Source: RGD

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: 3767
Gene Symbol: KCNJ11
KCNJ11 		potassium inwardly rectifying channel subfamily J member 11 0.529 0.615 1.1E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.900 strong 0.943 1 0 1996 2019
Entrez Id: 4312
Gene Symbol: MMP1
MMP1 		matrix metallopeptidase 1 0.385 0.885 7.7E-18
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease 0.900 limited 0.875 1 0 2002 2019
Entrez Id: 4352
Gene Symbol: MPL
MPL 		MPL proto-oncogene, thrombopoietin receptor 0.510 0.692 4.1E-09
CUI: C0026987
Disease: Myelofibrosis
Myelofibrosis 		disease 0.900 None 0.967 1 0 2006 2020
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0023418
Disease: leukemia
leukemia 		disease 0.900 strong 1.000 1 0 1998 2018
Entrez Id: 5160
Gene Symbol: PDHA1
PDHA1 		pyruvate dehydrogenase E1 subunit alpha 1 0.581 0.538 0.99
CUI: C0034345
Disease: Pyruvate Dehydrogenase Complex Deficiency Disease
Pyruvate Dehydrogenase Complex Deficiency Disease 		disease 0.900 None 1.000 1 0 1990 2015
Entrez Id: 5310
Gene Symbol: PKD1
PKD1 		polycystin 1, transient receptor potential channel interacting 0.493 0.769 1.00
CUI: C0022680
Disease: Polycystic Kidney Diseases
Polycystic Kidney Diseases 		group 0.900 definitive 0.976 1 0 1990 2019
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease 0.900 strong 0.948 1 0 1996 2020
Entrez Id: 675
Gene Symbol: BRCA2
BRCA2 		BRCA2 DNA repair associated 0.379 0.846 2.4E-25
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease 0.900 None 0.947 1 0 1994 2020
Entrez Id: 7299
Gene Symbol: TYR
TYR 		tyrosinase 0.473 0.808 5.0E-32
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous 		disease 0.900 strong 0.982 1 0 1981 2019
Entrez Id: 7389
Gene Symbol: UROD
UROD 		uroporphyrinogen decarboxylase 0.521 0.769 1.3E-08
CUI: C0162566
Disease: Porphyria Cutanea Tarda
Porphyria Cutanea Tarda 		disease 0.900 None 0.988 1 0 1976 2019
Entrez Id: 7428
Gene Symbol: VHL
VHL 		von Hippel-Lindau tumor suppressor 0.443 0.846 8.0E-02
CUI: C0022665
Disease: Kidney Neoplasm
Kidney Neoplasm 		disease 0.900 None 1.000 1 0 1995 2019
Entrez Id: 841
Gene Symbol: CASP8
CASP8 		caspase 8 0.404 0.923 3.7E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 0.900 None 1.000 1 0 1998 2019
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		filamin A 0.419 0.846 1.00
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		disease 0.810 strong 1.000 1 0 1998 2013
Entrez Id: 1244
Gene Symbol: ABCC2
ABCC2 		ATP binding cassette subfamily C member 2 0.483 0.808 5.2E-47
CUI: C0008370
Disease: Cholestasis
Cholestasis 		disease 0.800 strong 0.963 5 0 2000 2020
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group 0.800 None 1.000 2 0 1997 2019
Entrez Id: 1029
Gene Symbol: CDKN2A
CDKN2A 		cyclin dependent kinase inhibitor 2A 0.300 0.885 0.39
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		group 0.800 None 0.957 1 0 1994 2019
Entrez Id: 1813
Gene Symbol: DRD2
DRD2 		dopamine receptor D2 0.436 0.846 0.75
CUI: C0600427
Disease: Cocaine Dependence
Cocaine Dependence 		disease 0.800 None 1.000 1 0 1993 2019
Entrez Id: 3356
Gene Symbol: HTR2A
HTR2A 		5-hydroxytryptamine receptor 2A 0.473 0.846 0.51
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease 0.800 None 0.600 1 0 1997 2018
Entrez Id: 341640
Gene Symbol: FREM2
FREM2 		FRAS1 related extracellular matrix 2 0.566 0.577 3.6E-11
CUI: C4540036
Disease: FRASER SYNDROME 2
FRASER SYNDROME 2 		disease 0.800 strong 1.000 1 0 2005 2019
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2 		ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 0.529 0.808 1.00
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease 0.800 strong 0.929 1 0 1996 2019
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A 		HNF1 homeobox A 0.478 0.846 0.96
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 0.800 None 0.931 1 0 1990 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group 0.800 None 0.974 1 0 1990 2019
Entrez Id: 773
Gene Symbol: CACNA1A
CACNA1A 		calcium voltage-gated channel subunit alpha1 A 0.489 0.769 1.00
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		disease 0.760 strong 1.000 1 0 1996 2020
Entrez Id: 1571
Gene Symbol: CYP2E1
CYP2E1 		cytochrome P450 family 2 subfamily E member 1 0.459 0.885 8.1E-09
CUI: C0085762
Disease: Alcohol abuse
Alcohol abuse 		disease 0.740 None 1.000 1 0 1992 2013
Entrez Id: 6285
Gene Symbol: S100B
S100B 		S100 calcium binding protein B 0.383 0.923 4.4E-02
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease 0.740 None 1.000 1 0 2004 2017