Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Basal cell nevus syndrome: clinical and molecular review and case report. 26356331

2016
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Gorlin-Goltz Syndrome: Case report and literature review. 26604511

2015
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Multiple spinal osteochondromata and osteosarcoma in a patient with Gorlin's syndrome. 24529220

2014
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. 15545745

2005
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. 11941477

2002
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. 9096761

1997
Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation 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
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 CausalMutation CLINVAR Mutations in the human homologue of the Drosophila patched gene in Caucasian and African-American nevoid basal cell carcinoma syndrome patients. 8840969

1996