|
| Entrez Id: |
859 |
| Gene Symbol: |
CAV3 |
CAV3
|
0.700 |
GeneticVariation
|
phenotype |
UNIPROT |
Molecular and muscle pathology in a series of caveolinopathy patients.
|
15580566 |
2005 |
|
| Entrez Id: |
859 |
| Gene Symbol: |
CAV3 |
CAV3
|
0.700 |
GeneticVariation
|
phenotype |
UNIPROT |
A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.
|
15099591 |
2004 |
|
| Entrez Id: |
859 |
| Gene Symbol: |
CAV3 |
CAV3
|
0.700 |
GeneticVariation
|
phenotype |
UNIPROT |
A CAV3 microdeletion differentially affects skeletal muscle and myocardium.
|
14663034 |
2003 |
|
| Entrez Id: |
859 |
| Gene Symbol: |
CAV3 |
CAV3
|
0.700 |
GeneticVariation
|
phenotype |
UNIPROT |
Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene.
|
12082049 |
2002 |
|
| Entrez Id: |
859 |
| Gene Symbol: |
CAV3 |
CAV3
|
0.700 |
GeneticVariation
|
phenotype |
UNIPROT |
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
|
10746614 |
2000 |
|
| Entrez Id: |
859 |
| Gene Symbol: |
CAV3 |
CAV3
|
0.700 |
Biomarker
|
phenotype |
CTD_human |
|
|
|
|
| Entrez Id: |
859 |
| Gene Symbol: |
CAV3 |
CAV3
|
0.700 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
859 |
| Gene Symbol: |
CAV3 |
CAV3
|
0.700 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
859 |
| Gene Symbol: |
CAV3 |
CAV3
|
0.700 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
128989 |
| Gene Symbol: |
TANGO2 |
TANGO2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
|
26805781 |
2016 |
|
| Entrez Id: |
6786 |
| Gene Symbol: |
STIM1 |
STIM1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2969 |
| Gene Symbol: |
GTF2I |
GTF2I
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1282 |
| Gene Symbol: |
COL4A1 |
COL4A1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4747 |
| Gene Symbol: |
NEFL |
NEFL
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3939 |
| Gene Symbol: |
LDHA |
LDHA
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4744 |
| Gene Symbol: |
NEFH |
NEFH
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4624 |
| Gene Symbol: |
MYH6 |
MYH6
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3908 |
| Gene Symbol: |
LAMA2 |
LAMA2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5310 |
| Gene Symbol: |
PKD1 |
PKD1
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3736 |
| Gene Symbol: |
KCNA1 |
KCNA1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
1376 |
| Gene Symbol: |
CPT2 |
CPT2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
3339 |
| Gene Symbol: |
HSPG2 |
HSPG2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
4572 |
| Gene Symbol: |
TRNQ |
TRNQ
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
285489 |
| Gene Symbol: |
DOK7 |
DOK7
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
58 |
| Gene Symbol: |
ACTA1 |
ACTA1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|