×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Overgrowth
0.100
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
Overgrowth
0.100
CausalMutation
CLINVAR
Multiple spinal osteochondromata and osteosarcoma in a patient with Gorlin's syndrome.
24529220
2014
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Overgrowth
0.100
CausalMutation
CLINVAR
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.
9096761
1997
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Overgrowth
0.100
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
Overgrowth
0.100
CausalMutation
CLINVAR
Gorlin-Goltz Syndrome: Case report and literature review.
26604511
2015
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Overgrowth
0.100
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
Overgrowth
0.100
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
Overgrowth
0.100
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
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Overgrowth
0.100
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
Overgrowth
0.100
CausalMutation
CLINVAR
Basal cell nevus syndrome: clinical and molecular review and case report.
26356331
2016
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Overgrowth
0.100
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
Overgrowth
0.100
CausalMutation
CLINVAR
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
11941477
2002
×
Entrez Id:
5727
Gene Symbol:
PTCH1
PTCH1
Overgrowth
0.100
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