|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
157680 |
| Gene Symbol: |
VPS13B |
VPS13B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
ALDH18A1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4285 |
| Gene Symbol: |
MIPEP |
MIPEP
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6687 |
| Gene Symbol: |
SPG7 |
SPG7
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
10273 |
| Gene Symbol: |
STUB1 |
STUB1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6664 |
| Gene Symbol: |
SOX11 |
SOX11
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
22907 |
| Gene Symbol: |
DHX30 |
DHX30
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
339123 |
| Gene Symbol: |
JMJD8 |
JMJD8
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
823 |
| Gene Symbol: |
CAPN1 |
CAPN1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
374462 |
| Gene Symbol: |
PTPRQ |
PTPRQ
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
138050 |
| Gene Symbol: |
HGSNAT |
HGSNAT
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6326 |
| Gene Symbol: |
SCN2A |
SCN2A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6647 |
| Gene Symbol: |
SOD1 |
SOD1
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Bromocriptine methylate suppresses glial inflammation and moderates disease progression in a mouse model of amyotrophic lateral sclerosis.
|
21867702 |
2011 |
|
| Entrez Id: |
54902 |
| Gene Symbol: |
TTC19 |
TTC19
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
|
21278747 |
2011 |
|
| Entrez Id: |
3897 |
| Gene Symbol: |
L1CAM |
L1CAM
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.
|
7920660 |
1994 |
|
| Entrez Id: |
10943 |
| Gene Symbol: |
MSL3 |
MSL3
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation.
|
30224647 |
2018 |
|
| Entrez Id: |
8893 |
| Gene Symbol: |
EIF2B5 |
EIF2B5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1725 |
| Gene Symbol: |
DHPS |
DHPS
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2132 |
| Gene Symbol: |
EXT2 |
EXT2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7167 |
| Gene Symbol: |
TPI1 |
TPI1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55163 |
| Gene Symbol: |
PNPO |
PNPO
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2566 |
| Gene Symbol: |
GABRG2 |
GABRG2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2561 |
| Gene Symbol: |
GABRB2 |
GABRB2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
26580 |
| Gene Symbol: |
BSCL2 |
BSCL2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|