Entrez Id: |
9969 |
Gene Symbol: |
MED13 |
MED13
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
4204 |
Gene Symbol: |
MECP2 |
MECP2
|
0.130 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
2706 |
Gene Symbol: |
GJB2 |
GJB2
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
22827 |
Gene Symbol: |
PUF60 |
PUF60
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
675 |
Gene Symbol: |
BRCA2 |
BRCA2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.
|
16141007 |
2005 |
Entrez Id: |
675 |
Gene Symbol: |
BRCA2 |
BRCA2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations.
|
19188187 |
2009 |
Entrez Id: |
123263 |
Gene Symbol: |
MTFMT |
MTFMT
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.
|
24461907 |
2014 |
Entrez Id: |
4286 |
Gene Symbol: |
MITF |
MITF
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.
|
26650189 |
2016 |
Entrez Id: |
675 |
Gene Symbol: |
BRCA2 |
BRCA2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Risk of breast cancer in male BRCA2 carriers.
|
20587410 |
2010 |
Entrez Id: |
23552 |
Gene Symbol: |
CDK20 |
CDK20
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
123263 |
Gene Symbol: |
MTFMT |
MTFMT
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation.
|
21907147 |
2011 |
Entrez Id: |
4286 |
Gene Symbol: |
MITF |
MITF
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
|
25803691 |
2015 |
Entrez Id: |
1106 |
Gene Symbol: |
CHD2 |
CHD2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
157680 |
Gene Symbol: |
VPS13B |
VPS13B
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6389 |
Gene Symbol: |
SDHA |
SDHA
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.
|
26269449 |
2015 |
Entrez Id: |
374654 |
Gene Symbol: |
KIF7 |
KIF7
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
675 |
Gene Symbol: |
BRCA2 |
BRCA2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and characteristics of pancreatic cancer in families with BRCA1 and BRCA2 mutations.
|
18855126 |
2009 |
Entrez Id: |
23389 |
Gene Symbol: |
MED13L |
MED13L
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6389 |
Gene Symbol: |
SDHA |
SDHA
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST.
|
23612575 |
2014 |
Entrez Id: |
4286 |
Gene Symbol: |
MITF |
MITF
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.
|
23167872 |
2013 |
C12orf57
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
675 |
Gene Symbol: |
BRCA2 |
BRCA2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Cancer risks for BRCA1 and BRCA2 mutation carriers: results from prospective analysis of EMBRACE.
|
23628597 |
2013 |
Entrez Id: |
6389 |
Gene Symbol: |
SDHA |
SDHA
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.
|
28384794 |
2017 |
IRAK1BP1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|