Search results for lmna

196 hits were found for lmna

# Family MCID Name MIFTS Score
1
c CNG420 Congenital Muscular Dystrophy Due to Lmna Mutation 44 15.978
2
c MSC124 Muscular Dystrophy, Congenital 54 13.949
3
c CRD093 Cardiomyopathy, Dilated, 1a 58 10.550
4
c LMN001 Lmna-Related Dilated Cardiomyopathy 14 9.186
5
c LTH013 Lethal Restrictive Dermopathy, Lmna-Related 7 8.807
6
c LMN003 Lmna-Related Muscle Diseases 6 6.933
7
LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 18 6.041
8
c LMN002 Lmna-Related Emery-Dreifuss Muscular Dystrophy, Autosomal 6 6.041
9
HTC002 Hutchinson-Gilford Progeria 63 5.489
10
MND007 Mandibuloacral Dysplasia 51 5.154
11
P MSC005 Muscular Dystrophy 65 4.813
12
P CRD011 Cardiomyopathy 67 4.716
13
c DLT002 Dilated Cardiomyopathy 74 4.705
14
P LMB006 Limb-Girdle Muscular Dystrophy 50 4.508
15
c MSC112 Muscular Dystrophy, Limb-Girdle, Type 1b 39 4.457
16
P EMR001 Emery-Dreifuss Muscular Dystrophy 55 4.329
17
P CHR071 Charcot-Marie-Tooth Disease 67 4.235
18
P LPD010 Lipodystrophy 53 4.197
19
c EMR011 Emery-Dreifuss Muscular Dystrophy 2, Ad 35 3.996
20
c CHR526 Charcot-Marie-Tooth Disease, Type 2b1 34 3.930
21
c LPD015 Lipodystrophy, Familial Partial, Type 2 51 3.673
22
HRT018 Heart-Hand Syndrome, Slovenian Type 23 3.626
23
P FML012 Familial Partial Lipodystrophy 51 3.509
24
P RST011 Restrictive Dermopathy, Lethal 44 3.396
25
MLF002 Malouf Syndrome 41 3.383
26
TTH006 Tooth Disease 51 3.237
27
c EMR012 Emery-Dreifuss Muscular Dystrophy 3, Ar 24 3.054
28
P MYP004 Myopathy 68 3.040
29
ATY016 Atypical Werner Syndrome 32 3.026
30
WRN001 Werner Syndrome 68 2.978
31
P HRT032 Heart Disease 75 2.922
32
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 56 2.900
33
P LFT003 Left Ventricular Noncompaction 52 2.900
34
ATR057 Atrioventricular Block 49 2.900
35
c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 35 2.900
36
GLC003 Glucose Intolerance 54 2.876
37
CLC006 Calcinosis 49 2.876
38
c CNG012 Congenital Generalized Lipodystrophy 43 2.876
39
c CHR532 Charcot-Marie-Tooth Disease, Type 2e 53 2.528
40
c CHR520 Charcot-Marie-Tooth Disease, Axonal, Type 2s 39 2.528
41
P CNG046 Congenital Fiber-Type Disproportion 49 2.518
42
P AXN001 Axonal Neuropathy 36 2.518
43
P HYP117 Hypertriglyceridemia 61 2.491
44
c XRD018 Xeroderma Pigmentosum, Group a 59 2.491
45
ACN002 Acanthosis Nigricans 56 2.491
46
P PLG001 Pelger-Huet Anomaly 46 2.491
47
OVR048 Ovarian Cystadenoma 28 2.491
48
P SCK002 Sick Sinus Syndrome 50 2.066
49
MSC039 Muscular Dystrophy, Congenital Merosin-Deficient 45 2.066
50
PRX014 Proximal Spinal Muscular Atrophy 39 2.066
51
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80 2.033
52
SKN016 Skin Disease 64 2.033
53
HJD001 Hajdu-Cheney Syndrome 61 2.033
54
P HLL001 Hallermann-Streiff Syndrome 55 2.033
55
ALP008 Alopecia 54 2.033
56
c VNT013 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 53 2.033
57
c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 53 2.033
58
RYN003 Reynolds Syndrome 51 2.033
59
P BTH005 Bethlem Myopathy 1 46 2.033
60
c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 46 2.033
61
P ULL002 Ullrich Congenital Muscular Dystrophy 1 46 2.033
62
c HRD088 Hereditary Neuropathies 39 2.033
63
c LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 39 2.033
64
INT084 Intrinsic Cardiomyopathy 35 2.033
65
PRX075 Proximal Myopathy and Ophthalmoplegia 33 2.033
66
MDN002 Median Neuropathy 29 2.033
67
SCN049 Second-Degree Atrioventricular Block 26 2.033
68
c CRD069 Cardiomyopathy, Dilated, 1h 24 2.033
69
ULN002 Ulnar Nerve Lesion 19 2.033
70
EMR002 Emerinopathy 17 2.033
71
RSS002 Roussy-Levy Syndrome 53 1.690
72
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 41 1.625
73
c CRD099 Cardiomyopathy, Dilated, 1e 53 1.586
74
c SCN022 Scn5a-Related Dilated Cardiomyopathy 25 1.586
75
c MYH009 Myh7-Related Dilated Cardiomyopathy 25 1.586
76
SCN020 Scn5a-Associated Dilated Cardiomyopathy 21 1.586
77
ATR060 Atrial Standstill, Digenic 43 1.565
78
PRG037 Progeroid Laminopathies 8 1.513
79
c LPD040 Lipodystrophy, Familial Partial, Type 1 27 1.480
80
FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 24 1.480
81
FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 23 1.480
82
FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 23 1.480
83
ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 5 1.480
84
PRG089 Progeria-Associated Arthropathy 4 1.480
85
DLT007 Dilated Cardiomyopathy with Quadriceps Myopathy 3 1.480
86
c FNC027 Fanconi Anemia, Complementation Group a 71 1.438
87
ATS009 Autosomal Genetic Disease 38 1.438
88
MSC004 Muscle Tissue Disease 37 1.438
89
P OBS005 Obesity 91 0.102
90
P ATR011 Atrial Fibrillation 65 0.102
91
P CTR002 Cataract 57 0.072
92
P NRP001 Neuropathy 57 0.072
93
SDD007 Sudden Cardiac Death 45 0.072
94
ARR035 Arrhythmogenic Right Ventricular Dysplasia 9 40 0.072
95
HV1006 Hiv-1 80 0.051
96
P NRB001 Neuroblastoma 71 0.051
97
P NRV007 Nervous System Disease 70 0.051
98
P LGH007 Leigh Syndrome 69 0.051
99
VSC007 Vascular Disease 65 0.051
100
OBS061 Obstructive Sleep Apnea 65 0.051
101
ATH003 Atherosclerosis 65 0.051
102
INC002 Inclusion Body Myositis 63 0.051
103
P PLY011 Polycystic Ovary Syndrome 63 0.051
104
P SPN046 Spinal Muscular Atrophy 63 0.051
105
P SLP006 Sleep Apnea 60 0.051
106
P PNC044 Pancreatitis 60 0.051
107
P FCL005 Focal Segmental Glomerulosclerosis 60 0.051
108
P PND002 Pendred Syndrome 56 0.051
109
P MYS005 Myositis 56 0.051
110
P BRC006 Brachydactyly 55 0.051
111
LBR030 Leber Optic Atrophy 54 0.051
112
SNS001 Sensorineural Hearing Loss 54 0.051
113
DMN002 Dementia 52 0.051
114
MTC097 Mitochondrial Complex Iv Deficiency 51 0.051
115
P HYP065 Hyperaldosteronism 50 0.051
116
c OPT055 Optic Atrophy Plus Syndrome 50 0.051
117
WLF002 Wolf-Hirschhorn Syndrome 50 0.051
118
c CNG464 Congenital Myopathy 50 0.051
119
P MSC003 Muscular Atrophy 49 0.051
120
INN002 Inner Ear Disease 48 0.051
121
P CRN012 Craniometaphyseal Dysplasia 46 0.051
122
c USH035 Usher Syndrome Type 2 45 0.051
123
P CRV039 Cervicitis 45 0.051
124
IDP024 Idiopathic Inflammatory Myopathy 45 0.051
125
DFN245 Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct 45 0.051
126
c USH033 Usher Syndrome, Type 3a 44 0.051
127
HPT074 Hepatic Adenoma, Somatic 44 0.051
128
VST004 Vestibular Disease 43 0.051
129
c USH008 Usher Syndrome, Type 1d 42 0.051
130
c DFN141 Deafness, Autosomal Recessive 12 42 0.051
131
c USH034 Usher Syndrome, Type 2d 41 0.051
132
END072 Endotheliitis 41 0.051
133
c NNS007 Nonsyndromic Deafness 41 0.051
134
c 3MT015 3-Methylglutaconic Aciduria, Type I 41 0.051
135
ADT003 Auditory System Disease 41 0.051
136
c USH007 Usher Syndrome, Type 1c 41 0.051
137
c DFN107 Deafness, Autosomal Dominant 10 41 0.051
138
c DFN197 Deafness, Autosomal Recessive 37 41 0.051
139
c DFN250 Deafness, Autosomal Recessive 2 40 0.051
140
c DFN196 Deafness, Autosomal Dominant 22 40 0.051
141
c 3MT016 3-Methylglutaconic Aciduria, Type Iii 40 0.051
142
P MYF003 Myofibrillar Myopathy 40 0.051
143
c DFN251 Deafness, Autosomal Dominant 11 39 0.051
144
c DFN203 Deafness, Autosomal Recessive 30 39 0.051
145
c 3MT014 3-Methylglutaconic Aciduria, Type V 39 0.051
146
c DFN202 Deafness, Autosomal Dominant 48 39 0.051
147
CRB009 Cerebritis 39 0.051
148
c DFN131 Deafness, Autosomal Dominant 1 38 0.051
149
c USH022 Usher Syndrome, Type 1g 38 0.051
150
P 3MT007 3-Methylglutaconic Aciduria 38 0.051
151
c DFN190 Deafness, Autosomal Dominant 2a 38 0.051
152
c DFN200 Deafness, Autosomal Dominant 17 38 0.051
153
BHR001 Behr Syndrome 38 0.051
154
c USH010 Usher Syndrome, Type 1f 37 0.051
155
c DFN124 Deafness, Autosomal Recessive 6 37 0.051
156
SNL007 Senile Cataract 37 0.051
157
P CRD132 Cardiac Conduction Defect 36 0.051
158
c DFN252 Deafness, Autosomal Recessive 24 36 0.051
159
c DFN143 Deafness, Autosomal Recessive 16 36 0.051
160
MNG006 Monogenic Diabetes 35 0.051
161
HDG001 Hodgkin's Lymphoma, Nodular Sclerosis 35 0.051
162
c DFN137 Deafness, Autosomal Dominant 13 35 0.051
163
P ADT004 Auditory Neuropathy 35 0.051
164
c DFN093 Deafness, Autosomal Recessive 23 34 0.051
165
c DFN095 Deafness, Autosomal Recessive 25 34 0.051
166
c DFN114 Deafness, Autosomal Recessive 67 34 0.051
167
c DFN133 Deafness, Autosomal Recessive 9 34 0.051
168
3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 33 0.051
169
c 3MT019 3-Methylglutaconic Aciduria, Type Iv 33 0.051
170
c DFN136 Deafness, Autosomal Dominant 9 33 0.051
171
c DFN128 Deafness, Autosomal Dominant 36 33 0.051
172
c DFN280 Deafness, Autosomal Recessive 32 0.051
173
c ATS005 Autosomal Dominant Nonsyndromic Deafness 31 0.051
174
c CHR538 Charcot-Marie-Tooth Disease, Type 2b2 31 0.051
175
c ATS336 Autosomal Recessive Nonsyndromic Deafness 3 31 0.051
176
c DFN269 Deafness, Autosomal Recessive 98 30 0.051
177
c DFN183 Deafness, Autosomal Recessive 83 29 0.051
178
c DFN184 Deafness, Autosomal Recessive 85 29 0.051
179
c ADT007 Auditory Neuropathy, Autosomal Dominant, 1 29 0.051
180
c DFN148 Deafness, Autosomal Dominant 16 29 0.051
181
c DFN178 Deafness, Autosomal Recessive 59 28 0.051
182
c ATS342 Autosomal Dominant Nonsyndromic Deafness 6 28 0.051
183
c ATS006 Autosomal Recessive Nonsyndromic Deafness 27 0.051
184
NNS014 Nonsyndromic Hearing Loss and Deafness 27 0.051
185
DFN038 Dfnb1 27 0.051
186
ATS251 Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna 27 0.051
187
c DFN168 Deafness, Autosomal Recessive 26 27 0.051
188
HNM002 Hinman Syndrome 27 0.051
189
c DFN150 Deafness, Autosomal Dominant 21 26 0.051
190
P EMR004 Emery-Dreifuss Muscular Dystrophy, X-Linked 24 0.051
191
ATS252 Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb 24 0.051
192
LGH012 Leigh Syndrome with Leukodystrophy 24 0.051
193
c DFN272 Deafness, Autosomal Dominant 54 22 0.051
194
c ATS338 Autosomal Recessive Nonsyndromic Deafness 8 22 0.051
195
c LGH008 Leigh-Like Syndrome 21 0.051
196
c EMR003 Emery-Dreifuss Muscular Dystrophy, Dominant Type 14 0.051
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