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: 10682
Gene Symbol: EBP
EBP
0.100 Biomarker phenotype HPO
Entrez Id: 8925
Gene Symbol: HERC1
HERC1
0.100 Biomarker phenotype HPO
Entrez Id: 2138
Gene Symbol: EYA1
EYA1
0.100 Biomarker phenotype HPO
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
0.100 Biomarker phenotype HPO
Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
0.100 Biomarker phenotype HPO