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: 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: 25942
Gene Symbol: SIN3A
SIN3A 		0.100 Biomarker phenotype HPO
Entrez Id: 9758
Gene Symbol: FRMPD4
FRMPD4 		0.100 Biomarker phenotype HPO
Entrez Id: 5286
Gene Symbol: PIK3C2A
PIK3C2A 		0.100 Biomarker phenotype HPO
Entrez Id: 6729
Gene Symbol: SRP54
SRP54 		0.100 Biomarker phenotype HPO
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1 		0.100 Biomarker phenotype HPO
Entrez Id: 7552
Gene Symbol: ZNF711
ZNF711 		0.100 Biomarker phenotype HPO
Entrez Id: 1717
Gene Symbol: DHCR7
DHCR7 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 3054
Gene Symbol: HCFC1
HCFC1 		0.100 Biomarker phenotype HPO
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.100 Biomarker phenotype HPO
Entrez Id: 9968
Gene Symbol: MED12
MED12 		0.100 Biomarker phenotype HPO
Entrez Id: 10436
Gene Symbol: EMG1
EMG1 		0.100 Biomarker phenotype HPO
Entrez Id: 3030
Gene Symbol: HADHA
HADHA 		0.100 Biomarker phenotype HPO
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 256297
Gene Symbol: PTF1A
PTF1A 		0.100 Biomarker phenotype HPO
Entrez Id: 26235
Gene Symbol: FBXL4
FBXL4 		0.100 Biomarker phenotype HPO
Entrez Id: 8322
Gene Symbol: FZD4
FZD4 		0.100 Biomarker phenotype HPO
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 170302
Gene Symbol: ARX
ARX 		0.100 Biomarker phenotype HPO
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1 		0.100 Biomarker phenotype HPO