Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
0.100 CausalMutation phenotype CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689 2016
Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 25839
Gene Symbol: COG4
COG4
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 5189
Gene Symbol: PEX1
PEX1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 1583
Gene Symbol: CYP11A1
CYP11A1
0.100 Biomarker phenotype HPO
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2200
Gene Symbol: FBN1
FBN1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100 CausalMutation phenotype CLINVAR