ADAM22, ADAM metallopeptidase domain 22, 53616

N. diseases: 35; N. variants: 4
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs747259064
rs747259064
Entrez Id: 53616
Gene Symbol: ADAM22
ADAM22
CUI: C4693688
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61 		0.800 GeneticVariation UNIPROT Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy. 27066583 2016
dbSNP: rs747259064
rs747259064
Entrez Id: 53616
Gene Symbol: ADAM22
ADAM22
CUI: C4693688
Disease:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61 		A 0.800 CausalMutation CLINVAR