Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554200990
rs1554200990
GJA1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. 28106320

2017
dbSNP: rs1554200990
rs1554200990
GJA1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia. 27226478

2016
dbSNP: rs1554200990
rs1554200990
GJA1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR A novel GJA1 mutation identified by whole exome sequencing in a Chinese family with autosomal dominant syndactyly. 27241686

2016
dbSNP: rs1554200990
rs1554200990
GJA1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family. 25976645

2015
dbSNP: rs1554200990
rs1554200990
GJA1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Overview of skin diseases linked to connexin gene mutations. 23675785

2014
dbSNP: rs1554200990
rs1554200990
GJA1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Neurological manifestations of oculodentodigital dysplasia: a Cx43 channelopathy of the central nervous system? 24133447

2013
dbSNP: rs1554200990
rs1554200990
GJA1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Mutation analysis of Connexon43 gene in Chinese patients with congenital heart defects. 19615768

2010
dbSNP: rs1554200990
rs1554200990
GJA1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. 19338053

2009
dbSNP: rs1554200990
rs1554200990
GJA1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants. 16531323

2007
dbSNP: rs1554200990
rs1554200990
GJA1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome. 16816024

2006
dbSNP: rs1554200990
rs1554200990
GJA1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype. 14974090

2004
dbSNP: rs1554200990
rs1554200990
GJA1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. 12457340

2003