MID2, midline 2, 11043

N. diseases: 48; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777605
rs587777605
Entrez Id: 11043;101928335
Gene Symbol: MID2;LOC101928335
MID2;LOC101928335
CUI: C3890168
Disease:
MENTAL RETARDATION, X-LINKED 101 		0.800 GeneticVariation UNIPROT Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India. 24115387 2014
dbSNP: rs587777605
rs587777605
Entrez Id: 11043;101928335
Gene Symbol: MID2;LOC101928335
MID2;LOC101928335
CUI: C3890168
Disease:
MENTAL RETARDATION, X-LINKED 101 		A 0.800 CausalMutation CLINVAR
dbSNP: rs551253128
rs551253128
Entrez Id: 11043;101928335
Gene Symbol: MID2;LOC101928335
MID2;LOC101928335
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Screening of coding exons of this gene in additional 480 unrelated individuals with idiopathic intellectual disability identified another novel variation p.Asn343Ser. 24115387 2014
dbSNP: rs587777605
rs587777605
Entrez Id: 11043;101928335
Gene Symbol: MID2;LOC101928335
MID2;LOC101928335
CUI: C1136249
Disease:
Mental Retardation, X-Linked 		0.010 GeneticVariation BEFREE We report a novel missense mutation (c.1040G>A, p.Arg347Gln) in MID2, which encodes ubiquitin ligase E3, as the likely cause of X-linked mental retardation in a large kindred. 24115387 2014