Search results for lmna

150 hits were found for lmna

# Family MCID Name MIFTS Score
1
c CNG420 Congenital Muscular Dystrophy Due to Lmna Mutation 41 16.622
2
c MSC124 Muscular Dystrophy, Congenital 55 14.961
3
c LMN001 Lmna-Related Dilated Cardiomyopathy 15 10.916
4
c CRD093 Cardiomyopathy, Dilated, 1a 55 10.577
5
c LTH013 Lethal Restrictive Dermopathy, Lmna-Related 7 10.394
6
LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 15 7.637
7
c LMN002 Lmna-Related Emery-Dreifuss Muscular Dystrophy, Autosomal 6 7.637
8
c LMN003 Lmna-Related Muscle Diseases 5 7.637
9
MND007 Mandibuloacral Dysplasia 49 5.270
10
HTC002 Hutchinson-Gilford Progeria 57 5.187
11
PRG004 Progeria 44 5.008
12
P CRD011 Cardiomyopathy 68 4.827
13
c MSC112 Muscular Dystrophy, Limb-Girdle, Type 1b 38 4.802
14
c DLT002 Dilated Cardiomyopathy 76 4.795
15
P LMB006 Limb-Girdle Muscular Dystrophy 51 4.576
16
P MSC005 Muscular Dystrophy 65 4.545
17
c LPD037 Lipodystrophy, Familial Partial, 2 52 4.536
18
P EMR001 Emery-Dreifuss Muscular Dystrophy 55 4.401
19
c EMR011 Emery-Dreifuss Muscular Dystrophy 2, Ad 35 4.372
20
P CHR071 Charcot-Marie-Tooth Disease 67 4.320
21
P LPD010 Lipodystrophy 55 4.281
22
c CHR526 Charcot-Marie-Tooth Disease, Type 2b1 33 4.267
23
MLF002 Malouf Syndrome 41 4.034
24
P FML012 Familial Partial Lipodystrophy 52 3.879
25
c EMR012 Emery-Dreifuss Muscular Dystrophy 3, Ar 23 3.755
26
P RST011 Restrictive Dermopathy, Lethal 41 3.741
27
HRT018 Heart-Hand Syndrome, Slovenian Type 21 3.695
28
ATY016 Atypical Werner Syndrome 28 3.391
29
WRN001 Werner Syndrome 67 3.373
30
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 56 3.294
31
TTH006 Tooth Disease 52 3.294
32
P LFT003 Left Ventricular Noncompaction 50 3.294
33
ATR057 Atrioventricular Block 49 3.294
34
c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 36 3.294
35
c CNG012 Congenital Generalized Lipodystrophy 44 3.270
36
P CNG046 Congenital Fiber-Type Disproportion 50 2.951
37
P AXN001 Axonal Neuropathy 38 2.951
38
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80 2.925
39
ACN002 Acanthosis Nigricans 57 2.925
40
CLC006 Calcinosis 50 2.925
41
P PLG001 Pelger-Huet Anomaly 45 2.925
42
OVR048 Ovarian Cystadenoma 29 2.925
43
RSS002 Roussy-Levy Syndrome 50 2.758
44
ATR060 Atrial Standstill, Digenic 51 2.675
45
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 37 2.655
46
c CHR532 Charcot-Marie-Tooth Disease, Type 2e 49 2.609
47
c CHR520 Charcot-Marie-Tooth Disease, Axonal, Type 2s 36 2.609
48
PRG037 Progeroid Laminopathies 8 2.589
49
P SPN046 Spinal Muscular Atrophy 65 2.563
50
PRX014 Proximal Spinal Muscular Atrophy 36 2.563
51
FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 25 2.563
52
c LPD040 Lipodystrophy, Familial Partial, Type 1 25 2.563
53
FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 24 2.563
54
FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 24 2.563
55
LMN004 Laminopathy Type Decaudain-Vigouroux 12 2.563
56
ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 5 2.563
57
PRG089 Progeria-Associated Arthropathy 4 2.563
58
DLT007 Dilated Cardiomyopathy with Quadriceps Myopathy 3 2.563
59
SKN016 Skin Disease 66 2.533
60
HJD001 Hajdu-Cheney Syndrome 59 2.533
61
P HLL001 Hallermann-Streiff Syndrome 53 2.533
62
RYN003 Reynolds Syndrome 49 2.533
63
P BTH005 Bethlem Myopathy 1 46 2.533
64
P ULL002 Ullrich Congenital Muscular Dystrophy 1 44 2.533
65
PRX075 Proximal Myopathy and Ophthalmoplegia 41 2.533
66
SKN005 Skin Atrophy 40 2.533
67
c HRD088 Hereditary Neuropathies 40 2.533
68
INT084 Intrinsic Cardiomyopathy 34 2.533
69
MDN002 Median Neuropathy 28 2.533
70
SCN049 Second-Degree Atrioventricular Block 24 2.533
71
ULN002 Ulnar Nerve Lesion 19 2.533
72
EMR002 Emerinopathy 18 2.533
73
MNN016 Mononeuritis of Upper Limb and Mononeuritis Multiplex 12 2.533
74
MSC039 Muscular Dystrophy, Congenital Merosin-Deficient 45 2.104
75
c FNC027 Fanconi Anemia, Complementation Group a 71 2.068
76
c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 44 2.068
77
c LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 38 2.068
78
P ATR081 Atrial Standstill 37 2.068
79
ATS009 Autosomal Genetic Disease 35 2.068
80
c LPD032 Lipodystrophy, Congenital Generalized, Type 1 33 2.068
81
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 33 2.068
82
c CRD069 Cardiomyopathy, Dilated, 1h 25 2.068
83
ADR023 Adrenomyodystrophy 24 2.068
84
MNN003 Mononeuritis of Upper Limb 13 2.068
85
P MYP004 Myopathy 67 0.168
86
P OBS005 Obesity 92 0.112
87
P ATR011 Atrial Fibrillation 66 0.112
88
P NRP001 Neuropathy 59 0.079
89
P CTR002 Cataract 58 0.079
90
SDD007 Sudden Cardiac Death 47 0.079
91
c EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 26 0.079
92
SNG003 Single Ventricular Heart 22 0.079
93
P CRN178 Coronary Heart Disease 6 21 0.079
94
HV1006 Hiv-1 80 0.056
95
WLS001 Wilson Disease 72 0.056
96
P NRV007 Nervous System Disease 71 0.056
97
P NRB001 Neuroblastoma 70 0.056
98
VSC007 Vascular Disease 67 0.056
99
OBS061 Obstructive Sleep Apnea 66 0.056
100
INC002 Inclusion Body Myositis 66 0.056
101
ATH003 Atherosclerosis 65 0.056
102
DMN002 Dementia 65 0.056
103
P PLY011 Polycystic Ovary Syndrome 65 0.056
104
P SLP006 Sleep Apnea 61 0.056
105
P LYM025 Lymphedema 61 0.056
106
P FCL005 Focal Segmental Glomerulosclerosis 60 0.056
107
THL013 Thalassemia, Hispanic Gamma-Delta-Beta 60 0.056
108
P MYS005 Myositis 57 0.056
109
P BRC006 Brachydactyly 54 0.056
110
THL016 Thalassemias, Alpha- 53 0.056
111
LYS002 Lysosomal Storage Disease 52 0.056
112
HMG005 Hemoglobinopathy 52 0.056
113
P CPL006 Capillary Hemangioma 51 0.056
114
P HYP065 Hyperaldosteronism 50 0.056
115
P MSC003 Muscular Atrophy 50 0.056
116
THR013 Thoracic Outlet Syndrome 50 0.056
117
HPT074 Hepatic Adenoma, Somatic 50 0.056
118
P SCK002 Sick Sinus Syndrome 50 0.056
119
P MTH008 Methylmalonic Acidemia 49 0.056
120
c CNG464 Congenital Myopathy 49 0.056
121
ATN002 Autonomic Nervous System Disease 48 0.056
122
P CRN012 Craniometaphyseal Dysplasia 46 0.056
123
IDP024 Idiopathic Inflammatory Myopathy 46 0.056
124
P CRV039 Cervicitis 45 0.056
125
HYD012 Hydrops Fetalis 43 0.056
126
P CRD132 Cardiac Conduction Defect 43 0.056
127
P MTH033 Methylmalonic Aciduria, Vitamin B12-Responsive 42 0.056
128
END072 Endotheliitis 42 0.056
129
P MYF003 Myofibrillar Myopathy 42 0.056
130
HYD038 Hydrops Fetalis, Nonimmune 40 0.056
131
CRB009 Cerebritis 39 0.056
132
SKN018 Skin Hemangioma 39 0.056
133
HMG025 Hemoglobin H Disease, Nondeletional 39 0.056
134
ORG002 Organic Acidemia 39 0.056
135
HNZ001 Heinz Body Anemia 39 0.056
136
c MSC115 Muscular Dystrophy, Limb-Girdle, Type 1a 38 0.056
137
SNL007 Senile Cataract 37 0.056
138
ALP093 Alpha-Thalassemia/mental Retardation Syndrome, Chromosome 16-Related 37 0.056
139
c DBT048 Diabetes Mellitus, Insulin-Dependent, 11 36 0.056
140
c DBT058 Diabetes Mellitus, Insulin-Dependent, 7 35 0.056
141
c DBT054 Diabetes Mellitus, Insulin-Dependent, 24 34 0.056
142
IMM039 Immune Hydrops Fetalis 33 0.056
143
c CHR538 Charcot-Marie-Tooth Disease, Type 2b2 31 0.056
144
ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 29 0.056
145
MTH064 Methemoglobinemia, Beta-Globin Type 29 0.056
146
IMM002 Immature Cataract 27 0.056
147
P EMR004 Emery-Dreifuss Muscular Dystrophy, X-Linked 25 0.056
148
HNM002 Hinman Syndrome 25 0.056
149
ISL099 Isolated Methylmalonic Acidemia 21 0.056
150
c EMR003 Emery-Dreifuss Muscular Dystrophy, Dominant Type 14 0.056
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