Search results for "[genes] CHRNA1"

18 hits were found for '[genes] CHRNA1'

# Family MCID Name MIFTS Score
1
P CNG001 Congenital Myasthenic Syndrome 53 21.046
2
P MLT134 Multiple Pterygium Syndrome, Lethal Type 44 21.046
3
c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 32 19.485
4
P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 29 19.485
5
P MYS003 Myasthenia Gravis 59 17.787
6
NRM005 Neuromuscular Disease 45 15.910
7
NRM006 Neuromuscular Junction Disease 28 15.910
8
P ESC003 Escobar Syndrome 53 13.778
9
P SLW003 Slow-Channel Congenital Myasthenic Syndrome 31 13.778
10
P FTL009 Fetal Akinesia Deformation Sequence 51 11.250
11
c PPL046 Popliteal Pterygium Syndrome 1 48 11.250
12
OLG003 Oligohydramnios 42 11.250
13
CYS002 Cystic Lymphangioma 39 11.250
14
c ATM017 Autoimmune Disease of the Nervous System 26 11.250
15
c MYS011 Myasthenia Gravis Congenital 21 11.250
16
P PST063 Postsynaptic Congenital Myasthenic Syndromes 24 7.955
17
c CHR323 Chrna1-Related Congenital Myasthenic Syndrome 10 7.955
18
c CHR324 Chrna1-Related Multiple Pterygium Syndrome, Lethal Type 5 7.955