Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434530
rs121434530
NAGA
0.800 GeneticVariation UNIPROT A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation. 11251574

2001
dbSNP: rs121434530
rs121434530
NAGA
0.800 GeneticVariation UNIPROT The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria. 8040340

1994
dbSNP: rs121434530
rs121434530
NAGA
A 0.800 CausalMutation CLINVAR