DisGeNET - a database of gene-disease associations

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE, C1864498

Variant: rs1443883930 ×

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:

rs1443883930

ATP6V0A4

0.800

GeneticVariation

CLINVAR

Molecular mechanisms of cutis laxa- and distal renal tubular acidosis-causing mutations in V-ATPase a subunits, ATP6V0A2 and ATP6V0A4.

29311258

2018

dbSNP:

rs1443883930

ATP6V0A4

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:

rs1443883930

ATP6V0A4

0.800

GeneticVariation

CLINVAR

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

12414817

2002

dbSNP:

rs1443883930

ATP6V0A4

0.800

GeneticVariation

UNIPROT

Mutations in ATP6N1B, encoding a new kidney vacuolar proton pump 116-kD subunit, cause recessive distal renal tubular acidosis with preserved hearing.

10973252

2000