KAT6A, lysine acetyltransferase 6A, 7994

N. diseases: 129; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.130 Biomarker disease BEFREE Pathogenic variants in KAT6A have recently been identified as a cause of syndromic developmental delay. 30245513 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.130 GeneticVariation disease BEFREE A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay. 29899504 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.130 GeneticVariation disease BEFREE De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. 25728775 2015
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.130 CausalMutation disease CLINVAR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.130 Biomarker disease HPO