Search results for scn4a

87 hits were found for scn4a

# Family MCID Name MIFTS Score
1
c MYS064 Myasthenic Syndrome, Congenital, 16 32 14.839
2
MYT030 Myotonia, Potassium-Aggravated 45 9.075
3
HYP052 Hyperkalemic Periodic Paralysis 61 8.786
4
PRM057 Paramyotonia Congenita of Von Eulenburg 58 7.655
5
c HYP606 Hypokalemic Periodic Paralysis, Type 2 37 6.431
6
P HYP370 Hypokalemic Periodic Paralysis, Type 1 64 4.565
7
P MYP004 Myopathy 70 4.375
8
P PRD021 Periodic Paralysis 45 4.369
9
MYT011 Myotonia 34 3.984
10
P CNG001 Congenital Myasthenic Syndrome 66 3.895
11
NRM009 Normokalemic Periodic Paralysis 28 3.612
12
P MYT023 Myotonia Congenita 56 3.597
13
NRM005 Neuromuscular Disease 64 2.436
14
HYP005 Hypokalemia 55 2.407
15
c FML036 Familial Periodic Paralysis 44 2.407
16
P BRG001 Brugada Syndrome 71 2.373
17
P MLG056 Malignant Hyperthermia 67 2.373
18
P EPS003 Episodic Ataxia 59 2.373
19
P MSC005 Muscular Dystrophy 66 2.332
20
P CHR071 Charcot-Marie-Tooth Disease 65 2.332
21
P PTS002 Ptosis 53 2.332
22
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 55 1.806
23
c GRV008 Graves Disease 1 56 1.776
24
c PNS012 Paine Syndrome 61 1.742
25
P STR020 Strabismus 55 1.702
26
PST063 Postsynaptic Congenital Myasthenic Syndromes 34 1.702
27
c EPL184 Epileptic Encephalopathy, Early Infantile, 6 70 1.649
28
c MGR028 Migraine with or Without Aura 1 67 1.649
29
c LNG044 Long Qt Syndrome 1 66 1.649
30
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 1.649
31
P ERL057 Early Infantile Epileptic Encephalopathy 63 1.649
32
P EPL140 Epilepsy, Idiopathic Generalized 62 1.649
33
PRX015 Paroxysmal Extreme Pain Disorder 58 1.649
34
P PRP019 Peripheral Nervous System Disease 58 1.649
35
c MYT020 Myotonic Dystrophy 2 57 1.649
36
PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 56 1.649
37
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 55 1.649
38
P ERY008 Erythromelalgia 47 1.649
39
ISL151 Isolated Elevated Serum Creatine Phosphokinase Levels 40 1.649
40
MLG086 Malignant Hyperthermia Susceptibility 39 1.649
41
P NRM006 Neuromuscular Junction Disease 35 1.649
42
MYT003 Myotonic Disease 35 1.649
43
MXL016 Maxillonasal Dysplasia, Binder Type 32 1.649
44
MTL002 Metal Metabolism Disorder 30 1.649
45
c TRM022 Tremor, Hereditary Essential, 5 28 1.649
46
P PRD017 Periodic Paralyses 25 1.649
47
NND001 Nondystrophic Myotonia 20 0.190
48
c MYP132 Myopathy, Congenital 55 0.155
49
P MYT002 Myotonic Dystrophy 49 0.155
50
MSC007 Muscle Hypertrophy 64 0.127
51
P SCL018 Scoliosis 60 0.127
52
P DST002 Distal Arthrogryposis 63 0.110
53
P THY054 Thyrotoxic Periodic Paralysis 46 0.110
54
P HYP265 Hypotonia 43 0.110
55
c THY083 Thyrotoxic Periodic Paralysis 2 31 0.110
56
P FTL069 Fetal Akinesia Deformation Sequence 1 64 0.090
57
c ART144 Arthrogryposis, Distal, Type 1a 61 0.090
58
FBR047 Fibromyalgia 58 0.090
59
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 53 0.090
60
P RSP003 Respiratory Failure 74 0.063
61
P EPL164 Epilepsy 71 0.063
62
P CRN037 Craniosynostosis 68 0.063
63
P MYS003 Myasthenia Gravis 68 0.063
64
P HYD006 Hydrocephalus 66 0.063
65
SDD001 Sudden Infant Death Syndrome 61 0.063
66
CNS004 Constipation 58 0.063
67
c ESS001 Essential Tremor 56 0.063
68
P GRV001 Graves' Disease 55 0.063
69
P HYP076 Hyperthyroidism 55 0.063
70
HMP005 Hemiplegia 55 0.063
71
P TRM003 Tremor 54 0.063
72
P ALT001 Alternating Hemiplegia of Childhood 53 0.063
73
ALK024 Alkuraya-Kucinskas Syndrome 51 0.063
74
CLB002 Clubfoot 51 0.063
75
DYS073 Dysphagia 50 0.063
76
P TRT019 Torticollis 48 0.063
77
SYN005 Synostosis 45 0.063
78
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.063
79
c CHR579 Chiari Malformation Type Ii 44 0.063
80
MCH006 Mechanical Strabismus 42 0.063
81
P CHR342 Chiari Malformation 41 0.063
82
HYP264 Hypertonia 38 0.063
83
MSC190 Muscular Disease 37 0.063
84
c MYT027 Myotonia Congenita, Autosomal Dominant 34 0.063
85
CNG506 Congenital Amyoplasia 27 0.063
86
c MLG148 Malignant Hyperthermia 2 24 0.063
87
NND013 Non-Dystrophic Myopathy 6 0.063
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