DisGeNET - a database of gene-disease associations

ATP6V0A4, ATPase H+ transporting V0 subunit a4, 50617

N. diseases: 21; N. variants: 13

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1443883930

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864498
Disease:

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

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

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864498
Disease:

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

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

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864498
Disease:

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

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

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864498
Disease:

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

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

dbSNP:

rs763982675

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864498
Disease:

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

CLINVAR

Mutations in ATP6V1B1 and ATP6V0A4 genes cause recessive distal renal tubular acidosis in Mexican families.

27247958

2016

dbSNP:

rs763982675

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864498
Disease:

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

CLINVAR

Whole-exome sequencing as a diagnostic tool for distal renal tubular acidosis.

26208211

2016

dbSNP:

rs754517968

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864498
Disease:

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

CLINVAR

Importance of early audiologic assessment in distal renal tubular acidosis.

23754897

2011

dbSNP:

rs754517968

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864498
Disease:

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

CLINVAR

Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.

16611712

2006

dbSNP:

rs121908368

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864498
Disease:

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

UNIPROT

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

12414817

2002

dbSNP:

rs28939081

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864498
Disease:

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

0.700

GeneticVariation

UNIPROT

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

12414817

2002

dbSNP:

rs121908368

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864498
Disease:

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

0.700

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

dbSNP:

rs28939081

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864498
Disease:

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

0.700

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

dbSNP:

rs121908367

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864498
Disease:

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

dbSNP:

rs121908369

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864499
Disease:

Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss

0.700

CausalMutation

CLINVAR

dbSNP:

rs267606671

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864498
Disease:

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

dbSNP:

rs28939081

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864499
Disease:

Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss

0.700

CausalMutation

CLINVAR

dbSNP:

rs587776615

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864498
Disease:

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

dbSNP:

rs587776616

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864498
Disease:

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

dbSNP:

rs587776617

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1864498
Disease:

RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE

0.700

CausalMutation

CLINVAR

dbSNP:

rs10258719

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C0018784
Disease:

Sensorineural Hearing Loss (disorder)

0.010

GeneticVariation

BEFREE

Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.

24564331

2014

dbSNP:

rs10258719

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C1704380
Disease:

Distal Renal Tubular Acidosis

0.010

GeneticVariation

BEFREE

To the best of our knowledge, this is the first report describing a Turkish girl with dRTA who suffered from early-onset SNHL caused by Val2Ala mutation in the ATP6V0A4 gene.

24564331

2014

dbSNP:

rs115494657

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C0019163
Disease:

Hepatitis B

0.010

GeneticVariation

BEFREE

Two polymorphisms in the HIF-1a gene (rs11549465 and rs115494657) were examined in 157 hepatitis B virus (HBV)-related HCC patients and 173 healthy controls using the polymerase chain reaction-restriction fragment length polymorphism method.

25195037

2014

dbSNP:

rs115494657

Entrez Id:	50617
Gene Symbol:	ATP6V0A4

ATP6V0A4

CUI:	C2239176
Disease:

Liver carcinoma

0.010

GeneticVariation

BEFREE

HIF-1a rs11549465 and rs115494657 polymorphisms appeared to be irrelevant to HBV-related HCC.

25195037

2014