|
OMIM |
Link |
Information
gain |
01 |
|
|
myotonia congenita, autosomal dominant
|
[NCBI]
|
0.00220312
|
|
|
|
PMC
|
[NCBI]
|
0.00184713
|
|
|
|
CLCN1
|
[NCBI]
|
0.00161547
|
|
|
|
myopathy, tubular aggregate
|
[NCBI]
|
0.00111789
|
|
|
|
SCN4A
|
[NCBI]
|
0.00085347
|
|
|
|
myotonia congenita, autosomal recessive
|
[NCBI]
|
0.000582196
|
|
|
|
HYPP
|
[NCBI]
|
0.000522569
|
|
|
|
myotonia, potassium-aggravated
|
[NCBI]
|
0.000376644
|
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
0.000150727
|
|
|
|
myopathy, granulovacuolar lobular, with electrical myotonia
|
[NCBI]
|
0.000118781
|
|
|
|
SJS1
|
[NCBI]
|
0.000104935
|
|
|
|
glomerulonephritis with sparse hair and telangiectases
|
[NCBI]
|
8.23491e-05
|
|
|
|
stuve-wiedemann syndrome
|
[NCBI]
|
5.93716e-05
|
|
|
|
EA1
|
[NCBI]
|
5.83006e-05
|
|
|
|
RMD
|
[NCBI]
|
5.09723e-05
|
|
|
|
CAV3
|
[NCBI]
|
3.97744e-05
|
|
|
|
DM2
|
[NCBI]
|
3.89127e-05
|
|
|
|
MTM1
|
[NCBI]
|
3.80436e-05
|
|
