MYT1L, myelin transcription factor 1 like, 23040

N. diseases: 46; N. variants: 18
Disease: Obesity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028754
Disease: Obesity
Obesity 		0.440 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: C0028754
Disease: Obesity
Obesity 		0.440 GeneticVariation disease BEFREE Our finding supports the association of MYT1L mutations with early-onset syndromic obesity. 30055078 2018
CUI: C0028754
Disease: Obesity
Obesity 		0.440 GeneticVariation disease BEFREE This study demonstrates that MYT1L variants are associated with syndromic obesity in humans. 28859103 2017
CUI: C0028754
Disease: Obesity
Obesity 		0.440 Biomarker disease GENOMICS_ENGLAND Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder. 26240977 2015
CUI: C0028754
Disease: Obesity
Obesity 		0.440 Biomarker disease BEFREE In this study we evaluated a cohort of 22 patients (15 sporadic patients and two families) with a 2p25.3 aberration to further refine the clinical phenotype and to delineate the role of MYT1L in intellectual disability and obesity. 25232846 2015
CUI: C0028754
Disease: Obesity
Obesity 		0.440 Biomarker disease GENOMICS_ENGLAND MYT1L is a candidate gene for intellectual disability in patients with 2p25.3 (2pter) deletions. 21990140 2011
CUI: C0028754
Disease: Obesity
Obesity 		0.440 Biomarker disease HPO