Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 93627
Gene Symbol: TBCK
TBCK
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 7874
Gene Symbol: USP7
USP7
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
0.100 Biomarker phenotype HPO
Entrez Id: 5813
Gene Symbol: PURA
PURA
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.100 Biomarker phenotype HPO
Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
0.100 CausalMutation phenotype CLINVAR