Source: INFERRED

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: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome
disease 1.000 None 1.000 0 12 1975 2019
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C1861366
Disease: SYNDACTYLY, TYPE III
SYNDACTYLY, TYPE III
disease 0.720 strong 1.000 0 1 2003 2013
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
phenotype 0.700 None 0.969 0 0 2006 2019
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
Craniometaphyseal dysplasia, autosomal recessive type
disease 0.700 strong 1.000 0 1 2013 2013
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome
disease 0.700 None 1.000 0 0 2001 2009
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
disease 0.620 strong 1.000 0 1 2006 2019
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group 0.610 None 1.000 0 0 2006 2017
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
Oculodentodigital Dysplasia, Autosomal Recessive
disease 0.600 strong 1.000 6 6 2007 2016
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
disease 0.600 strong 1.000 0 1 2006 2015
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C4551854
Disease: HYPOPLASTIC LEFT HEART SYNDROME 1
HYPOPLASTIC LEFT HEART SYNDROME 1
disease 0.600 None 1.000 0 1 2001 2011
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar
disease 0.450 strong 1.000 0 0 2005 2016
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
group 0.410 None 1.000 0 0 1995 2019
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C3275750
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 3
ATRIOVENTRICULAR SEPTAL DEFECT 3
disease 0.400 None 1.000 0 1 2001 2001
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
disease 0.200 None 1.000 0 0 2003 2019
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0017601
Disease: Glaucoma
Glaucoma
disease 0.180 None 1.000 0 0 2005 2019
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.140 None 1.000 0 0 2011 2018
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
group 0.130 None 1.000 0 0 2016 2017
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0015230
Disease: Exanthema
Exanthema
phenotype 0.120 None 1.000 0 0 2018 2018
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0266544
Disease: Microcornea
Microcornea
disease 0.120 None 1.000 0 0 2015 2019
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0022596
Disease: Palmoplantar Keratosis
Palmoplantar Keratosis
disease 0.120 None 1.000 0 0 2006 2014
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0086543
Disease: Cataract
Cataract
disease 0.120 None 1.000 0 0 2000 2009
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects
group 0.120 None 1.000 0 0 2013 2018
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
Idiopathic pulmonary arterial hypertension
disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0263383
Disease: Keratosis pilaris
Keratosis pilaris
disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
gap junction protein alpha 1 0.393 0.885 0.16
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae
phenotype 0.110 None 1.000 0 1 2012 2012