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: 2475
Gene Symbol: MTOR
MTOR
0.100 Biomarker phenotype HPO
Entrez Id: 8635
Gene Symbol: RNASET2
RNASET2
0.100 Biomarker phenotype HPO
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
0.100 Biomarker phenotype HPO
Entrez Id: 7249
Gene Symbol: TSC2
TSC2
0.100 Biomarker phenotype HPO
Entrez Id: 10479
Gene Symbol: SLC9A6
SLC9A6
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5428
Gene Symbol: POLG
POLG
0.100 Biomarker phenotype HPO
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
0.100 Biomarker phenotype HPO
Entrez Id: 11277
Gene Symbol: TREX1
TREX1
0.100 Biomarker phenotype HPO
Entrez Id: 7248
Gene Symbol: TSC1
TSC1
0.100 Biomarker phenotype HPO
Entrez Id: 91574
Gene Symbol: C12orf65
C12orf65
0.100 Biomarker phenotype HPO
Entrez Id: 291
Gene Symbol: SLC25A4
SLC25A4
0.100 Biomarker phenotype HPO
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
0.100 Biomarker phenotype HPO
Entrez Id: 11232
Gene Symbol: POLG2
POLG2
0.100 Biomarker phenotype HPO