Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 112476
Gene Symbol: PRRT2
PRRT2
0.180 Biomarker disease HPO
Entrez Id: 7080
Gene Symbol: NKX2-1
NKX2-1
0.120 Biomarker disease HPO
Entrez Id: 23732
Gene Symbol: FRRS1L
FRRS1L
0.120 Biomarker disease HPO
Entrez Id: 3251
Gene Symbol: HPRT1
HPRT1
0.120 Biomarker disease HPO
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
0.110 Biomarker disease HPO
Entrez Id: 3736
Gene Symbol: KCNA1
KCNA1
0.110 Biomarker disease HPO
Entrez Id: 54840
Gene Symbol: APTX
APTX
0.110 Biomarker disease HPO
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.110 Biomarker disease HPO
Entrez Id: 8869
Gene Symbol: ST3GAL5
ST3GAL5
0.110 Biomarker disease HPO
Entrez Id: 80025
Gene Symbol: PANK2
PANK2
0.100 Biomarker disease HPO
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.100 GeneticVariation disease CLINVAR
Entrez Id: 11284
Gene Symbol: PNKP
PNKP
0.100 Biomarker disease HPO
Entrez Id: 1644
Gene Symbol: DDC
DDC
0.100 Biomarker disease HPO
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
0.100 Biomarker disease HPO
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
0.100 Biomarker disease HPO
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
0.100 Biomarker disease HPO
Entrez Id: 5860
Gene Symbol: QDPR
QDPR
0.100 Biomarker disease HPO
Entrez Id: 65993
Gene Symbol: MRPS34
MRPS34
0.100 Biomarker disease HPO
Entrez Id: 4694
Gene Symbol: NDUFA1
NDUFA1
0.100 Biomarker disease HPO
Entrez Id: 80067
Gene Symbol: DCAF17
DCAF17
0.100 Biomarker disease HPO
Entrez Id: 3028
Gene Symbol: HSD17B10
HSD17B10
0.100 Biomarker disease HPO
Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
0.100 GeneticVariation disease CLINVAR
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
0.100 Biomarker disease HPO
Entrez Id: 23533
Gene Symbol: PIK3R5
PIK3R5
0.100 Biomarker disease HPO
Entrez Id: 8905
Gene Symbol: AP1S2
AP1S2
0.100 Biomarker disease HPO