Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.110 CausalMutation disease CLINVAR Basal cell nevus syndrome: clinical and molecular review and case report. 26356331 2016
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.110 CausalMutation disease CLINVAR Gorlin-Goltz Syndrome: Case report and literature review. 26604511 2015
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.110 CausalMutation disease CLINVAR Multiple spinal osteochondromata and osteosarcoma in a patient with Gorlin's syndrome. 24529220 2014
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.110 CausalMutation disease CLINVAR Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. 25403219 2014
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.110 CausalMutation disease CLINVAR PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review. 24204797 2013
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.110 GeneticVariation disease BEFREE Familial 9q22.3 microduplication spanning PTCH1 causes short stature syndrome with mild intellectual disability and dysmorphic features. 21567912 2011
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.110 CausalMutation disease CLINVAR PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. 17001668 2006
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.110 CausalMutation disease CLINVAR Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. 15545745 2005
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.110 CausalMutation disease CLINVAR Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature. 12879481 2003
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.110 CausalMutation disease CLINVAR Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. 11941477 2002
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.110 CausalMutation disease CLINVAR The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma. 9231911 1997
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.110 CausalMutation disease CLINVAR Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. 9096761 1997
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.110 CausalMutation disease CLINVAR Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident. 8981943 1997
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
0.110 CausalMutation disease CLINVAR Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. 8840969 1996