Source: CLINVAR ×
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7048
Gene Symbol: TGFBR2
TGFBR2 		P37173 transforming growth factor beta receptor 2 Kinase 18 0.413 0.846 0.13 1.000 strong 1.000 19 17 2003 2019
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		P36897 transforming growth factor beta receptor 1 Kinase 20 0.451 0.885 0.85 1.000 definitive 1.000 14 8 1993 2019
Entrez Id: 7042
Gene Symbol: TGFB2
TGFB2 		P61812 transforming growth factor beta 2 Signaling 4 0.433 0.885 1.00 0.890 strong 1.000 0 3 2012 2018
Entrez Id: 4088
Gene Symbol: SMAD3
SMAD3 		P84022 SMAD family member 3 Transcription factor 6 0.415 0.923 0.80 0.680 moderate 1.000 0 1 2012 2019
Entrez Id: 1281
Gene Symbol: COL3A1
COL3A1 		P02461 collagen type III alpha 1 chain 11 0.477 0.808 1.00 0.410 strong 1.000 0 1 1990 2016
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		P35555 fibrillin 1 Calcium-binding protein 137 0.417 0.846 1.00 0.180 None 1.000 0 1 2006 2018