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: 9968
Gene Symbol: MED12
MED12 		0.100 Biomarker phenotype HPO
Entrez Id: 284058
Gene Symbol: KANSL1
KANSL1 		0.100 Biomarker phenotype HPO
Entrez Id: 79813
Gene Symbol: EHMT1
EHMT1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 7403
Gene Symbol: KDM6A
KDM6A 		0.100 Biomarker phenotype HPO
Entrez Id: 79718
Gene Symbol: TBL1XR1
TBL1XR1 		0.100 Biomarker phenotype HPO
Entrez Id: 3190
Gene Symbol: HNRNPK
HNRNPK 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B 		0.100 Biomarker phenotype HPO
Entrez Id: 2033
Gene Symbol: EP300
EP300 		0.100 Biomarker phenotype HPO
Entrez Id: 10847
Gene Symbol: SRCAP
SRCAP 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2146
Gene Symbol: EZH2
EZH2 		0.100 Biomarker phenotype HPO
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D 		0.100 Biomarker phenotype HPO
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		0.100 Biomarker phenotype HPO