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: 5310
Gene Symbol: PKD1
PKD1 		polycystin 1, transient receptor potential channel interacting 0.493 0.769 1.00
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype 0.200 None 1.000 0 1 1990 2019
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		PKHD1 ciliary IPT domain containing fibrocystin/polyductin 0.576 0.654 1.2E-47
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype 0.150 None 1.000 0 2 2004 2019
Entrez Id: 5076
Gene Symbol: PAX2
PAX2 		paired box 2 0.495 0.731 0.67
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype 0.110 None 1.000 0 1 2000 2000
Entrez Id: 79809
Gene Symbol: TTC21B
TTC21B 		tetratricopeptide repeat domain 21B 0.619 0.654 2.7E-26
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype 0.100 None 1.000 2 1 2014 2017
Entrez Id: 100506134
Gene Symbol: TTC21B-AS1
TTC21B-AS1 		TTC21B antisense RNA 1 0.769 0.346
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype 0.100 None 1.000 2 1 2014 2017
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		Snf2 related CREBBP activator protein 0.610 0.731 1.00
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype 0.100 None 0 1
Entrez Id: 7273
Gene Symbol: TTN
TTN 		titin 0.470 0.885 2.6E-96
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype 0.100 None 0 1
Entrez Id: 79738
Gene Symbol: BBS10
BBS10 		Bardet-Biedl syndrome 10 0.644 0.538 1.7E-12
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype 0.100 None 0 1
Entrez Id: 100506866
Gene Symbol: TTN-AS1
TTN-AS1 		TTN antisense RNA 1 0.599 0.577
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype 0.100 None 0 1
Entrez Id: 8239
Gene Symbol: USP9X
USP9X 		ubiquitin specific peptidase 9 X-linked 0.502 0.846 1.00
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype 0.100 None 0 1
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C3887499
Disease: Renal cyst
Renal cyst 		phenotype 0.100 None 0 2