Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10013
Gene Symbol: HDAC6
HDAC6
0.100 Biomarker disease HPO
Entrez Id: 6888
Gene Symbol: TALDO1
TALDO1
0.100 Biomarker disease HPO
Entrez Id: 9853
Gene Symbol: RUSC2
RUSC2
0.100 Biomarker disease HPO
Entrez Id: 4763
Gene Symbol: NF1
NF1
0.100 Biomarker disease HPO
Entrez Id: 103
Gene Symbol: ADAR
ADAR
0.100 Biomarker disease HPO
Entrez Id: 22858
Gene Symbol: CILK1
CILK1
0.100 Biomarker disease HPO
Entrez Id: 3339
Gene Symbol: HSPG2
HSPG2
0.100 GeneticVariation disease CLINVAR
Entrez Id: 9731
Gene Symbol: CEP104
CEP104
0.100 Biomarker disease HPO
Entrez Id: 57724
Gene Symbol: EPG5
EPG5
0.100 Biomarker disease HPO
Entrez Id: 650
Gene Symbol: BMP2
BMP2
0.100 Biomarker disease HPO
Entrez Id: 29957
Gene Symbol: SLC25A24
SLC25A24
0.100 Biomarker disease HPO
Entrez Id: 64220
Gene Symbol: STRA6
STRA6
0.100 Biomarker disease HPO
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
0.100 CausalMutation disease CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400 2016
Entrez Id: 65062
Gene Symbol: TMEM237
TMEM237
0.100 Biomarker disease HPO
Entrez Id: 23162
Gene Symbol: MAPK8IP3
MAPK8IP3
0.100 Biomarker disease HPO
Entrez Id: 100151683
Gene Symbol: RNU4ATAC
RNU4ATAC
0.100 GeneticVariation disease CLINVAR
Entrez Id: 55670
Gene Symbol: PEX26
PEX26
0.100 Biomarker disease HPO
Entrez Id: 6611
Gene Symbol: SMS
SMS
0.100 Biomarker disease HPO
Entrez Id: 2317
Gene Symbol: FLNB
FLNB
0.100 Biomarker disease HPO
Entrez Id: 83483
Gene Symbol: PLVAP
PLVAP
0.100 Biomarker disease HPO
Entrez Id: 57459
Gene Symbol: GATAD2B
GATAD2B
0.100 CausalMutation disease CLINVAR
Entrez Id: 8942
Gene Symbol: KYNU
KYNU
0.100 CausalMutation disease CLINVAR NAD Deficiency, Congenital Malformations, and Niacin Supplementation. 28792876 2017
Entrez Id: 55714
Gene Symbol: TENM3
TENM3
0.100 Biomarker disease HPO
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
0.100 CausalMutation disease CLINVAR
Entrez Id: 4882
Gene Symbol: NPR2
NPR2
0.100 CausalMutation disease CLINVAR