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: 443
Gene Symbol: ASPA
ASPA 		aspartoacylase 0.564 0.731 4.1E-04
CUI: C0206307
Disease: Canavan Disease
Canavan Disease 		disease 1.000 strong 0.967 1 0 1990 2020
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: 351
Gene Symbol: APP
APP 		amyloid beta precursor protein 0.422 0.846 4.7E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		disease 0.900 None 0.981 3 0 1987 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease 0.900 strong 0.977 3 0 1982 2020
Entrez Id: 201163
Gene Symbol: FLCN
FLCN 		folliculin 0.537 0.885 0.79
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		disease 0.900 strong 0.920 2 0 2002 2020
Entrez Id: 2645
Gene Symbol: GCK
GCK 		glucokinase 0.523 0.808 0.63
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.900 strong 0.953 2 0 1992 2020
Entrez Id: 3667
Gene Symbol: IRS1
IRS1 		insulin receptor substrate 1 0.488 0.769 2.4E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.900 None 0.939 2 0 1993 2019
Entrez Id: 4041
Gene Symbol: LRP5
LRP5 		LDL receptor related protein 5 0.485 0.846 0.51
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease 0.900 strong 0.976 2 0 2004 2019
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0024299
Disease: Lymphoma
Lymphoma 		group 0.900 strong 0.955 2 0 1998 2020
Entrez Id: 7225
Gene Symbol: TRPC6
TRPC6 		transient receptor potential cation channel subfamily C member 6 0.514 0.692 3.0E-07
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease 0.900 strong 1.000 2 0 2005 2019
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