rs1060505030, TAF13

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60
CUI: C4479476
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60
0.800 GeneticVariation UNIPROT Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly. 28257693 2017
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60
CUI: C4479476
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 60
0.800 CausalMutation CLINVAR
Congenital microcephaly
CUI: C2677180
Disease: Congenital microcephaly
0.700 CausalMutation CLINVAR
Delayed Puberty
CUI: C0034012
Disease: Delayed Puberty
0.700 CausalMutation CLINVAR
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
0.700 CausalMutation CLINVAR