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: 355
Gene Symbol: FAS
FAS
Fas cell surface death receptor 0.372 0.923 0.81
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome
disease 0.200 None 1.000 22 0 1978 2007
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0029607
Disease: Other emphysema
Other emphysema
phenotype 0.200 None 1.000 20 0 1980 2001
Entrez Id: 51542
Gene Symbol: VPS54
VPS54
VPS54 subunit of GARP complex 0.769 0.231 1.00
HMN (Hereditary Motor Neuropathy) Proximal Type I
disease 0.200 None 1.000 15 0 1968 1994
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6
biogenesis of lysosomal organelles complex 1 subunit 6 0.769 0.308 8.0E-09
CUI: C0029607
Disease: Other emphysema
Other emphysema
phenotype 0.200 None 1.000 12 0 1971 2015
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
USHER SYNDROME, TYPE ID/F, CDH23/PCDH15, DIGENIC
disease 0.200 None 1.000 12 0 1966 2008
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: 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: 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
Sensorineural hearing loss, bilateral
disease 0.200 None 1.000 8 0 1980 2012
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
cytochrome P450 family 19 subfamily A member 1 0.410 0.885 1.7E-05
CUI: C0086981
Disease: Sicca Syndrome
Sicca Syndrome
disease 0.200 None 1.000 8 0 1998 2015
Entrez Id: 1958
Gene Symbol: EGR1
EGR1
early growth response 1 0.433 0.923 0.35
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia
phenotype 0.200 None 1.000 8 0 2004 2009
Entrez Id: 585
Gene Symbol: BBS4
BBS4
Bardet-Biedl syndrome 4 0.647 0.615 1.5E-16
Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM
disease 0.200 None 1.000 8 0 2004 2019
Entrez Id: 6010
Gene Symbol: RHO
RHO
rhodopsin 0.525 0.769 1.3E-04
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 8 0 1997 2017
Entrez Id: 8456
Gene Symbol: FOXN1
FOXN1
forkhead box N1 0.615 0.654 0.94
Immunodeficiency associated with other specified major defects
disease 0.200 None 1.000 8 0 1966 2011
Entrez Id: 89781
Gene Symbol: HPS4
HPS4
HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 0.743 0.385 1.4E-04
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency
disease 0.200 None 1.000 8 0 1978 2002
Entrez Id: 286
Gene Symbol: ANK1
ANK1
ankyrin 1 0.540 0.885 1.00
CUI: C0024530
Disease: Malaria
Malaria
disease 0.200 None 1.000 7 0 1978 2012
Entrez Id: 4060
Gene Symbol: LUM
LUM
lumican 0.543 0.731 7.7E-02
CUI: C0268335
Disease: Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 1
disease 0.200 None 1.000 7 0 1998 2004
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
retinoid isomerohydrolase RPE65 0.417 0.808 6.5E-14
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy
group 0.200 None 1.000 7 0 1998 2008
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome
disease 0.200 None 1.000 7 0 1999 2011
Entrez Id: 7422
Gene Symbol: VEGFA
VEGFA
vascular endothelial growth factor A 0.266 0.923 2.4E-05
CUI: C0020192
Disease: Hyaline Membrane Disease
Hyaline Membrane Disease
disease 0.200 None 1.000 7 0 1999 2011
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3
Zic family member 3 0.587 0.423 0.92
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL
disease 0.200 None 1.000 7 0 1952 2013