TBL1XR1, TBL1X receptor 1, 79718

N. diseases: 195; N. variants: 16
Source: ALL
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 GeneticVariation disease BEFREE 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 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 GeneticVariation disease BEFREE Our comprehensive search for candidate genes located in the critical region of the duplication 3q syndrome, 3q26.3-q27, revealed a so far neglected phenotypic overlap of dup(3q) and the Pierpont syndrome, associated with a mutation of the TBL1XR1 gene on 3q26.32. 27549440 2017
CUI: C1865644
Disease: Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		0.750 GeneticVariation disease BEFREE One recurrent point mutation in the TBL1XR1 gene has been identified as the cause of Pierpont syndrome (OMIM 602342), a distinct intellectual disability syndrome with plantar lipomatosis. 28574232 2017
CUI: C1865644
Disease: Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		0.750 GeneticVariation disease 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
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 GeneticVariation disease BEFREE 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: C1865644
Disease: Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		0.750 GeneticVariation disease CLINVAR
CUI: C1865644
Disease: Plantar Lipomatosis, Unusual Facies, and Developmental Delay
Plantar Lipomatosis, Unusual Facies, and Developmental Delay 		0.750 CausalMutation disease CLINVAR
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
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		0.330 GeneticVariation disease BEFREE In conclusion, we found using next-generation sequencing (NGS) a TBL1XR1-RARA fusion in a child with variant APL without the classic karyotype. 31350930 2019
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		0.330 GeneticVariation disease BEFREE <i>TBL1XR1-RARB</i> as an oncogenic protein exerts effects similar to those of <i>PML-RARA</i>, underpinning the importance of retinoic acid pathway alterations in the pathogenesis of APL.<b>Significance:</b> These findings report a novel and distinct genetic subtype of acute promyelocytic leukemia (APL) by illustrating that the majority of APL without RARA translocations harbor RARB translocations.<i></i>. 29921692 2018
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		0.330 GeneticVariation disease BEFREE TBLR1 fuses to retinoid acid receptor α in a variant t(3;17)(q26;q21) translocation of acute promyelocytic leukemia. 24782508 2014