Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 127833
Gene Symbol: SYT2
SYT2
0.100 Biomarker phenotype HPO
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 2705
Gene Symbol: GJB1
GJB1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 122622
Gene Symbol: ADSS1
ADSS1
0.100 Biomarker phenotype HPO
Entrez Id: 2318
Gene Symbol: FLNC
FLNC
0.100 Biomarker phenotype HPO
Entrez Id: 9499
Gene Symbol: MYOT
MYOT
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 6572
Gene Symbol: SLC18A3
SLC18A3
0.100 Biomarker phenotype HPO
Entrez Id: 65055
Gene Symbol: REEP1
REEP1
0.100 Biomarker phenotype HPO
Entrez Id: 1778
Gene Symbol: DYNC1H1
DYNC1H1
0.100 GeneticVariation phenotype CLINVAR
Entrez Id: 3315
Gene Symbol: HSPB1
HSPB1
0.100 Biomarker phenotype HPO
Entrez Id: 8557
Gene Symbol: TCAP
TCAP
0.100 Biomarker phenotype HPO
Entrez Id: 10020
Gene Symbol: GNE
GNE
0.100 Biomarker phenotype HPO
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
0.100 Biomarker phenotype HPO
Entrez Id: 1674
Gene Symbol: DES
DES
0.100 Biomarker phenotype HPO
Entrez Id: 400916
Gene Symbol: CHCHD10
CHCHD10
0.100 Biomarker phenotype HPO
Entrez Id: 3508
Gene Symbol: IGHMBP2
IGHMBP2
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 26353
Gene Symbol: HSPB8
HSPB8
0.100 Biomarker phenotype HPO
Entrez Id: 55775
Gene Symbol: TDP1
TDP1
0.100 Biomarker phenotype HPO
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1
0.100 Biomarker phenotype HPO
Entrez Id: 5376
Gene Symbol: PMP22
PMP22
0.100 Biomarker phenotype HPO
Entrez Id: 1305
Gene Symbol: COL13A1
COL13A1
0.100 Biomarker phenotype HPO
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
0.100 Biomarker phenotype HPO
Entrez Id: 60482
Gene Symbol: SLC5A7
SLC5A7
0.100 Biomarker phenotype HPO