Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 9091
Gene Symbol: PIGQ
PIGQ 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2706
Gene Symbol: GJB2
GJB2 		0.100 CausalMutation phenotype CLINVAR
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: 5894
Gene Symbol: RAF1
RAF1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 196528
Gene Symbol: ARID2
ARID2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 11253
Gene Symbol: MAN1B1
MAN1B1 		0.100 GeneticVariation phenotype CLINVAR
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: 2261
Gene Symbol: FGFR3
FGFR3 		0.100 CausalMutation phenotype CLINVAR
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: 118429
Gene Symbol: ANTXR2
ANTXR2 		0.100 CausalMutation phenotype CLINVAR
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: 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: 253738
Gene Symbol: EBF3
EBF3 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5189
Gene Symbol: PEX1
PEX1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 25836
Gene Symbol: NIPBL
NIPBL 		0.100 CausalMutation phenotype CLINVAR
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: 2697
Gene Symbol: GJA1
GJA1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23126
Gene Symbol: POGZ
POGZ 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6664
Gene Symbol: SOX11
SOX11 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 CausalMutation phenotype CLINVAR