Source: ALL

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: 5311
Gene Symbol: PKD2
PKD2 		polycystin 2, transient receptor potential cation channel 0.552 0.731 1.7E-04
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 1.000 definitive 0.984 312 18 1994 2020
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		polycystin 1, transient receptor potential channel interacting 0.493 0.769 1.00
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.900 definitive 0.979 429 2 1988 2020
Entrez Id: 23193
Gene Symbol: GANAB
GANAB 		glucosidase II alpha subunit 0.716 0.423 1.00
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.640 None 1.000 4 1 2016 2019
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.330 None 1.000 4 0 2010 2018
Entrez Id: 203286
Gene Symbol: ANKS6
ANKS6 		ankyrin repeat and sterile alpha motif domain containing 6 0.682 0.346 6.9E-06
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.310 None 1.000 2 0 1997 2002
Entrez Id: 80114
Gene Symbol: BICC1
BICC1 		BicC family RNA binding protein 1 0.636 0.577 0.84
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.310 None 1.000 2 0 2012 2012
Entrez Id: 23476
Gene Symbol: BRD4
BRD4 		bromodomain containing 4 0.446 0.885 1.00
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.310 None 1.000 1 0 2015 2015
Entrez Id: 4609
Gene Symbol: MYC
MYC 		MYC proto-oncogene, bHLH transcription factor 0.344 0.923 1.00
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.300 None 1.000 1 0 2015 2015
Entrez Id: 79796
Gene Symbol: ALG9
ALG9 		ALG9 alpha-1,2-mannosyltransferase 0.644 0.654 6.4E-04
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.300 moderate 1.000 1 0 2019 2019
Entrez Id: 11127
Gene Symbol: KIF3A
KIF3A 		kinesin family member 3A 0.612 0.615 0.90
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.200 None 0 0
Entrez Id: 5587
Gene Symbol: PRKD1
PRKD1 		protein kinase D1 0.531 0.846 6.6E-07
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.100 None 0.974 38 0 1990 2019
Entrez Id: 5972
Gene Symbol: REN
REN 		renin 0.370 0.923 2.4E-07
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.100 None 0.941 17 1 1990 2019
Entrez Id: 1636
Gene Symbol: ACE
ACE 		angiotensin I converting enzyme 0.328 0.923 1.0E-37
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.100 None 0.824 17 2 1997 2017
Entrez Id: 7249
Gene Symbol: TSC2
TSC2 		TSC complex subunit 2 0.439 0.808 1.00
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.100 None 0.929 14 0 1994 2015
Entrez Id: 554
Gene Symbol: AVPR2
AVPR2 		arginine vasopressin receptor 2 0.568 0.769 0.56
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.100 None 0.923 13 0 2016 2019
Entrez Id: 3039
Gene Symbol: HBA1
HBA1 		hemoglobin subunit alpha 1 0.508 0.808 6.7E-03
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.100 None 1.000 11 0 1985 1992
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		PKHD1 ciliary IPT domain containing fibrocystin/polyductin 0.576 0.654 1.2E-47
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.100 None 1.000 11 0 2008 2019
Entrez Id: 3040
Gene Symbol: HBA2
HBA2 		hemoglobin subunit alpha 2 0.512 0.808 3.1E-03
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.100 None 1.000 11 0 1985 1992
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.090 None 1.000 9 0 1996 2019
Entrez Id: 4846
Gene Symbol: NOS3
NOS3 		nitric oxide synthase 3 0.378 0.885 6.7E-07
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.090 None 0.889 9 1 2002 2014
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		mechanistic target of rapamycin kinase 0.343 0.885 1.00
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.080 None 0.875 8 0 2010 2019
Entrez Id: 183
Gene Symbol: AGT
AGT 		angiotensinogen 0.367 0.923 5.0E-08
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.070 None 1.000 7 3 1997 2017
Entrez Id: 6750
Gene Symbol: SST
SST 		somatostatin 0.399 0.885 0.34
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.070 None 1.000 7 0 2017 2019
Entrez Id: 8074
Gene Symbol: FGF23
FGF23 		fibroblast growth factor 23 0.460 0.731 3.1E-02
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.070 None 1.000 7 0 2012 2019
Entrez Id: 551
Gene Symbol: AVP
AVP 		arginine vasopressin 0.437 0.846 7.4E-02
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		disease 0.070 None 1.000 7 0 2017 2019