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: 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: 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 GermlineCausalMutation disease ORPHANET Pierpont syndrome: a collaborative study. 21834056 2011