DisGeNET - a database of gene-disease associations

Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness, C0403554

Variant: rs781838938 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs781838938

ATP6V1B1 ; VAX2

0.800

GeneticVariation

UNIPROT

Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis.

12579397

2003

dbSNP:

rs781838938

ATP6V1B1 ; VAX2

0.800

GeneticVariation

UNIPROT

Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss.

12414817

2002

dbSNP:

rs781838938

ATP6V1B1 ; VAX2

0.800

GeneticVariation

UNIPROT

Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness.

9916796

1999

dbSNP:

rs781838938

ATP6V1B1 ; VAX2

0.800

CausalMutation

CLINVAR