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: 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: 4998
Gene Symbol: ORC1
ORC1 		0.100 Biomarker phenotype HPO
Entrez Id: 54870
Gene Symbol: QRICH1
QRICH1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4089
Gene Symbol: SMAD4
SMAD4 		0.100 Biomarker phenotype HPO
Entrez Id: 145173
Gene Symbol: B3GLCT
B3GLCT 		0.100 Biomarker phenotype HPO
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 25839
Gene Symbol: COG4
COG4 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5295
Gene Symbol: PIK3R1
PIK3R1 		0.100 Biomarker phenotype HPO
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23594
Gene Symbol: ORC6
ORC6 		0.100 Biomarker phenotype HPO
Entrez Id: 9321
Gene Symbol: TRIP11
TRIP11 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		0.100 Biomarker phenotype HPO
Entrez Id: 990
Gene Symbol: CDC6
CDC6 		0.100 Biomarker phenotype HPO
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6905
Gene Symbol: TBCE
TBCE 		0.100 Biomarker phenotype HPO
Entrez Id: 1968
Gene Symbol: EIF2S3
EIF2S3 		0.100 Biomarker phenotype HPO
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 81620
Gene Symbol: CDT1
CDT1 		0.100 Biomarker phenotype HPO
Entrez Id: 56052
Gene Symbol: ALG1
ALG1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5000
Gene Symbol: ORC4
ORC4 		0.100 Biomarker phenotype HPO