TBL1XR1, TBL1X receptor 1, 79718

N. diseases: 17; N. variants: 15
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865644
Disease: Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		0.750 Biomarker disease GENOMICS_ENGLAND TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation. 30365874 2018
CUI: C1865644
Disease: Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		0.750 GermlineCausalMutation disease ORPHANET This study identifies a specific TBL1XR1 mutation as the cause of Pierpont syndrome. 26769062 2016
CUI: C1865644
Disease: Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		0.750 GeneticVariation disease UNIPROT This study identifies a specific TBL1XR1 mutation as the cause of Pierpont syndrome. 26769062 2016
CUI: C1865644
Disease: Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		0.750 Biomarker disease GENOMICS_ENGLAND Choroid plexus papilloma and Pierpont syndrome. 23176139 2013
CUI: C1865644
Disease: Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		0.750 GermlineCausalMutation disease ORPHANET Pierpont syndrome: a collaborative study. 21834056 2011
CUI: C1865644
Disease: Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		0.750 Biomarker disease GENOMICS_ENGLAND Plantar lipomatosis, unusual facial phenotype and developmental delay: a new MCA/MR syndrome. 9450851 1998
CUI: C1865644
Disease: Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		0.750 Biomarker disease CTD_human
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 Biomarker disease CTD_human
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		0.330 FusionGene disease ORPHANET In this study, we identified a novel RARα fusion gene, TBLR1-RARα (GenBank KF589333), in a rare case of APL with a t(3;17)(q26;q21),t(7;17)(q11.2;q21) complex chromosomal rearrangement. 24782508 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.320 Biomarker disease CTD_human Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets. 29662167 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.320 Biomarker disease GENOMICS_ENGLAND Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. 23160955 2012
CUI: C0280803
Disease: Primary central nervous system lymphoma
Primary central nervous system lymphoma 		0.310 CausalMutation disease CGI
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.300 Biomarker group CTD_human Sequencing of prostate cancers identifies new cancer genes, routes of progression and drug targets. 29662167 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.300 Biomarker group CTD_human Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889 2017
CUI: C0345967
Disease: Malignant mesothelioma
Malignant mesothelioma 		0.300 Biomarker disease CTD_human MicroRNA and mRNA features of malignant pleural mesothelioma and benign asbestos-related pleural effusion. 25756049 2015
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		0.300 CausalMutation disease CGI
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		0.300 CausalMutation disease CGI
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		0.300 CausalMutation disease CGI
CUI: C0154017
Disease: Benign neoplasm of bladder
Benign neoplasm of bladder 		0.300 CausalMutation disease CGI
CUI: C0154091
Disease: Carcinoma in situ of bladder
Carcinoma in situ of bladder 		0.300 CausalMutation disease CGI