|
| 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: |
10585 |
| Gene Symbol: |
POMT1 |
POMT1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7415 |
| Gene Symbol: |
VCP |
VCP
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9927 |
| Gene Symbol: |
MFN2 |
MFN2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79147 |
| Gene Symbol: |
FKRP |
FKRP
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
10049 |
| Gene Symbol: |
DNAJB6 |
DNAJB6
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
122622 |
| Gene Symbol: |
ADSS1 |
ADSS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
29954 |
| Gene Symbol: |
POMT2 |
POMT2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2318 |
| Gene Symbol: |
FLNC |
FLNC
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
274 |
| Gene Symbol: |
BIN1 |
BIN1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9499 |
| Gene Symbol: |
MYOT |
MYOT
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
84197 |
| Gene Symbol: |
POMK |
POMK
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5428 |
| Gene Symbol: |
POLG |
POLG
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
58 |
| Gene Symbol: |
ACTA1 |
ACTA1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
203859 |
| Gene Symbol: |
ANO5 |
ANO5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
203547 |
| Gene Symbol: |
VMA21 |
VMA21
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79912 |
| Gene Symbol: |
PYROXD1 |
PYROXD1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
79912 |
| Gene Symbol: |
PYROXD1 |
PYROXD1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
85365 |
| Gene Symbol: |
ALG2 |
ALG2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8291 |
| Gene Symbol: |
DYSF |
DYSF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6683 |
| Gene Symbol: |
SPAST |
SPAST
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
199857 |
| Gene Symbol: |
ALG14 |
ALG14
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|