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: 7547
Gene Symbol: ZIC3
ZIC3 		Zic family member 3 0.587 0.423 0.92
CUI: C1853444
Disease: Heterotaxy, Visceral, 3, Autosomal
Heterotaxy, Visceral, 3, Autosomal 		disease 0.200 None 1.000 7 0 1952 2013
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		Zic family member 3 0.587 0.423 0.92
CUI: C3151057
Disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL
HETEROTAXY, VISCERAL, 4, AUTOSOMAL 		disease 0.200 None 1.000 7 0 1952 2013
Entrez Id: 7547
Gene Symbol: ZIC3
ZIC3 		Zic family member 3 0.587 0.423 0.92
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
HETEROTAXY, VISCERAL, 6, AUTOSOMAL 		disease 0.200 None 1.000 7 0 1952 2013
Entrez Id: 102723475
Gene Symbol: KCNE1B
KCNE1B 		potassium voltage-gated channel subfamily E regulatory subunit 1B 1.000 0.077
CUI: C0022387
Disease: Jervell-Lange Nielsen Syndrome
Jervell-Lange Nielsen Syndrome 		disease 0.200 None 1.000 6 0 1996 2005
Entrez Id: 102724652
Gene Symbol: CRYAA2
CRYAA2 		crystallin alpha A2 0.821 0.192
CUI: C1858679
Disease: CATARACT, AUTOSOMAL DOMINANT
CATARACT, AUTOSOMAL DOMINANT 		disease 0.200 None 1.000 6 0 1996 2009
Entrez Id: 102724652
Gene Symbol: CRYAA2
CRYAA2 		crystallin alpha A2 0.821 0.192
CUI: C3888098
Disease: Cataract, Autosomal Recessive Congenital 1
Cataract, Autosomal Recessive Congenital 1 		disease 0.200 None 1.000 6 0 1996 2009
Entrez Id: 1813
Gene Symbol: DRD2
DRD2 		dopamine receptor D2 0.436 0.846 0.75
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome 		disease 0.200 None 1.000 6 0 1995 2002
Entrez Id: 1813
Gene Symbol: DRD2
DRD2 		dopamine receptor D2 0.436 0.846 0.75
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		disease 0.200 None 1.000 6 0 1995 2002
Entrez Id: 1861
Gene Symbol: TOR1A
TOR1A 		torsin family 1 member A 0.566 0.731 5.1E-04
CUI: C2875058
Disease: Familial torsion dystonia
Familial torsion dystonia 		disease 0.200 None 1.000 6 0 2005 2015
Entrez Id: 25861
Gene Symbol: WHRN
WHRN 		whirlin 0.670 0.385 7.7E-05
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		disease 0.200 None 1.000 6 0 1967 2010
Entrez Id: 3290
Gene Symbol: HSD11B1
HSD11B1 		hydroxysteroid 11-beta dehydrogenase 1 0.520 0.731 0.42
CUI: C4329210
Disease: 11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency
11-Beta-Hydroxysteroid Dehydrogenase Type 1 Deficiency 		disease 0.200 None 1.000 6 0 1997 2004
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2 		heparan sulfate proteoglycan 2 0.438 0.885 1.0E-19
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		disease 0.200 None 1.000 6 0 1999 2003
Entrez Id: 3630
Gene Symbol: INS
INS 		insulin 0.445 0.923 0.30
CUI: C1299614
Disease: Non-insulin-dependent diabetes mellitus with unspecified complications
Non-insulin-dependent diabetes mellitus with unspecified complications 		disease 0.200 None 1.000 6 0 1997 2007
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0024624
Disease: Malignant neoplasm of upper lobe, bronchus or lung
Malignant neoplasm of upper lobe, bronchus or lung 		disease 0.200 None 1.000 6 0 2001 2014
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0153491
Disease: Malignant neoplasm of middle lobe, bronchus or lung
Malignant neoplasm of middle lobe, bronchus or lung 		disease 0.200 None 1.000 6 0 2001 2014
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0153492
Disease: Malignant neoplasm of lower lobe, bronchus or lung
Malignant neoplasm of lower lobe, bronchus or lung 		disease 0.200 None 1.000 6 0 2001 2014
Entrez Id: 3845
Gene Symbol: KRAS
KRAS 		KRAS proto-oncogene, GTPase 0.320 0.923 7.9E-04
CUI: C0153493
Disease: Malignant neoplasm of other parts of bronchus or lung
Malignant neoplasm of other parts of bronchus or lung 		disease 0.200 None 1.000 6 0 2001 2014
Entrez Id: 4068
Gene Symbol: SH2D1A
SH2D1A 		SH2 domain containing 1A 0.525 0.731 0.39
CUI: C0451697
Disease: Immunodeficiency following hereditary defective response to Epstein-Barr virus
Immunodeficiency following hereditary defective response to Epstein-Barr virus 		phenotype 0.200 None 1.000 6 0 2001 2012
Entrez Id: 4137
Gene Symbol: MAPT
MAPT 		microtubule associated protein tau 0.446 0.923 6.0E-03
CUI: C0029227
Disease: Delirium, Dementia, Amnestic, Cognitive Disorders
Delirium, Dementia, Amnestic, Cognitive Disorders 		group 0.200 None 1.000 6 0 2013 2017
Entrez Id: 4358
Gene Symbol: MPV17
MPV17 		mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C1567744
Disease: Alport Syndrome, Autosomal Recessive
Alport Syndrome, Autosomal Recessive 		disease 0.200 None 1.000 6 0 1990 2009
Entrez Id: 4358
Gene Symbol: MPV17
MPV17 		mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C2931254
Disease: Alport syndrome, recessive type
Alport syndrome, recessive type 		disease 0.200 None 1.000 6 0 1990 2009
Entrez Id: 4358
Gene Symbol: MPV17
MPV17 		mitochondrial inner membrane protein MPV17 0.595 0.577 9.7E-11
CUI: C4746745
Disease: ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE 		disease 0.200 None 1.000 6 0 1990 2009
Entrez Id: 5308
Gene Symbol: PITX2
PITX2 		paired like homeodomain 2 0.489 0.808 0.98
CUI: C0477984
Disease: Other congenital malformations of anterior segment of eye
Other congenital malformations of anterior segment of eye 		disease 0.200 None 1.000 6 0 1999 2003
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C1408174
Disease: Hypertrophic neuropathy of infancy
Hypertrophic neuropathy of infancy 		disease 0.200 None 1.000 6 0 1997 2007
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		peripheral myelin protein 22 0.471 0.885 0.91
CUI: C1408182
Disease: Hereditary motor and sensory neuropathy, types I-IV
Hereditary motor and sensory neuropathy, types I-IV 		disease 0.200 None 1.000 6 0 1997 2007