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 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