AKT3, AKT serine/threonine kinase 3, 10000

N. diseases: 183; N. variants: 21
Disease: Megalencephaly cutis marmorata telangiectatica congenita ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514605
rs397514605
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C1865285
Disease:
Megalencephaly cutis marmorata telangiectatica congenita 		C 0.700 CausalMutation CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757 2017
dbSNP: rs397514605
rs397514605
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C1865285
Disease:
Megalencephaly cutis marmorata telangiectatica congenita 		C 0.700 CausalMutation CLINVAR Sudden death in a case of megalencephaly capillary malformation associated with a de novo mutation in AKT3. 25416470 2015
dbSNP: rs397514605
rs397514605
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C1865285
Disease:
Megalencephaly cutis marmorata telangiectatica congenita 		C 0.700 CausalMutation CLINVAR Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia. 25523067 2015
dbSNP: rs397514605
rs397514605
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C1865285
Disease:
Megalencephaly cutis marmorata telangiectatica congenita 		C 0.700 CausalMutation CLINVAR AKT3 and PIK3R2 mutations in two patients with megalencephaly-related syndromes: MCAP and MPPH. 23745724 2014
dbSNP: rs397514605
rs397514605
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C1865285
Disease:
Megalencephaly cutis marmorata telangiectatica congenita 		C 0.700 CausalMutation CLINVAR De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224 2012