VAX2, ventral anterior homeobox 2, 25806

N. diseases: 15; N. variants: 16
Disease: Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781838938
rs781838938
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		0.800 GeneticVariation UNIPROT Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. 12579397 2003
dbSNP: rs781838938
rs781838938
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		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
rs781838938
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		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
rs781838938
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		G 0.800 CausalMutation CLINVAR
dbSNP: rs145536062
rs145536062
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		T 0.700 GeneticVariation CLINVAR The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. 28233610 2017
dbSNP: rs1553419751
rs1553419751
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		T 0.700 GeneticVariation CLINVAR The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. 28233610 2017
dbSNP: rs1553420702
rs1553420702
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		C 0.700 CausalMutation CLINVAR Extensive founder effect for distal renal tubular acidosis (dRTA) with sensorineural deafness in an isolated South American population. 18798332 2008
dbSNP: rs121964880
rs121964880
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		0.700 GeneticVariation UNIPROT Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. 12579397 2003
dbSNP: rs782500780
rs782500780
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		0.700 GeneticVariation UNIPROT Confirmation of the ATP6B1 gene as responsible for distal renal tubular acidosis. 12579397 2003
dbSNP: rs121964880
rs121964880
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		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: rs782500780
rs782500780
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		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: rs121964880
rs121964880
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		0.700 GeneticVariation UNIPROT Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. 9916796 1999
dbSNP: rs782500780
rs782500780
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		0.700 GeneticVariation UNIPROT Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness. 9916796 1999
dbSNP: rs1161604514
rs1161604514
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		0.700 GeneticVariation UNIPROT
dbSNP: rs145536062
rs145536062
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		T 0.700 CausalMutation CLINVAR
dbSNP: rs727505222
rs727505222
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		0.700 GeneticVariation UNIPROT
dbSNP: rs782138777
rs782138777
Entrez Id: 525;25806
Gene Symbol: ATP6V1B1;VAX2
ATP6V1B1;VAX2
CUI: C0403554
Disease:
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness 		T 0.700 CausalMutation CLINVAR