Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1615
Gene Symbol: DARS1
DARS1
0.300 Biomarker phenotype GENOMICS_ENGLAND DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder. 25527264 2015
Entrez Id: 80208
Gene Symbol: SPG11
SPG11
0.100 CausalMutation phenotype CLINVAR SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration. 19194956 2009
Entrez Id: 57531
Gene Symbol: HACE1
HACE1
0.100 Biomarker phenotype HPO
Entrez Id: 2583
Gene Symbol: B4GALNT1
B4GALNT1
0.100 Biomarker phenotype HPO
Entrez Id: 3798
Gene Symbol: KIF5A
KIF5A
0.100 Biomarker phenotype HPO
Entrez Id: 118813
Gene Symbol: ZFYVE27
ZFYVE27
0.100 Biomarker phenotype HPO
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
0.100 Biomarker phenotype HPO
Entrez Id: 26278
Gene Symbol: SACS
SACS
0.100 Biomarker phenotype HPO
Entrez Id: 57704
Gene Symbol: GBA2
GBA2
0.100 Biomarker phenotype HPO
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
0.100 Biomarker phenotype HPO
Entrez Id: 79152
Gene Symbol: FA2H
FA2H
0.100 Biomarker phenotype HPO
Entrez Id: 23503
Gene Symbol: ZFYVE26
ZFYVE26
0.100 Biomarker phenotype HPO
Entrez Id: 5277
Gene Symbol: PIGA
PIGA
0.100 Biomarker phenotype HPO
Entrez Id: 170302
Gene Symbol: ARX
ARX
0.100 Biomarker phenotype HPO
Entrez Id: 6687
Gene Symbol: SPG7
SPG7
0.100 Biomarker phenotype HPO
Entrez Id: 200403
Gene Symbol: VWA3B
VWA3B
0.100 Biomarker phenotype HPO
Entrez Id: 5917
Gene Symbol: RARS1
RARS1
0.100 Biomarker phenotype HPO
Entrez Id: 1183
Gene Symbol: CLCN4
CLCN4
0.100 Biomarker phenotype HPO
Entrez Id: 25793
Gene Symbol: FBXO7
FBXO7
0.100 Biomarker phenotype HPO
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
0.100 Biomarker phenotype HPO
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
0.100 Biomarker phenotype HPO
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
0.100 CausalMutation phenotype CLINVAR
Entrez Id: 123606
Gene Symbol: NIPA1
NIPA1
0.100 Biomarker phenotype HPO
Entrez Id: 5354
Gene Symbol: PLP1
PLP1
0.100 Biomarker phenotype HPO
Entrez Id: 6683
Gene Symbol: SPAST
SPAST
0.100 GeneticVariation phenotype CLINVAR