Search results for "[genes] CHRNE"

13 hits were found for '[genes] CHRNE'

# Family MCID Name MIFTS Score
1
P CNG001 Congenital Myasthenic Syndrome 55 21.805
2
MYS061 Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency 33 20.188
3
c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 22 20.188
4
c MYS060 Myasthenic Syndrome, Congenital, 4b, Fast-Channel 19 20.188
5
P MYS003 Myasthenia Gravis 67 16.483
6
P ESC003 Escobar Syndrome 59 16.483
7
P PTS002 Ptosis 51 14.275
8
NRM006 Neuromuscular Junction Disease 35 14.275
9
P SLW003 Slow-Channel Congenital Myasthenic Syndrome 33 14.275
10
P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 33 14.275
11
P PST063 Postsynaptic Congenital Myasthenic Syndromes 25 14.275
12
c CHR331 Chrne-Related Congenital Myasthenic Syndrome 7 14.275
13
CNG113 Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency 17 11.655