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: 253738
Gene Symbol: EBF3
EBF3 		0.100 CausalMutation phenotype CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372 2017
Entrez Id: 2259
Gene Symbol: FGF14
FGF14 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2773
Gene Symbol: GNAI3
GNAI3 		0.100 Biomarker phenotype HPO
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL 		0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6299
Gene Symbol: SALL1
SALL1 		0.100 Biomarker phenotype HPO
Entrez Id: 64324
Gene Symbol: NSD1
NSD1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.100 Biomarker phenotype HPO
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1 		0.100 CausalMutation phenotype CLINVAR
Entrez Id: 5332
Gene Symbol: PLCB4
PLCB4 		0.100 Biomarker phenotype HPO