Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1
0.010 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