Search results for "LMNA"

103 hits were found for 'LMNA'

# Family MCID Name MIFTS Score
1
c EMR011 Emery-Dreifuss Muscular Dystrophy 2, Ad 42 22.265
2
c LMN001 Lmna-Related Dilated Cardiomyopathy 12 12.736
3
c MSC124 Muscular Dystrophy, Congenital 40 11.277
4
c CNG420 Congenital Muscular Dystrophy Due to Lmna Mutation 20 10.465
5
c CRD093 Cardiomyopathy, Dilated, 1a 27 9.474
6
LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 12 7.881
7
c LTH013 Lethal Restrictive Dermopathy, Lmna-Related 9 7.881
8
c LMN002 Lmna-Related Emery-Dreifuss Muscular Dystrophy, Autosomal 8 7.881
9
c LMN003 Lmna-Related Muscle Diseases 7 7.881
10
PRG004 Progeria 70 7.875
11
HTC002 Hutchinson-Gilford Progeria 55 6.805
12
P DLT002 Dilated Cardiomyopathy 86 6.296
13
P EMR001 Emery-Dreifuss Muscular Dystrophy 58 6.207
14
MND007 Mandibuloacral Dysplasia 66 6.117
15
P MSC005 Muscular Dystrophy 62 5.137
16
P FML012 Familial Partial Lipodystrophy 60 5.137
17
c LPD037 Lipodystrophy, Familial Partial, 2 42 5.105
18
LPD010 Lipodystrophy 57 4.536
19
c MSC112 Muscular Dystrophy, Limb-Girdle, Type 1b 29 4.340
20
c CHR526 Charcot-Marie-Tooth Disease, Type 2b1 28 4.166
21
P CHR071 Charcot-Marie-Tooth Disease 69 4.143
22
MLF002 Malouf Syndrome 36 4.119
23
P LMB006 Limb-Girdle Muscular Dystrophy 60 3.526
24
WRN001 Werner Syndrome 72 3.465
25
ATY016 Atypical Werner Syndrome 13 3.443
26
ATR057 Atrioventricular Block 51 3.392
27
P RST011 Restrictive Dermopathy, Lethal 41 3.048
28
HRT018 Heart-Hand Syndrome, Slovenian Type 23 2.975
29
c ATS259 Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 16 2.946
30
P LFT003 Left Ventricular Noncompaction 54 2.913
31
c FML058 Familial Dilated Cardiomyopathy 66 2.552
32
c FML001 Familial Atrial Fibrillation 65 2.378
33
c CNG012 Congenital Generalized Lipodystrophy 50 2.378
34
P PLG001 Pelger-Huet Anomaly 50 2.378
35
BRR012 Berardinelli-Seip Congenital Lipodystrophy 50 2.378
36
OLG010 Oligomenorrhea 42 2.378
37
OVR048 Ovarian Cystadenoma 39 2.378
38
EMR002 Emerinopathy 17 2.378
39
PRG037 Progeroid Laminopathies 5 1.733
40
FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 31 1.682
41
FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 29 1.682
42
FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 29 1.682
43
FML145 Familial Partial Lipodystrophy, Kobberling Type 26 1.682
44
ATS085 Autosomal Codominant Severe Lipodystrophic Laminopathy 8 1.682
45
LMN004 Laminopathy Type Decaudain-Vigouroux 8 1.682
46
PRG089 Progeria-Associated Arthropathy 6 1.682
47
DLT007 Dilated Cardiomyopathy with Quadriceps Myopathy 5 1.682
48
P MYP004 Myopathy 61 0.163
49
P OBS005 Obesity 98 0.123
50
P SCL016 Scleroderma 72 0.107
51
P ATR011 Atrial Fibrillation 62 0.107
52
DMN002 Dementia 65 0.087
53
P NRP001 Neuropathy 60 0.087
54
P CTR002 Cataract 58 0.087
55
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 54 0.087
56
ANM028 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 42 0.087
57
c EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 22 0.087
58
CDS001 Cadasil 81 0.062
59
INC002 Inclusion Body Myositis 80 0.062
60
CNG034 Congestive Heart Failure 77 0.062
61
P NNN008 Noonan Syndrome 1 75 0.062
62
SKN016 Skin Disease 73 0.062
63
P NRB001 Neuroblastoma 72 0.062
64
P MYS005 Myositis 71 0.062
65
P CNG401 Congenital Heart Disease 70 0.062
66
P RSP003 Respiratory Failure 68 0.062
67
P HYP061 Hypertrophic Cardiomyopathy 68 0.062
68
P FCL005 Focal Segmental Glomerulosclerosis 68 0.062
69
P PLY011 Polycystic Ovary Syndrome 67 0.062
70
VSC007 Vascular Disease 67 0.062
71
P SPN046 Spinal Muscular Atrophy 66 0.062
72
ATH003 Atherosclerosis 65 0.062
73
LRN003 Learning Disability 61 0.062
74
P SLP006 Sleep Apnea 57 0.062
75
P HYP065 Hyperaldosteronism 57 0.062
76
P CRN012 Craniometaphyseal Dysplasia 57 0.062
77
NTR003 Natural Killer Cell Leukemia 56 0.062
78
P CNG046 Congenital Fiber-Type Disproportion 56 0.062
79
P CRV039 Cervicitis 56 0.062
80
OBS061 Obstructive Sleep Apnea 56 0.062
81
ANK001 Ankylosis 55 0.062
82
TTH006 Tooth Disease 53 0.062
83
THR013 Thoracic Outlet Syndrome 52 0.062
84
P MSC003 Muscular Atrophy 51 0.062
85
END072 Endotheliitis 51 0.062
86
PRP023 Peripheral Neuropathy 51 0.062
87
P NRV007 Nervous System Disease 49 0.062
88
P MYF003 Myofibrillar Myopathy 47 0.062
89
GLM011 Glomerulosclerosis 46 0.062
90
P TRC086 Trichohepatoenteric Syndrome 1 45 0.062
91
NRN002 Neuronitis 42 0.062
92
SNL007 Senile Cataract 42 0.062
93
P HYP265 Hypotonia 41 0.062
94
P AXN001 Axonal Neuropathy 37 0.062
95
CRB009 Cerebritis 37 0.062
96
DFF001 Diffuse Cutaneous Mastocytosis 34 0.062
97
NTR005 Nutritional Deficiency Disease 31 0.062
98
c MSC115 Muscular Dystrophy, Limb-Girdle, Type 1a 30 0.062
99
ERL004 Early Yaws 28 0.062
100
c CHR538 Charcot-Marie-Tooth Disease, Type 2b2 23 0.062
101
P EMR004 Emery-Dreifuss Muscular Dystrophy, X-Linked 23 0.062
102
c MYP011 Myopathy Congenital 21 0.062
103
c EMR003 Emery-Dreifuss Muscular Dystrophy, Dominant Type 11 0.062