Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8621
Gene Symbol: CDK13
CDK13 		0.100 GeneticVariation phenotype CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008 2017
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: 2475
Gene Symbol: MTOR
MTOR 		0.100 CausalMutation phenotype CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Entrez Id: 4286
Gene Symbol: MITF
MITF 		0.100 CausalMutation phenotype CLINVAR Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations. 26650189 2016
Entrez Id: 51053
Gene Symbol: GMNN
GMNN 		0.100 CausalMutation phenotype CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980 2015
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: 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: 4286
Gene Symbol: MITF
MITF 		0.100 CausalMutation phenotype CLINVAR A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma. 22012259 2011
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: 6329
Gene Symbol: SCN4A
SCN4A 		0.100 CausalMutation phenotype CLINVAR New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis. 15596759 2004
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