Source: GENOMICS_ENGLAND

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: 9657
Gene Symbol: IQCB1
IQCB1 		IQ motif containing B1 0.641 0.654 1.4E-12
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		disease 0.690 strong 1.000 0 0 2005 2018
Entrez Id: 4867
Gene Symbol: NPHP1
NPHP1 		nephrocystin 1 0.572 0.731 1.2E-17
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		disease 0.610 None 1.000 2 0 2005 2013
Entrez Id: 80184
Gene Symbol: CEP290
CEP290 		centrosomal protein 290 0.517 0.769 1.1E-60
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		disease 0.540 None 1.000 2 0 2007 2013
Entrez Id: 261734
Gene Symbol: NPHP4
NPHP4 		nephrocystin 4 0.674 0.423 1.7E-29
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		disease 0.530 strong 1.000 0 0 2002 2012
Entrez Id: 57728
Gene Symbol: WDR19
WDR19 		WD repeat domain 19 0.554 0.769 4.6E-11
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		disease 0.520 strong 1.000 0 0 2013 2014
Entrez Id: 10806
Gene Symbol: SDCCAG8
SDCCAG8 		serologically defined colon cancer antigen 8 0.619 0.577 1.2E-11
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		disease 0.510 strong 1.000 1 0 2011 2013
Entrez Id: 27031
Gene Symbol: NPHP3
NPHP3 		nephrocystin 3 0.597 0.654 9.8E-16
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		disease 0.510 None 1.000 0 0 2010 2012
Entrez Id: 27130
Gene Symbol: INVS
INVS 		inversin 0.619 0.538 5.6E-18
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		disease 0.500 strong 1.000 1 0 2003 2012
Entrez Id: 22897
Gene Symbol: CEP164
CEP164 		centrosomal protein 164 0.711 0.462 4.8E-27
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		disease 0.500 strong 1.000 0 0 2012 2012
Entrez Id: 132320
Gene Symbol: SCLT1
SCLT1 		sodium channel and clathrin linker 1 0.663 0.577 4.4E-16
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		disease 0.310 None 1.000 3 0 2014 2018
Entrez Id: 282809
Gene Symbol: POC1B
POC1B 		POC1 centriolar protein B 0.705 0.385 3.0E-08
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		disease 0.300 moderate 0 0