Search results for "[genes] LMNA"

79 hits were found for '[genes] LMNA'

# Family MCID Name MIFTS Score
1
HTC002 Hutchinson-Gilford Progeria 62 23.375
2
MND007 Mandibuloacral Dysplasia 49 21.502
3
c DLT002 Dilated Cardiomyopathy 75 19.449
4
P CRD011 Cardiomyopathy 67 19.449
5
c MSC124 Muscular Dystrophy, Congenital 57 19.449
6
P LMB006 Limb-Girdle Muscular Dystrophy 50 19.449
7
P CHR071 Charcot-Marie-Tooth Disease 66 18.337
8
P MSC005 Muscular Dystrophy 64 18.337
9
P EMR001 Emery-Dreifuss Muscular Dystrophy 53 18.337
10
c LPD037 Lipodystrophy, Familial Partial, 2 51 18.337
11
c CRD093 Cardiomyopathy, Dilated, 1a 38 18.337
12
c MSC112 Muscular Dystrophy, Limb-Girdle, Type 1b 31 18.337
13
P LPD010 Lipodystrophy 52 17.152
14
c EMR011 Emery-Dreifuss Muscular Dystrophy 2, Ad 35 17.152
15
P FML012 Familial Partial Lipodystrophy 51 15.880
16
HRT018 Heart-Hand Syndrome, Slovenian Type 21 15.880
17
TTH006 Tooth Disease 52 14.497
18
MLF002 Malouf Syndrome 41 14.497
19
c CHR526 Charcot-Marie-Tooth Disease, Type 2b1 27 14.497
20
c EMR012 Emery-Dreifuss Muscular Dystrophy 3, Ar 21 14.497
21
c LMN001 Lmna-Related Dilated Cardiomyopathy 14 14.497
22
WRN001 Werner Syndrome 67 12.966
23
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 55 12.966
24
ATR057 Atrioventricular Block 49 12.966
25
CLC006 Calcinosis 49 12.966
26
P LFT003 Left Ventricular Noncompaction 49 12.966
27
c CNG012 Congenital Generalized Lipodystrophy 45 12.966
28
ATY016 Atypical Werner Syndrome 26 12.966
29
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 81 11.229
30
ACN002 Acanthosis Nigricans 57 11.229
31
P CNG046 Congenital Fiber-Type Disproportion 48 11.229
32
P PLG001 Pelger-Huet Anomaly 45 11.229
33
P RST011 Restrictive Dermopathy, Lethal 38 11.229
34
P AXN001 Axonal Neuropathy 38 11.229
35
c CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 37 11.229
36
c ATS329 Autosomal Dominant Limb-Girdle Muscular Dystrophy 35 11.229
37
OVR048 Ovarian Cystadenoma 28 11.229
38
SKN016 Skin Disease 68 9.168
39
HJD001 Hajdu-Cheney Syndrome 58 9.168
40
ALP008 Alopecia 55 9.168
41
P HLL001 Hallermann-Streiff Syndrome 53 9.168
42
c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 51 9.168
43
RYN003 Reynolds Syndrome 49 9.168
44
P BTH005 Bethlem Myopathy 1 46 9.168
45
P ULL002 Ullrich Congenital Muscular Dystrophy 1 44 9.168
46
P CHR102 Charcot-Marie-Tooth Neuropathy 43 9.168
47
SKN005 Skin Atrophy 43 9.168
48
PRX075 Proximal Myopathy and Ophthalmoplegia 43 9.168
49
c HRD088 Hereditary Neuropathies 41 9.168
50
PRX014 Proximal Spinal Muscular Atrophy 36 9.168
51
INT084 Intrinsic Cardiomyopathy 35 9.168
52
MDN002 Median Neuropathy 30 9.168
53
SCN049 Second-Degree Atrioventricular Block 22 9.168
54
ULN002 Ulnar Nerve Lesion 21 9.168
55
EMR002 Emerinopathy 16 9.168
56
c CNG420 Congenital Muscular Dystrophy Due to Lmna Mutation 14 9.168
57
MNN016 Mononeuritis of Upper Limb and Mononeuritis Multiplex 13 9.168
58
c LMN003 Lmna-Related Muscle Diseases 6 9.168
59
c FNC027 Fanconi Anemia, Complementation Group a 73 6.483
60
ATR060 Atrial Standstill, Digenic 53 6.483
61
RSS002 Roussy-Levy Syndrome 52 6.483
62
c CHR527 Charcot-Marie-Tooth Disease, Type 1b 51 6.483
63
ATS009 Autosomal Genetic Disease 39 6.483
64
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 37 6.483
65
c LPD032 Lipodystrophy, Congenital Generalized, Type 1 33 6.483
66
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 32 6.483
67
c LPD040 Lipodystrophy, Familial Partial, Type 1 25 6.483
68
ADR023 Adrenomyodystrophy 24 6.483
69
FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 24 6.483
70
FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 23 6.483
71
FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 23 6.483
72
LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 14 6.483
73
LMN004 Laminopathy Type Decaudain-Vigouroux 11 6.483
74
PRG037 Progeroid Laminopathies 8 6.483
75
c LTH013 Lethal Restrictive Dermopathy, Lmna-Related 7 6.483
76
c LMN002 Lmna-Related Emery-Dreifuss Muscular Dystrophy, Autosomal 6 6.483
77
ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 5 6.483
78
PRG089 Progeria-Associated Arthropathy 4 6.483
79
DLT007 Dilated Cardiomyopathy with Quadriceps Myopathy 3 6.483