TBL1XR1, TBL1X receptor 1, 79718

N. diseases: 195; N. variants: 16
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310784
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.700 GeneticVariation disease UNIPROT Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. 27133561 2016
CUI: C4310784
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.700 GeneticVariation disease UNIPROT A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. 25102098 2014
CUI: C4310784
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.700 GeneticVariation disease UNIPROT Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
CUI: C4310784
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.700 GeneticVariation disease UNIPROT Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
CUI: C4310784
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.700 Biomarker disease GENOMICS_ENGLAND Plantar lipomatosis, unusual facial phenotype and developmental delay: a new MCA/MR syndrome. 9450851 1998
CUI: C4310784
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.700 GeneticVariation disease CLINVAR
CUI: C4310784
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.700 Biomarker disease CTD_human
CUI: C4310784
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.700 CausalMutation disease CLINVAR