Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
1.000 Biomarker CTD_human The Hh signaling pathway is involved in the pathogenesis of several tumors, including nevoid basal cell carcinoma syndrome that is associated with an alteration of the patched-1 (PTCH1) gene. 25876211

2015

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
1.000 Biomarker CTD_human The first link of Hh signaling to cancer was established through discovery of genetic mutations of Hh receptor gene PTCH1 being responsible for Gorlin syndrome in 1996. 25559776

2015

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
1.000 Biomarker CTD_human These data indicate that the PTCH1(+/-) genotype of healthy NBCCS fibroblasts results in phenotypic traits highly reminiscent of those of BCC associated fibroblasts, a clue to the yet mysterious proneness to non photo-exposed BCCs in NBCCS patients. 19287498

2009

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
1.000 Biomarker CTD_human This variant was absent in the NBCCS patient that did not develop basal cell carcinomas, suggesting that this variant could have favored the development of skin cancers, in patients carrying the PTCH1 mutation. 18539553

2008

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
1.000 Biomarker CTD_human Contributions of PTCH gene variants to isolated cleft lip and palate. 16405370

2006

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome
1.000 Biomarker CTD_human Odontogenic keratocysts arise from quiescent epithelial rests and are associated with deregulated hedgehog signaling in mice and humans. 16936257

2006