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: 3064
Gene Symbol: HTT
HTT 		huntingtin 0.548 0.654 1.00
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease 1.000 limited 0.987 15 0 1993 2020
Entrez Id: 1419
Gene Symbol: CRYGB
CRYGB 		crystallin gamma B 0.780 0.269 8.1E-08
CUI: C3808800
Disease: CATARACT 39, MULTIPLE TYPES
CATARACT 39, MULTIPLE TYPES 		disease 0.800 limited 1.000 4 0 1984 2012
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		phenotype 1.000 limited 0.995 4 0 1997 2020
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		ATP binding cassette subfamily A member 4 0.493 0.769 5.3E-48
CUI: C1858080
Disease: Retinal Dystrophy, Early Onset Severe
Retinal Dystrophy, Early Onset Severe 		disease 0.600 limited 1.000 4 0 1999 2018
Entrez Id: 488
Gene Symbol: ATP2A2
ATP2A2 		ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 0.529 0.808 1.00
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease 1.000 limited 0.974 4 0 1999 2018
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		phosphodiesterase 6B 0.626 0.346 2.6E-27
CUI: C3151107
Disease: RETINITIS PIGMENTOSA 40 (disorder)
RETINITIS PIGMENTOSA 40 (disorder) 		disease 0.900 limited 1.000 4 0 1993 2016
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN 		small nuclear ribonucleoprotein polypeptide N 0.538 0.731 4.3E-02
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		disease 0.800 limited 0.972 4 0 1992 2019
Entrez Id: 1750
Gene Symbol: DLX6
DLX6 		distal-less homeobox 6 0.659 0.615 0.92
CUI: C2931019
Disease: Split hand foot deformity 1
Split hand foot deformity 1 		disease 0.550 limited 1.000 3 0 2002 2017
Entrez Id: 1959
Gene Symbol: EGR2
EGR2 		early growth response 2 0.547 0.769 0.50
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		disease 0.940 limited 1.000 3 0 1999 2019
Entrez Id: 27232
Gene Symbol: GNMT
GNMT 		glycine N-methyltransferase 0.626 0.462 2.8E-03
CUI: C1847720
Disease: Hypermethioninemia due to deficiency of glycine N-methyltransferase
Hypermethioninemia due to deficiency of glycine N-methyltransferase 		disease 0.900 limited 1.000 3 0 2000 2017
Entrez Id: 4594
Gene Symbol: MMUT
MMUT 		methylmalonyl-CoA mutase 0.534 0.731 1.7E-22
CUI: C1855115
Disease: Methylmalonic Aciduria, mut(0) Type
Methylmalonic Aciduria, mut(0) Type 		disease 0.800 limited 1.000 3 0 2003 2016
Entrez Id: 5538
Gene Symbol: PPT1
PPT1 		palmitoyl-protein thioesterase 1 0.593 0.808 4.9E-05
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis 		disease 0.600 limited 0.951 3 0 1996 2019
Entrez Id: 6247
Gene Symbol: RS1
RS1 		retinoschisin 1 0.686 0.500 0.96
CUI: C3714753
Disease: RETINOSCHISIS 1, X-LINKED, JUVENILE
RETINOSCHISIS 1, X-LINKED, JUVENILE 		disease 0.810 limited 1.000 3 0 1997 2017
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		disease 0.800 limited 1.000 2 0 1993 2019
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		AKT serine/threonine kinase 1 0.311 0.962 0.98
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease 0.900 limited 0.865 2 0 2001 2019
Entrez Id: 2202
Gene Symbol: EFEMP1
EFEMP1 		EGF containing fibulin extracellular matrix protein 1 0.540 0.769 1.00
CUI: C1832174
Disease: DOYNE HONEYCOMB RETINAL DYSTROPHY
DOYNE HONEYCOMB RETINAL DYSTROPHY 		disease 1.000 limited 0.947 2 0 1999 2018
Entrez Id: 23414
Gene Symbol: ZFPM2
ZFPM2 		zinc finger protein, FOG family member 2 0.565 0.731 1.00
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		disease 1.000 limited 0.929 2 0 2000 2018
Entrez Id: 2780
Gene Symbol: GNAT2
GNAT2 		G protein subunit alpha transducin 2 0.674 0.231 7.0E-06
CUI: C1841721
Disease: ACHROMATOPSIA 4
ACHROMATOPSIA 4 		disease 0.810 limited 1.000 2 0 2002 2013
Entrez Id: 3814
Gene Symbol: KISS1
KISS1 		KiSS-1 metastasis suppressor 0.507 0.808 0.49
CUI: C3541462
Disease: HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA 		disease 0.900 limited 1.000 2 0 2007 2012
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		peripherin 2 0.551 0.500 0.12
CUI: C1842475
Disease: Retinitis Pigmentosa 7
Retinitis Pigmentosa 7 		disease 0.910 limited 1.000 2 0 1985 2016
Entrez Id: 7051
Gene Symbol: TGM1
TGM1 		transglutaminase 1 0.565 0.769 2.3E-13
CUI: C0079154
Disease: Congenital Nonbullous Ichthyosiform Erythroderma
Congenital Nonbullous Ichthyosiform Erythroderma 		disease 1.000 limited 1.000 2 0 1994 2019
Entrez Id: 7084
Gene Symbol: TK2
TK2 		thymidine kinase 2 0.585 0.615 3.9E-07
CUI: C3501891
Disease: Mitochondrial DNA Depletion Syndrome, Myopathic Form
Mitochondrial DNA Depletion Syndrome, Myopathic Form 		disease 0.500 limited 1.000 2 0 2008 2011
Entrez Id: 9181
Gene Symbol: ARHGEF2
ARHGEF2 		Rho/Rac guanine nucleotide exchange factor 2 0.502 0.769 1.00
CUI: C4479613
Disease: NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS
NEURODEVELOPMENTAL DISORDER WITH MIDBRAIN AND HINDBRAIN MALFORMATIONS 		disease 0.500 limited 1.000 2 0 2014 2017
Entrez Id: 9211
Gene Symbol: LGI1
LGI1 		leucine rich glioma inactivated 1 0.568 0.731 1.00
CUI: C1838062
Disease: Autosomal Dominant Lateral Temporal Lobe Epilepsy
Autosomal Dominant Lateral Temporal Lobe Epilepsy 		disease 0.800 limited 0.927 2 0 2002 2020
Entrez Id: 10060
Gene Symbol: ABCC9
ABCC9 		ATP binding cassette subfamily C member 9 0.552 0.692 9.4E-09
CUI: C0042514
Disease: Tachycardia, Ventricular
Tachycardia, Ventricular 		disease 0.600 limited 1.000 1 0 2004 2005