PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Disease: Epithelial cyst ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014511
Disease: Epithelial cyst
Epithelial cyst 		0.010 GeneticVariation phenotype BEFREE We employed polymerase chain reaction and DNA sequencing analysis to characterize the PTCH gene in a Japanese nevoid basal cell carcinoma syndrome (NBCCS) patient suffering from meningioma, multiple basal cell carcinoma and epidermal cysts. 12604725 2003