TTI2, TELO2 interacting protein 2, 80185

N. diseases: 28; N. variants: 5
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122367
rs398122367
Entrez Id: 80185;84549
Gene Symbol: TTI2;MAK16
TTI2;MAK16
CUI: C3809853
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 		0.800 GeneticVariation UNIPROT Mutation in TTI2 reveals a role for triple T complex in human brain development. 23956177 2013
dbSNP: rs398122367
rs398122367
Entrez Id: 80185;84549
Gene Symbol: TTI2;MAK16
TTI2;MAK16
CUI: C3809853
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 		T 0.800 CausalMutation CLINVAR