Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.770 Biomarker CLINGEN The absence of typical phenotypes in this case such as palmar/plantar pits, macrocephaly, falx calcification, hypertelorism and coarse face, together with previously reported cases, suggested that individuals with NBCCS carrying a PTCH2 mutation may have a milder phenotype than those with a PTCH1 mutation. 23479190

2013
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.770 Biomarker CLINGEN Identification of a SUFU germline mutation in a family with Gorlin syndrome. 19533801

2009
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.770 Biomarker CLINGEN One novel mutation, a G-->A transition (2157G-->A) in exon 15 of the PTCH2 gene, was identified in this family with NBCCS by direct sequencing and digestion with the AvaI restriction enzyme. 18285427

2008
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.770 Biomarker CLINGEN Mice with a targeted mutation of patched2 are viable but develop alopecia and epidermal hyperplasia. 16914743

2006
Entrez Id: 8643
Gene Symbol: PTCH2
PTCH2
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.770 Biomarker CLINGEN Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. 8681379

1996