Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
Entrez Id: 113246
Gene Symbol: C12orf57
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
Entrez Id: 134728
Gene Symbol: IRAK1BP1
IRAK1BP1 		0.100 CausalMutation disease CLINVAR