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: 3953
Gene Symbol: LEPR
LEPR 		leptin receptor 0.433 0.808 0.99
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.700 None 0.930 45 0 1966 2019
Entrez Id: 3953
Gene Symbol: LEPR
LEPR 		leptin receptor 0.433 0.808 0.99
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease 0.600 None 0.975 33 0 1966 2019
Entrez Id: 3952
Gene Symbol: LEP
LEP 		leptin 0.349 0.846 0.46
CUI: C0028754
Disease: Obesity
Obesity 		disease 0.700 None 0.952 28 0 1973 2020
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: 355
Gene Symbol: FAS
FAS 		Fas cell surface death receptor 0.372 0.923 0.81
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		disease 0.210 None 1.000 22 0 1978 2007
Entrez Id: 2200
Gene Symbol: FBN1
FBN1 		fibrillin 1 0.417 0.846 1.00
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease 0.300 None 0.971 21 0 1980 2013
Entrez Id: 1080
Gene Symbol: CFTR
CFTR 		CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease 1.000 None 0.979 20 0 1989 2020
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: 1130
Gene Symbol: LYST
LYST 		lysosomal trafficking regulator 0.621 0.692 1.5E-02
CUI: C0007965
Disease: Chediak-Higashi Syndrome
Chediak-Higashi Syndrome 		disease 1.000 None 0.982 19 0 1968 2019
Entrez Id: 3952
Gene Symbol: LEP
LEP 		leptin 0.349 0.846 0.46
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease 0.600 None 0.992 16 0 1976 2019
Entrez Id: 4842
Gene Symbol: NOS1
NOS1 		nitric oxide synthase 1 0.408 0.885 1.00
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		disease 0.520 None 1.000 16 0 1994 2015
Entrez Id: 51542
Gene Symbol: VPS54
VPS54 		VPS54 subunit of GARP complex 0.769 0.231 1.00
CUI: C0043116
Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
HMN (Hereditary Motor Neuropathy) Proximal Type I 		disease 0.200 None 1.000 15 0 1968 1994
Entrez Id: 2690
Gene Symbol: GHR
GHR 		growth hormone receptor 0.490 0.846 8.4E-05
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		disease 1.000 None 0.980 14 0 1987 2020
Entrez Id: 472
Gene Symbol: ATM
ATM 		ATM serine/threonine kinase 0.374 0.885 5.6E-47
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease 1.000 None 0.982 14 0 1953 2020
Entrez Id: 4846
Gene Symbol: NOS3
NOS3 		nitric oxide synthase 3 0.378 0.885 6.7E-07
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		disease 0.600 None 0.917 14 0 1995 2018
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		disease 1.000 None 0.988 14 0 1995 2019
Entrez Id: 7421
Gene Symbol: VDR
VDR 		vitamin D receptor 0.352 0.885 1.7E-05
CUI: C0035579
Disease: Rickets
Rickets 		disease 0.700 None 0.966 13 0 1989 2019
Entrez Id: 7421
Gene Symbol: VDR
VDR 		vitamin D receptor 0.352 0.885 1.7E-05
CUI: C0221468
Disease: Vitamin D-dependent rickets
Vitamin D-dependent rickets 		disease 0.210 None 1.000 13 0 1997 2018
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: 26258
Gene Symbol: BLOC1S6
BLOC1S6 		biogenesis of lysosomal organelles complex 1 subunit 6 0.769 0.308 8.0E-09
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.220 None 1.000 12 0 1971 2017
Entrez Id: 26258
Gene Symbol: BLOC1S6
BLOC1S6 		biogenesis of lysosomal organelles complex 1 subunit 6 0.769 0.308 8.0E-09
CUI: C3280026
Disease: HERMANSKY-PUDLAK SYNDROME 9
HERMANSKY-PUDLAK SYNDROME 9 		disease 0.810 None 1.000 12 0 1971 2018
Entrez Id: 3257
Gene Symbol: HPS1
HPS1 		HPS1 biogenesis of lysosomal organelles complex 3 subunit 1 0.636 0.692 1.3E-07
CUI: C0032197
Disease: Platelet Storage Pool Deficiency
Platelet Storage Pool Deficiency 		disease 0.210 None 1.000 12 0 1978 2008
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		lamin A/C 0.384 0.885 1.00
CUI: C0033300
Disease: Progeria
Progeria 		disease 1.000 None 0.967 12 0 2003 2020
Entrez Id: 5251
Gene Symbol: PHEX
PHEX 		phosphate regulating endopeptidase homolog X-linked 0.548 0.808 1.00
CUI: C1845168
Disease: Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic Rickets, X-Linked Recessive 		disease 0.500 None 1.000 12 0 1988 2018
Entrez Id: 5251
Gene Symbol: PHEX
PHEX 		phosphate regulating endopeptidase homolog X-linked 0.548 0.808 1.00
CUI: C3540852
Disease: Rickets, X-Linked Hypophosphatemic
Rickets, X-Linked Hypophosphatemic 		disease 0.600 None 1.000 12 0 1988 2020