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 0.450 None 1.000 0 14 1994 2016
Entrez Id: 2201
Gene Symbol: FBN2
FBN2 		P35556 fibrillin 2 Calcium-binding protein 27 0.505 0.808 1.00 0.120 None 1.000 0 1 1995 2016
Entrez Id: 1123
Gene Symbol: CHN1
CHN1 		P15882 chimerin 1 22 0.573 0.615 3.1E-02 0.100 None 0 1
Entrez Id: 29888
Gene Symbol: STRN4
STRN4 		Q9NRL3 striatin 4 22 0.792 0.346 0.99 0.100 None 0 1
Entrez Id: 7046
Gene Symbol: TGFBR1
TGFBR1 		P36897 transforming growth factor beta receptor 1 Kinase 20 0.451 0.885 0.85 0.100 None 0 1
Entrez Id: 7466
Gene Symbol: WFS1
WFS1 		O76024 wolframin ER transmembrane glycoprotein 24 0.528 0.846 1.6E-38 0.100 None 0 1
Entrez Id: 79147
Gene Symbol: FKRP
FKRP 		Q9H9S5 fukutin related protein 36 0.513 0.731 9.8E-06 0.100 None 0 2
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		Q9BZR9 tripartite motif containing 8 43 0.588 0.731 0.99 0.100 None 0 1
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		Q12767 transmembrane protein 94 73 0.628 0.654 2.8E-14 0.100 None 0 2