GJB2, gap junction protein beta 2, 2706

N. diseases: 392; N. variants: 132
Disease: Knuckle pads, leuconychia and sensorineural deafness ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894412
rs104894412
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0266004
Disease:
Knuckle pads, leuconychia and sensorineural deafness 		0.800 GeneticVariation UNIPROT G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome. 15952212 2005
dbSNP: rs104894412
rs104894412
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0266004
Disease:
Knuckle pads, leuconychia and sensorineural deafness 		0.800 GeneticVariation UNIPROT Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. 15482471 2004
dbSNP: rs104894412
rs104894412
Entrez Id: 2706
Gene Symbol: GJB2
GJB2
CUI: C0266004
Disease:
Knuckle pads, leuconychia and sensorineural deafness 		T 0.800 CausalMutation CLINVAR