Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4286
Gene Symbol: MITF
MITF 		0.100 CausalMutation phenotype CLINVAR Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history. 23167872 2013
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6329
Gene Symbol: SCN4A
SCN4A 		0.100 CausalMutation phenotype CLINVAR [The construction and preliminary investigation of the cell model of a novel mutation R675Q in the SCN4A gene identified in a Chinese family with normokalemic periodic paralysis]. 19065518 2008
Entrez Id: 8506
Gene Symbol: CNTNAP1
CNTNAP1 		0.100 GeneticVariation phenotype CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699 2017
Entrez Id: 6925
Gene Symbol: TCF4
TCF4 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6654
Gene Symbol: SOS1
SOS1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4286
Gene Symbol: MITF
MITF 		0.100 CausalMutation phenotype CLINVAR Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition. 25803691 2015
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 60
Gene Symbol: ACTB
ACTB 		0.100 Biomarker phenotype HPO
Entrez Id: 3425
Gene Symbol: IDUA
IDUA 		0.100 Biomarker phenotype HPO
Entrez Id: 5277
Gene Symbol: PIGA
PIGA 		0.100 Biomarker phenotype HPO
Entrez Id: 23630
Gene Symbol: KCNE5
KCNE5 		0.100 Biomarker phenotype HPO
Entrez Id: 9652
Gene Symbol: TTC37
TTC37 		0.100 Biomarker phenotype HPO
Entrez Id: 8799
Gene Symbol: PEX11B
PEX11B 		0.100 Biomarker phenotype HPO
Entrez Id: 1795
Gene Symbol: DOCK3
DOCK3 		0.100 Biomarker phenotype HPO
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.100 Biomarker phenotype HPO
Entrez Id: 1836
Gene Symbol: SLC26A2
SLC26A2 		0.100 Biomarker phenotype HPO
Entrez Id: 175
Gene Symbol: AGA
AGA 		0.100 Biomarker phenotype HPO
Entrez Id: 51124
Gene Symbol: IER3IP1
IER3IP1 		0.100 Biomarker phenotype HPO
Entrez Id: 1301
Gene Symbol: COL11A1
COL11A1 		0.100 Biomarker phenotype HPO
Entrez Id: 5194
Gene Symbol: PEX13
PEX13 		0.100 Biomarker phenotype HPO
Entrez Id: 4838
Gene Symbol: NODAL
NODAL 		0.100 Biomarker phenotype HPO
Entrez Id: 2245
Gene Symbol: FGD1
FGD1 		0.100 Biomarker phenotype HPO