MYT1L, myelin transcription factor 1 like, 23040

N. diseases: 46; N. variants: 18
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225296
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 		0.610 GeneticVariation disease BEFREE Here, we report the first Saudi female patient with mild to moderate ID, early onset of obesity and speech delay associated with a de novo pathogenic SNV in the MYT1L gene (c. 1585G>A [Gly529Arg]), which causes an amino acid change from Gly to Arg at position 529 that leads to mental retardation, autosomal dominant 39. 30796847 2019
CUI: C4225296
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 		0.610 Biomarker disease GENOMICS_ENGLAND Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder. 26240977 2015
CUI: C4225296
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 		0.610 Biomarker disease GENOMICS_ENGLAND MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions. 21990140 2011
CUI: C4225296
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 		0.610 CausalMutation disease CLINVAR
CUI: C4225296
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 		0.610 Biomarker disease CTD_human
CUI: C4225296
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39
MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 		0.610 GeneticVariation disease CLINVAR