|
| 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: |
56652 |
| Gene Symbol: |
TWNK |
TWNK
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1674 |
| Gene Symbol: |
DES |
DES
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10290 |
| Gene Symbol: |
SPEG |
SPEG
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79912 |
| Gene Symbol: |
PYROXD1 |
PYROXD1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
7273 |
| Gene Symbol: |
TTN |
TTN
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5111 |
| Gene Symbol: |
PCNA |
PCNA
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3508 |
| Gene Symbol: |
IGHMBP2 |
IGHMBP2
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5192 |
| Gene Symbol: |
PEX10 |
PEX10
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4625 |
| Gene Symbol: |
MYH7 |
MYH7
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
55670 |
| Gene Symbol: |
PEX26 |
PEX26
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
64374 |
| Gene Symbol: |
SIL1 |
SIL1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5189 |
| Gene Symbol: |
PEX1 |
PEX1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5428 |
| Gene Symbol: |
POLG |
POLG
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
11155 |
| Gene Symbol: |
LDB3 |
LDB3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5193 |
| Gene Symbol: |
PEX12 |
PEX12
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5194 |
| Gene Symbol: |
PEX13 |
PEX13
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
27235 |
| Gene Symbol: |
COQ2 |
COQ2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4358 |
| Gene Symbol: |
MPV17 |
MPV17
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
274 |
| Gene Symbol: |
BIN1 |
BIN1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
5830 |
| Gene Symbol: |
PEX5 |
PEX5
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4358 |
| Gene Symbol: |
MPV17 |
MPV17
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5631 |
| Gene Symbol: |
PRPS1 |
PRPS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|