2318c2316,2318
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2325,2327c2325,2327
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2334,2336c2334,2336
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2343,2345c2343,2345
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2352,2354c2352,2354
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2361,2363c2361,2363
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2370,2372c2370,2372
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2379,2381c2379,2381
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2388,2390c2388,2390
< comment: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2397,2400c2397,2400
< comment: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nMIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nMIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2407,2409c2407,2409
< comment: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2416,2418c2416,2418
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2425,2427c2425,2427
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000097 "has_agent amino_acid_deletion".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000097 "has_agent amino_acid_deletion"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000097 "has_agent mutation_causing_amino_acid_deletion"
2434,2436c2434,2436
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000097 "has_agent amino_acid_deletion".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000097 "has_agent amino_acid_deletion"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000097 "has_agent mutation_causing_amino_acid_deletion"
2443,2445c2443,2445
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000097 "has_agent amino_acid_deletion".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000097 "has_agent amino_acid_deletion"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000097 "has_agent mutation_causing_amino_acid_deletion"
2452,2454c2452,2454
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2461,2463c2461,2463
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000097 "has_agent amino_acid_deletion".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000097 "has_agent amino_acid_deletion"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000097 "has_agent mutation_causing_amino_acid_deletion"
2470,2472c2470,2472
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000097 "has_agent amino_acid_deletion".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000097 "has_agent amino_acid_deletion"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000097 "has_agent mutation_causing_amino_acid_deletion"
2479,2481c2479,2481
< comment: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000097 "has_agent amino_acid_deletion".
< xref: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
< xref: SO:1000097 "has_agent amino_acid_deletion"
---
> comment: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
> xref: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
> xref: SO:1000097 "has_agent mutation_causing_amino_acid_deletion"
2488,2490c2488,2490
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000097 "has_agent amino_acid_deletion".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000097 "has_agent amino_acid_deletion"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000097 "has_agent mutation_causing_amino_acid_deletion"
2497,2499c2497,2499
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2506,2508c2506,2508
< comment: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2515,2517c2515,2517
< comment: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:177170 "agent_of PSEUDOACHONDROPLASTIC DYSPLASIA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2524,2526c2524,2526
< comment: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2533,2535c2533,2535
< comment: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2542,2544c2542,2544
< comment: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:132400 "agent_of EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2572,2575c2572,2575
< comment: GO:0004402 "NOT has_function histone acetyltransferase activity [PMID:11331617, TaxID:9606]".\nMIM:180849 "agent_of RUBINSTEIN-TAYBI SYNDROME [PMID:11331617, TaxID:9606]".\nSO:1000093 "has_agent amino_acid_substitution".\nSO:1000118 "has_agent loss_of_function_of_polypeptide [PMID:11331617, TaxID:9606]".
< xref: MIM:180849 "agent_of RUBINSTEIN-TAYBI SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
< xref: SO:1000118 "has_agent loss_of_function_of_polypeptide"
---
> comment: GO:0004402 "NOT has_function histone acetyltransferase activity [PMID:11331617, TaxID:9606]".\nMIM:180849 "agent_in RUBINSTEIN-TAYBI SYNDROME [PMID:11331617, TaxID:9606]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".\nSO:1000118 "has_agent mutation_causing_loss_of_function_of_polypeptide [PMID:11331617, TaxID:9606]".
> xref: MIM:180849 "agent_in RUBINSTEIN-TAYBI SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
> xref: SO:1000118 "has_agent mutation_causing_loss_of_function_of_polypeptide"
2602,2603c2602,2603
< comment: SO:1000093 "has_agent amino_acid_substitution".
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: SO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2610,2611c2610,2611
< comment: SO:1000093 "has_agent amino_acid_substitution".
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: SO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2680c2680
< comment: GO:0005102 "has_function (impaired) receptor binding [PMID:9405425, TaxID:9606]".\nGO:0005887 "located_in integral to plasma membrane [PMID:7495745, TaxID:10090]".\nGO:0009986 "located_in cell surface [PMID:9405425, TaxID:9606]".\nGO:0042802 "has_function identical protein binding [PMID:9405425, TaxID:9606]".\nMIM:601859 "contributes_to AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution [P41047:F -> L (273), TaxID:10090]".
---
> comment: GO:0005102 "has_function (impaired) receptor binding [PMID:9405425, TaxID:9606]".\nGO:0005887 "located_in integral to plasma membrane [PMID:7495745, TaxID:10090]".\nGO:0009986 "located_in cell surface [PMID:9405425, TaxID:9606]".\nGO:0042802 "has_function identical protein binding [PMID:9405425, TaxID:9606]".\nMIM:601859 "contributes_to AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
2687c2687
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2764c2764
< def: "A lefty that is product of LEFTY1 gene." [PRO:CNA]
---
> def: "A lefty that is a translation product of the LEFTY1 gene." [PRO:CNA]
2816,2818c2816,2818
< comment: MIM:601265.0001 "agent_of SITUS AMBIGUUS [NODAL, ARG183GLN] [PMID:9354794, TaxID:9606]".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:601265.0001 "agent_of SITUS AMBIGUUS [PMID:9354794, TaxID:9606]"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:601265.0001 "agent_in SITUS AMBIGUUS [NODAL, ARG183GLN] [PMID:9354794, TaxID:9606]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:601265.0001 "agent_in SITUS AMBIGUUS [PMID:9354794, TaxID:9606]"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2883,2885c2883,2885
< comment: MIM:137600 "agent_of IRIDOGONIODYSGENESIS, TYPE 2".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:137600 "agent_of IRIDOGONIODYSGENESIS, TYPE 2"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:137600 "agent_in IRIDOGONIODYSGENESIS, TYPE 2".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:137600 "agent_in IRIDOGONIODYSGENESIS, TYPE 2"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2892,2894c2892,2894
< comment: MIM:180500 "agent_of RIEGER SYNDROME, TYPE 1 [PMID: 8944018]".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:180500 "agent_of RIEGER SYNDROME, TYPE 1"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:180500 "agent_in RIEGER SYNDROME, TYPE 1 [PMID: 8944018]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:180500 "agent_in RIEGER SYNDROME, TYPE 1"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2901,2903c2901,2903
< comment: MIM:180500 "agent_of RIEGER SYNDROME, TYPE 1".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:180500 "agent_of RIEGER SYNDROME, TYPE 1"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:180500 "agent_in RIEGER SYNDROME, TYPE 1".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:180500 "agent_in RIEGER SYNDROME, TYPE 1"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2910,2912c2910,2912
< comment: MIM:137600 "agent_of IRIDOGONIODYSGENESIS, TYPE 2 [PMID:9618168, TaxID:9606]".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:137600 "agent_of IRIDOGONIODYSGENESIS, TYPE 2"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:137600 "agent_in IRIDOGONIODYSGENESIS, TYPE 2 [PMID:9618168, TaxID:9606]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:137600 "agent_in IRIDOGONIODYSGENESIS, TYPE 2"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
2919,2921c2919,2921
< comment: MIM:180500 "agent_of RIEGER SYNDROME, TYPE 1 [PMID:8944018, TaxID:9606]".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:180500 "agent_of RIEGER SYNDROME, TYPE 1"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:180500 "agent_in RIEGER SYNDROME, TYPE 1 [PMID:8944018, TaxID:9606]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:180500 "agent_in RIEGER SYNDROME, TYPE 1"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3082,3084c3082,3084
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3091,3093c3091,3093
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3100c3100
< comment: GO:0005887 "located_in integral to plasma membrane [PMID: 14684682, TaxID:9606]".\nMIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000097 "has_agent amino_acid_deletion".
---
> comment: GO:0005887 "located_in integral to plasma membrane [PMID: 14684682, TaxID:9606]".\nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
3102,3103c3102,3103
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000097 "has_agent amino_acid_deletion"
---
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000097 "has_agent mutation_causing_amino_acid_deletion"
3110,3112c3110,3112
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000097 "has_agent amino_acid_deletion".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000097 "has_agent amino_acid_deletion"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000097 "has_agent mutation_causing_amino_acid_deletion"
3119,3121c3119,3121
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3128,3130c3128,3130
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3137c3137
< comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000097 "has_agent amino_acid_deletion".
---
> comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
3139,3140c3139,3140
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000097 "has_agent amino_acid_deletion"
---
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000097 "has_agent mutation_causing_amino_acid_deletion"
3147,3149c3147,3149
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3156,3158c3156,3158
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3165,3167c3165,3167
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3174,3176c3174,3176
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3183c3183
< comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
3185,3186c3185,3186
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3193c3193
< comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
3195,3196c3195,3196
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3203,3205c3203,3205
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3212c3212
< comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
3214,3215c3214,3215
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3222,3224c3222,3224
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3231c3231
< comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
3233,3234c3233,3234
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3241,3243c3241,3243
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3250c3250
< comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
3252,3253c3252,3253
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3260,3262c3260,3262
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3269,3271c3269,3271
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3278,3280c3278,3280
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3287,3289c3287,3289
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3296,3298c3296,3298
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3305,3307c3305,3307
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3314,3316c3314,3316
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3323,3325c3323,3325
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3332c3332
< comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
3334,3335c3334,3335
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3342,3344c3342,3344
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3351,3353c3351,3353
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3360,3362c3360,3362
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3369,3371c3369,3371
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3378,3380c3378,3380
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000097 "has_agent amino_acid_deletion".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000097 "has_agent amino_acid_deletion"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000097 "has_agent mutation_causing_amino_acid_deletion"
3387c3387
< comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
3389,3390c3389,3390
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3397,3399c3397,3399
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3406,3408c3406,3408
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3415,3417c3415,3417
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3424c3424
< comment: GO:0005887 "located_in integral to plasma membrane [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0005887 "located_in integral to plasma membrane [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
3426,3427c3426,3427
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3434,3436c3434,3436
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3443,3445c3443,3445
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3452c3452
< comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682]".\nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
3454,3455c3454,3455
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3462,3464c3462,3464
< comment: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3471c3471
< comment: GO:0009986 "located_in cell surface [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0009986 "located_in cell surface [PMID:14684682, TaxID:9606]".\nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
3473,3474c3473,3474
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3481c3481
< comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID: 14684682, TaxID:9606]".\nGO:0005783 "located_in endoplasmic reticulum [PMID: 14684682, TaxID:9606]".\nMIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID: 14684682, TaxID:9606]".\nGO:0005783 "located_in endoplasmic reticulum [PMID: 14684682, TaxID:9606]".\nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
3483,3484c3483,3484
< xref: MIM:600376 "agent_of OSLER-RENDU-WEBER SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3548,3550c3548,3550
< comment: MIM:175050 "agent_of JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:175050 "agent_of JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:175050 "agent_in JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:175050 "agent_in JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3557,3560c3557,3560
< comment: MIM:175050 "agent_of JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME".\nMIM:260350 "agent_of PANCREATIC CARCINOMA".\nSO:1000093 "has_agent amino_acid_substitution [VAR_019571:G -> R (352), TaxID:9606]".
< xref: MIM:175050 "agent_of JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME"
< xref: MIM:260350 "agent_of PANCREATIC CARCINOMA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:175050 "agent_in JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME".\nMIM:260350 "agent_in PANCREATIC CARCINOMA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:175050 "agent_in JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME"
> xref: MIM:260350 "agent_in PANCREATIC CARCINOMA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3567,3569c3567,3569
< comment: MIM:175050 "agent_of JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:175050 "agent_of JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:175050 "agent_in JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:175050 "agent_in JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3576,3578c3576,3578
< comment: MIM:175050 "agent_of JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:175050 "agent_of JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:175050 "agent_in JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:175050 "agent_in JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3585,3587c3585,3587
< comment: MIM:260350 "agent_of PANCREATIC CARCINOMA".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:260350 "agent_of PANCREATIC CARCINOMA"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:260350 "agent_in PANCREATIC CARCINOMA".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:260350 "agent_in PANCREATIC CARCINOMA"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3801c3801
< def: "A TGF-beta 1 that is a translation product of a processed transcript of the TGFB1 gene represented by the human sequence, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:P01137. This form is a precursor." [PRO:CNA]
---
> def: "A TGF-beta 1 that is a translation product of a processed transcript of the TGFB1 gene, and includes all core domains (signal peptide, latent associated peptide and a transforming growth factor beta like domain), as in the human sequence UniProtKB:P01137. This form is a precursor." [PRO:CNA]
3813,3814c3813,3814
< def: "A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a Pro residue at the position equivalent to Leu-10 in human sequence UniProtKB:P01137." [PRO:CNA]
< comment: Variant associated with higher bone mineral density and lower frequency of vertebral fractures. Increase levels of TGFB1 in serum [PMID: 9783545].\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:9783545, TaxID:9606]".\nSO:1000093 "has_agent amino_acid_substitution".
---
> def: "A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a Pro residue at the position equivalent to Leu-10 in the human sequence UniProtKB:P01137." [PRO:CNA]
> comment: Variant associated with higher bone mineral density and lower frequency of vertebral fractures. Increase levels of TGFB1 in serum [PMID: 9783545].\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:9783545, TaxID:9606]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
3816c3816
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3822,3823c3822,3823
< def: "A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a His residue at the position equivalent to Tyr-81 in human sequence UniProtKB:P01137." [PRO:CNA]
< comment: GO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID: 11062463, TaxID:9606]".\nGO:0044424 "located_in intracellular part [PMID:12493741, TaxID:9606]".\nMIM:131300 "agent_of CAMURATI-ENGELMANN DISEASE [PMID:12493741, TaxID:9606]".\nSO:1000093 "has_agent amino_acid_substitution".\nSO:1000121 "has_agent polypeptide_localization_affected [PMID:12493741, TaxID:9606]".
---
> def: "A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a His residue at the position equivalent to Tyr-81 in the human sequence UniProtKB:P01137." [PRO:CNA]
> comment: GO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID: 11062463, TaxID:9606]".\nGO:0044424 "located_in intracellular part [PMID:12493741, TaxID:9606]".\nMIM:131300 "agent_in CAMURATI-ENGELMANN DISEASE [PMID:12493741, TaxID:9606]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".\nSO:1000121 "has_agent mutation_causing_polypeptide_localization_change [PMID:12493741, TaxID:9606]".
3826,3828c3826,3828
< xref: MIM:131300 "agent_of CAMURATI-ENGELMANN DISEASE"
< xref: SO:1000093 "has_agent amino_acid_substitution"
< xref: SO:1000121 "has_agent polypeptide_localization_affected"
---
> xref: MIM:131300 "agent_in CAMURATI-ENGELMANN DISEASE"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
> xref: SO:1000121 "has_agent mutation_causing_polypeptide_localization_change"
3834,3835c3834,3835
< def: "A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a Cys residue at the position equivalent to Arg-218 in human sequence UniProtKB:P01137." [PRO:CNA]
< comment: GO:0006916 "participates_in anti-apoptosis [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:12843182][PMID:12493741][PMID:11062463]".\nGO:0008083 "has_function (increased) growth factor activity [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".\nMIM:131300 "agent_of CAMURATI-ENGELMANN DISEASE [PMID:12493741, TaxID:9606]".\nSO:1000093 "has_agent amino_acid_substitution [VAR_017608:R -> C (218), TaxID:9606]".
---
> def: "A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a Cys residue at the position equivalent to Arg-218 in the human sequence UniProtKB:P01137." [PRO:CNA]
> comment: GO:0006916 "participates_in anti-apoptosis [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:12843182][PMID:12493741][PMID:11062463]".\nGO:0008083 "has_function (increased) growth factor activity [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".\nMIM:131300 "agent_in CAMURATI-ENGELMANN DISEASE [PMID:12493741, TaxID:9606]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
3839,3840c3839,3840
< xref: MIM:131300 "agent_of CAMURATI-ENGELMANN DISEASE"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:131300 "agent_in CAMURATI-ENGELMANN DISEASE"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3846,3849c3846,3849
< def: "A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a His residue at the position equivalent to Arg-218 in human sequence UniProtKB:P01137." [PRO:CNA]
< comment: MIM:131300 "agent_of CAMURATI-ENGELMANN DISEASE [PMID:12493741, TaxID:9606]".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:131300 "agent_of CAMURATI-ENGELMANN DISEASE"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> def: "A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a His residue at the position equivalent to Arg-218 in the human sequence UniProtKB:P01137." [PRO:CNA]
> comment: MIM:131300 "agent_in CAMURATI-ENGELMANN DISEASE [PMID:12493741, TaxID:9606]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:131300 "agent_in CAMURATI-ENGELMANN DISEASE"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3855,3856c3855,3856
< def: "A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a Asp residue at the position equivalent to His-222 in human sequence UniProtKB:P01137." [PRO:CNA]
< comment: GO:0006916 "participates_in anti-apoptosis [PMID:12493741, TaxID:9606]".\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:12493741, TaxID:9606]".\nMIM:131300 "agent_of CAMURATI-ENGELMANN DISEASE [PMID:12493741, TaxID:9606]".\nSO:1000093 "has_agent amino_acid_substitution".
---
> def: "A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a Asp residue at the position equivalent to His-222 in the human sequence UniProtKB:P01137." [PRO:CNA]
> comment: GO:0006916 "participates_in anti-apoptosis [PMID:12493741, TaxID:9606]".\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:12493741, TaxID:9606]".\nMIM:131300 "agent_in CAMURATI-ENGELMANN DISEASE [PMID:12493741, TaxID:9606]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
3859,3860c3859,3860
< xref: MIM:131300 "agent_of CAMURATI-ENGELMANN DISEASE"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:131300 "agent_in CAMURATI-ENGELMANN DISEASE"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3866,3867c3866,3867
< def: "A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a Arg residue at the position equivalent to Cys-225 in human sequence UniProtKB:P01137." [PRO:CNA]
< comment: GO:0005615 "located_in extracellular space [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".\nGO:0006916 "participates_in anti-apoptosis [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".\nGO:0008083 "has_function (increased) growth factor activity [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".\nMIM:131300 "agent_of CAMURATI-ENGELMANN DISEASE [PMID:12493741, TaxID:9606]".\nSO:1000093 "has_agent amino_acid_substitution".
---
> def: "A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a Arg residue at the position equivalent to Cys-225 in the human sequence UniProtKB:P01137." [PRO:CNA]
> comment: GO:0005615 "located_in extracellular space [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".\nGO:0006916 "participates_in anti-apoptosis [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".\nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".\nGO:0008083 "has_function (increased) growth factor activity [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".\nMIM:131300 "agent_in CAMURATI-ENGELMANN DISEASE [PMID:12493741, TaxID:9606]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
3872,3873c3872,3873
< xref: MIM:131300 "agent_of CAMURATI-ENGELMANN DISEASE"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:131300 "agent_in CAMURATI-ENGELMANN DISEASE"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
3893c3893
< def: "A TGF-beta 2 that is a translation product of a processed transcript of the TGFB2 gene, that has an insertion of around 30 amino acids in the propeptide region encoded by an additional cassette type exon between exons 1 and 2 (Exon 2b)." [PMID:16868931, PMID:1777240, PMID:2850146, PRO:CNA]
---
> def: "A TGF-beta 2 that is a translation product of a processed transcript of the TGFB2 gene, that has an insertion of around 30 amino acids in the propeptide region encoded by an additional cassette type exon, as in the exon between exons 1 and 2 (Exon 2b) in human." [PMID:16868931, PMID:1777240, PMID:2850146, PRO:CNA]
3907c3907
< def: "A TGF-beta 1 that is a translation product of a processed transcript of the TGFB3 gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:P10600-1. This form is a precursor." [PRO:CNA]
---
> def: "A TGF-beta 3 that is a translation product of a processed transcript of the TGFB3 gene, and includes all core domains (signal peptide, latent associated peptide and a transforming growth factor beta like domain), as in the human sequence UniProtKB:P10600-1. This form is a precursor." [PRO:CNA]
4177c4177
< comment: GO:0005515 "has_function protein binding [PRO:000000164, PMID:9288098, TaxID:9606]".\nGO:0005622 "located_in intracellular [PMID:9288098, TaxID:9606]".\nGO:0008083 "NOT has_function growth factor activity [PMID:9288098, TaxID:9606]".\nMIM:200700 "agent_of CHONDRODYSPLASIA, GREBE TYPE".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0005515 "has_function protein binding [PRO:000000164, PMID:9288098, TaxID:9606]".\nGO:0005622 "located_in intracellular [PMID:9288098, TaxID:9606]".\nGO:0008083 "NOT has_function growth factor activity [PMID:9288098, TaxID:9606]".\nMIM:200700 "agent_in CHONDRODYSPLASIA, GREBE TYPE".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
4180,4181c4180,4181
< xref: MIM:200700 "agent_of CHONDRODYSPLASIA, GREBE TYPE"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:200700 "agent_in CHONDRODYSPLASIA, GREBE TYPE"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
4188c4188
< comment: GO:0005615 "located_in extracellular space [PMID:16532400, TaxID:9606]".\nMIM:610017 "agent_of MULTIPLE SYNOSTOSES SYNDROME 2".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0005615 "located_in extracellular space [PMID:16532400, TaxID:9606]".\nMIM:610017 "agent_in MULTIPLE SYNOSTOSES SYNDROME 2".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
4190,4191c4190,4191
< xref: MIM:610017 "agent_of MULTIPLE SYNOSTOSES SYNDROME 2"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: MIM:610017 "agent_in MULTIPLE SYNOSTOSES SYNDROME 2"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
4198,4200c4198,4200
< comment: MIM:228900 "agent_of FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:228900 "agent_of FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:228900 "agent_in FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:228900 "agent_in FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
4207c4207
< comment: MP:0006279 "abnormal limb development".\nPMID:8145850 "agent_of brachyopodism".\nSO:1000098 "has_agent mutation_causing_polypeptide_truncation".
---
> comment: MP:0006279 "abnormal limb development".\nPMID:8145850 "agent_in brachyopodism".\nSO:1000098 "has_agent mutation_causing_polypeptide_truncation".
4217c4217
< comment: MP:0006279 "abnormal limb development".\nPMID:8145850 "agent_of brachyopodism".
---
> comment: MP:0006279 "abnormal limb development".\nPMID:8145850 "agent_in brachyopodism".
4302,4304c4302,4304
< comment: MIM:601877 "agent_of LEFT-RIGHT AXIS MALFORMATIONS".\nSO:1000093 "has_agent amino_acid_substitution".
< xref: MIM:601877 "agent_of LEFT-RIGHT AXIS MALFORMATIONS"
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> comment: MIM:601877 "agent_in LEFT-RIGHT AXIS MALFORMATIONS".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
> xref: MIM:601877 "agent_in LEFT-RIGHT AXIS MALFORMATIONS"
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
4461c4461
< comment: GO:0003713 "NOT has_function transcription coactivator activity [PMID:8752209, TaxID:9606]".\nGO:0007165 "participates_in signal transduction [PMID:8752209, TaxID:9606]".\nSO:1000093 "has_agent amino_acid_substitution".\nUMLS:C0009402 "agent_of carcinoma of the large intestine [PMID:8752209, TaxID:9606]".
---
> comment: GO:0003713 "NOT has_function transcription coactivator activity [PMID:8752209, TaxID:9606]".\nGO:0007165 "participates_in signal transduction [PMID:8752209, TaxID:9606]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".\nUMLS:C0009402 "agent_in carcinoma of the large intestine [PMID:8752209, TaxID:9606]".
4463,4464c4463,4464
< xref: SO:1000093 "has_agent amino_acid_substitution"
< xref: UMLS:C0009402 "agent_of carcinoma of the large intestine"
---
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
> xref: UMLS:C0009402 "agent_in carcinoma of the large intestine"
4471,4473c4471,4473
< comment: SO:1000093 "has_agent amino_acid_substitution [VAR_011377:L -> R (440), TaxID:9606]".\nUMLS:C0009402 "agent_of carcinoma of the large intestine".
< xref: SO:1000093 "has_agent amino_acid_substitution"
< xref: UMLS:C0009402 "agent_of carcinoma of the large intestine"
---
> comment: SO:1000093 "has_agent mutation_causing_amino_acid_substitution [VAR_011377:L -> R (440), TaxID:9606]".\nUMLS:C0009402 "agent_in carcinoma of the large intestine".
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
> xref: UMLS:C0009402 "agent_in carcinoma of the large intestine"
4480,4482c4480,4482
< comment: GO:0003713 "NOT has_function transcription coactivator activity [PMID:8752209, TaxID:9606]".\nSO:1000093 "has_agent amino_acid_substitution".\nUMLS:C0009402 "agent_of carcinoma of the large intestine [PMID:8752209, TaxID:9606]".
< xref: SO:1000093 "has_agent amino_acid_substitution"
< xref: UMLS:C0009402 "agent_of carcinoma of the large intestine"
---
> comment: GO:0003713 "NOT has_function transcription coactivator activity [PMID:8752209, TaxID:9606]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".\nUMLS:C0009402 "agent_in carcinoma of the large intestine [PMID:8752209, TaxID:9606]".
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
> xref: UMLS:C0009402 "agent_in carcinoma of the large intestine"
4489,4491c4489,4491
< comment: GO:0003713 "NOT has_function transcription coactivator activity [PMID:8752209, TaxID:9606]".\nSO:1000093 "has_agent amino_acid_substitution".\nUMLS:C0009402 "agent_of carcinoma of the large intestine [PMID:8752209, TaxID:9606]".
< xref: SO:1000093 "has_agent amino_acid_substitution"
< xref: UMLS:C0009402 "agent_of carcinoma of the large intestine"
---
> comment: GO:0003713 "NOT has_function transcription coactivator activity [PMID:8752209, TaxID:9606]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".\nUMLS:C0009402 "agent_in carcinoma of the large intestine [PMID:8752209, TaxID:9606]".
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
> xref: UMLS:C0009402 "agent_in carcinoma of the large intestine"
4498,4500c4498,4500
< comment: GO:0003713 "NOT has_function transcription coactivator activity [PMID:8673135, TaxID:9606]".\nSO:1000097 "has_agent amino_acid_deletion".\nUMLS:C0009402 "agent_of carcinoma of the large intestine [PMID:8673135, TaxID:9606]".
< xref: SO:1000097 "has_agent amino_acid_deletion"
< xref: UMLS:C0009402 "agent_of carcinoma of the large intestine"
---
> comment: GO:0003713 "NOT has_function transcription coactivator activity [PMID:8673135, TaxID:9606]".\nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".\nUMLS:C0009402 "agent_in carcinoma of the large intestine [PMID:8673135, TaxID:9606]".
> xref: SO:1000097 "has_agent mutation_causing_amino_acid_deletion"
> xref: UMLS:C0009402 "agent_in carcinoma of the large intestine"
5858c5858
< comment: GO:0044424 "located_in intracellular part [PMID:12493741, TaxID:9606]".\nSO:1000121 "has_agent polypeptide_localization_affected [PMID:12493741, TaxID:9606]".
---
> comment: GO:0044424 "located_in intracellular part [PMID:12493741, TaxID:9606]".\nSO:1000121 "has_agent mutation_causing_polypeptide_localization_change [PMID:12493741, TaxID:9606]".
5860c5860
< xref: SO:1000121 "has_agent polypeptide_localization_affected"
---
> xref: SO:1000121 "has_agent mutation_causing_polypeptide_localization_change"
5867c5867
< comment: GO:0005615 "located_in extracellular space [PMID:12493741, TaxID:9606]".\nSO:1000093 "has_agent amino_acid_substitution".
---
> comment: GO:0005615 "located_in extracellular space [PMID:12493741, TaxID:9606]".\nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
5869c5869
< xref: SO:1000093 "has_agent amino_acid_substitution"
---
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
5888,5890c5888,5890
< comment: SO:1000093 "has_agent amino_acid_substitution".\nSO:1000124 "has_agent partial_loss_of_function_of_polypeptide [PMID:11278244, TaxID:9606]".
< xref: SO:1000093 "has_agent amino_acid_substitution"
< xref: SO:1000124 "has_agent partial_loss_of_function_of_polypeptide"
---
> comment: SO:1000093 "has_agent mutation_causing_amino_acid_substitution".\nSO:1000124 "has_agent mutation_causing_partial_loss_of_function_of_polypeptide [PMID:11278244, TaxID:9606]".
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
> xref: SO:1000124 "has_agent mutation_causing_partial_loss_of_function_of_polypeptide"
5908,5911c5908,5911
< comment: SO:1000093 "has_agent amino_acid_substitution".\nSO:1000116 "has_agent conformational_change [PMID:11278244, TaxID:9606]".\nSO:1000124 "has_agent partial_loss_of_function_of_polypeptide [PMID:11278244, TaxID:9606]".
< xref: SO:1000093 "has_agent amino_acid_substitution"
< xref: SO:1000116 "has_agent conformational_change"
< xref: SO:1000124 "has_agent partial_loss_of_function_of_polypeptide"
---
> comment: SO:1000093 "has_agent mutation_causing_amino_acid_substitution".\nSO:1000116 "has_agent mutation_causing_conformational_change [PMID:11278244, TaxID:9606]".\nSO:1000124 "has_agent mutation_causing_partial_loss_of_function_of_polypeptide [PMID:11278244, TaxID:9606]".
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
> xref: SO:1000116 "has_agent mutation_causing_conformational_change"
> xref: SO:1000124 "has_agent mutation_causing_partial_loss_of_function_of_polypeptide"
5927,5929c5927,5929
< comment: SO:1000093 "has_agent amino_acid_substitution".\nSO:1000124 "has_agent partial_loss_of_function_of_polypeptide [PMID:11278244, TaxID:9606]".
< xref: SO:1000093 "has_agent amino_acid_substitution"
< xref: SO:1000124 "has_agent partial_loss_of_function_of_polypeptide"
---
> comment: SO:1000093 "has_agent mutation_causing_amino_acid_substitution".\nSO:1000124 "has_agent mutation_causing_partial_loss_of_function_of_polypeptide [PMID:11278244, TaxID:9606]".
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
> xref: SO:1000124 "has_in partial_mutation_causing_loss_of_function_of_polypeptide"
5934c5934
< name: TGF-beta 1 sequence variant cleaved 1
---
> name: TGF-beta 1 sequence variant 4 cleaved 1
5946c5946
< name: TGF-beta 1 sequence variant cleaved 2
---
> name: TGF-beta 1 sequence variant 4 cleaved 2
5948,5951c5948,5951
< comment: SO:1000093 "has_agent amino_acid_substitution".\nSO:1000116 "has_agent conformational_change [PMID:11278244, TaxID:9606]".\nSO:1000124 "has_agent partial_loss_of_function_of_polypeptide [PMID:11278244, TaxID:9606]".
< xref: SO:1000093 "has_agent amino_acid_substitution"
< xref: SO:1000116 "has_agent conformational_change"
< xref: SO:1000124 "has_agent partial_loss_of_function_of_polypeptide"
---
> comment: SO:1000093 "has_agent mutation_causing_amino_acid_substitution".\nSO:1000116 "has_agent mutation_causing_conformational_change [PMID:11278244, TaxID:9606]".\nSO:1000124 "has_agent mutation_causing_partial_loss_of_function_of_polypeptide [PMID:11278244, TaxID:9606]".
> xref: SO:1000093 "has_agent mutation_causing_amino_acid_substitution"
> xref: SO:1000116 "has_agent mutation_causing_conformational_change"
> xref: SO:1000124 "has_agent mutation_causing_partial_loss_of_function_of_polypeptide"