Search results for lmna

648 hits were found for lmna

# Family MCID Name MIFTS Score
2
c CRD093 Cardiomyopathy, Dilated, 1a 52 12.082
5
GNR045 Generalized Lipodystrophy-Associated Progeroid Syndrome 7 6.017
6
HTC003 Hutchinson-Gilford Progeria Syndrome 65 4.857
7
c DLT002 Dilated Cardiomyopathy 79 4.565
8
c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 54 4.170
9
P MSC005 Muscular Dystrophy 66 4.088
10
P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 51 4.065
11
P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 61 3.901
12
c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 46 3.732
13
c LPD015 Lipodystrophy, Familial Partial, Type 2 62 3.709
14
P EMR001 Emery-Dreifuss Muscular Dystrophy 61 3.641
15
P CHR071 Charcot-Marie-Tooth Disease 64 3.517
16
CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 41 3.484
17
P FML012 Familial Partial Lipodystrophy 55 3.367
18
P LMB006 Limb-Girdle Muscular Dystrophy 53 3.307
19
c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 44 3.287
20
RST011 Restrictive Dermopathy, Lethal 53 3.277
21
HRT018 Heart-Hand Syndrome, Slovenian Type 23 3.205
22
P HRT032 Heart Disease 75 3.113
23
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 63 2.904
24
P LFT003 Left Ventricular Noncompaction 55 2.853
25
AGN016 Aging 56 2.833
26
TTH006 Tooth Disease 46 2.823
27
P RRC004 Rare Cardiomyopathy 44 2.766
28
P MYP004 Myopathy 64 2.715
29
CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy 40 2.709
30
c ATR087 Atrial Standstill 1 74 2.551
31
c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 31 2.509
32
LMN011 Laminopathy 33 2.494
33
CLC006 Calcinosis 48 2.480
34
WRN001 Werner Syndrome 69 2.313
35
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 2.288
36
NRM005 Neuromuscular Disease 63 2.280
37
ATR057 Atrioventricular Block 55 2.261
38
P NRP001 Neuropathy 56 2.252
39
ACR062 Acroosteolysis 35 2.252
40
P HYP061 Hypertrophic Cardiomyopathy 66 2.242
41
P ATR011 Atrial Fibrillation 66 2.208
42
P DBT009 Diabetes Mellitus 64 2.195
43
GLC003 Glucose Intolerance 54 2.195
44
P SPN046 Spinal Muscular Atrophy 64 2.181
45
HYP080 Hypogonadism 50 2.165
46
c FNC027 Fanconi Anemia, Complementation Group a 81 2.147
47
P OST002 Osteoporosis 73 2.147
48
TRT001 Teratocarcinoma 46 2.147
49
c LMB074 Limb-Girdle Muscular Dystrophy Type 1b 21 2.044
50
PRM329 Premature Aging 39 1.989
51
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 61 1.962
52
ATY016 Atypical Werner Syndrome 31 1.932
53
MNG006 Monogenic Diabetes 44 1.907
54
ACN002 Acanthosis Nigricans 60 1.898
55
CRD132 Cardiac Conduction Defect 59 1.888
56
c CRD099 Cardiomyopathy, Dilated, 1e 51 1.879
57
LPD008 Lipid Metabolism Disorder 62 1.858
58
P ALP008 Alopecia 56 1.858
59
P CTR002 Cataract 60 1.834
60
P MYF003 Myofibrillar Myopathy 48 1.822
61
P AXN001 Axonal Neuropathy 36 1.822
62
c ATS452 Autosomal Recessive Axonal Hereditary Motor and Sensory Neuropathy 18 1.822
63
P BDY004 Body Mass Index Quantitative Trait Locus 11 76 1.807
64
P LNG028 Long Qt Syndrome 65 1.807
65
INC002 Inclusion Body Myositis 64 1.807
66
CNG046 Congenital Fiber-Type Disproportion 54 1.792
67
c LPD032 Lipodystrophy, Congenital Generalized, Type 1 57 1.774
68
P RST002 Restrictive Cardiomyopathy 56 1.774
69
P SCK002 Sick Sinus Syndrome 55 1.774
70
c CNG012 Congenital Generalized Lipodystrophy 54 1.774
71
P PLG001 Pelger-Huet Anomaly 50 1.774
72
SNL007 Senile Cataract 42 1.774
73
c LPD040 Lipodystrophy, Familial Partial, Type 1 37 1.774
74
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 63 1.753
75
SKN016 Skin Disease 63 1.753
76
P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 61 1.753
77
c CRD233 Cardiomyopathy, Dilated, 1b 48 1.490
78
P PRG139 Progeroid Syndrome 26 1.476
79
P PRP019 Peripheral Nervous System Disease 57 1.392
80
ATS010 Autosomal Recessive Disease 48 1.335
81
SKN005 Skin Atrophy 43 1.306
82
P ATS426 Autosomal Dominant Distal Hereditary Motor Neuronopathy 26 1.306
83
UND005 Undifferentiated Pleomorphic Sarcoma 66 1.288
84
WDM005 Wiedemann-Rautenstrauch Syndrome 47 1.288
85
P EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 46 1.288
86
c HRD088 Hereditary Neuropathies 37 1.288
87
c FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 24 1.288
88
FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 23 1.288
89
FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 23 1.288
90
P RGD004 Rigid Spine Muscular Dystrophy 20 1.288
91
c FML001 Familial Atrial Fibrillation 66 1.267
92
WLK001 Walker-Warburg Syndrome 63 1.267
93
HLT001 Holt-Oram Syndrome 62 1.267
94
P FCS012 Facioscapulohumeral Muscular Dystrophy 1 61 1.267
95
P BTH005 Bethlem Myopathy 1 60 1.267
96
P ULL002 Ullrich Congenital Muscular Dystrophy 1 56 1.267
97
c RGD003 Rigid Spine Muscular Dystrophy 1 54 1.267
98
MSC162 Muscular Dystrophy, Congenital Merosin-Deficient, 1a 54 1.267
99
MSC190 Muscular Disease 51 1.267
100
LFT001 Left Bundle Branch Hemiblock 49 1.267
101
c MSC175 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 47 1.267
102
P ACQ022 Acquired Generalized Lipodystrophy 47 1.267
103
RYN003 Reynolds Syndrome 47 1.267
104
P PRX014 Proximal Spinal Muscular Atrophy 45 1.267
105
c MSC178 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 44 1.267
106
LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 44 1.267
107
c LPD030 Lipodystrophy, Familial Partial, Type 5 43 1.267
108
c XLN241 X-Linked Emery-Dreifuss Muscular Dystrophy 41 1.267
109
c CNG023 Congenital Fibrosarcoma 41 1.267
110
FRS012 First-Degree Atrioventricular Block 41 1.267
111
c EMR015 Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant 41 1.267
112
OST014 Osteopoikilosis 40 1.267
113
c EMR014 Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant 40 1.267
114
c EMR019 Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant 39 1.267
115
c ATS279 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 39 1.267
116
c CRD069 Cardiomyopathy, Dilated, 1h 29 1.267
117
NNN001 Nonencapsulated Sclerosing Carcinoma 26 1.267
118
MSC004 Muscle Tissue Disease 25 1.267
119
JVN060 Juvenile Idiopathic Inflammatory Myopathy 18 1.267
120
EMR002 Emerinopathy 16 1.267
121
ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 15 1.267
122
c ATS433 Autosomal Dominant Proximal Spinal Muscular Atrophy 12 1.267
123
P RTN008 Retinitis Pigmentosa 77 1.240
124
P BRG001 Brugada Syndrome 70 1.240
125
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 54 1.240
126
c LPD021 Lipodystrophy, Familial Partial, Type 3 48 1.240
127
PGM003 Pigmentation Disease 44 1.240
128
P HYP087 Hypotrichosis 42 1.240
129
P HRD018 Hair Disease 41 1.240
130
c LPD034 Lipodystrophy, Familial Partial, Type 4 41 1.240
131
DCR002 Dacryocystocele 35 1.240
132
OVR048 Ovarian Cystadenoma 32 1.240
133
VLK001 Volkmann Contracture 32 1.240
134
PDT019 Pediatric Fibrosarcoma 30 1.240
135
SNL004 Senile Ectropion 29 1.240
136
INT084 Intrinsic Cardiomyopathy 29 1.240
137
c ATS009 Autosomal Genetic Disease 27 1.240
138
CMP096 Complete Generalized Lipodystrophy 25 1.240
139
c CHR088 Chronic Inflammation of Lacrimal Passage 23 1.240
140
c AXN013 Axonal Hereditary Motor and Sensory Neuropathy 13 1.240
141
PLV002 Pelvic Muscle Wasting 10 1.240
142
ADR023 Adrenomyodystrophy 31 0.151
143
P HYP750 Hypertriglyceridemia, Familial 61 0.123
144
P FTT008 Fatty Liver Disease, Nonalcoholic 1 57 0.093
145
FTT001 Fatty Liver Disease 61 0.087
146
P MSC003 Muscular Atrophy 52 0.087
147
P SYS005 Systemic Scleroderma 70 0.081
148
P HYP265 Hypotonia 42 0.074
149
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.066
150
MSC007 Muscle Hypertrophy 63 0.066
151
CRD223 Cardiac Arrhythmia 60 0.066
152
c DWL002 Dowling-Degos Disease 1 58 0.066
153
P PLY011 Polycystic Ovary Syndrome 56 0.066
154
P ARR023 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 45 0.066
155
P RRP027 Rare Peripheral Neuropathy 19 0.066
156
c SPN225 Spondyloarthropathy 1 73 0.057
157
P ANG001 Angelman Syndrome 67 0.057
158
P VSC007 Vascular Disease 63 0.057
159
NNL005 Non-Alcoholic Fatty Liver Disease 62 0.057
160
P CNT110 Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1a 60 0.057
161
NRP051 Neuropathy, Hereditary, with Liability to Pressure Palsies 59 0.057
162
P TRC086 Trichohepatoenteric Syndrome 1 59 0.057
163
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.057
164
P MYS005 Myositis 56 0.057
165
THR013 Thoracic Outlet Syndrome 53 0.057
166
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 50 0.057
167
P ALZ034 Alzheimer Disease 88 0.047
168
P ATX030 Ataxia-Telangiectasia 83 0.047
169
P RSP003 Respiratory Failure 74 0.047
170
MSC157 Muscular Dystrophy, Duchenne Type 71 0.047
171
MYL009 Myelodysplastic Syndrome 70 0.047
172
CNG034 Congestive Heart Failure 70 0.047
173
P CRD119 Cardiac Arrest 67 0.047
174
CRP001 Carpal Tunnel Syndrome 67 0.047
175
AND002 Androgen Insensitivity Syndrome 66 0.047
176
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 66 0.047
177
ART001 Arterial Tortuosity Syndrome 66 0.047
178
LWC002 Lowe Oculocerebrorenal Syndrome 66 0.047
179
ATH013 Atherosclerosis Susceptibility 66 0.047
180
WLF001 Wolff-Parkinson-White Syndrome 65 0.047
181
P ACR001 Aicardi-Goutieres Syndrome 65 0.047
182
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.047
183
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65 0.047
184
P CRN300 Coronary Heart Disease 1 63 0.047
185
P ANR048 Aniridia 1 63 0.047
186
ANR007 Anorexia Nervosa 63 0.047
187
VNT035 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 62 0.047
188
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 61 0.047
189
NTR005 Nutritional Deficiency Disease 61 0.047
190
c PNS012 Paine Syndrome 61 0.047
191
RGH009 Right Atrial Isomerism 60 0.047
192
P SCL018 Scoliosis 60 0.047
193
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.047
194
P FCL005 Focal Segmental Glomerulosclerosis 58 0.047
195
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 0.047
196
P AXN002 Axenfeld-Rieger Syndrome 58 0.047
197
P MCR010 Microcephaly 58 0.047
198
END030 End Stage Renal Failure 58 0.047
199
P INF032 Infertility 57 0.047
200
P SHR029 Short Syndrome 57 0.047
201
P PLY019 Polyneuropathy 56 0.047
202
P ALP106 Alport Syndrome 1, X-Linked 55 0.047
203
HYP060 Hyperinsulinism 54 0.047
204
MYP139 Myopathy, Proximal, and Ophthalmoplegia 53 0.047
205
PRP080 Peripheral Artery Disease 53 0.047
206
c MYP072 Myopathy, Myofibrillar, 1 52 0.047
207
MLL018 Miller-Dieker Lissencephaly Syndrome 52 0.047
208
c ACR116 Aicardi-Goutieres Syndrome 1 51 0.047
209
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.047
210
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 50 0.047
211
RTN023 Retinitis 46 0.047
212
MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 44 0.047
213
c PRM038 Primary Agammaglobulinemia 43 0.047
214
ALK024 Alkuraya-Kucinskas Syndrome 43 0.047
215
NRR001 Neuroretinitis 43 0.047
216
c EPS039 Episodic Pain Syndrome, Familial, 1 40 0.047
217
c BRG007 Brugada Syndrome 5 39 0.047
218
ADP007 Adie Pupil 39 0.047
219
c CHR682 Chronic Bilirubin Encephalopathy 38 0.047
220
DBT020 Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans 38 0.047
221
ATX010 Ataxia Neuropathy Spectrum 38 0.047
222
HPT082 Hepatic Adenomas, Familial 37 0.047
223
CRB009 Cerebritis 36 0.047
224
SCN049 Second-Degree Atrioventricular Block 36 0.047
225
ALR002 Al-Raqad Syndrome 34 0.047
226
NRN002 Neuronitis 33 0.047
227
ACT064 Acute Necrotizing Encephalitis 32 0.047
228
c BLD140 Blood Group, I System 30 0.047
229
HNM002 Hinman Syndrome 29 0.047
230
P PRX010 Paroxysmal Ventricular Fibrillation 28 0.047
231
BLD163 Blood Group, Dombrock System 26 0.047
232
P UNP013 Uniparental Disomy of Chromosome 1 24 0.047
233
BLD137 Blood Group--Ahonen 19 0.047
234
P LNG032 Lung Cancer 97 0.033
235
P BRS047 Breast Cancer 96 0.033
236
MYL069 Myeloma, Multiple 85 0.033
237
P PNC035 Pancreatic Cancer 84 0.033
238
c HYP595 Hypertension, Essential 84 0.033
239
P GST053 Gastric Cancer 83 0.033
240
NRL016 Neural Tube Defects 82 0.033
241
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 0.033
242
P GLM040 Glioma Susceptibility 1 81 0.033
243
P RTT002 Rett Syndrome 80 0.033
244
P RHM011 Rheumatoid Arthritis 80 0.033
245
STR067 Stroke, Ischemic 80 0.033
246
P BLD134 Bladder Cancer 78 0.033
247
c CWD006 Cowden Syndrome 1 77 0.033
248
c TBR025 Tuberous Sclerosis 1 76 0.033
249
PHN003 Phenylketonuria 75 0.033
250
BRN028 Brain Cancer 73 0.033
251
P JBR020 Joubert Syndrome 1 72 0.033
252
P MLT020 Multiple Sclerosis 72 0.033
253
c HYP836 Hypercholesterolemia, Familial, 1 72 0.033
254
P EPL164 Epilepsy 71 0.033
255
P CNR004 Cone-Rod Dystrophy 2 71 0.033
256
P NRB001 Neuroblastoma 71 0.033
257
HMN044 Human Immunodeficiency Virus Type 1 71 0.033
258
c TBR026 Tuberous Sclerosis 2 71 0.033
259
P MYC007 Myocardial Infarction 70 0.033
260
P AMY004 Amyloidosis 70 0.033
261
P TBR001 Tuberous Sclerosis 70 0.033
262
LGH007 Leigh Syndrome 70 0.033
263
ADL002 Adult Syndrome 69 0.033
264
CRB039 Cerebrovascular Disease 69 0.033
265
P SLP006 Sleep Apnea 69 0.033
266
P HYP086 Hypothyroidism 68 0.033
267
P LKM062 Leukemia, Acute Lymphoblastic 68 0.033
268
P MYS003 Myasthenia Gravis 68 0.033
269
c CNG411 Congenital Disorder of Glycosylation, Type in 68 0.033
270
c FML021 Familial Hypercholesterolemia 68 0.033
271
CRB037 Cerebral Palsy 68 0.033
272
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 67 0.033
273
P MLG056 Malignant Hyperthermia 67 0.033
274
c PRG042 Progressive Familial Heart Block, Type Ia 67 0.033
275
ABT001 Abetalipoproteinemia 67 0.033
276
P LKM002 Leukemia 66 0.033
277
P CWD010 Cowden Syndrome 66 0.033
278
c NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 66 0.033
279
P DRM053 Dermatitis, Atopic 66 0.033
280
OST159 Osteogenic Sarcoma 66 0.033
281
c CHR684 Chronic Kidney Disease 66 0.033
282
ALC007 Alcohol Dependence 66 0.033
283
c MYT021 Myotonic Dystrophy 1 66 0.033
284
P MCR115 Microvascular Complications of Diabetes 5 66 0.033
285
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 66 0.033
286
HYP056 Hypoglycemia 66 0.033
287
CHR103 Charge Syndrome 66 0.033
288
P HYP098 Hypereosinophilic Syndrome 66 0.033
289
ANG054 Angina Pectoris 66 0.033
290
P NRV007 Nervous System Disease 66 0.033
291
c HRD010 Hereditary Spastic Paraplegia 66 0.033
292
P HYD006 Hydrocephalus 65 0.033
293
P CNJ013 Conjunctivitis 65 0.033
294
c HMP022 Hemophagocytic Lymphohistiocytosis, Familial, 1 65 0.033
295
P ATS364 Autism 65 0.033
296
P HRS035 Hirschsprung Disease 1 65 0.033
297
P TRN020 Turner Syndrome 65 0.033
298
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.033
299
P PRS038 Personality Disorder 65 0.033
300
BRR014 Barrett Esophagus 64 0.033
301
P RTH006 Rothmund-Thomson Syndrome, Type 2 64 0.033
302
PLL001 Pallister-Hall Syndrome 64 0.033
303
P CNG001 Congenital Myasthenic Syndrome 64 0.033
304
CLF027 Cleft Palate, Isolated 64 0.033
305
c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 64 0.033
306
IDP011 Idiopathic Interstitial Pneumonia 63 0.033
307
DGR001 Digeorge Syndrome 63 0.033
308
P CRN018 Coronary Artery Anomaly 63 0.033
309
MSC152 Muscular Dystrophy, Becker Type 63 0.033
310
P RNL100 Renal Hypodysplasia/aplasia 1 63 0.033
311
KRN002 Kearns-Sayre Syndrome 63 0.033
312
P NPH012 Nephrotic Syndrome 63 0.033
313
PPL049 Papillon-Lefevre Syndrome 63 0.033
314
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 63 0.033
315
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 62 0.033
316
CYS013 Cystinuria 62 0.033
317
P ART023 Arthropathy 62 0.033
318
LSC001 Lesch-Nyhan Syndrome 62 0.033
319
P CTS001 Cutis Laxa 62 0.033
320
P ESP024 Esophagitis 62 0.033
321
P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 62 0.033
322
P PLM036 Pulmonary Fibrosis 61 0.033
323
c ANM038 Anemia, Autoimmune Hemolytic 61 0.033
324
P DRM010 Dermatomyositis 61 0.033
325
c MSC170 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 61 0.033
326
DRM006 Dermatitis 61 0.033
327
HYP066 Hyperglycemia 61 0.033
328
c BRN108 Branchiootic Syndrome 1 61 0.033
329
CHN055 Chanarin-Dorfman Syndrome 61 0.033
330
P HYP097 Hyperekplexia 61 0.033
331
P ENC018 Encephalopathy 61 0.033
332
VRL011 Viral Infectious Disease 61 0.033
333
P PNC044 Pancreatitis 61 0.033
334
P SNS001 Sensorineural Hearing Loss 61 0.033
335
P ACH003 Achromatopsia 60 0.033
336
CHR619 Chromosome 2q35 Duplication Syndrome 60 0.033
337
P PLY169 Polycystic Liver Disease 1 with or Without Kidney Cysts 60 0.033
338
RTN017 Retinal Detachment 60 0.033
339
CHL028 Childhood Type Dermatomyositis 60 0.033
340
STF001 Stiff-Person Syndrome 60 0.033
341
PNM010 Pneumothorax, Primary Spontaneous 60 0.033
342
P PTT014 Pitt-Hopkins Syndrome 60 0.033
343
WST001 West Syndrome 60 0.033
344
P SLP005 Sleep Disorder 59 0.033
345
P MYC008 Myocarditis 59 0.033
346
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 59 0.033
347
END081 Endosteal Hyperostosis, Autosomal Dominant 59 0.033
348
P LKD001 Leukodystrophy 59 0.033
349
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 59 0.033
350
c LPM012 Lipomatosis, Multiple 59 0.033
351
LGG001 Legg-Calve-Perthes Disease 58 0.033
352
P SZR006 Seizure Disorder 58 0.033
353
c ALZ056 Alzheimer Disease 3 58 0.033
354
P CNT004 Centronuclear Myopathy 58 0.033
355
P DST002 Distal Arthrogryposis 58 0.033
356
SPR004 Supravalvular Aortic Stenosis 58 0.033
357
VSL002 Visual Epilepsy 58 0.033
358
P PTY003 Pityriasis Rubra Pilaris 58 0.033
359
P CND004 Candidiasis 57 0.033
360
ERY003 Erythema Multiforme 57 0.033
361
c HYP292 Hypophosphatasia, Infantile 57 0.033
362
HST017 Histiocytosis-Lymphadenopathy Plus Syndrome 57 0.033
363
P PLY041 Polymyositis 57 0.033
364
P BNC003 Bone Cancer 57 0.033
365
GST033 Gestational Diabetes 57 0.033
366
P EHL001 Ehlers-Danlos Syndrome 57 0.033
367
DSS008 Disease of Mental Health 57 0.033
368
LNN001 Lennox-Gastaut Syndrome 57 0.033
369
P DRR001 Diarrhea 57 0.033
370
DNT005 Dentatorubral-Pallidoluysian Atrophy 57 0.033
371
P GLM007 Glomerulonephritis 57 0.033
372
P EPD003 Epidermolysis Bullosa Simplex 56 0.033
373
GYR004 Gyrate Atrophy of Choroid and Retina 56 0.033
374
P SJG008 Sjogren Syndrome 56 0.033
375
SCH014 Schistosomiasis 56 0.033
376
c GLC097 Glaucoma 3, Primary Congenital, a 56 0.033
377
P FTL069 Fetal Akinesia Deformation Sequence 1 56 0.033
378
P STR020 Strabismus 56 0.033
379
c MYS033 Miyoshi Muscular Dystrophy 1 56 0.033
380
c AML044 Amelogenesis Imperfecta, Type Ig 56 0.033
381
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56 0.033
382
PPL025 Popliteal Pterygium Syndrome 56 0.033
383
P CRD246 Cardiovascular System Disease 56 0.033
384
P MLN007 Male Infertility 56 0.033
385
CMR002 Coumarin Resistance 56 0.033
386
PNM008 Pneumothorax 56 0.033
387
ICH001 Ichthyosis Vulgaris 55 0.033
388
c FML035 Familial Hyperlipidemia 55 0.033
389
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.033
390
c MYP132 Myopathy, Congenital 55 0.033
391
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 55 0.033
392
ANS023 Anus, Imperforate 55 0.033
393
MRD002 Marden-Walker Syndrome 55 0.033
394
P MYP006 Myopia 55 0.033
395
DBT010 Diabetic Neuropathy 55 0.033
396
VGN023 Vaginitis 55 0.033
397
P LYM031 Lymphocytic Leukemia 55 0.033
398
P FNG006 Feingold Syndrome 1 55 0.033
399
c GLY011 Glycogen Storage Disease Vii 55 0.033
400
CLF004 Cleft Lip/palate 54 0.033
401
P JNC001 Junctional Epidermolysis Bullosa 54 0.033
402
FCL014 Focal Epilepsy 54 0.033
403
c ART144 Arthrogryposis, Distal, Type 1a 54 0.033
404
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 54 0.033
405
c CNT035 Central Nervous System Disease 54 0.033
406
c PST005 Posterior Uveitis 54 0.033
407
CHK001 Chikungunya 53 0.033
408
PRP016 Paraplegia 53 0.033
409
c CRD184 Ceroid Lipofuscinosis, Neuronal, 5 53 0.033
410
P EPD016 Epidermolysis Bullosa 53 0.033
411
c LSS005 Lissencephaly 1 53 0.033
412
SNS003 Sensory Peripheral Neuropathy 53 0.033
413
HYP706 Hypermobile Ehlers-Danlos Syndrome 53 0.033
414
P BRC006 Brachydactyly 53 0.033
415
LYM004 Lymphoid Interstitial Pneumonia 53 0.033
416
c SPN393 Spinal Muscular Atrophy, Type I 53 0.033
417
P MYS079 Miyoshi Muscular Dystrophy 53 0.033
418
KRT009 Keratosis 53 0.033
419
P CRB194 Cerebroretinal Microangiopathy with Calcifications and Cysts 1 53 0.033
420
CLF001 Cleft Lip 53 0.033
421
c MCR113 Microvascular Complications of Diabetes 3 52 0.033
422
P PTS002 Ptosis 52 0.033
423
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 52 0.033
424
ABL002 Ablepharon-Macrostomia Syndrome 52 0.033
425
c LSS006 Lissencephaly 2 52 0.033
426
c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 52 0.033
427
GTR002 Goiter 52 0.033
428
c MSC169 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 52 0.033
429
c HYP293 Hypophosphatasia, Adult 52 0.033
430
P MRN003 Marinesco-Sjogren Syndrome 52 0.033
431
ENC055 Encephalopathy, Ethylmalonic 52 0.033
432
FND002 Fundus Dystrophy 51 0.033
433
P LRY019 Laryngitis 51 0.033
434
P MTH008 Methylmalonic Acidemia 51 0.033
435
VLV011 Vulvovaginal Candidiasis 51 0.033
436
P ECL001 Eclampsia 51 0.033
437
ACT049 Acute Disseminated Encephalomyelitis 51 0.033
438
c GCH017 Gaucher Disease, Type Iii 51 0.033
439
P LSS002 Lissencephaly 51 0.033
440
LGN006 Legionnaire Disease 50 0.033
441
SPS003 Spastic Diplegia 50 0.033
442
P MMB011 Membranous Nephropathy 50 0.033
443
LMY002 Leiomyoma 50 0.033
444
CCH002 Coach Syndrome 50 0.033
445
EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 50 0.033
446
P AST007 Astrocytoma 50 0.033
447
P BRT029 Brittle Cornea Syndrome 2 50 0.033
448
MTB004 Metabolic Acidosis 50 0.033
449
c HYP699 Hyperekplexia 1 50 0.033
450
c CRD187 Cardiomyopathy, Dilated, 3b 49 0.033
451
P MTC133 Mitochondrial Myopathy 49 0.033
452
c MYP125 Myopathy, Distal, 1 49 0.033
453
P MYT002 Myotonic Dystrophy 49 0.033
454
DND001 Dandy-Walker Syndrome 49 0.033
455
ART017 Aortic Disease 49 0.033
456
P GND004 Gonadal Dysgenesis 49 0.033
457
ABN011 Abnormal Hair, Joint Laxity, and Developmental Delay 49 0.033
458
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 49 0.033
459
BHR001 Behr Syndrome 49 0.033
460
c MYP078 Myopathy, Myofibrillar, 3 49 0.033
461
LPD016 Lipoid Proteinosis of Urbach and Wiethe 49 0.033
462
NRL018 Neural Tube Defects, Folate-Sensitive 49 0.033
463
c MSC173 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 49 0.033
464
SNT005 Sinoatrial Node Disease 49 0.033
465
PLY024 Polymicrogyria 49 0.033
466
RDC002 Radiculopathy 48 0.033
467
DNT045 Dental Anomalies and Short Stature 48 0.033
468
c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 48 0.033
469
HYP043 Hyperandrogenism 48 0.033
470
P MRC003 Mercury Poisoning 48 0.033
471
c MGL009 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 48 0.033
472
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 48 0.033
473
MSC164 Muscular Dystrophy, Congenital, Due to Integrin Alpha-7 Deficiency 48 0.033
474
HLX001 Helix Syndrome 47 0.033
475
c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 47 0.033
476
c TRC091 Trichorhinophalangeal Syndrome, Type Ii 47 0.033
477
CLB002 Clubfoot 47 0.033
478
MSC077 Muscle Eye Brain Disease 47 0.033
479
c MCR120 Microvascular Complications of Diabetes 7 47 0.033
480
c MYP123 Myopathy, Centronuclear, 1 47 0.033
481
c MTR002 Mitral Valve Insufficiency 47 0.033
482
c HYD064 Hydrocephalus, Congenital, 1 47 0.033
483
c INH030 Inherited Retinal Disorder 47 0.033
484
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 47 0.033
485
P PNT019 Pontocerebellar Hypoplasia 46 0.033
486
P SYR001 Syringomyelia 46 0.033
487
c INH020 Inherited Metabolic Disorder 46 0.033
488
MCR037 Macroglossia 45 0.033
489
P CRV039 Cervicitis 45 0.033
490
SYN036 Syncope 45 0.033
491
c TRC022 Tricuspid Valve Insufficiency 45 0.033
492
MSC028 Muscular Dystrophy, Congenital, Megaconial Type 45 0.033
493
c ARR045 Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 45 0.033
494
THR099 Third-Degree Atrioventricular Block 45 0.033
495
c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 45 0.033
496
P RPP006 Rippling Muscle Disease 2 45 0.033
497
c CRD097 Cardiomyopathy, Dilated, 1d 45 0.033
498
P LPM005 Lipomatosis 45 0.033
499
c DRM054 Dermatitis, Atopic, 2 45 0.033
500
CHR008 Choroiditis 44 0.033
501
c CRT081 Cortical Dysplasia, Complex, with Other Brain Malformations 7 44 0.033
502
P ANX007 Anauxetic Dysplasia 1 44 0.033
503
P GNT008 Giant Cell Tumor 44 0.033
504
c MSC093 Muscular Dystrophy-Dystroglycanopathy , Type C, 3 44 0.033
505
c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 44 0.033
506
c EPL027 Epileptic Encephalopathy, Early Infantile, 4 44 0.033
507
FBR019 Fibromatosis 44 0.033
508
ATX038 Ataxia and Polyneuropathy, Adult-Onset 44 0.033
509
P MYG005 Myoglobinuria 43 0.033
510
TBL009 Tibial Muscular Dystrophy 43 0.033
511
c MYP131 Myopathy, Centronuclear, 2 43 0.033
512
c HYP272 Hypercholesterolemia, Familial, 3 43 0.033
513
GRW007 Growth Hormone Deficiency 43 0.033
514
c MSC172 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 42 0.033
515
MCR103 Microtia 42 0.033
516
MLK003 Melkersson-Rosenthal Syndrome 42 0.033
517
P MLT008 Multinodular Goiter 42 0.033
518
c MSC174 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 42 0.033
519
WCK001 Wieacker-Wolff Syndrome 42 0.033
520
c MSC177 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 41 0.033
521
VLV010 Vulvovaginitis 41 0.033
522
c MCR130 Microvascular Complications of Diabetes 6 41 0.033
523
c MCR133 Microvascular Complications of Diabetes 4 41 0.033
524
ISC020 Ischiocoxopodopatellar Syndrome with or Without Pulmonary Arterial Hypertension 41 0.033
525
DYS032 Dystrophinopathies 41 0.033
526
ACT088 Acute Insulin Response 41 0.033
527
MLT028 Multiminicore Disease 41 0.033
528
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.033
529
HYP064 Hypogonadotropism 40 0.033
530
SPN009 Spindle Cell Rhabdomyosarcoma 40 0.033
531
PLM030 Pleomorphic Rhabdomyosarcoma 40 0.033
532
TNP004 Tn Polyagglutination Syndrome 40 0.033
533
c MSC100 Muscular Dystrophy-Dystroglycanopathy , Type C, 9 40 0.033
534
FML304 Familial Isolated Dilated Cardiomyopathy 40 0.033
535
NRN016 Neuronal Migration Disorders 40 0.033
536
KLD004 Keloid Disorder 40 0.033
537
c ATS246 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c 39 0.033
538
c MSC171 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 39 0.033
539
c MSC098 Muscular Dystrophy-Dystroglycanopathy , Type C, 14 39 0.033
540
PLM005 Pleomorphic Lipoma 39 0.033
541
P CLD003 Cold-Induced Sweating Syndrome 39 0.033
542
48X005 48,xyyy 39 0.033
543
CRT045 Creatine Phosphokinase, Elevated Serum 39 0.033
544
c EPL026 Epileptic Encephalopathy, Early Infantile, 3 39 0.033
545
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 39 0.033
546
HYP351 Hypertrichosis Universalis Congenita, Ambras Type 39 0.033
547
DYS030 Dysferlinopathy 38 0.033
548
IDP091 Idiopathic Nephrotic Syndrome 38 0.033
549
c ATS217 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 38 0.033
550
c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 38 0.033
551
MYP056 Myopathy, X-Linked, with Postural Muscle Atrophy 38 0.033
552
c MSC111 Muscular Dystrophy-Dystroglycanopathy , Type C, 7 38 0.033
553
CRT055 Creatine Deficiency Syndromes 38 0.033
554
c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 38 0.033
555
P CRB045 Cerebellar Hypoplasia 37 0.033
556
SPS226 Spastic Paraplegia, Ataxia, and Mental Retardation 37 0.033
557
c CRD080 Cardiomyopathy, Dilated, 1g 37 0.033
558
EPT021 Epithelial Recurrent Erosion Dystrophy 37 0.033
559
SYR010 Syringomyelia, Noncommunicating Isolated 37 0.033
560
c MSC050 Muscular Dystrophy, Congenital, 1b 37 0.033
561
SPN331 Spondyloocular Syndrome 37 0.033
562
c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 37 0.033
563
NST002 Nestor-Guillermo Progeria Syndrome 37 0.033
564
c ATS277 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d 36 0.033
565
c MSC180 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 36 0.033
566
HRW001 Hair Whorl 36 0.033
567
SLH001 Salih Myopathy 36 0.033
568
MYT011 Myotonia 35 0.033
569
SCP009 Scapuloperoneal Myopathy, X-Linked Dominant 35 0.033
570
P MSC002 Muscular Dystrophy-Dystroglycanopathy 35 0.033
571
END072 Endotheliitis 35 0.033
572
ISL151 Isolated Elevated Serum Creatine Phosphokinase Levels 35 0.033
573
HYD007 Hydrophthalmos 35 0.033
574
CHR178 Chromosomal Triplication 35 0.033
575
ART127 Arthrogryposis Multiplex Congenita, Neurogenic Type 35 0.033
577
NND010 Nondisjunction 34 0.033
578
TRG019 Trigonocephaly with Short Stature and Developmental Delay 34 0.033
580
PDT021 Pediatric Osteosarcoma 34 0.033
581
c MSC184 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 34 0.033
582
CKS001 Ck Syndrome 33 0.033
583
c PRG106 Progressive Muscular Dystrophy 33 0.033
584
c EHL084 Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 33 0.033
585
P SCP010 Scapuloperoneal Myopathy 33 0.033
586
c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 32 0.033
587
CRT008 Carotid Artery Dissection 32 0.033
588
c MSC166 Muscular Dystrophy-Dystroglycanopathy , Type a, 8 32 0.033
589
c LCL022 Localized Lipodystrophy 32 0.033
590
CNG427 Congenital Muscular Dystrophy with Intellectual Disability 32 0.033
591
MYS016 Myosclerosis, Autosomal Recessive 32 0.033
592
RDC010 Reducing Body Myopathy 31 0.033
593
PCH002 Pachygyria 31 0.033
594
CBB005 Cobblestone Lissencephaly 31 0.033
595
c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 31 0.033
596
ANR010 Aneurysm of Sinus of Valsalva 31 0.033
597
c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 31 0.033
598
PLY150 Polykaryocytosis Inducer 31 0.033
599
CRB091 Cerebro-Oculo-Facio-Skeletal Syndrome 31 0.033
601
c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 30 0.033
603
MYC088 Mycobacterium Avium Complex Infections 29 0.033
604
CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 29 0.033
605
P SKL032 Skeletal Muscle Disease 29 0.033
606
MTY003 Mutyh Polyposis 29 0.033
607
c ATS207 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j 29 0.033
608
c ACQ043 Acquired Lipodystrophy 27 0.033
609
c ATS299 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g 27 0.033
610
CNV006 Conventional Leiomyosarcoma 27 0.033
611
QLT008 Qualitative or Quantitative Defects of Dysferlin 27 0.033
612
LDD006 Ledderhose Disease 27 0.033
613
APC009 Apocrine Gland Secretion, Variation in 26 0.033
614
MCR039 Macrophagic Myofasciitis 26 0.033
615
KHN002 Khan-Khan-Katsanis Syndrome 26 0.033
616
RTN005 Retinal Lattice Degeneration 26 0.033
617
CNG506 Congenital Amyoplasia 25 0.033
618
c ATS432 Autosomal Dominant Distal Myopathy 24 0.033
619
CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 24 0.033
620
ADD006 Adducted Thumbs Syndrome 24 0.033
621
MYP005 Myopathy of Extraocular Muscle 24 0.033
622
CRD235 Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 24 0.033
623
BLD165 Blood Group, Colton System 23 0.033
624
ATS309 Autosomal Dominant Leukodystrophy with Autonomic Disease 23 0.033
625
P QLT011 Qualitative or Quantitative Defects of Sarcoglycan 22 0.033
626
MSC132 Muscular Dystrophy, Congenital, with Infantile Cataract and Hypogonadism 22 0.033
627
AND005 Androgen Insensitivity Syndrome, Mild 22 0.033
628
AMY018 Amyotonia Congenita 21 0.033
630
MSC029 Muscular Dystrophy, Congenital, Merosin-Positive 21 0.033
631
P QLT041 Qualitative or Quantitative Defects of Alpha-Dystroglycan 21 0.033
632
c AML006 Amelogenesis Imperfecta Hypoplastic Type, Ig 21 0.033
633
QLT002 Qualitative or Quantitative Defects of Dystrophin 20 0.033
634
c MLG021 Malignant Sertoli-Leydig Cell Tumor 19 0.033
635
XLN215 X-Linked Congenital Generalized Hypertrichosis 19 0.033
636
c ATS333 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 19 0.033
637
c ATS332 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w 18 0.033
638
c CNG546 Congenital Muscular Dystrophy-Dystroglycanopathy Type a 17 0.033
639
MSC131 Muscular Dystrophy, Congenital, Producing Arthrogryposis 17 0.033
640
FKY002 Fukuyama Type Muscular Dystrophy 16 0.033
641
OBS524 Obsolete: Benign Exophthalmos Syndrome 15 0.033
642
FLP002 Floppy Infant Syndrome 14 0.033
643
PRX095 Proximal Myopathy with Focal Depletion of Mitochondria 14 0.033
644
GNT041 Genetic Lipodystrophy 13 0.033
645
c INF052 Infantile Scoliosis 12 0.033
648
DSR015 Disorder of Phospholipids, Sphingolipids and Fatty Acids Biosynthesis 8 0.033
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