|
| Entrez Id: |
57190 |
| Gene Symbol: |
SELENON |
SELENON
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
| Entrez Id: |
57190 |
| Gene Symbol: |
SELENON |
SELENON
|
0.750 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
57190 |
| Gene Symbol: |
SELENON |
SELENON
|
0.750 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
58 |
| Gene Symbol: |
ACTA1 |
ACTA1
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
7170 |
| Gene Symbol: |
TPM3 |
TPM3
|
0.740 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
58 |
| Gene Symbol: |
ACTA1 |
ACTA1
|
0.740 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
7169 |
| Gene Symbol: |
TPM2 |
TPM2
|
0.610 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
7169 |
| Gene Symbol: |
TPM2 |
TPM2
|
0.610 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
4625 |
| Gene Symbol: |
MYH7 |
MYH7
|
0.440 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
4625 |
| Gene Symbol: |
MYH7 |
MYH7
|
0.440 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
6261 |
| Gene Symbol: |
RYR1 |
RYR1
|
0.440 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
4625 |
| Gene Symbol: |
MYH7 |
MYH7
|
0.440 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
6261 |
| Gene Symbol: |
RYR1 |
RYR1
|
0.440 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
| Entrez Id: |
64419 |
| Gene Symbol: |
MTMR14 |
MTMR14
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
84876 |
| Gene Symbol: |
ORAI1 |
ORAI1
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
6786 |
| Gene Symbol: |
STIM1 |
STIM1
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
124093 |
| Gene Symbol: |
CCDC78 |
CCDC78
|
0.300 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
| Entrez Id: |
10585 |
| Gene Symbol: |
POMT1 |
POMT1
|
0.200 |
Biomarker
|
disease |
MGD |
|
|
|
|
| Entrez Id: |
3679 |
| Gene Symbol: |
ITGA7 |
ITGA7
|
0.510 |
Biomarker
|
disease |
MGD |
α6β1 and α7β1 integrins are required in Schwann cells to sort axons.
|
24227711 |
2013 |
|
| Entrez Id: |
57190 |
| Gene Symbol: |
SELENON |
SELENON
|
0.750 |
GeneticVariation
|
disease |
UNIPROT |
CFTD is the fourth clinicopathological presentation that can be associated with mutations in SEPN1.
|
16365872 |
2006 |
|
| Entrez Id: |
57190 |
| Gene Symbol: |
SELENON |
SELENON
|
0.750 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
CFTD is the fourth clinicopathological presentation that can be associated with mutations in SEPN1.
|
16365872 |
2006 |
|
| Entrez Id: |
57190 |
| Gene Symbol: |
SELENON |
SELENON
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
CFTD is the fourth clinicopathological presentation that can be associated with mutations in SEPN1.
|
16365872 |
2006 |
|
| Entrez Id: |
57190 |
| Gene Symbol: |
SELENON |
SELENON
|
0.750 |
CausalMutation
|
disease |
CLINVAR |
CFTD is the fourth clinicopathological presentation that can be associated with mutations in SEPN1.
|
16365872 |
2006 |
|
| Entrez Id: |
58 |
| Gene Symbol: |
ACTA1 |
ACTA1
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
Congenital myopathy with fibre type disproportion (CFTD) has been associated with mutations in ACTA1, SEPN1, RYR1 and TPM3 genes.
|
20951040 |
2010 |
|
| Entrez Id: |
57190 |
| Gene Symbol: |
SELENON |
SELENON
|
0.750 |
GeneticVariation
|
disease |
BEFREE |
Congenital myopathy with fibre type disproportion (CFTD) has been associated with mutations in ACTA1, SEPN1, RYR1 and TPM3 genes.
|
20951040 |
2010 |