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: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		disease 0.900 limited 1.000 1 0 1996 2018
Entrez Id: 23095
Gene Symbol: KIF1B
KIF1B 		kinesin family member 1B 0.516 0.808 1.00
CUI: C1861678
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2a1
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 		disease 0.900 limited 1.000 1 0 2001 2015
Entrez Id: 23568
Gene Symbol: ARL2BP
ARL2BP 		ADP ribosylation factor like GTPase 2 binding protein 0.647 0.654 3.3E-05
CUI: C0154860
Disease: Hereditary retinal dystrophy
Hereditary retinal dystrophy 		group 0.500 limited 1.000 1 0 2013 2018
Entrez Id: 23568
Gene Symbol: ARL2BP
ARL2BP 		ADP ribosylation factor like GTPase 2 binding protein 0.647 0.654 3.3E-05
CUI: C4747737
Disease: RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS
RETINITIS PIGMENTOSA 82 WITH OR WITHOUT SITUS INVERSUS 		disease 0.900 limited 1.000 1 0 2013 2018
Entrez Id: 25794
Gene Symbol: FSCN2
FSCN2 		fascin actin-bundling protein 2, retinal 0.682 0.346 3.8E-13
CUI: C1842816
Disease: RETINITIS PIGMENTOSA 30
RETINITIS PIGMENTOSA 30 		disease 0.700 limited 1.000 1 0 2005 2005
Entrez Id: 2622
Gene Symbol: GAS8
GAS8 		growth arrest specific 8 0.636 0.654 1.1E-12
CUI: C4225230
Disease: CILIARY DYSKINESIA, PRIMARY, 33
CILIARY DYSKINESIA, PRIMARY, 33 		disease 0.900 limited 1.000 1 0 2015 2016
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		guanylate cyclase 2D, retinal 0.570 0.769 6.5E-10
CUI: C1866293
Disease: Retinal cone dystrophy 2
Retinal cone dystrophy 2 		disease 0.980 limited 1.000 1 0 1996 2020
Entrez Id: 3458
Gene Symbol: IFNG
IFNG 		interferon gamma 0.288 0.962 0.47
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		disease 0.900 limited 1.000 1 0 1992 2020
Entrez Id: 367
Gene Symbol: AR
AR 		androgen receptor 0.351 0.846 0.99
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease 1.000 limited 0.982 1 0 1992 2020
Entrez Id: 3984
Gene Symbol: LIMK1
LIMK1 		LIM domain kinase 1 0.488 0.731 1.00
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		disease 0.600 limited 0.867 1 0 1998 2019
Entrez Id: 4312
Gene Symbol: MMP1
MMP1 		matrix metallopeptidase 1 0.385 0.885 7.7E-18
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease 0.900 limited 0.875 1 0 2002 2019
Entrez Id: 5078
Gene Symbol: PAX4
PAX4 		paired box 4 0.644 0.423 4.2E-04
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 1.000 limited 0.857 1 0 1999 2019
Entrez Id: 51293
Gene Symbol: CD320
CD320 		CD320 molecule 0.729 0.462 3.5E-03
CUI: C3150900
Disease: METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT
METHYLMALONIC ACIDURIA, TRANSIENT, DUE TO TRANSCOBALAMIN RECEPTOR DEFECT 		disease 0.900 limited 1.000 1 0 2010 2013
Entrez Id: 5506
Gene Symbol: PPP1R3A
PPP1R3A 		protein phosphatase 1 regulatory subunit 3A 0.711 0.577 9.3E-16
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 1.000 limited 0.929 1 0 1994 2018
Entrez Id: 55775
Gene Symbol: TDP1
TDP1 		tyrosyl-DNA phosphodiesterase 1 0.612 0.538 1.3E-17
CUI: C1846574
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 		disease 0.900 limited 0.923 1 0 2002 2020
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B 		sodium voltage-gated channel beta subunit 3 0.686 0.269 5.1E-02
CUI: C2751088
Disease: Brugada Syndrome 7
Brugada Syndrome 7 		disease 0.900 limited 1.000 1 0 2009 2016
Entrez Id: 5825
Gene Symbol: ABCD3
ABCD3 		ATP binding cassette subfamily D member 3 0.751 0.423 7.8E-03
CUI: C4225390
Disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5
BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 		disease 0.700 limited 1.000 1 0 2015 2015
Entrez Id: 6017
Gene Symbol: RLBP1
RLBP1 		retinaldehyde binding protein 1 0.644 0.500 1.1E-05
CUI: C1843816
Disease: Bothnia Retinal Dystrophy
Bothnia Retinal Dystrophy 		disease 0.900 limited 1.000 1 0 1999 2001
Entrez Id: 6505
Gene Symbol: SLC1A1
SLC1A1 		solute carrier family 1 member 1 0.561 0.654 8.7E-06
CUI: C1857253
Disease: Dicarboxylicaminoaciduria
Dicarboxylicaminoaciduria 		disease 0.910 limited 1.000 1 0 1992 2011
Entrez Id: 7078
Gene Symbol: TIMP3
TIMP3 		TIMP metallopeptidase inhibitor 3 0.445 0.923 0.63
CUI: C1850938
Disease: FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY
FUNDUS DYSTROPHY, PSEUDOINFLAMMATORY, OF SORSBY 		disease 1.000 limited 1.000 1 0 1994 2019
Entrez Id: 7172
Gene Symbol: TPMT
TPMT 		thiopurine S-methyltransferase 0.593 0.692 7.1E-06
CUI: C0342801
Disease: Thiopurine S methyltranferase deficiency
Thiopurine S methyltranferase deficiency 		disease 0.800 limited 1.000 1 0 2000 2019
Entrez Id: 80217
Gene Symbol: CFAP43
CFAP43 		cilia and flagella associated protein 43 0.931 0.038 1.3E-22
CUI: C4539818
Disease: SPERMATOGENIC FAILURE 19
SPERMATOGENIC FAILURE 19 		disease 0.800 limited 1.000 1 0 2017 2018
Entrez Id: 8106
Gene Symbol: PABPN1
PABPN1 		poly(A) binding protein nuclear 1 0.674 0.423 0.39
CUI: C0270952
Disease: Muscular Dystrophy, Oculopharyngeal
Muscular Dystrophy, Oculopharyngeal 		disease 0.900 limited 0.979 1 0 1998 2020
Entrez Id: 91624
Gene Symbol: NEXN
NEXN 		nexilin F-actin binding protein 0.695 0.269 3.9E-11
CUI: C3151267
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 20 		disease 0.900 limited 1.000 1 0 2009 2017
Entrez Id: 9364
Gene Symbol: RAB28
RAB28 		RAB28, member RAS oncogene family 0.792 0.077 2.5E-02
CUI: C3809299
Disease: CONE-ROD DYSTROPHY 18
CONE-ROD DYSTROPHY 18 		disease 0.900 limited 1.000 1 0 2013 2018