TBL1XR1, TBL1X receptor 1, 79718

N. diseases: 195; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878854402
rs878854402
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C1865644
Disease:
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		0.820 GeneticVariation BEFREE TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation. 30365874 2018
dbSNP: rs878854402
rs878854402
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C1865644
Disease:
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		0.820 GeneticVariation BEFREE Exome sequencing revealed a de novo heterozygous sequence variant, p.Tyr446Cys, in TBL1XR1 that has previously been reported in six patients with Pierpont syndrome. 28687524 2017
dbSNP: rs878854402
rs878854402
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C1865644
Disease:
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		0.820 GeneticVariation UNIPROT A specific mutation in TBL1XR1 causes Pierpont syndrome. 26769062 2016
dbSNP: rs878854402
rs878854402
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C1865644
Disease:
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		C 0.820 CausalMutation CLINVAR
dbSNP: rs878854401
rs878854401
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C4310784
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.800 GeneticVariation UNIPROT Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events. 27133561 2016
dbSNP: rs878854401
rs878854401
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C4310784
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.800 GeneticVariation UNIPROT A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation. 25102098 2014
dbSNP: rs878854401
rs878854401
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C4310784
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.800 GeneticVariation UNIPROT Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
dbSNP: rs878854401
rs878854401
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C4310784
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.800 GeneticVariation UNIPROT Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
dbSNP: rs786205859
rs786205859
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C4310784
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		0.800 GeneticVariation UNIPROT
dbSNP: rs786205859
rs786205859
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C4310784
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		T 0.800 CausalMutation CLINVAR
dbSNP: rs878854401
rs878854401
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C4310784
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 41 		C 0.800 CausalMutation CLINVAR
dbSNP: rs62296577
rs62296577
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0004096
Disease:
Asthma 		C 0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs6804442
rs6804442
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7617950
rs7617950
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7617950
rs7617950
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7626218
rs7626218
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0035242
Disease:
Respiratory Tract Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7626218
rs7626218
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0004096
Disease:
Asthma 		A 0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs7626218
rs7626218
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0004096
Disease:
Asthma 		A 0.700 GeneticVariation GWASCAT Shared genetics of asthma and mental health disorders: a large-scale genome-wide cross-trait analysis. 31619474 2019
dbSNP: rs7626218
rs7626218
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0264408
Disease:
Childhood asthma 		0.700 GeneticVariation GWASCAT Genetic Architectures of Childhood- and Adult-Onset Asthma Are Partly Distinct. 30929738 2019
dbSNP: rs58823914
rs58823914
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0596887
Disease:
mathematical ability 		A 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs58823914
rs58823914
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0596887
Disease:
mathematical ability 		C 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs1553810244
rs1553810244
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. 28687524 2017
dbSNP: rs1553810244
rs1553810244
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1. 28687524 2017
dbSNP: rs1553810244
rs1553810244
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity. 28588275 2017
dbSNP: rs1553810244
rs1553810244
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity. 28588275 2017