Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 CausalMutation phenotype CLINVAR
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: 1717
Gene Symbol: DHCR7
DHCR7 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 120
Gene Symbol: ADD3
ADD3 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 55636
Gene Symbol: CHD7
CHD7 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1024
Gene Symbol: CDK8
CDK8 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 24137
Gene Symbol: KIF4A
KIF4A 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1583
Gene Symbol: CYP11A1
CYP11A1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 253738
Gene Symbol: EBF3
EBF3 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2475
Gene Symbol: MTOR
MTOR 		0.100 CausalMutation phenotype CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Entrez Id: 29072
Gene Symbol: SETD2
SETD2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 93627
Gene Symbol: TBCK
TBCK 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23299
Gene Symbol: BICD2
BICD2 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 284217
Gene Symbol: LAMA1
LAMA1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 23332
Gene Symbol: CLASP1
CLASP1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.100 CausalMutation phenotype CLINVAR