Search results for "LMNA"

104 hits were found for 'LMNA'

# Family MCID Name MIFTS Score
1
c EMR011 Emery-Dreifuss Muscular Dystrophy 2, Ad 36 22.151
2
c LMN001 Lmna-Related Dilated Cardiomyopathy 10 12.735
3
c MSC124 Muscular Dystrophy, Congenital 35 12.445
4
c CNG420 Congenital Muscular Dystrophy Due to Lmna Mutation 18 11.483
5
c CRD093 Cardiomyopathy, Dilated, 1a 23 9.426
6
LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 9 7.920
7
c LMN002 Lmna-Related Emery-Dreifuss Muscular Dystrophy, Autosomal 6 7.920
8
c LMN003 Lmna-Related Muscle Diseases 5 7.920
9
c LTH013 Lethal Restrictive Dermopathy, Lmna-Related 5 7.920
10
PRG004 Progeria 61 7.836
11
HTC002 Hutchinson-Gilford Progeria 49 6.771
12
P DLT002 Dilated Cardiomyopathy 77 6.265
13
P EMR001 Emery-Dreifuss Muscular Dystrophy 51 6.176
14
MND007 Mandibuloacral Dysplasia 57 6.086
15
P MSC005 Muscular Dystrophy 54 5.112
16
P FML012 Familial Partial Lipodystrophy 52 5.112
17
c LPD037 Lipodystrophy, Familial Partial, 2 37 5.080
18
LPD010 Lipodystrophy 49 4.514
19
c MSC112 Muscular Dystrophy, Limb-Girdle, Type 1b 25 4.318
20
c CHR526 Charcot-Marie-Tooth Disease, Type 2b1 25 4.145
21
P CHR071 Charcot-Marie-Tooth Disease 60 4.122
22
MLF002 Malouf Syndrome 32 4.098
23
P LMB006 Limb-Girdle Muscular Dystrophy 52 3.508
24
WRN001 Werner Syndrome 62 3.448
25
ATY016 Atypical Werner Syndrome 11 3.425
26
ATR057 Atrioventricular Block 44 3.375
27
P RST011 Restrictive Dermopathy, Lethal 36 3.033
28
HRT018 Heart-Hand Syndrome, Slovenian Type 20 2.960
29
c ATS259 Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 15 2.931
30
P LFT003 Left Ventricular Noncompaction 46 2.898
31
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 33 2.618
32
c FML058 Familial Dilated Cardiomyopathy 59 2.540
33
c FML001 Familial Atrial Fibrillation 58 2.366
34
P PLG001 Pelger-Huet Anomaly 43 2.366
35
BRR012 Berardinelli-Seip Congenital Lipodystrophy 43 2.366
36
c CNG012 Congenital Generalized Lipodystrophy 43 2.366
37
OLG010 Oligomenorrhea 37 2.366
38
OVR048 Ovarian Cystadenoma 34 2.366
39
EMR002 Emerinopathy 14 2.366
40
PRG037 Progeroid Laminopathies 4 1.724
41
FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 27 1.673
42
FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 25 1.673
43
FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 25 1.673
44
FML145 Familial Partial Lipodystrophy, Kobberling Type 22 1.673
45
ATS085 Autosomal Codominant Severe Lipodystrophic Laminopathy 6 1.673
46
LMN004 Laminopathy Type Decaudain-Vigouroux 6 1.673
47
PRG089 Progeria-Associated Arthropathy 4 1.673
48
DLT007 Dilated Cardiomyopathy with Quadriceps Myopathy 4 1.673
49
P MYP004 Myopathy 53 0.163
50
P OBS005 Obesity 94 0.123
51
P SCL016 Scleroderma 76 0.106
52
P ATR011 Atrial Fibrillation 62 0.106
53
DMN002 Dementia 58 0.087
54
P NRP001 Neuropathy 52 0.087
55
P CTR002 Cataract 50 0.087
56
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 47 0.087
57
ANM028 Anemia, Sideroblastic, Pyridoxine-Refractory, Autosomal Recessive 38 0.087
58
c EMR017 Emery-Dreifuss Muscular Dystrophy 1, X-Linked 18 0.087
59
CDS001 Cadasil 73 0.061
60
INC002 Inclusion Body Myositis 71 0.061
61
CNG034 Congestive Heart Failure 69 0.061
62
P NRB001 Neuroblastoma 68 0.061
63
P NNN008 Noonan Syndrome 1 66 0.061
64
SKN016 Skin Disease 64 0.061
65
P MYS005 Myositis 63 0.061
66
P CNG401 Congenital Heart Disease 62 0.061
67
P RSP003 Respiratory Failure 62 0.061
68
P PLY011 Polycystic Ovary Syndrome 59 0.061
69
P HYP061 Hypertrophic Cardiomyopathy 59 0.061
70
VSC007 Vascular Disease 59 0.061
71
P FCL005 Focal Segmental Glomerulosclerosis 58 0.061
72
P SPN046 Spinal Muscular Atrophy 57 0.061
73
ATH003 Atherosclerosis 56 0.061
74
LRN003 Learning Disability 53 0.061
75
P SLP006 Sleep Apnea 50 0.061
76
P CRN012 Craniometaphyseal Dysplasia 49 0.061
77
P HYP065 Hyperaldosteronism 49 0.061
78
P CNG046 Congenital Fiber-Type Disproportion 49 0.061
79
P CRV039 Cervicitis 49 0.061
80
NTR003 Natural Killer Cell Leukemia 49 0.061
81
OBS061 Obstructive Sleep Apnea 48 0.061
82
ANK001 Ankylosis 48 0.061
83
TTH006 Tooth Disease 46 0.061
84
THR013 Thoracic Outlet Syndrome 45 0.061
85
P MSC003 Muscular Atrophy 44 0.061
86
END072 Endotheliitis 44 0.061
87
PRP023 Peripheral Neuropathy 44 0.061
88
P NRV007 Nervous System Disease 42 0.061
89
P MYF003 Myofibrillar Myopathy 40 0.061
90
GLM011 Glomerulosclerosis 40 0.061
91
P TRC086 Trichohepatoenteric Syndrome 1 39 0.061
92
NRN002 Neuronitis 36 0.061
93
SNL007 Senile Cataract 36 0.061
94
P HYP265 Hypotonia 34 0.061
95
P AXN001 Axonal Neuropathy 32 0.061
96
CRB009 Cerebritis 33 0.061
97
DFF001 Diffuse Cutaneous Mastocytosis 29 0.061
98
NTR005 Nutritional Deficiency Disease 28 0.061
99
c MSC115 Muscular Dystrophy, Limb-Girdle, Type 1a 27 0.061
100
ERL004 Early Yaws 25 0.061
101
c CHR538 Charcot-Marie-Tooth Disease, Type 2b2 21 0.061
102
P EMR004 Emery-Dreifuss Muscular Dystrophy, X-Linked 26 0.061
103
c MYP011 Myopathy Congenital 19 0.061
104
c EMR003 Emery-Dreifuss Muscular Dystrophy, Dominant Type 16 0.061