Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10466
Gene Symbol: COG5
COG5
0.100 Biomarker phenotype HPO
Entrez Id: 79876
Gene Symbol: UBA5
UBA5
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 171568
Gene Symbol: POLR3H
POLR3H
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3035
Gene Symbol: HARS1
HARS1
0.100 Biomarker phenotype HPO
Entrez Id: 10528
Gene Symbol: NOP56
NOP56
0.100 Biomarker phenotype HPO
Entrez Id: 50
Gene Symbol: ACO2
ACO2
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
0.100 Biomarker phenotype HPO
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
0.100 Biomarker phenotype HPO
Entrez Id: 7507
Gene Symbol: XPA
XPA
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2895
Gene Symbol: GRID2
GRID2
0.100 Biomarker phenotype HPO
Entrez Id: 200403
Gene Symbol: VWA3B
VWA3B
0.100 Biomarker phenotype HPO
Entrez Id: 9420
Gene Symbol: CYP7B1
CYP7B1
0.100 Biomarker phenotype HPO
Entrez Id: 55532
Gene Symbol: SLC30A10
SLC30A10
0.100 Biomarker phenotype HPO
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.100 Biomarker phenotype HPO
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.100 Biomarker phenotype HPO
Entrez Id: 492
Gene Symbol: ATP2B3
ATP2B3
0.100 Biomarker phenotype HPO
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 100532724
Gene Symbol: NPHP3-ACAD11
NPHP3-ACAD11
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 55154
Gene Symbol: MSTO1
MSTO1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3708
Gene Symbol: ITPR1
ITPR1
0.100 Biomarker phenotype HPO
Entrez Id: 3752
Gene Symbol: KCND3
KCND3
0.100 Biomarker phenotype HPO
Entrez Id: 54840
Gene Symbol: APTX
APTX
0.100 Biomarker phenotype HPO
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 339983
Gene Symbol: NAT8L
NAT8L
0.100 Biomarker phenotype HPO