Search results for scn4a

204 hits were found for scn4a

# Family MCID Name MIFTS Score
1
MYT030 Myotonia, Potassium-Aggravated 48 132.120
2
HYP052 Hyperkalemic Periodic Paralysis 62 73.790
3
c MYS064 Myasthenic Syndrome, Congenital, 16 34 62.201
4
PRM057 Paramyotonia Congenita of Von Eulenburg 59 60.484
5
HYP606 Hypokalemic Periodic Paralysis, Type 2 37 48.427
6
P HYP370 Hypokalemic Periodic Paralysis, Type 1 64 47.842
7
P CNG001 Congenital Myasthenic Syndrome 68 41.383
8
MYT011 Myotonia 37 29.576
9
P MYP004 Myopathy 67 27.200
10
NRM009 Normokalemic Periodic Paralysis 28 23.185
11
P PRD021 Periodic Paralysis 42 22.171
12
P MYT023 Myotonia Congenita 55 19.633
13
P DST002 Distal Arthrogryposis 63 11.492
14
NRM005 Neuromuscular Disease 62 11.199
15
MSC007 Muscle Hypertrophy 64 11.169
16
HYP005 Hypokalemia 55 11.128
17
FML036 Familial Periodic Paralysis 43 10.873
18
P MLG056 Malignant Hyperthermia 65 10.619
19
c PNS012 Paine Syndrome 60 10.548
20
P BRG001 Brugada Syndrome 69 10.300
21
SDD001 Sudden Infant Death Syndrome 60 10.236
22
P EPS003 Episodic Ataxia 59 9.783
23
P MSC005 Muscular Dystrophy 66 9.477
24
P CHR071 Charcot-Marie-Tooth Disease 64 9.328
25
P PTS002 Ptosis 52 9.269
26
BTT016 Batten-Turner Congenital Myopathy 54 9.003
27
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 55 8.465
28
P THY054 Thyrotoxic Periodic Paralysis 51 8.308
29
c MYT020 Myotonic Dystrophy 2 57 8.264
30
c GRV008 Graves Disease 1 54 8.128
31
P PRD017 Periodic Paralyses 24 7.970
32
P FTL069 Fetal Akinesia Deformation Sequence 1 63 7.876
33
P STR020 Strabismus 56 7.703
34
MYT003 Myotonic Disease 37 7.646
35
PST063 Postsynaptic Congenital Myasthenic Syndromes 34 7.621
36
c JBR025 Joubert Syndrome 17 45 7.150
37
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 61 6.906
38
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 59 6.883
39
MLG086 Malignant Hyperthermia Susceptibility 40 6.832
40
DRV001 Dravet Syndrome 69 6.804
41
PSD063 Pseudohyperkalemia, Familial, 2, Due to Red Cell Leak 56 6.739
42
P LNG028 Long Qt Syndrome 63 6.739
43
P PRP019 Peripheral Nervous System Disease 57 6.739
44
P EPL140 Epilepsy, Idiopathic Generalized 60 6.596
45
P ERY008 Erythromelalgia 50 6.596
46
c LNG044 Long Qt Syndrome 1 66 6.453
47
c MGR028 Migraine with or Without Aura 1 63 6.453
48
PRX015 Paroxysmal Extreme Pain Disorder 56 6.453
49
c LNG048 Long Qt Syndrome 3 52 6.453
50
c MGR031 Migraine, Familial Hemiplegic, 3 48 6.453
51
P ERL057 Early Infantile Epileptic Encephalopathy 61 6.453
52
TRG002 Trigeminal Neuralgia 61 6.453
53
c NRP031 Neuropathy, Hereditary Sensory and Autonomic, Type Vii 46 6.453
54
MXL016 Maxillonasal Dysplasia, Binder Type 32 6.453
55
HRT008 Heart Conduction Disease 45 6.453
56
P NRM006 Neuromuscular Junction Disease 34 6.453
57
ISL151 Isolated Elevated Serum Creatine Phosphokinase Levels 39 6.453
58
TRG003 Trigeminal Nerve Disease 38 6.453
59
MTL002 Metal Metabolism Disorder 31 6.453
60
NND001 Nondystrophic Myotonia 20 3.405
61
c MYT027 Myotonia Congenita, Autosomal Dominant 37 2.583
62
P MYT002 Myotonic Dystrophy 51 2.327
63
P MCR010 Microcephaly 59 2.012
64
P SCL018 Scoliosis 57 1.768
65
c MYT029 Myotonia Congenita, Autosomal Recessive 41 1.766
66
END021 Endomyocardial Fibrosis 56 1.728
67
P HYP265 Hypotonia 42 1.655
68
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 51 1.641
69
P EPL164 Epilepsy 70 1.360
70
MCH006 Mechanical Strabismus 40 1.250
71
HYP264 Hypertonia 35 1.250
72
FBR047 Fibromyalgia 57 1.178
73
c MLG148 Malignant Hyperthermia 2 23 1.111
74
P GRV001 Graves' Disease 54 1.087
75
P HYP076 Hyperthyroidism 53 1.063
76
c BRG005 Brugada Syndrome 1 56 1.037
77
c CHR579 Chiari Malformation Type Ii 44 0.944
78
MTB008 Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 42 0.944
79
P HYD006 Hydrocephalus 62 0.944
80
P CHR342 Chiari Malformation 41 0.944
81
CNG506 Congenital Amyoplasia 27 0.944
82
NND013 Non-Dystrophic Myopathy 7 0.944
83
GST092 Gastroesophageal Reflux 59 0.906
84
P LRY029 Laryngomalacia 47 0.906
85
P MYS003 Myasthenia Gravis 67 0.906
86
CLB002 Clubfoot 50 0.906
87
P MLN008 Melanoma 75 0.906
88
P TRM003 Tremor 50 0.906
89
LPD012 Lipoid Congenital Adrenal Hyperplasia 68 0.860
90
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 50 0.860
91
HYP744 Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 42 0.860
92
MSC190 Muscular Disease 36 0.860
93
P RSP003 Respiratory Failure 73 0.860
94
P CRN037 Craniosynostosis 67 0.860
95
CNS004 Constipation 56 0.860
96
c ESS001 Essential Tremor 56 0.860
97
SYN005 Synostosis 43 0.860
98
DYS073 Dysphagia 53 0.860
99
P JBR020 Joubert Syndrome 1 74 0.697
100
P ALT001 Alternating Hemiplegia of Childhood 56 0.657
101
P TRT019 Torticollis 47 0.657
102
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.657
103
HMP005 Hemiplegia 53 0.657
104
P BRS047 Breast Cancer 97 0.602
105
P PNC035 Pancreatic Cancer 87 0.602
106
FML159 Familial Periodic Paralyses 16 0.555
107
c MLG151 Malignant Hyperthermia 5 29 0.536
108
P BLD062 Bile Duct Cancer 69 0.534
109
SQM016 Squamous Cell Carcinoma of Gallbladder and Extrahepatic Biliary Tract 16 0.534
110
CRC045 Carcinoma of Gallbladder and Extrahepatic Biliary Tract 20 0.534
111
P HPT023 Hepatocellular Carcinoma 95 0.521
112
CRD223 Cardiac Arrhythmia 63 0.453
113
P FBR031 Febrile Seizures 52 0.453
114
GNT046 Genetic Epilepsy with Febrile Seizures Plus 30 0.430
115
IRN008 Iron Overload in Africa 50 0.378
116
c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 59 0.378
117
c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57 0.378
118
c HPT073 Hepatitis C Virus 70 0.378
119
RJS001 Ruijs-Aalfs Syndrome 47 0.378
120
c CLR087 Colorectal Cancer 12 34 0.378
121
GST103 Gastric Cancer, Hereditary Diffuse 68 0.378
122
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 0.378
123
ADL096 Adult Hepatocellular Carcinoma 60 0.378
124
HPT079 Hepatoid Adenocarcinoma 39 0.378
125
PDT042 Pediatric Hepatocellular Carcinoma 51 0.378
126
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.378
127
SML009 Small Intestine Adenocarcinoma 57 0.378
128
FBR086 Fibrolamellar Carcinoma 59 0.378
129
HPT011 Hepatocellular Clear Cell Carcinoma 46 0.378
130
PTY007 Pityriasis Rotunda 27 0.378
131
CRD132 Cardiac Conduction Defect 59 0.351
132
c MLG149 Malignant Hyperthermia 3 21 0.321
133
P HNT016 Huntington Disease 73 0.321
134
c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 37 0.248
135
SYN036 Syncope 44 0.248
136
c THY084 Thyrotoxic Periodic Paralysis 1 35 0.203
137
P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 57 0.203
138
c BRN108 Branchiootic Syndrome 1 63 0.203
139
CNT105 Central Core Disease of Muscle 59 0.203
140
c CHR608 Charcot-Marie-Tooth Disease, Axonal, Type 2p 47 0.203
141
c AMY091 Amyotrophic Lateral Sclerosis 1 87 0.203
142
BRD001 Brody Myopathy 55 0.203
143
c CHR422 Charcot-Marie-Tooth Disease, Dominant Intermediate B 49 0.203
144
TTH006 Tooth Disease 51 0.203
145
P ECL001 Eclampsia 52 0.203
146
P LTR001 Lateral Sclerosis 57 0.203
147
STT001 Status Epilepticus 58 0.203
148
MDD011 Mood Disorder 61 0.203
149
QDR001 Quadriplegia 49 0.203
150
c PRC016 Pre-Eclampsia 64 0.203
151
P CNT004 Centronuclear Myopathy 56 0.203
152
c SVR110 Severe Congenital Neutropenia 4 16 0.203
153
P CTR002 Cataract 59 0.203
154
P MSC003 Muscular Atrophy 52 0.203
155
P NRP001 Neuropathy 59 0.203
156
P SZR006 Seizure Disorder 69 0.203
157
ANX004 Anoxia 40 0.203
158
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.143
159
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.143
160
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.143
161
c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 33 0.143
162
P RPP006 Rippling Muscle Disease 2 44 0.143
163
MYS061 Myasthenic Syndrome, Congenital, 4c, Associated with Acetylcholine Receptor Deficiency 50 0.143
164
P OST002 Osteoporosis 76 0.143
165
PPL052 Papillomatosis, Confluent and Reticulated 34 0.143
166
c SZR022 Seizures, Benign Familial Neonatal, 1 42 0.143
167
MNC011 Minicore Myopathy with External Ophthalmoplegia 38 0.143
168
P EPS030 Episodic Kinesigenic Dyskinesia 1 55 0.143
169
HYP784 Hypogonadism, Male 43 0.143
170
MSC157 Muscular Dystrophy, Duchenne Type 78 0.143
171
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 0.143
172
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.143
173
CYN002 Cyanosis, Transient Neonatal 43 0.143
174
HLX001 Helix Syndrome 47 0.143
175
PRP083 Porphyria, Acute Intermittent 64 0.143
176
c THY083 Thyrotoxic Periodic Paralysis 2 28 0.143
177
c GLY011 Glycogen Storage Disease Vii 54 0.143
178
c SHR033 Short Qt Syndrome 3 30 0.143
179
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 64 0.143
180
P MYS079 Miyoshi Muscular Dystrophy 53 0.143
181
HYP080 Hypogonadism 49 0.143
182
PRG001 Progressive Muscular Atrophy 41 0.143
183
P DYS007 Dyskeratosis Congenita 66 0.143
184
P GLY013 Glycogen Storage Disease 59 0.143
185
P SPN046 Spinal Muscular Atrophy 62 0.143
186
P MVM001 Movement Disease 61 0.143
187
ADN018 Adenoma 58 0.143
188
P MTR014 Motor Neuron Disease 65 0.143
189
P PRP029 Porphyria 60 0.143
190
P PLM036 Pulmonary Fibrosis 65 0.143
191
GTR002 Goiter 52 0.143
192
PLM011 Plummer's Disease 34 0.143
193
P CNT009 Central Core Myopathy 44 0.143
194
P LMB006 Limb-Girdle Muscular Dystrophy 52 0.143
195
CNG113 Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency 22 0.143
196
MLT028 Multiminicore Disease 44 0.143
197
ORL012 Oral Leukoplakia 35 0.143
198
P SKL032 Skeletal Muscle Disease 25 0.143
199
c FML294 Familial Short Qt Syndrome 44 0.143
200
P INH011 Inherited Bone Marrow Failure Syndromes 33 0.143
201
LKP003 Leukoplakia 39 0.143
202
P MYC033 Myoclonus 46 0.143
203
P SLW003 Slow-Channel Congenital Myasthenic Syndrome 36 0.143
204
HYP266 Hypoxia 56 0.143
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