rs1554708787
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Basal cell nevus syndrome: clinical and molecular review and case report.
|
26356331 |
2016 |
rs1554708787
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Gorlin-Goltz Syndrome: Case report and literature review.
|
26604511 |
2015 |
rs1554708787
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Multiple spinal osteochondromata and osteosarcoma in a patient with Gorlin's syndrome.
|
24529220 |
2014 |
rs1554708787
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.
|
25403219 |
2014 |
rs1554708787
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.
|
24204797 |
2013 |
rs1554708787
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.
|
17001668 |
2006 |
rs1554708787
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.
|
15545745 |
2005 |
rs1554708787
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature.
|
12879481 |
2003 |
rs1554708787
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
|
11941477 |
2002 |
rs1554708787
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma.
|
9231911 |
1997 |
rs1554708787
|
|
Dysmorphic features
|
T |
0.700 |
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 |
rs1554708787
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.
|
9096761 |
1997 |
rs1554708787
|
|
Dysmorphic features
|
T |
0.700 |
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 |
rs781768965
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Basal cell nevus syndrome: clinical and molecular review and case report.
|
26356331 |
2016 |
rs781768965
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Gorlin-Goltz Syndrome: Case report and literature review.
|
26604511 |
2015 |
rs781768965
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.
|
25403219 |
2014 |
rs781768965
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Multiple spinal osteochondromata and osteosarcoma in a patient with Gorlin's syndrome.
|
24529220 |
2014 |
rs781768965
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
PTCH1 gene mutations in Keratocystic odontogenic tumors: a study of 43 Chinese patients and a systematic review.
|
24204797 |
2013 |
rs781768965
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.
|
17001668 |
2006 |
rs781768965
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome.
|
15545745 |
2005 |
rs781768965
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature.
|
12879481 |
2003 |
rs781768965
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly.
|
11941477 |
2002 |
rs781768965
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma.
|
9231911 |
1997 |
rs781768965
|
|
Dysmorphic features
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.
|
9096761 |
1997 |
rs781768965
|
|
Dysmorphic features
|
A |
0.700 |
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 |