PTCH2, patched 2, 8643

N. diseases: 114; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.010 GeneticVariation disease BEFREE We speculate that PTCH2 modulates tumorigenesis linked to the PTCH1 mutation and is likely associated with the congenital onset of the RMS observed in our patient. 29230040 2018