KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
Disease: Hypertrichosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.120 GeneticVariation disease BEFREE Among them, heterozygous de novo variants in KMT2A, a gene coding for histone methyltransferase, have been associated with Wiedemann-Steiner syndrome (WSS), a rare developmental disorder mainly characterized by intellectual disability (ID) and hypertrichosis. 30014449 2018
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.120 GeneticVariation disease BEFREE This patient expands the clinical phenotype associated with mutations in KMT2A to include variable patterns of hypertrichosis and a significantly advanced bone age with premature eruption of the secondary dentition despite her growth retardation. 24818805 2014
CUI: C0020555
Disease: Hypertrichosis
Hypertrichosis 		0.120 CausalMutation disease CLINVAR