PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: Rhabdomyoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035411
Disease: Rhabdomyoma
Rhabdomyoma 		0.010 GeneticVariation disease BEFREE Four of nine informative fetal rhabdomyomas and embryonal rhabdomyosarcomas showed loss of heterozygosity (LOH) in the PTCH region with two of these (one fetal rhabdomyoma and one embryonal rhabdomyosarcoma) also showing LOH in the SUFU region. 16294371 2006