Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7369
Gene Symbol: UMOD
UMOD 		uromodulin 0.520 0.846 3.1E-17
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.160 None 0.833 0 1 1994 2015
Entrez Id: 950
Gene Symbol: SCARB2
SCARB2 		scavenger receptor class B member 2 0.606 0.615 8.9E-05
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.140 None 1.000 0 1 2009 2018
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		polycystin 1, transient receptor potential channel interacting 0.493 0.769 1.00
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.120 None 1.000 0 1 1990 1992
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5 		collagen type IV alpha 5 chain 0.553 0.654 1.00
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.110 None 1.000 0 1 2017 2017
Entrez Id: 64423
Gene Symbol: INF2
INF2 		inverted formin, FH2 and WH2 domain containing 0.644 0.423 0.97
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.100 None 0 1
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.100 None 0 3
Entrez Id: 8481
Gene Symbol: OFD1
OFD1 		OFD1 centriole and centriolar satellite protein 0.510 0.808 0.96
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		disease 0.100 None 0 1