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: 2184
Gene Symbol: FAH
FAH 		fumarylacetoacetate hydrolase 0.612 0.538 4.0E-17
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		disease 1.000 definitive 0.990 5 0 1981 2019
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		fibroblast growth factor receptor 3 0.391 0.846 1.6E-05
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		disease 1.000 definitive 0.974 5 0 1994 2020
Entrez Id: 2581
Gene Symbol: GALC
GALC 		galactosylceramidase 0.604 0.615 5.2E-15
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy 		disease 1.000 None 1.000 5 0 1970 2020
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2 		BSCL2 lipid droplet biogenesis associated, seipin 0.545 0.692 1.1E-09
CUI: C1720863
Disease: Congenital Generalized Lipodystrophy Type 2
Congenital Generalized Lipodystrophy Type 2 		disease 1.000 None 1.000 5 0 2001 2019
Entrez Id: 3073
Gene Symbol: HEXA
HEXA 		hexosaminidase subunit alpha 0.633 0.615 1.3E-11
CUI: C0039373
Disease: Tay-Sachs Disease
Tay-Sachs Disease 		disease 1.000 None 1.000 5 0 1982 2019
Entrez Id: 326
Gene Symbol: AIRE
AIRE 		autoimmune regulator 0.516 0.808 4.0E-12
CUI: C0085859
Disease: Polyglandular Type I Autoimmune Syndrome
Polyglandular Type I Autoimmune Syndrome 		disease 1.000 None 0.985 5 0 1991 2020
Entrez Id: 3766
Gene Symbol: KCNJ10
KCNJ10 		potassium inwardly rectifying channel subfamily J member 10 0.599 0.654 0.15
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome 		disease 1.000 strong 1.000 5 0 1997 2019
Entrez Id: 378884
Gene Symbol: NHLRC1
NHLRC1 		NHL repeat containing E3 ubiquitin protein ligase 1 0.656 0.423 9.4E-02
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		disease 1.000 None 0.980 5 0 2003 2019
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		myelin protein zero 0.503 0.846 0.27
CUI: C0011195
Disease: Dejerine-Sottas Disease (disorder)
Dejerine-Sottas Disease (disorder) 		disease 1.000 None 1.000 5 0 1992 2019
Entrez Id: 4359
Gene Symbol: MPZ
MPZ 		myelin protein zero 0.503 0.846 0.27
CUI: C0270912
Disease: Charcot-Marie-Tooth Disease, Type Ib
Charcot-Marie-Tooth Disease, Type Ib 		disease 1.000 None 1.000 5 0 1992 2019
Entrez Id: 5071
Gene Symbol: PRKN
PRKN 		parkin RBR E3 ubiquitin protein ligase 0.431 0.846 6.9E-07
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		disease 1.000 None 0.994 5 0 1998 2019
Entrez Id: 5076
Gene Symbol: PAX2
PAX2 		paired box 2 0.495 0.731 0.67
CUI: C1852759
Disease: Papillorenal syndrome
Papillorenal syndrome 		disease 1.000 strong 1.000 5 0 1995 2019
Entrez Id: 5080
Gene Symbol: PAX6
PAX6 		paired box 6 0.450 0.769 1.00
CUI: C0003076
Disease: Aniridia
Aniridia 		disease 1.000 None 0.984 5 0 1978 2020
Entrez Id: 5172
Gene Symbol: SLC26A4
SLC26A4 		solute carrier family 26 member 4 0.507 0.885 9.0E-22
CUI: C0271829
Disease: Pendred's syndrome
Pendred's syndrome 		disease 1.000 definitive 1.000 5 0 1996 2019
Entrez Id: 5313
Gene Symbol: PKLR
PKLR 		pyruvate kinase L/R 0.603 0.615 3.5E-07
CUI: C0340968
Disease: Deficiency of pyruvate kinase
Deficiency of pyruvate kinase 		disease 1.000 strong 1.000 5 0 1991 2019
Entrez Id: 6197
Gene Symbol: RPS6KA3
RPS6KA3 		ribosomal protein S6 kinase A3 0.491 0.846 1.00
CUI: C0265252
Disease: Coffin-Lowry syndrome
Coffin-Lowry syndrome 		disease 1.000 definitive 0.983 5 0 1996 2020
Entrez Id: 6442
Gene Symbol: SGCA
SGCA 		sarcoglycan alpha 0.592 0.654 2.7E-03
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathies 		disease 1.000 None 1.000 5 0 1994 2019
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		disease 1.000 None 0.960 5 0 1996 2019
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1 		twist family bHLH transcription factor 1 0.397 0.846 0.34
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		disease 1.000 strong 0.986 5 0 1995 2019
Entrez Id: 7490
Gene Symbol: WT1
WT1 		WT1 transcription factor 0.422 0.808 1.00
CUI: C0950121
Disease: Denys-Drash Syndrome
Denys-Drash Syndrome 		disease 1.000 None 0.982 5 0 1991 2018
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F 		calcium voltage-gated channel subunit alpha1 F 0.595 0.500 1.2E-05
CUI: C1848172
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A 		disease 1.000 None 1.000 5 0 1998 2019
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2 		solute carrier family 19 member 2 0.636 0.692 4.3E-04
CUI: C0342287
Disease: Thiamine responsive megaloblastic anemia syndrome
Thiamine responsive megaloblastic anemia syndrome 		disease 1.000 None 1.000 4 0 1997 2019
Entrez Id: 1910
Gene Symbol: EDNRB
EDNRB 		endothelin receptor type B 0.470 0.846 9.2E-03
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		disease 1.000 moderate 1.000 4 0 1994 2018
Entrez Id: 2158
Gene Symbol: F9
F9 		coagulation factor IX 0.465 0.885 1.00
CUI: C0008533
Disease: Hemophilia B
Hemophilia B 		disease 1.000 definitive 0.979 4 0 1976 2020
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