Source: MGD

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 41 0 1966 2019
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
fibrillin 1 0.417 0.846 1.00
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome
disease 1.000 definitive 0.986 33 0 1973 2020
Entrez Id: 3953
Gene Symbol: LEPR
LEPR
leptin receptor 0.433 0.808 0.99
Diabetes Mellitus, Non-Insulin-Dependent
disease 0.600 None 0.975 32 0 1966 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD
dystrophin 0.423 0.923 1.00
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne
disease 1.000 strong 0.980 23 0 1981 2020
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 23 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: 4204
Gene Symbol: MECP2
MECP2
methyl-CpG binding protein 2 0.414 0.846 0.89
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome
disease 1.000 definitive 0.977 22 0 1975 2020
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: 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: 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 19 0 1989 2020
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 18 0 1968 2019
Entrez Id: 5009
Gene Symbol: OTC
OTC
ornithine carbamoyltransferase 0.565 0.846 0.87
Ornithine carbamoyltransferase deficiency
disease 1.000 definitive 1.000 17 0 1976 2018
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: 355
Gene Symbol: FAS
FAS
Fas cell surface death receptor 0.372 0.923 0.81
Autoimmune Lymphoproliferative Syndrome
disease 1.000 strong 1.000 15 0 1978 2018
Entrez Id: 3949
Gene Symbol: LDLR
LDLR
low density lipoprotein receptor 0.449 0.885 9.8E-24
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial
disease 0.900 strong 0.982 15 0 1964 2020
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 15 0 1976 2019
Entrez Id: 51542
Gene Symbol: VPS54
VPS54
VPS54 subunit of GARP complex 0.769 0.231 1.00
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: 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: 3064
Gene Symbol: HTT
HTT
huntingtin 0.548 0.654 1.00
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
disease 1.000 limited 0.987 13 0 1993 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 13 0 1953 2020
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