Search results for "[genes] LMNA"

84 hits were found for '[genes] LMNA'

# Family MCID Name MIFTS Score
1
MND007 Mandibuloacral Dysplasia 49 21.353
2
HTC002 Hutchinson-Gilford Progeria 57 20.359
3
P CRD011 Cardiomyopathy 68 19.314
4
P LMB006 Limb-Girdle Muscular Dystrophy 51 19.314
5
PRG004 Progeria 44 19.314
6
c MSC112 Muscular Dystrophy, Limb-Girdle, Type 1b 38 19.314
7
c DLT002 Dilated Cardiomyopathy 76 18.210
8
P CHR071 Charcot-Marie-Tooth Disease 67 18.210
9
P MSC005 Muscular Dystrophy 65 18.210
10
c MSC124 Muscular Dystrophy, Congenital 55 18.210
11
P EMR001 Emery-Dreifuss Muscular Dystrophy 55 18.210
12
c CRD093 Cardiomyopathy, Dilated, 1a 55 18.210
13
c LPD037 Lipodystrophy, Familial Partial, 2 52 18.210
14
c CHR526 Charcot-Marie-Tooth Disease, Type 2b1 33 18.210
15
P LPD010 Lipodystrophy 55 17.034
16
MLF002 Malouf Syndrome 41 17.034
17
c EMR011 Emery-Dreifuss Muscular Dystrophy 2, Ad 35 17.034
18
P FML012 Familial Partial Lipodystrophy 52 15.770
19
P RST011 Restrictive Dermopathy, Lethal 41 15.770
20
c EMR012 Emery-Dreifuss Muscular Dystrophy 3, Ar 23 15.770
21
HRT018 Heart-Hand Syndrome, Slovenian Type 21 15.770
22
WRN001 Werner Syndrome 67 14.396
23
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 56 14.396
24
TTH006 Tooth Disease 52 14.396
25
P LFT003 Left Ventricular Noncompaction 50 14.396
26
ATR057 Atrioventricular Block 49 14.396
27
c CNG012 Congenital Generalized Lipodystrophy 44 14.396
28
c ATS330 Autosomal Dominant Limb-Girdle Muscular Dystrophy 36 14.396
29
ATY016 Atypical Werner Syndrome 28 14.396
30
c LMN001 Lmna-Related Dilated Cardiomyopathy 15 14.396
31
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 80 12.876
32
ACN002 Acanthosis Nigricans 57 12.876
33
CLC006 Calcinosis 50 12.876
34
P CNG046 Congenital Fiber-Type Disproportion 50 12.876
35
P PLG001 Pelger-Huet Anomaly 45 12.876
36
c CNG420 Congenital Muscular Dystrophy Due to Lmna Mutation 41 12.876
37
P AXN001 Axonal Neuropathy 38 12.876
38
OVR048 Ovarian Cystadenoma 29 12.876
39
SKN016 Skin Disease 66 11.151
40
P SPN046 Spinal Muscular Atrophy 65 11.151
41
HJD001 Hajdu-Cheney Syndrome 59 11.151
42
P HLL001 Hallermann-Streiff Syndrome 53 11.151
43
ATR060 Atrial Standstill, Digenic 51 11.151
44
RSS002 Roussy-Levy Syndrome 50 11.151
45
RYN003 Reynolds Syndrome 49 11.151
46
P BTH005 Bethlem Myopathy 1 46 11.151
47
P ULL002 Ullrich Congenital Muscular Dystrophy 1 44 11.151
48
PRX075 Proximal Myopathy and Ophthalmoplegia 41 11.151
49
SKN005 Skin Atrophy 40 11.151
50
c HRD088 Hereditary Neuropathies 40 11.151
51
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 37 11.151
52
PRX014 Proximal Spinal Muscular Atrophy 36 11.151
53
INT084 Intrinsic Cardiomyopathy 34 11.151
54
MDN002 Median Neuropathy 28 11.151
55
FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 25 11.151
56
c LPD040 Lipodystrophy, Familial Partial, Type 1 25 11.151
57
SCN049 Second-Degree Atrioventricular Block 24 11.151
58
FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 24 11.151
59
FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 24 11.151
60
ULN002 Ulnar Nerve Lesion 19 11.151
61
EMR002 Emerinopathy 18 11.151
62
LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 15 11.151
63
LMN004 Laminopathy Type Decaudain-Vigouroux 12 11.151
64
MNN016 Mononeuritis of Upper Limb and Mononeuritis Multiplex 12 11.151
65
PRG037 Progeroid Laminopathies 8 11.151
66
c LTH013 Lethal Restrictive Dermopathy, Lmna-Related 7 11.151
67
c LMN002 Lmna-Related Emery-Dreifuss Muscular Dystrophy, Autosomal 6 11.151
68
ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 5 11.151
69
c LMN003 Lmna-Related Muscle Diseases 5 11.151
70
PRG089 Progeria-Associated Arthropathy 4 11.151
71
DLT007 Dilated Cardiomyopathy with Quadriceps Myopathy 3 11.151
72
c FNC027 Fanconi Anemia, Complementation Group a 71 9.105
73
c CHR532 Charcot-Marie-Tooth Disease, Type 2e 49 9.105
74
MSC039 Muscular Dystrophy, Congenital Merosin-Deficient 45 9.105
75
c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 44 9.105
76
c LKD007 Leukodystrophy, Adult-Onset, Autosomal Dominant 38 9.105
77
P ATR081 Atrial Standstill 37 9.105
78
c CHR520 Charcot-Marie-Tooth Disease, Axonal, Type 2s 36 9.105
79
ATS009 Autosomal Genetic Disease 35 9.105
80
c LPD032 Lipodystrophy, Congenital Generalized, Type 1 33 9.105
81
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 33 9.105
82
c CRD069 Cardiomyopathy, Dilated, 1h 25 9.105
83
ADR023 Adrenomyodystrophy 24 9.105
84
MNN003 Mononeuritis of Upper Limb 13 9.105