Search results for kcnq1

377 hits were found for kcnq1

# Family MCID Name MIFTS Score
1
P LNG028 Long Qt Syndrome 64 81.290
2
c LNG044 Long Qt Syndrome 1 66 78.736
3
c FML191 Familial Long Qt Syndrome 55 61.866
4
P JRV004 Jervell and Lange-Nielsen Syndrome 1 56 59.931
5
CRD223 Cardiac Arrhythmia 63 51.415
6
c SHR032 Short Qt Syndrome 2 32 44.096
7
c ATR038 Atrial Fibrillation, Familial, 3 29 42.468
8
HRT008 Heart Conduction Disease 44 38.965
9
c FML294 Familial Short Qt Syndrome 43 38.746
10
P BCK002 Beckwith-Wiedemann Syndrome 62 36.967
11
c FML001 Familial Atrial Fibrillation 65 33.864
12
CRD132 Cardiac Conduction Defect 60 27.824
13
P ATR011 Atrial Fibrillation 66 26.630
14
c SHR030 Short Qt Syndrome 44 26.629
15
c LNG047 Long Qt Syndrome 2 59 26.513
16
SYN036 Syncope 45 21.942
17
SDD001 Sudden Infant Death Syndrome 60 21.094
18
P DBT009 Diabetes Mellitus 67 17.897
19
P BRG001 Brugada Syndrome 69 16.742
20
c TYP009 Type 2 Diabetes Mellitus 92 16.340
21
c PRG126 Progressive Familial Heart Block 58 15.455
22
P CRD119 Cardiac Arrest 67 15.361
23
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 67 14.757
24
P HRT032 Heart Disease 81 14.381
25
ATR057 Atrioventricular Block 54 13.276
26
CYS001 Cystic Fibrosis 78 13.036
27
c DLT002 Dilated Cardiomyopathy 78 12.983
28
P HYP061 Hypertrophic Cardiomyopathy 69 12.968
29
P SNS001 Sensorineural Hearing Loss 59 12.844
30
HYP005 Hypokalemia 55 12.798
31
MRF001 Marfan Syndrome 76 12.540
32
P GNG025 Gingival Fibromatosis 47 12.380
33
c BRN108 Branchiootic Syndrome 1 62 12.297
34
PLY012 Polyhydramnios 46 12.046
35
P MYC007 Myocardial Infarction 70 11.816
36
c LNG048 Long Qt Syndrome 3 53 11.646
37
c LNG050 Long Qt Syndrome 5 46 11.428
38
WLF001 Wolff-Parkinson-White Syndrome 65 11.048
39
P LFT003 Left Ventricular Noncompaction 57 10.595
40
LPP008 Lipoprotein Quantitative Trait Locus 65 10.345
41
CNG034 Congestive Heart Failure 69 9.611
42
c LNG051 Long Qt Syndrome 6 45 9.562
44
c HYP595 Hypertension, Essential 85 9.249
45
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 63 9.163
46
SNT005 Sinoatrial Node Disease 47 9.019
47
c LNG056 Long Qt Syndrome 12 41 8.355
48
P TMT001 Timothy Syndrome 55 8.355
49
c LNG046 Long Qt Syndrome 11 39 8.355
50
c LNG057 Long Qt Syndrome 13 40 7.898
51
c LNG053 Long Qt Syndrome 9 42 7.898
52
VNT035 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 64 7.753
53
P SLV027 Silver-Russell Syndrome 1 52 7.588
54
MRF007 Marfanoid Hypermobility Syndrome 47 7.515
55
STR101 Striatal Degeneration, Autosomal Dominant 1 32 7.515
56
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 61 7.498
57
P BNG026 Benign Neonatal Seizures 49 7.046
58
c LNG098 Long Qt Syndrome 14 42 6.889
59
c BRG004 Brugada Syndrome 4 45 6.889
60
CHR619 Chromosome 2q35 Duplication Syndrome 64 6.889
61
P MTR004 Maturity-Onset Diabetes of the Young 68 6.685
62
P BRT004 Bartter Disease 58 6.685
63
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 6.521
64
P RTN008 Retinitis Pigmentosa 80 6.190
65
P ERL057 Early Infantile Epileptic Encephalopathy 60 6.190
66
RSP023 Rasopathy 53 6.190
67
INT084 Intrinsic Cardiomyopathy 27 6.190
68
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 6.190
69
c DVL042 Developmental and Epileptic Encephalopathy 14 50 6.190
70
c DFN269 Deafness, Autosomal Recessive 98 35 6.190
71
c VNT029 Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 34 6.190
72
c LNG045 Long Qt Syndrome 10 41 6.190
73
c MYS051 Myasthenic Syndrome, Congenital, 5 53 6.190
74
DSS008 Disease of Mental Health 74 6.190
75
P CNG001 Congenital Myasthenic Syndrome 68 6.190
76
NNN026 Noonan Syndrome with Multiple Lentigines 65 6.190
77
WLM012 Wilms Tumor Predisposition 23 6.190
78
HLX001 Helix Syndrome 48 5.107
79
c ATR087 Atrial Standstill 1 74 5.048
80
GST033 Gestational Diabetes 61 4.357
81
P EPL164 Epilepsy 68 4.170
82
HYP066 Hyperglycemia 61 3.819
83
c WLF013 Wolfram Syndrome 1 60 3.817
84
FBR019 Fibromatosis 42 3.625
85
c SHR031 Short Qt Syndrome 1 27 3.563
86
ATS010 Autosomal Recessive Disease 42 3.522
87
P GST053 Gastric Cancer 83 3.501
88
P HYP086 Hypothyroidism 69 3.372
89
c MCR130 Microvascular Complications of Diabetes 6 41 3.359
90
c MCR120 Microvascular Complications of Diabetes 7 47 3.359
91
c MCR113 Microvascular Complications of Diabetes 3 52 3.359
92
c MCR133 Microvascular Complications of Diabetes 4 41 3.359
93
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 3.273
94
HYP056 Hypoglycemia 65 3.273
95
GRW007 Growth Hormone Deficiency 46 2.957
96
HYP060 Hyperinsulinism 54 2.948
97
P SCK002 Sick Sinus Syndrome 55 2.828
99
P CLR023 Colorectal Cancer 100 2.756
100
BNG006 Benign Familial Neonatal Epilepsy 55 2.756
102
P OVR082 Overgrowth Syndrome 49 2.699
104
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 2.334
105
P HPT023 Hepatocellular Carcinoma 96 2.314
106
c ACT075 Acute Myocardial Infarction 56 2.314
107
c WLM013 Wilms Tumor 1 66 2.249
108
P SZR006 Seizure Disorder 70 2.241
109
OST159 Osteogenic Sarcoma 66 2.241
110
PPT005 Peptic Ulcer Disease 58 2.241
111
c SHR033 Short Qt Syndrome 3 28 2.085
112
c FBR084 Fibromatosis, Gingival, 1 49 2.085
113
DFC004 Deficiency Anemia 74 2.000
114
P ALP008 Alopecia 54 2.000
115
SMN007 Seminoma 42 2.000
116
GNG012 Gingival Overgrowth 49 2.000
117
IRN002 Iron Metabolism Disease 57 2.000
118
MCR017 Macrocytic Anemia 44 2.000
119
DWR001 Dwarfism 44 2.000
120
HYP014 Hyperuricemia 51 1.914
121
P BLD134 Bladder Cancer 79 1.910
122
THR099 Third-Degree Atrioventricular Block 42 1.910
123
ESP021 Esophageal Cancer 83 1.910
124
CLT003 Colitis 63 1.813
125
HLC007 Helicobacter Pylori Infection 67 1.813
126
EPL199 Epilepsy, Progressive Myoclonic, 4, with or Without Renal Failure 36 1.813
127
ULC004 Ulcerative Colitis 74 1.813
128
P GST044 Gastritis 55 1.813
129
ACR007 Acromegaly 70 1.813
130
P PLY011 Polycystic Ovary Syndrome 57 1.813
131
P INF032 Infertility 57 1.813
132
HRM003 Hormone Producing Pituitary Cancer 33 1.813
133
P DRR001 Diarrhea 55 1.813
134
GT001 Gout 64 1.782
135
c TYP008 Type 1 Diabetes Mellitus 70 1.707
136
RNL114 Renal Cell Carcinoma, Nonpapillary 80 1.707
137
P PTT014 Pitt-Hopkins Syndrome 64 1.707
138
c LNG052 Long Qt Syndrome 8 24 1.707
139
IRN001 Iron Deficiency Anemia 58 1.707
140
ART140 Arteries, Anomalies of 53 1.591
141
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 42 1.591
142
P ATR005 Atrophic Gastritis 50 1.591
143
END086 End Stage Renal Disease 52 1.591
144
TXC005 Toxic Shock Syndrome 62 1.591
145
c ACT071 Acute Kidney Failure 60 1.591
146
CHL014 Cholera 62 1.483
147
P ART022 Arthritis 71 1.458
148
P END044 Endometriosis 62 1.458
149
P CRD246 Cardiovascular System Disease 56 1.458
150
c CHR684 Chronic Kidney Disease 69 1.398
151
P PRD021 Periodic Paralysis 41 1.398
152
ISC004 Ischemia 61 1.398
153
c BRG005 Brugada Syndrome 1 54 1.357
154
P PNC035 Pancreatic Cancer 86 1.338
155
RRG078 Rare Genetic Deafness 29 1.324
156
CLP005 Ciliopathy 41 1.308
157
P SCH015 Schizophrenia 74 1.308
158
P PLM037 Pulmonary Hypertension 72 1.308
159
P NRB001 Neuroblastoma 66 1.308
160
P MYC008 Myocarditis 59 1.308
161
DNC004 Diencephalic Syndrome 36 1.308
162
P RHM011 Rheumatoid Arthritis 82 1.301
163
HMN044 Human Immunodeficiency Virus Type 1 78 1.301
164
c PRD040 Periodontitis, Chronic 52 1.301
165
CRN030 Coronary Stenosis 50 1.301
166
P PRD008 Periodontitis 64 1.301
167
c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 39 1.301
168
P FML011 Familial Adenomatous Polyposis 71 1.211
169
HRN029 Hearing Loss, Noise-Induced 37 1.211
170
FTT001 Fatty Liver Disease 62 1.211
171
P LVR013 Liver Disease 69 1.211
172
LNG099 Lung Disease 62 1.211
173
FNT004 Fainting 29 1.211
174
P THL005 Thalassemia 56 1.105
175
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 1.105
176
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 61 1.105
177
c ATR039 Atrial Fibrillation, Familial, 4 21 1.105
178
ACT119 Acute Promyelocytic Leukemia 62 1.105
179
c BRG008 Brugada Syndrome 6 32 1.105
180
GLC003 Glucose Intolerance 54 1.105
181
PRT037 Pertussis 65 1.105
182
ADN018 Adenoma 59 1.105
183
c PRC016 Pre-Eclampsia 65 1.105
184
LVR012 Liver Cirrhosis 63 1.105
185
PLM010 Pulmonary Edema 55 1.105
186
CRV035 Cervical Cancer 73 1.096
187
ANT039 Antisynthetase Syndrome 55 1.073
188
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 26 1.073
189
P EPL140 Epilepsy, Idiopathic Generalized 62 0.988
190
P PHC003 Pheochromocytoma 69 0.988
191
P SLP006 Sleep Apnea 69 0.988
192
P BRT053 Bartter Syndrome, Type 4a, Neonatal, with Sensorineural Deafness 45 0.988
193
c DPH024 Diaphragmatic Hernia, Congenital 64 0.988
194
BSM002 Bosma Arhinia Microphthalmia Syndrome 44 0.988
195
PRP001 Propionic Acidemia 65 0.988
196
JRV002 Jervell and Lange-Nielsen Syndrome 2 31 0.988
197
ADR040 Adrenal Gland Pheochromocytoma 46 0.988
198
P MSC005 Muscular Dystrophy 67 0.988
199
HRT012 Heart Valve Disease 53 0.988
200
CNN003 Conn's Syndrome 79 0.988
201
P ADL010 Adult Respiratory Distress Syndrome 71 0.988
202
c NNS007 Nonsyndromic Deafness 33 0.988
203
c BRT024 Bartter Syndrome Type 4 25 0.988
204
P OVR042 Ovarian Cancer 88 0.976
205
c HMC039 Hemochromatosis, Type 1 73 0.856
206
PTR034 Paternal Uniparental Disomy 19 0.856
207
RST023 Resting Heart Rate, Variation in 40 0.856
208
ACN002 Acanthosis Nigricans 56 0.856
209
MLG157 Malignant Pheochromocytoma 36 0.856
210
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.856
211
ERL052 Early Repolarization Associated with Ventricular Fibrillation 22 0.856
212
c ATR035 Atrial Fibrillation, Familial, 6 24 0.856
213
c SZR022 Seizures, Benign Familial Neonatal, 1 43 0.856
214
P HML002 Hemolytic Anemia 62 0.856
215
HPT022 Hepatoblastoma 54 0.856
216
P CYS018 Cystitis 59 0.856
217
SCR003 Secretory Diarrhea 35 0.856
218
GTR002 Goiter 53 0.856
219
IMP005 Impotence 52 0.856
220
P RNL007 Renal Tubular Acidosis 50 0.856
221
FCL014 Focal Epilepsy 53 0.856
222
P INT143 Interstitial Cystitis 60 0.856
223
P GLL018 Gallbladder Cancer 53 0.856
224
LPD008 Lipid Metabolism Disorder 62 0.856
225
CNV009 Convulsions Benign Familial Neonatal Dominant Form 31 0.856
226
P ATS364 Autism 69 0.759
227
TRG019 Trigonocephaly with Short Stature and Developmental Delay 38 0.759
228
P ANR048 Aniridia 1 64 0.759
229
ATH013 Atherosclerosis Susceptibility 63 0.699
230
P CRN300 Coronary Heart Disease 1 73 0.699
231
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 0.699
232
c DFN190 Deafness, Autosomal Dominant 2a 37 0.699
233
STR067 Stroke, Ischemic 80 0.699
234
END057 Endometrial Cancer 72 0.699
235
PRX015 Paroxysmal Extreme Pain Disorder 56 0.699
236
ATM095 Autoimmune Disease 61 0.699
237
P ZNC008 Zinc Finger Protein 1 23 0.699
238
UMB002 Umbilical Hernia 47 0.699
239
ACT088 Acute Insulin Response 39 0.699
240
c NTR047 Neutropenia, Severe Congenital, 1, Autosomal Dominant 37 0.699
241
c ATR026 Atrial Fibrillation, Familial, 1 21 0.699
242
c EXS020 Exostoses, Multiple, Type Ii 38 0.699
243
c LNG096 Long Qt Syndrome 15 41 0.699
244
P BCL017 B-Cell Lymphoma 59 0.699
245
P KDN018 Kidney Disease 72 0.699
246
P RRH023 Rare Hereditary Hemochromatosis 54 0.699
247
HMS001 Hemosiderosis 48 0.699
248
LWC001 Low Compliance Bladder 45 0.699
249
P VSC007 Vascular Disease 63 0.699
250
P HYP076 Hyperthyroidism 53 0.699
251
STT001 Status Epilepticus 59 0.699
252
PLC007 Placental Abruption 47 0.699
253
PTH003 Pathologic Nystagmus 52 0.699
254
P FBR031 Febrile Seizures 52 0.699
255
CNG069 Congenital Cytomegalovirus 51 0.699
256
P PRX010 Paroxysmal Ventricular Fibrillation 26 0.699
257
PRX035 Paroxysmal Dyskinesia 30 0.494
258
PRT086 Partial Hydatidiform Mole 23 0.494
259
CMP097 Complex Chromosomal Rearrangement 23 0.494
260
ANX004 Anoxia 40 0.494
261
MTC005 Mitochondrial Metabolism Disease 45 0.494
262
SDD004 Sudden Arrhythmia Death Syndrome 22 0.494
263
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 45 0.494
264
P ALZ034 Alzheimer Disease 87 0.494
265
P NSP012 Nasopharyngeal Carcinoma 61 0.494
266
PLL004 Pallister W Syndrome 28 0.494
267
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.494
268
P ALP106 Alport Syndrome 1, X-Linked 47 0.494
269
ANN002 Anencephaly 57 0.494
270
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 62 0.494
271
c PLM164 Pulmonary Hypertension, Primary, 1 76 0.494
272
MCR037 Macroglossia 44 0.494
273
OBS002 Obsessive-Compulsive Disorder 68 0.494
274
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 0.494
275
c PRG042 Progressive Familial Heart Block, Type Ia 66 0.494
276
GST092 Gastroesophageal Reflux 61 0.494
277
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.494
278
P ATX030 Ataxia-Telangiectasia 80 0.494
279
ADR016 Adrenal Cortical Carcinoma 62 0.494
280
c MCR115 Microvascular Complications of Diabetes 5 65 0.494
281
MYL009 Myelodysplastic Syndrome 67 0.494
282
HMN047 Human Cytomegalovirus Infection 57 0.494
283
P OMP004 Omphalocele 48 0.494
284
c CNG006 Congenital Hypothyroidism 63 0.494
285
LMB024 Limbic Encephalitis 43 0.494
286
LTN029 Latent Autoimmune Diabetes in Adults 38 0.494
287
CHR103 Charge Syndrome 66 0.494
288
PND002 Pendred Syndrome 57 0.494
289
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 0.494
290
NRL016 Neural Tube Defects 81 0.494
291
P CHR625 Charcot-Marie-Tooth Disease, Demyelinating, Type 1b 57 0.494
292
TRC062 Tricuspid Atresia 55 0.494
293
c PRG043 Progressive Familial Heart Block, Type Ib 54 0.494
294
c VNT010 Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 46 0.494
295
c FBR080 Fibromatosis, Gingival, 4 15 0.494
296
c HYD046 Hydatidiform Mole, Recurrent, 1 59 0.494
297
DWN001 Down Syndrome 70 0.494
298
LRN002 Laron Syndrome 63 0.494
299
P TTR001 Tetralogy of Fallot 69 0.494
300
P RTN024 Retinoblastoma 73 0.494
301
P PRS040 Prostate Cancer 95 0.494
302
DGR001 Digeorge Syndrome 62 0.494
303
c SML038 Small Cell Cancer of the Lung 69 0.494
304
c SZR023 Seizures, Benign Familial Neonatal, 2 36 0.494
305
IMM162 Immunoglobulin E Concentration, Serum 28 0.494
306
LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 72 0.494
307
HRW001 Hair Whorl 35 0.494
308
ACH004 Achondroplasia 66 0.494
309
c BRG012 Brugada Syndrome 9 30 0.494
310
TNG009 Tongue Squamous Cell Carcinoma 43 0.494
311
ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 38 0.494
312
TNG007 Tongue Carcinoma 52 0.494
313
RPD005 Rapidly Involuting Congenital Hemangioma 46 0.494
314
P RHB003 Rhabdomyosarcoma 66 0.494
315
DGN001 Degenerative Disc Disease 49 0.494
316
P WRD001 Waardenburg's Syndrome 60 0.494
317
GST010 Gestational Trophoblastic Neoplasm 52 0.494
318
P TRM003 Tremor 48 0.494
319
GLL048 Glial Tumor 52 0.494
320
47X002 47,xyy 48 0.494
321
P PRS038 Personality Disorder 65 0.494
322
HRT011 Heart Septal Defect 49 0.494
323
PNC129 Pancreatic Adenocarcinoma 65 0.494
324
P LCT001 Lactic Acidosis 51 0.494
325
P RTN016 Retinal Degeneration 52 0.494
326
P CTR002 Cataract 60 0.494
327
MCR011 Microinvasive Gastric Cancer 41 0.494
328
P LNG064 Lung Cancer Susceptibility 3 70 0.494
329
P CHR071 Charcot-Marie-Tooth Disease 64 0.494
330
TLN003 Telangiectasis 51 0.494
331
P MLN007 Male Infertility 56 0.494
332
CNS004 Constipation 56 0.494
333
c ACT027 Acute Pancreatitis 60 0.494
334
P ADN016 Adenocarcinoma 63 0.494
335
P ECL001 Eclampsia 52 0.494
336
BBN001 Bubonic Plague 40 0.494
337
TTH006 Tooth Disease 51 0.494
338
NPH010 Nephrosclerosis 50 0.494
339
BRD004 Borderline Personality Disorder 53 0.494
340
BRN024 Bronchitis 67 0.494
341
MDD010 Middle Ear Disease 46 0.494
342
c SPR009 Sporadic Breast Cancer 42 0.494
343
P TRT010 Teratoma 51 0.494
344
MDD011 Mood Disorder 62 0.494
345
P ART021 Arteriosclerosis 54 0.494
346
P TMP001 Temporal Lobe Epilepsy 49 0.494
347
PLG002 Plague 58 0.494
348
GST037 Gastroparesis 52 0.494
349
P HYP050 Hyperinsulinemic Hypoglycemia 57 0.494
350
P URT039 Urticaria 58 0.494
351
RGH001 Right Bundle Branch Block 47 0.494
352
ENT004 Enthesopathy 51 0.494
353
SQM006 Squamous Cell Carcinoma 60 0.494
354
PND005 Pendred Syndrome/nonsyndromic Enlarged Vestibular Aqueduct 14 0.494
355
P EPS003 Episodic Ataxia 59 0.494
356
DRG003 Drug Dependence 46 0.494
357
MST020 Mast Cell Activation Syndrome 28 0.494
358
P ENC018 Encephalopathy 62 0.494
359
DFN001 Dfna2 Nonsyndromic Hearing Loss 12 0.494
360
P MTC069 Mitochondrial Disorders 57 0.494
361
P SCK005 Sickle Cell Disease 56 0.494
362
48X005 48,xyyy 39 0.494
363
P CHR345 Chronic Pain 50 0.494
364
CYT002 Cytokine Deficiency 43 0.494
365
P ADT009 Auditory Neuropathy Spectrum Disorder 34 0.494
366
c ATS494 Autosomal Recessive Distal Renal Tubular Acidosis 37 0.494
367
CHR178 Chromosomal Triplication 34 0.494
368
P DST107 Distal Renal Tubular Acidosis 48 0.494
369
P ENC008 Encephalocele 46 0.494
370
MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 44 0.494
371
GLM045 Glioma 63 0.494
372
ETN001 Eating Disorder 59 0.494
373
P BRS047 Breast Cancer 98 0.482
374
P LKM062 Leukemia, Acute Lymphoblastic 69 0.482
375
CLL010 Cellular Ependymoma 57 0.482
376
P MLN008 Melanoma 76 0.482
377
c NRB010 Neuroblastoma 1 59 0.470
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