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: 2200
Gene Symbol: FBN1
FBN1 		P35555 fibrillin 1 Calcium-binding protein 137 0.417 0.846 1.00 0.160 None 1.000 0 11 1998 2016
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		P36897 transforming growth factor beta receptor 1 Kinase 20 0.451 0.885 0.85 0.110 None 1.000 0 1 2014 2014
Entrez Id: 1289
Gene Symbol: COL5A1
COL5A1 		P20908 collagen type V alpha 1 chain 26 0.536 0.769 1.00 0.100 None 0 1
Entrez Id: 165
Gene Symbol: AEBP1
AEBP1 		Q8IUX7 AE binding protein 1 13 0.631 0.654 7.3E-11 0.100 None 0 1
Entrez Id: 55690
Gene Symbol: PACS1
PACS1 		Q6VY07 phosphofurin acidic cluster sorting protein 1 17 0.603 0.615 1.00 0.100 None 0 1
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		P51812 ribosomal protein S6 kinase A3 Kinase 45 0.491 0.846 1.00 0.100 None 0 1
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1 		Q9UHF7 transcriptional repressor GATA binding 1 71 0.537 0.769 1.00 0.100 None 0 1