KAT8, lysine acetyltransferase 8, 84148

N. diseases: 80; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.300 Biomarker disease GENOMICS_ENGLAND Moreover, we describe KAT8 variants in 9 patients with intellectual disability, seizures, autism, dysmorphisms, and other anomalies. 31794431 2020