Search results for lmna

223 hits were found for lmna

# Family MCID Name MIFTS Score
1
MSC165 Muscular Dystrophy, Congenital, Lmna-Related 59 22.287
2
c CRD093 Cardiomyopathy, Dilated, 1a 58 11.366
3
LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 23 6.457
4
HTC003 Hutchinson-Gilford Progeria Syndrome 62 5.509
5
P DLT002 Dilated Cardiomyopathy 76 4.975
6
P MSC005 Muscular Dystrophy 66 4.820
7
P MND003 Mandibuloacral Dysplasia with Type a Lipodystrophy 42 4.736
8
c EMR018 Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant 43 4.581
9
P LMB006 Limb-Girdle Muscular Dystrophy 55 4.553
10
c MSC112 Muscular Dystrophy, Limb-Girdle, Type 1b 40 4.517
11
c EMR020 Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive 25 4.290
12
P CHR071 Charcot-Marie-Tooth Disease 67 4.269
13
CRD229 Cardiomyopathy, Dilated, with Hypergonadotropic Hypogonadism 36 4.269
14
P LPD010 Lipodystrophy 57 4.219
15
P EMR001 Emery-Dreifuss Muscular Dystrophy 53 4.090
16
c CHR650 Charcot-Marie-Tooth Disease, Axonal, Type 2b1 30 3.999
17
RST011 Restrictive Dermopathy, Lethal 45 3.744
18
AGN016 Aging 65 3.697
19
c LPD015 Lipodystrophy, Familial Partial, Type 2 55 3.691
20
HRT018 Heart-Hand Syndrome, Slovenian Type 21 3.685
21
P FML012 Familial Partial Lipodystrophy 53 3.533
22
P HRT032 Heart Disease 80 3.308
23
TTH006 Tooth Disease 54 3.272
24
P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 54 3.127
25
P MYP004 Myopathy 69 3.074
26
WRN001 Werner Syndrome 70 3.003
27
LMN001 Lmna-Related Dilated Cardiomyopathy 4 2.985
28
ATR057 Atrioventricular Block 52 2.951
29
c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 35 2.951
30
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 57 2.931
31
P LFT003 Left Ventricular Noncompaction 52 2.931
32
CLC006 Calcinosis 51 2.908
33
c CNG012 Congenital Generalized Lipodystrophy 51 2.908
34
P ACR062 Acroosteolysis 35 2.908
35
ATY016 Atypical Werner Syndrome 31 2.655
36
c ATR087 Atrial Standstill 1 59 2.606
37
CNG046 Congenital Fiber-Type Disproportion 48 2.567
38
P HYP061 Hypertrophic Cardiomyopathy 65 2.544
39
P SCK002 Sick Sinus Syndrome 53 2.544
40
P PLG001 Pelger-Huet Anomaly 48 2.544
41
P AXN001 Axonal Neuropathy 38 2.544
42
ACN002 Acanthosis Nigricans 60 2.519
43
OVR048 Ovarian Cystadenoma 31 2.519
44
c CRD069 Cardiomyopathy, Dilated, 1h 27 2.112
45
P BTH005 Bethlem Myopathy 1 52 2.087
46
P ULL002 Ullrich Congenital Muscular Dystrophy 1 52 2.087
47
c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 52 2.087
48
MSC162 Muscular Dystrophy, Congenital Merosin-Deficient, 1a 51 2.087
49
PRX014 Proximal Spinal Muscular Atrophy 42 2.087
50
MYP139 Myopathy, Proximal, and Ophthalmoplegia 38 2.087
51
EMR002 Emerinopathy 19 2.087
52
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 2.056
53
SKN016 Skin Disease 68 2.056
54
c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 63 2.056
55
P HLL001 Hallermann-Streiff Syndrome 58 2.056
56
P ALP008 Alopecia 56 2.056
57
RYN003 Reynolds Syndrome 47 2.056
58
LKD025 Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant 42 2.056
59
c HRD088 Hereditary Neuropathies 40 2.056
60
MDN002 Median Neuropathy 32 2.056
61
INT084 Intrinsic Cardiomyopathy 29 2.056
62
SCN049 Second-Degree Atrioventricular Block 29 2.056
63
PRL015 Prolapse of Female Genital Organ 21 2.056
64
ULN002 Ulnar Nerve Lesion 19 2.056
65
PLV002 Pelvic Muscle Wasting 6 2.056
66
RSS026 Roussy-Levy Hereditary Areflexic Dystasia 53 1.689
67
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 43 1.628
68
c CRD099 Cardiomyopathy, Dilated, 1e 53 1.611
69
MSC004 Muscle Tissue Disease 39 1.494
70
c LPD040 Lipodystrophy, Familial Partial, Type 1 28 1.494
71
FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 26 1.494
72
FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 25 1.494
73
FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 25 1.494
74
ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 17 1.494
75
PRG089 Progeria-Associated Arthropathy 4 1.494
76
P FNC027 Fanconi Anemia, Complementation Group a 78 1.454
77
ATS009 Autosomal Genetic Disease 31 1.454
78
ADR023 Adrenomyodystrophy 33 0.165
79
c CRD233 Cardiomyopathy, Dilated, 1b 51 0.126
80
c MSC050 Muscular Dystrophy, Congenital, 1b 45 0.126
81
BDY004 Body Mass Index Quantitative Trait Locus 11 75 0.095
82
P ATR011 Atrial Fibrillation 68 0.095
83
P CRD132 Cardiac Conduction Defect 53 0.095
84
BDY005 Body Mass Index Quantitative Trait Locus 9 49 0.095
85
BDY019 Body Mass Index Quantitative Trait Locus 18 48 0.095
86
BDY017 Body Mass Index Quantitative Trait Locus 14 46 0.095
87
BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.095
88
BDY010 Body Mass Index Quantitative Trait Locus 4 45 0.095
89
BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.095
90
BDY006 Body Mass Index Quantitative Trait Locus 8 42 0.095
91
BDY012 Body Mass Index Quantitative Trait Locus 7 42 0.095
92
ARR023 Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 37 0.095
93
P NRP001 Neuropathy 63 0.082
94
P CTR002 Cataract 60 0.082
95
P ANR048 Aniridia 1 68 0.067
96
P SPN046 Spinal Muscular Atrophy 63 0.067
97
P MSC003 Muscular Atrophy 55 0.067
98
P MYF003 Myofibrillar Myopathy 44 0.067
99
CRB009 Cerebritis 41 0.067
100
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 40 0.067
101
c BLD140 Blood Group, I System 37 0.067
102
ANR038 Anorexia Nervosa 1 21 0.067
103
BLD137 Blood Group--Ahonen 17 0.067
104
P NRV007 Nervous System Disease 75 0.048
105
ALP046 Alport Syndrome, X-Linked 74 0.048
106
MSC157 Muscular Dystrophy, Duchenne Type 74 0.048
107
P NRB001 Neuroblastoma 73 0.048
108
P DBT009 Diabetes Mellitus 72 0.048
109
VSC007 Vascular Disease 71 0.048
110
P RSP003 Respiratory Failure 71 0.048
111
P LYM118 Lymphoma 71 0.048
112
P EPL164 Epilepsy 70 0.048
113
P JBR020 Joubert Syndrome 1 68 0.048
114
LGH007 Leigh Syndrome 68 0.048
115
DMN002 Dementia 68 0.048
116
P HYD006 Hydrocephalus 68 0.048
117
APN008 Apnea, Obstructive Sleep 67 0.048
118
P PLY011 Polycystic Ovary Syndrome 65 0.048
119
P SLP006 Sleep Apnea 65 0.048
120
INC002 Inclusion Body Myositis 64 0.048
121
MSC152 Muscular Dystrophy, Becker Type 64 0.048
122
P PNC044 Pancreatitis 64 0.048
123
P LNG028 Long Qt Syndrome 63 0.048
124
P MYS005 Myositis 63 0.048
125
HYP056 Hypoglycemia 62 0.048
126
P EHL001 Ehlers-Danlos Syndrome 61 0.048
127
P GLM007 Glomerulonephritis 61 0.048
128
NRM005 Neuromuscular Disease 60 0.048
129
P FCL005 Focal Segmental Glomerulosclerosis 60 0.048
130
RGD003 Rigid Spine Muscular Dystrophy 1 59 0.048
131
LGG001 Legg-Calve-Perthes Disease 59 0.048
132
WLK001 Walker-Warburg Syndrome 59 0.048
133
UND005 Undifferentiated Pleomorphic Sarcoma 59 0.048
134
c FCL025 Focal Segmental Glomerulosclerosis 1 59 0.048
135
P MYC008 Myocarditis 58 0.048
136
P HYP097 Hyperekplexia 57 0.048
137
P NRP054 Neuropathy, Hereditary Sensory and Autonomic, Type Iii 57 0.048
138
LKD001 Leukodystrophy 57 0.048
139
P MCR010 Microcephaly 57 0.048
140
EPD016 Epidermolysis Bullosa 57 0.048
141
WST001 West Syndrome 57 0.048
142
c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 57 0.048
143
P BRC006 Brachydactyly 57 0.048
144
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 57 0.048
145
P LRY019 Laryngitis 57 0.048
146
P CNT005 Central Nervous System Lymphoma 57 0.048
147
P SCL018 Scoliosis 56 0.048
148
P MYP006 Myopia 56 0.048
149
P MMB011 Membranous Nephropathy 55 0.048
150
c MCR113 Microvascular Complications of Diabetes 3 55 0.048
151
ABL002 Ablepharon-Macrostomia Syndrome 55 0.048
152
P SZR006 Seizure Disorder 55 0.048
153
SPR004 Supravalvular Aortic Stenosis 54 0.048
154
ART001 Arterial Tortuosity Syndrome 53 0.048
155
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 53 0.048
156
MSC033 Muscle Disorders 53 0.048
157
P EPD003 Epidermolysis Bullosa Simplex 53 0.048
158
CRD223 Cardiac Arrhythmia 52 0.048
159
RTN023 Retinitis 52 0.048
160
MSC077 Muscle Eye Brain Disease 51 0.048
161
c PRM226 Primary Central Nervous System Lymphoma 51 0.048
162
c MYP132 Myopathy, Congenital 51 0.048
163
P MYT002 Myotonic Dystrophy 50 0.048
164
P PTS002 Ptosis 50 0.048
165
IDP024 Idiopathic Inflammatory Myopathy 49 0.048
166
P CRV039 Cervicitis 49 0.048
167
c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 49 0.048
168
P SYR001 Syringomyelia 49 0.048
169
P LSS002 Lissencephaly 49 0.048
170
c PRK086 Parkinson Disease 15, Autosomal Recessive Early-Onset 49 0.048
171
CRB045 Cerebellar Hypoplasia 48 0.048
172
CHR008 Choroiditis 47 0.048
173
P JNC001 Junctional Epidermolysis Bullosa 47 0.048
174
MLL018 Miller-Dieker Lissencephaly Syndrome 47 0.048
175
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 47 0.048
176
P CRN052 Craniometaphyseal Dysplasia, Autosomal Dominant 46 0.048
177
END072 Endotheliitis 46 0.048
178
EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 46 0.048
179
MCR037 Macroglossia 44 0.048
180
DYS032 Dystrophinopathies 43 0.048
181
NRN002 Neuronitis 43 0.048
182
NRN016 Neuronal Migration Disorders 42 0.048
183
MYP091 Myopathy, Congenital, with Fiber-Type Disproportion 42 0.048
184
c MCR130 Microvascular Complications of Diabetes 6 42 0.048
185
P PNT019 Pontocerebellar Hypoplasia 41 0.048
186
SNL007 Senile Cataract 41 0.048
187
P HYP265 Hypotonia 40 0.048
188
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 40 0.048
189
TTR025 Tetraamelia Syndrome, Autosomal Recessive 40 0.048
190
MSC028 Muscular Dystrophy, Congenital, Megaconial Type 40 0.048
191
c MSC059 Muscular Dystrophy, Limb-Girdle, Type 2l 39 0.048
192
ATX038 Ataxia and Polyneuropathy, Adult-Onset 38 0.048
193
MNG006 Monogenic Diabetes 38 0.048
194
c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 38 0.048
195
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 37 0.048
196
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 36 0.048
197
c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 36 0.048
198
PLY024 Polymicrogyria 36 0.048
199
SKL003 Skeletal Muscle Cancer 35 0.048
200
c MSC108 Muscular Dystrophy-Dystroglycanopathy , Type C, 2 35 0.048
201
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 35 0.048
202
EPT021 Epithelial Recurrent Erosion Dystrophy 35 0.048
203
ART137 Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect 34 0.048
204
c MCR120 Microvascular Complications of Diabetes 7 34 0.048
205
c MCR133 Microvascular Complications of Diabetes 4 32 0.048
206
c CNG112 Congenital Muscular Dystrophy Type 1a 31 0.048
207
ALR002 Al-Raqad Syndrome 30 0.048
208
P EMR004 Emery-Dreifuss Muscular Dystrophy, X-Linked 29 0.048
209
ANR010 Aneurysm of Sinus of Valsalva 29 0.048
210
P MSC002 Muscular Dystrophy-Dystroglycanopathy 28 0.048
211
c CHR651 Charcot-Marie-Tooth Disease, Axonal, Type 2b2 28 0.048
212
SLH001 Salih Myopathy 26 0.048
213
LRY026 Laryngeal Cleft 25 0.048
214
MSC131 Muscular Dystrophy, Congenital, Producing Arthrogryposis 21 0.048
215
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 21 0.048
216
CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 20 0.048
217
CNG427 Congenital Muscular Dystrophy with Intellectual Disability 20 0.048
218
FKY002 Fukuyama Type Muscular Dystrophy 19 0.048
219
CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 18 0.048
220
c EMR003 Emery-Dreifuss Muscular Dystrophy, Dominant Type 15 0.048
221
CLL038 Collagen Vi-Related Myopathy 15 0.048
222
c INF052 Infantile Scoliosis 12 0.048
223
PRX095 Proximal Myopathy with Focal Depletion of Mitochondria 10 0.048
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