|
| 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: |
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: |
26353 |
| Gene Symbol: |
HSPB8 |
HSPB8
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.
|
29029362 |
2018 |
|
| Entrez Id: |
26353 |
| Gene Symbol: |
HSPB8 |
HSPB8
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.
|
28501893 |
2017 |
|
| Entrez Id: |
26353 |
| Gene Symbol: |
HSPB8 |
HSPB8
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.
|
26976520 |
2016 |
|
| Entrez Id: |
8988 |
| Gene Symbol: |
HSPB3 |
HSPB3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
81846 |
| Gene Symbol: |
SBF2 |
SBF2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5165 |
| Gene Symbol: |
PDK3 |
PDK3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3094 |
| Gene Symbol: |
HINT1 |
HINT1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55958 |
| Gene Symbol: |
KLHL9 |
KLHL9
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9997 |
| Gene Symbol: |
SCO2 |
SCO2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5376 |
| Gene Symbol: |
PMP22 |
PMP22
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
823 |
| Gene Symbol: |
CAPN1 |
CAPN1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
50846 |
| Gene Symbol: |
DHH |
DHH
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
64423 |
| Gene Symbol: |
INF2 |
INF2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
50717 |
| Gene Symbol: |
DCAF8 |
DCAF8
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4358 |
| Gene Symbol: |
MPV17 |
MPV17
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4141 |
| Gene Symbol: |
MARS1 |
MARS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
59345 |
| Gene Symbol: |
GNB4 |
GNB4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10020 |
| Gene Symbol: |
GNE |
GNE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5375 |
| Gene Symbol: |
PMP2 |
PMP2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7879 |
| Gene Symbol: |
RAB7A |
RAB7A
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3035 |
| Gene Symbol: |
HARS1 |
HARS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|