Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs779101828
rs779101828
Entrez Id: 3739
Gene Symbol: KCNA4
KCNA4
CUI: C4748984
Disease:
MICROCEPHALY, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DYSTONIA WITH ABNORMAL STRIATUM 		0.700 GeneticVariation UNIPROT KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability. 27582084 2016