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 |
|
|
|
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 |
|
|
|