Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		1.000 GeneticVariation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0812437
Disease: Oculo-dento-digital syndrome
Oculo-dento-digital syndrome 		1.000 CausalMutation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C1861366
Disease: SYNDACTYLY, TYPE III
SYNDACTYLY, TYPE III 		0.720 CausalMutation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.700 Biomarker HPO

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0152101
Disease: Hypoplastic Left Heart Syndrome
Hypoplastic Left Heart Syndrome 		0.700 Biomarker HPO

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C2931244
Disease: Craniometaphyseal dysplasia, autosomal recessive type
Craniometaphyseal dysplasia, autosomal recessive type 		0.700 CausalMutation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C3151468
Disease: PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1 		0.620 CausalMutation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.610 Biomarker HPO

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.600 CausalMutation CLINVAR Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia. 27226478

2016
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.600 CausalMutation CLINVAR Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. 25388818

2014
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.600 CausalMutation CLINVAR GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. 19338053

2009
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.600 CausalMutation CLINVAR Novel mutations in GJA1 cause oculodentodigital syndrome. 18946008

2008
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.600 CausalMutation CLINVAR The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans. 18003637

2008
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.600 CausalMutation CLINVAR Identification of the calmodulin binding domain of connexin 43. 17901047

2007
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		0.600 GeneticVariation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C4479619
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3 		0.600 CausalMutation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C4551854
Disease: HYPOPLASTIC LEFT HEART SYNDROME 1
HYPOPLASTIC LEFT HEART SYNDROME 1 		0.600 CausalMutation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.450 Biomarker HPO

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms 		0.410 Biomarker HPO

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C3275750
Disease: ATRIOVENTRICULAR SEPTAL DEFECT 3
ATRIOVENTRICULAR SEPTAL DEFECT 3 		0.400 CausalMutation CLINVAR

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.200 Biomarker HPO

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.180 Biomarker HPO

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0036572
Disease: Seizures
Seizures 		0.140 Biomarker HPO

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.130 Biomarker HPO

Entrez Id: 2697
Gene Symbol: GJA1
GJA1
CUI: C0015230
Disease: Exanthema
Exanthema 		0.120 Biomarker HPO