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: 10682
Gene Symbol: EBP
EBP
EBP cholestenol delta-isomerase 0.494 0.846 0.94
Brachytelephalangic Chondrodysplasia Punctata
disease 0.200 None 0 0
Entrez Id: 10730
Gene Symbol: YME1L1
YME1L1
YME1 like 1 ATPase 0.633 0.654 2.9E-02
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
group 0.200 None 0 0
Entrez Id: 1075
Gene Symbol: CTSC
CTSC
cathepsin C 0.541 0.731 1.1E-07
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease 0.200 None 0 0
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
PPARG coactivator 1 alpha 0.453 0.885 1.00
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis
disease 0.200 None 0 0
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
PPARG coactivator 1 alpha 0.453 0.885 1.00
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary
group 0.200 None 0 0
Entrez Id: 10891
Gene Symbol: PPARGC1A
PPARGC1A
PPARG coactivator 1 alpha 0.453 0.885 1.00
CUI: C0036529
Disease: Myocardial Diseases, Secondary
Myocardial Diseases, Secondary
group 0.200 None 0 0
Entrez Id: 10928
Gene Symbol: RALBP1
RALBP1
ralA binding protein 1 0.536 0.654 0.15
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease 0.200 None 0 0
Entrez Id: 11064
Gene Symbol: CNTRL
CNTRL
centriolin 0.711 0.423 1.9E-54
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease 0.200 None 0 0
Entrez Id: 11127
Gene Symbol: KIF3A
KIF3A
kinesin family member 3A 0.612 0.615 0.90
CUI: C0013393
Disease: Dysostoses
Dysostoses
disease 0.200 None 0 0
Entrez Id: 11127
Gene Symbol: KIF3A
KIF3A
kinesin family member 3A 0.612 0.615 0.90
Polycystic Kidney, Autosomal Dominant
disease 0.200 None 0 0
Entrez Id: 11127
Gene Symbol: KIF3A
KIF3A
kinesin family member 3A 0.612 0.615 0.90
CUI: C3149841
Disease: POLYCYSTIC KIDNEY DISEASE 1
POLYCYSTIC KIDNEY DISEASE 1
disease 0.200 None 0 0
Entrez Id: 11144
Gene Symbol: DMC1
DMC1
DNA meiotic recombinase 1 0.821 0.269 5.1E-05
Congenital absence of germinal epithelium of testes
disease 0.200 None 0 0
Entrez Id: 11155
Gene Symbol: LDB3
LDB3
LIM domain binding 3 0.659 0.385 9.6E-06
CUI: C3152137
Disease: LEFT VENTRICULAR NONCOMPACTION 3
LEFT VENTRICULAR NONCOMPACTION 3
disease 0.200 None 0 0
Entrez Id: 11155
Gene Symbol: LDB3
LDB3
LIM domain binding 3 0.659 0.385 9.6E-06
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 24
disease 0.200 None 0 0
Entrez Id: 11190
Gene Symbol: CEP250
CEP250
centrosomal protein 250 0.792 0.192 9.4E-33
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
disease 0.200 None 0 0
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
programmed cell death 10 0.631 0.692 0.96
Other malformations of cerebral vessels
disease 0.200 None 0 0
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
programmed cell death 10 0.631 0.692 0.96
CUI: C1956261
Disease: Cerebral Venous Angioma
Cerebral Venous Angioma
disease 0.200 None 0 0
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
programmed cell death 10 0.631 0.692 0.96
Nonruptured congenital cerebral aneurysm
disease 0.200 None 0 0
Entrez Id: 11235
Gene Symbol: PDCD10
PDCD10
programmed cell death 10 0.631 0.692 0.96
Congenital malformation of cerebral vessels NOS
disease 0.200 None 0 0
Entrez Id: 11280
Gene Symbol: SCN11A
SCN11A
sodium voltage-gated channel alpha subunit 11 0.666 0.462 6.9E-26
CUI: C0699739
Disease: Sensory Neuropathy, Hereditary
Sensory Neuropathy, Hereditary
disease 0.200 None 0 0
Entrez Id: 1141
Gene Symbol: CHRNB2
CHRNB2
cholinergic receptor nicotinic beta 2 subunit 0.617 0.308 7.3E-04
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease 0.200 None 0 0
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
NLR family pyrin domain containing 3 0.361 0.962 8.1E-04
CUI: C0157742
Disease: Urticaria due to cold and heat
Urticaria due to cold and heat
disease 0.200 None 0 0
Entrez Id: 118856
Gene Symbol: MMP21
MMP21
matrix metallopeptidase 21 0.621 0.385 1.3E-09
CUI: C1415817
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
HETEROTAXY, VISCERAL, 2, AUTOSOMAL
disease 0.200 None 0 0
Entrez Id: 118856
Gene Symbol: MMP21
MMP21
matrix metallopeptidase 21 0.621 0.385 1.3E-09
CUI: C1844020
Disease: HETEROTAXY, VISCERAL, 1, X-LINKED
HETEROTAXY, VISCERAL, 1, X-LINKED
disease 0.200 None 0 0
Entrez Id: 118856
Gene Symbol: MMP21
MMP21
matrix metallopeptidase 21 0.621 0.385 1.3E-09
CUI: C1853444
Disease: Heterotaxy, Visceral, 3, Autosomal
Heterotaxy, Visceral, 3, Autosomal
disease 0.200 None 0 0