|
| 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: |
6616 |
| Gene Symbol: |
SNAP25 |
SNAP25
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
339855 |
| Gene Symbol: |
KY |
KY
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
RNASEH2C
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3315 |
| Gene Symbol: |
HSPB1 |
HSPB1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6506 |
| Gene Symbol: |
SLC1A2 |
SLC1A2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
85365 |
| Gene Symbol: |
ALG2 |
ALG2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
84504 |
| Gene Symbol: |
NKX6-2 |
NKX6-2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
80208 |
| Gene Symbol: |
SPG11 |
SPG11
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2895 |
| Gene Symbol: |
GRID2 |
GRID2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6812 |
| Gene Symbol: |
STXBP1 |
STXBP1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1605 |
| Gene Symbol: |
DAG1 |
DAG1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55157 |
| Gene Symbol: |
DARS2 |
DARS2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
80821 |
| Gene Symbol: |
DDHD1 |
DDHD1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5165 |
| Gene Symbol: |
PDK3 |
PDK3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
57165 |
| Gene Symbol: |
GJC2 |
GJC2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
267010 |
| Gene Symbol: |
RNU12 |
RNU12
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6683 |
| Gene Symbol: |
SPAST |
SPAST
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
825 |
| Gene Symbol: |
CAPN3 |
CAPN3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23769 |
| Gene Symbol: |
FLRT1 |
FLRT1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2218 |
| Gene Symbol: |
FKTN |
FKTN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5530 |
| Gene Symbol: |
PPP3CA |
PPP3CA
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10324 |
| Gene Symbol: |
KLHL41 |
KLHL41
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|