Gene: TBL1XR1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		0.750 GeneticVariation disease BEFREE TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation. 30365874 2018
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		0.750 Biomarker disease GENOMICS_ENGLAND TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation. 30365874 2018
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		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
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		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
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		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
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		0.750 GermlineCausalMutation disease ORPHANET This study identifies a specific TBL1XR1 mutation as the cause of Pierpont syndrome. 26769062 2016
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		0.750 GeneticVariation disease UNIPROT This study identifies a specific TBL1XR1 mutation as the cause of Pierpont syndrome. 26769062 2016
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		0.750 GeneticVariation disease BEFREE This study identifies a specific TBL1XR1 mutation as the cause of Pierpont syndrome. 26769062 2016
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		0.750 Biomarker disease GENOMICS_ENGLAND Choroid plexus papilloma and Pierpont syndrome. 23176139 2013
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		0.750 GermlineCausalMutation disease ORPHANET Pierpont syndrome: a collaborative study. 21834056 2011
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		0.750 Biomarker disease GENOMICS_ENGLAND Plantar lipomatosis, unusual facial phenotype and developmental delay: a new MCA/MR syndrome. 9450851 1998
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		0.750 Biomarker disease CTD_human
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		0.750 GeneticVariation disease CLINVAR
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		0.750 CausalMutation disease CLINVAR