Source: CLINVAR ×
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: 7287
Gene Symbol: TULP1
TULP1 		0.100 CausalMutation phenotype CLINVAR Antioxidant effect of aqueous extract of four plants with therapeutic potential on gynecological diseases; Semen persicae, Leonurus cardiaca, Hedyotis diffusa, and Curcuma zedoaria. 29178942 2017
Entrez Id: 84617
Gene Symbol: TUBB6
TUBB6 		0.100 CausalMutation phenotype CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		0.100 CausalMutation phenotype CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010
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: 1717
Gene Symbol: DHCR7
DHCR7 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 25839
Gene Symbol: COG4
COG4 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1654
Gene Symbol: DDX3X
DDX3X 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 79631
Gene Symbol: EFL1
EFL1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10585
Gene Symbol: POMT1
POMT1 		0.100 GeneticVariation phenotype CLINVAR