Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6884
Gene Symbol: TAF13
TAF13
CUI: C3711387
Disease: Autosomal Recessive Primary Microcephaly
Autosomal Recessive Primary Microcephaly 		0.300 GermlineCausalMutation ORPHANET Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly. 28257693

2017