|
| 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: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
103 |
| Gene Symbol: |
ADAR |
ADAR
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4359 |
| Gene Symbol: |
MPZ |
MPZ
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
100506866 |
| Gene Symbol: |
TTN-AS1 |
TTN-AS1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
63895 |
| Gene Symbol: |
PIEZO2 |
PIEZO2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5456 |
| Gene Symbol: |
POU3F4 |
POU3F4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
9420 |
| Gene Symbol: |
CYP7B1 |
CYP7B1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5155 |
| Gene Symbol: |
PDGFB |
PDGFB
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
C12orf65
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6598 |
| Gene Symbol: |
SMARCB1 |
SMARCB1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4771 |
| Gene Symbol: |
NF2 |
NF2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79628 |
| Gene Symbol: |
SH3TC2 |
SH3TC2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23636 |
| Gene Symbol: |
NUP62 |
NUP62
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2617 |
| Gene Symbol: |
GARS1 |
GARS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23503 |
| Gene Symbol: |
ZFYVE26 |
ZFYVE26
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
121512 |
| Gene Symbol: |
FGD4 |
FGD4
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
23111 |
| Gene Symbol: |
SPART |
SPART
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4744 |
| Gene Symbol: |
NEFH |
NEFH
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51684 |
| Gene Symbol: |
SUFU |
SUFU
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
6687 |
| Gene Symbol: |
SPG7 |
SPG7
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|