Source: ANIMAL_MODELS

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: 64072
Gene Symbol: CDH23
CDH23 		cadherin related 23 0.539 0.769 3.2E-06
CUI: C1832845
Disease: USHER SYNDROME, TYPE ID
USHER SYNDROME, TYPE ID 		disease 0.860 None 0.960 12 0 1966 2016
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		cadherin related 23 0.539 0.769 3.2E-06
CUI: C3152102
Disease: USH1D/F, CDH23/PCDH15, DIGENIC
USH1D/F, CDH23/PCDH15, DIGENIC 		disease 0.200 None 1.000 12 0 1966 2008
Entrez Id: 64072
Gene Symbol: CDH23
CDH23 		cadherin related 23 0.539 0.769 3.2E-06
CUI: C3275872
Disease: USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC
USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC 		disease 0.200 None 1.000 12 0 1966 2008
Entrez Id: 3077
Gene Symbol: HFE
HFE 		homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C0012715
Disease: Iron Metabolism Disorders
Iron Metabolism Disorders 		group 0.300 None 1.000 11 0 1999 2014
Entrez Id: 3077
Gene Symbol: HFE
HFE 		homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		disease 0.700 None 0.975 11 0 1991 2020
Entrez Id: 3077
Gene Symbol: HFE
HFE 		homeostatic iron regulator 0.436 0.846 2.6E-08
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		disease 0.900 None 0.979 11 0 1987 2019
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		nitric oxide synthase 1 0.408 0.885 1.00
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
Pyloric Stenosis, Hypertrophic 		disease 0.240 None 1.000 11 0 1993 2011
Entrez Id: 6531
Gene Symbol: SLC6A3
SLC6A3 		solute carrier family 6 member 3 0.453 0.885 1.00
CUI: C0041671
Disease: Attention Deficit Disorder
Attention Deficit Disorder 		disease 0.540 None 1.000 11 0 1995 2017
Entrez Id: 7299
Gene Symbol: TYR
TYR 		tyrosinase 0.473 0.808 5.0E-32
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos 		disease 0.200 None 1.000 11 0 1981 2011
Entrez Id: 355
Gene Symbol: FAS
FAS 		Fas cell surface death receptor 0.372 0.923 0.81
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease 0.400 None 0.943 10 0 1978 2020
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		disease 0.640 None 1.000 10 0 1997 2019
Entrez Id: 3949
Gene Symbol: LDLR
LDLR 		low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0015696
Disease: Fatty Liver, Alcoholic
Fatty Liver, Alcoholic 		disease 0.200 None 1.000 10 0 1997 2011
Entrez Id: 4846
Gene Symbol: NOS3
NOS3 		nitric oxide synthase 3 0.378 0.885 6.7E-07
CUI: C0031190
Disease: Persistent Fetal Circulation Syndrome
Persistent Fetal Circulation Syndrome 		disease 0.210 None 1.000 10 0 2000 2018
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		disease 0.700 None 1.000 9 0 1966 2019
Entrez Id: 5314
Gene Symbol: PKHD1
PKHD1 		PKHD1 ciliary IPT domain containing fibrocystin/polyductin 0.576 0.654 1.2E-47
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		disease 1.000 None 1.000 9 0 1975 2019
Entrez Id: 7421
Gene Symbol: VDR
VDR 		vitamin D receptor 0.352 0.885 1.7E-05
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease 0.700 None 0.955 9 0 1995 2019
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1 		adaptor related protein complex 3 subunit beta 1 0.619 0.808 0.62
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.210 None 1.000 9 0 1981 2020
Entrez Id: 8546
Gene Symbol: AP3B1
AP3B1 		adaptor related protein complex 3 subunit beta 1 0.619 0.808 0.62
CUI: C1842362
Disease: HERMANSKY-PUDLAK SYNDROME 2
HERMANSKY-PUDLAK SYNDROME 2 		disease 0.940 None 1.000 9 0 1981 2017
Entrez Id: 860
Gene Symbol: RUNX2
RUNX2 		RUNX family transcription factor 2 0.437 0.846 0.95
CUI: C0008928
Disease: Cleidocranial Dysplasia
Cleidocranial Dysplasia 		disease 1.000 None 0.976 9 0 1997 2019
Entrez Id: 8660
Gene Symbol: IRS2
IRS2 		insulin receptor substrate 2 0.535 0.654 0.99
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.700 None 0.975 9 0 1997 2017
Entrez Id: 9020
Gene Symbol: MAP3K14
MAP3K14 		mitogen-activated protein kinase kinase kinase 14 0.608 0.769
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		disease 0.200 None 1.000 9 0 1996 2008
Entrez Id: 9020
Gene Symbol: MAP3K14
MAP3K14 		mitogen-activated protein kinase kinase kinase 14 0.608 0.769
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		disease 0.200 None 1.000 9 0 1996 2008
Entrez Id: 9020
Gene Symbol: MAP3K14
MAP3K14 		mitogen-activated protein kinase kinase kinase 14 0.608 0.769
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome 		disease 0.200 None 1.000 9 0 1996 2008
Entrez Id: 9020
Gene Symbol: MAP3K14
MAP3K14 		mitogen-activated protein kinase kinase kinase 14 0.608 0.769
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		disease 0.200 None 1.000 9 0 1996 2008
Entrez Id: 117531
Gene Symbol: TMC1
TMC1 		transmembrane channel like 1 0.769 0.346 9.2E-19
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease 0.200 None 1.000 8 0 1980 2012