Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554201018
rs1554201018
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		A 0.700 CausalMutation CLINVAR Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia. 27226478

2016
dbSNP: rs1554201018
rs1554201018
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		A 0.700 CausalMutation CLINVAR Palmoplantar keratosis in oculodentodigital dysplasia with a GJA1 point mutation out of the C-terminal region of connexin 43. 25388818

2014
dbSNP: rs1554201018
rs1554201018
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		A 0.700 CausalMutation CLINVAR GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. 19338053

2009
dbSNP: rs1554201018
rs1554201018
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		A 0.700 CausalMutation CLINVAR Novel mutations in GJA1 cause oculodentodigital syndrome. 18946008

2008
dbSNP: rs1554201018
rs1554201018
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		A 0.700 CausalMutation CLINVAR The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans. 18003637

2008
dbSNP: rs1554201018
rs1554201018
GJA1
CUI: C2749477
Disease: Oculodentodigital Dysplasia, Autosomal Recessive
Oculodentodigital Dysplasia, Autosomal Recessive 		A 0.700 CausalMutation CLINVAR Identification of the calmodulin binding domain of connexin 43. 17901047

2007