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: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease 1.000 None 0.982 1 0 1953 2020
Entrez Id: 5009
Gene Symbol: OTC
OTC 		ornithine carbamoyltransferase 0.565 0.846 0.87
CUI: C0268542
Disease: Ornithine carbamoyltransferase deficiency
Ornithine carbamoyltransferase deficiency 		disease 1.000 definitive 1.000 1 0 1976 2018
Entrez Id: 5078
Gene Symbol: PAX4
PAX4 		paired box 4 0.644 0.423 4.2E-04
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 1.000 limited 0.857 1 0 1999 2019
Entrez Id: 5428
Gene Symbol: POLG
POLG 		DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0205710
Disease: Alpers Syndrome (disorder)
Alpers Syndrome (disorder) 		disease 1.000 None 0.992 1 0 2001 2019
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1 		UDP glucuronosyltransferase family 1 member A1 0.464 0.769 3.3E-06
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		disease 1.000 None 0.984 1 0 1992 2019
Entrez Id: 5468
Gene Symbol: PPARG
PPARG 		peroxisome proliferator activated receptor gamma 0.358 0.885 2.9E-02
CUI: C0028754
Disease: Obesity
Obesity 		disease 1.000 None 0.960 1 0 1997 2020
Entrez Id: 551
Gene Symbol: AVP
AVP 		arginine vasopressin 0.437 0.846 7.4E-02
CUI: C0687720
Disease: Central Diabetes Insipidus
Central Diabetes Insipidus 		disease 1.000 None 0.988 1 0 1978 2020
Entrez Id: 5979
Gene Symbol: RET
RET 		ret proto-oncogene 0.392 0.885 1.00
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease 1.000 None 0.960 1 0 1990 2019
Entrez Id: 7157
Gene Symbol: TP53
TP53 		tumor protein p53 0.236 0.962 0.53
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		disease 1.000 None 0.959 1 0 1990 2020
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67 		transmembrane protein 67 0.512 0.769 2.1E-24
CUI: C1846357
Disease: Meckel syndrome type 3
Meckel syndrome type 3 		disease 0.950 None 1.000 1 0 1977 2019
Entrez Id: 2703
Gene Symbol: GJA8
GJA8 		gap junction protein alpha 8 0.587 0.577 2.2E-03
CUI: C1861828
Disease: Cataract, Zonular Pulverulent 1
Cataract, Zonular Pulverulent 1 		disease 0.930 None 1.000 1 0 1998 2016
Entrez Id: 1636
Gene Symbol: ACE
ACE 		angiotensin I converting enzyme 0.328 0.923 1.0E-37
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.900 strong 0.915 1 0 1998 2020
Entrez Id: 26191
Gene Symbol: PTPN22
PTPN22 		protein tyrosine phosphatase non-receptor type 22 0.438 0.846 3.5E-21
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		disease 0.900 None 0.945 1 0 2004 2020
Entrez Id: 338
Gene Symbol: APOB
APOB 		apolipoprotein B 0.453 0.808 1.9E-16
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease 0.900 strong 0.985 1 0 1987 2019
Entrez Id: 3481
Gene Symbol: IGF2
IGF2 		insulin like growth factor 2 0.390 0.885 4.4E-02
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		phenotype 0.900 None 1.000 1 0 1992 2019
Entrez Id: 359
Gene Symbol: AQP2
AQP2 		aquaporin 2 0.581 0.769 2.5E-06
CUI: C0162283
Disease: Nephrogenic Diabetes Insipidus
Nephrogenic Diabetes Insipidus 		disease 0.900 strong 1.000 1 0 1988 2020
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