Search results for CACNA1E

196 hits were found for CACNA1E

# Family MCID Name MIFTS Score
1
c DVL093 Developmental and Epileptic Encephalopathy 69 24 41.506
2
P DVL113 Developmental and Epileptic Encephalopathy 43 13.402
3
P HYP370 Hypokalemic Periodic Paralysis, Type 1 64 11.337
4
P PRD021 Periodic Paralysis 41 10.888
5
P INN002 Inner Ear Disease 50 10.643
6
c MGR028 Migraine with or Without Aura 1 64 10.147
7
P MGR003 Migraine with Aura 52 9.965
8
P MLG056 Malignant Hyperthermia 66 9.804
9
c MGR032 Migraine, Familial Hemiplegic, 1 54 9.649
10
DSS008 Disease of Mental Health 74 9.194
11
P EPS003 Episodic Ataxia 59 8.338
12
P RTN008 Retinitis Pigmentosa 80 8.100
13
c EPS035 Episodic Ataxia, Type 2 63 7.525
14
P EPL140 Epilepsy, Idiopathic Generalized 62 7.525
15
c SYN170 Syndromic X-Linked Intellectual Disability 94 21 7.525
16
P CNG010 Congenital Stationary Night Blindness 56 7.525
17
VCT005 Vacterl Association, X-Linked, with or Without Hydrocephalus 41 7.525
18
FLC002 Fleck Retina, Familial Benign 41 7.525
19
c SPN309 Spinocerebellar Ataxia 6 58 7.525
20
c 46X030 46,xy Sex Reversal 9 43 7.525
21
FND002 Fundus Dystrophy 55 7.525
22
P CHL002 Childhood Absence Epilepsy 63 7.525
23
MLG086 Malignant Hyperthermia Susceptibility 39 6.092
24
P MYP004 Myopathy 67 6.088
25
P THY054 Thyrotoxic Periodic Paralysis 50 5.740
26
HYP005 Hypokalemia 55 4.170
27
FML036 Familial Periodic Paralysis 43 3.422
28
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 50 3.382
29
P HYP265 Hypotonia 42 3.230
30
BTT016 Batten-Turner Congenital Myopathy 53 2.829
31
P ENC018 Encephalopathy 62 2.760
32
c MLG151 Malignant Hyperthermia 5 27 2.638
33
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 2.638
34
NRM009 Normokalemic Periodic Paralysis 28 2.622
35
FML159 Familial Periodic Paralyses 16 2.533
36
P MVM001 Movement Disease 61 2.532
37
CNG065 Congenital Contractures 25 2.532
38
P FML023 Familial Hemiplegic Migraine 53 2.440
39
c GRV008 Graves Disease 1 54 2.440
40
MYT011 Myotonia 39 2.440
41
P MGR001 Migraine Without Aura 49 2.341
42
ESP021 Esophageal Cancer 83 2.313
43
ESP027 Esophagus Squamous Cell Carcinoma 45 2.313
44
HYP606 Hypokalemic Periodic Paralysis, Type 2 37 2.299
45
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 2.243
46
P EPL164 Epilepsy 68 2.236
47
MGR035 Migraine with Brainstem Aura 20 2.123
48
HYP052 Hyperkalemic Periodic Paralysis 63 2.073
49
KRN002 Kearns-Sayre Syndrome 63 2.001
50
MTB016 Metabolic Myopathy 30 1.865
51
P CNT004 Centronuclear Myopathy 57 1.865
52
PNG002 Pain Agnosia 51 1.711
53
WLF001 Wolff-Parkinson-White Syndrome 65 1.669
54
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 1.626
55
P PRD017 Periodic Paralyses 24 1.626
56
P MJR001 Major Depressive Disorder 68 1.528
57
MNT002 Mental Depression 57 1.528
58
DPR016 Depression 65 1.528
59
AGN016 Aging 54 1.521
60
c GLM047 Glioma Susceptibility 3 33 1.463
61
c MSM022 Mismatch Repair Cancer Syndrome 1 70 1.463
62
c GLM025 Glioma Susceptibility 2 30 1.463
63
c GLM043 Glioma Susceptibility 9 30 1.463
64
P GLM040 Glioma Susceptibility 1 71 1.463
65
MNN043 Meningioma, Familial 79 1.463
66
P OLG002 Oligodendroglioma 66 1.463
67
GLM045 Glioma 63 1.463
68
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 61 1.408
69
NRM005 Neuromuscular Disease 63 1.408
70
P HYP076 Hyperthyroidism 53 1.408
71
P BRG001 Brugada Syndrome 69 1.290
72
CNT105 Central Core Disease of Muscle 59 1.285
73
P MSC005 Muscular Dystrophy 67 1.285
74
47X002 47,xyy 48 1.285
75
PRM057 Paramyotonia Congenita of Von Eulenburg 59 1.150
76
MTB004 Metabolic Acidosis 48 1.150
77
P GRV001 Graves' Disease 55 1.150
78
IRN008 Iron Overload in Africa 51 1.034
79
c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57 1.034
80
HPT079 Hepatoid Adenocarcinoma 39 1.034
81
NNL005 Non-Alcoholic Fatty Liver Disease 63 1.034
82
RJS001 Ruijs-Aalfs Syndrome 47 1.034
83
c HPT073 Hepatitis C Virus 71 1.034
84
P HPT023 Hepatocellular Carcinoma 96 1.034
85
PDT042 Pediatric Hepatocellular Carcinoma 49 1.034
86
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 1.034
87
ADL096 Adult Hepatocellular Carcinoma 60 1.034
88
FBR086 Fibrolamellar Carcinoma 59 1.034
89
HPT011 Hepatocellular Clear Cell Carcinoma 46 1.034
90
PTY007 Pityriasis Rotunda 26 1.034
91
CNG506 Congenital Amyoplasia 27 0.996
92
P BLD134 Bladder Cancer 79 0.996
93
MSC157 Muscular Dystrophy, Duchenne Type 79 0.996
94
c MJR022 Major Affective Disorder 8 38 0.996
95
c ATS007 Autism Spectrum Disorder 72 0.996
96
c MJR024 Major Affective Disorder 9 41 0.996
97
P HNT016 Huntington Disease 73 0.996
98
P BPL003 Bipolar Disorder 56 0.996
99
P MYT023 Myotonia Congenita 55 0.996
100
QDR001 Quadriplegia 50 0.996
101
P MYT002 Myotonic Dystrophy 51 0.996
102
NND001 Nondystrophic Myotonia 20 0.996
103
P BRS047 Breast Cancer 98 0.993
104
P ATS364 Autism 69 0.813
105
P LNG032 Lung Cancer 98 0.813
106
P MYS003 Myasthenia Gravis 68 0.813
107
CRD223 Cardiac Arrhythmia 63 0.813
108
c AMY091 Amyotrophic Lateral Sclerosis 1 88 0.813
109
HLC007 Helicobacter Pylori Infection 67 0.813
110
P GST053 Gastric Cancer 83 0.813
111
INT323 Intraocular Pressure Quantitative Trait Locus 64 0.813
112
c MLG147 Malignant Hyperthermia 1 45 0.813
113
OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 55 0.813
114
CRH001 Crohn's Disease 80 0.813
115
FTT001 Fatty Liver Disease 62 0.813
116
GST040 Gastric Adenocarcinoma 67 0.813
117
P LTR001 Lateral Sclerosis 58 0.813
118
P MYG005 Myoglobinuria 40 0.813
119
CNG034 Congestive Heart Failure 69 0.813
120
CRD132 Cardiac Conduction Defect 60 0.715
121
P SKL032 Skeletal Muscle Disease 25 0.575
122
LPD012 Lipoid Congenital Adrenal Hyperplasia 70 0.575
123
PSR001 Psoriatic Arthritis 62 0.575
124
c MLG152 Malignant Hyperthermia 6 18 0.575
125
c EPS042 Episodic Ataxia, Type 1 58 0.575
126
c ATR087 Atrial Standstill 1 74 0.575
127
P PRK057 Parkinson Disease, Late-Onset 80 0.575
128
P FTL069 Fetal Akinesia Deformation Sequence 1 63 0.575
129
P DST002 Distal Arthrogryposis 65 0.575
130
ATS010 Autosomal Recessive Disease 42 0.575
131
c THY083 Thyrotoxic Periodic Paralysis 2 27 0.575
132
c FNC028 Fanconi Anemia, Complementation Group L 46 0.575
133
c ATM024 Autoimmune Pancreatitis 52 0.575
134
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 61 0.575
135
SNT005 Sinoatrial Node Disease 47 0.575
136
c FNC042 Fanconi Anemia, Complementation Group D2 54 0.575
137
URG005 Uruguay Faciocardiomusculoskeletal Syndrome 36 0.575
138
c DPH024 Diaphragmatic Hernia, Congenital 64 0.575
139
P SPN301 Spinocerebellar Ataxia 2 59 0.575
140
c PSR017 Psoriasis 2 53 0.575
141
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 50 0.575
142
c PSR023 Psoriasis 1 52 0.575
143
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.575
144
FRY002 Fryns Syndrome 39 0.575
145
MYP151 Myopathy, Congenital, Bailey-Bloch 47 0.575
146
MLT163 Multiple Pterygium Syndrome, Escobar Variant 64 0.575
147
HYP744 Hyperpigmentation with or Without Hypopigmentation, Familial Progressive 39 0.575
148
c SZR022 Seizures, Benign Familial Neonatal, 1 43 0.575
149
c EXS019 Exostoses, Multiple, Type I 54 0.575
150
MYT030 Myotonia, Potassium-Aggravated 46 0.575
151
NRR001 Neuroretinitis 42 0.575
152
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 63 0.575
153
c CHR684 Chronic Kidney Disease 69 0.575
154
P DYS154 Dystonia 64 0.575
155
RTN023 Retinitis 46 0.575
156
CLL010 Cellular Ependymoma 57 0.575
157
PRX097 Paroxysmal Dystonia 32 0.575
158
P TRM003 Tremor 48 0.575
159
GLB002 Glioblastoma 67 0.575
160
P CNT009 Central Core Myopathy 43 0.575
161
P BNG030 Benign Ependymoma 51 0.575
162
RCK004 Rickets 68 0.575
163
P LNG064 Lung Cancer Susceptibility 3 70 0.575
164
LMB002 Lambert-Eaton Myasthenic Syndrome 52 0.575
165
OST003 Osteonecrosis 61 0.575
166
c DLT002 Dilated Cardiomyopathy 78 0.575
167
GTR002 Goiter 53 0.575
168
DYS009 Dysthymic Disorder 52 0.575
169
DNT012 Dental Caries 53 0.575
170
P VSC007 Vascular Disease 63 0.575
171
P ADN016 Adenocarcinoma 63 0.575
172
GLS001 Gliosarcoma 64 0.575
173
TRN018 Transitional Cell Carcinoma 56 0.575
174
P CRD119 Cardiac Arrest 67 0.575
175
MST005 Mastitis 53 0.575
176
MYX001 Myxopapillary Ependymoma 39 0.575
177
P PNC044 Pancreatitis 61 0.575
178
ISC004 Ischemia 61 0.575
179
MSN004 Mesenchymal Cell Neoplasm 42 0.575
180
P SCK002 Sick Sinus Syndrome 55 0.575
181
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.575
182
SQM006 Squamous Cell Carcinoma 60 0.575
183
P MTR003 Mitral Valve Stenosis 53 0.575
184
P LMB006 Limb-Girdle Muscular Dystrophy 52 0.575
185
P CMP008 Compartment Syndrome 50 0.575
186
STC018 Stac3 Disorder 26 0.575
188
P HDC001 Headache 57 0.575
189
P CHR345 Chronic Pain 50 0.575
190
MLT028 Multiminicore Disease 43 0.575
191
P CRB059 Cerebellar Degeneration 36 0.575
192
MD2001 Med23 20 0.575
193
P PNC035 Pancreatic Cancer 86 0.573
194
c WLM013 Wilms Tumor 1 66 0.573
195
MLD001 Melioidosis 67 0.430
196
PLM001 Pulmonary Tuberculosis 69 0.430
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