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: 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: 6687
Gene Symbol: SPG7
SPG7 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 8726
Gene Symbol: EED
EED 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 81603
Gene Symbol: TRIM8
TRIM8 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1 		0.100 CausalMutation phenotype CLINVAR