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: 4882
Gene Symbol: NPR2
NPR2
0.100 Biomarker phenotype HPO
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
0.100 Biomarker phenotype HPO
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
0.100 Biomarker phenotype HPO
Entrez Id: 23545
Gene Symbol: ATP6V0A2
ATP6V0A2
0.100 Biomarker phenotype HPO
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
0.100 Biomarker phenotype HPO
Entrez Id: 7227
Gene Symbol: TRPS1
TRPS1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 10269
Gene Symbol: ZMPSTE24
ZMPSTE24
0.100 Biomarker phenotype HPO
Entrez Id: 4000
Gene Symbol: LMNA
LMNA
0.100 Biomarker phenotype HPO
Entrez Id: 112752
Gene Symbol: IFT43
IFT43
0.100 Biomarker phenotype HPO
Entrez Id: 126792
Gene Symbol: B3GALT6
B3GALT6
0.100 Biomarker phenotype HPO