PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: Multiple self-healing squamous epithelioma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0546476
Disease: Multiple self-healing squamous epithelioma
Multiple self-healing squamous epithelioma 		0.010 GeneticVariation disease BEFREE The Patched (PTCH) gene, which is mutated in naevoid basal cell carcinoma syndrome (NBCCS or Gorlin syndrome) lies in this interval and all MSSE families have been shown to share a common haplotype at three novel intragenic PTCH polymorphisms. 9439661 1997