Search results for "[genes] LMNA"

78 hits were found for '[genes] LMNA'

# Family MCID Name MIFTS Score
1
PRG004 Progeria 60 22.620
2
P EMR001 Emery-Dreifuss Muscular Dystrophy 56 22.620
3
P MSC005 Muscular Dystrophy 52 21.657
4
P LMB006 Limb-Girdle Muscular Dystrophy 52 21.657
5
c DLT002 Dilated Cardiomyopathy 73 20.649
6
P CHR071 Charcot-Marie-Tooth Disease 59 20.649
7
MND007 Mandibuloacral Dysplasia 54 20.649
8
c MSC124 Muscular Dystrophy, Congenital 50 20.649
9
c LPD037 Lipodystrophy, Familial Partial, 2 49 19.589
10
P CRD011 Cardiomyopathy 53 18.469
11
P MYP004 Myopathy 50 18.469
12
HTC002 Hutchinson-Gilford Progeria 44 18.469
13
c CRD093 Cardiomyopathy, Dilated, 1a 31 18.469
14
P LPD010 Lipodystrophy 45 17.276
15
P FML012 Familial Partial Lipodystrophy 42 17.276
16
c EMR011 Emery-Dreifuss Muscular Dystrophy 2, Ad 38 17.276
17
P CNG401 Congenital Heart Disease 68 15.995
18
c MSC112 Muscular Dystrophy, Limb-Girdle, Type 1b 32 15.995
19
MSC004 Muscle Tissue Disease 23 15.995
20
TTH006 Tooth Disease 47 14.601
21
NRM005 Neuromuscular Disease 45 14.601
22
c CHR526 Charcot-Marie-Tooth Disease, Type 2b1 29 14.601
23
HRT018 Heart-Hand Syndrome, Slovenian Type 22 14.601
24
c LMN001 Lmna-Related Dilated Cardiomyopathy 15 14.601
25
P SCL016 Scleroderma 69 13.060
26
WRN001 Werner Syndrome 61 13.060
27
CLC006 Calcinosis 42 13.060
28
ATR057 Atrioventricular Block 39 13.060
29
RST003 Restrictive Dermopathy 37 13.060
30
ATY016 Atypical Werner Syndrome 17 13.060
31
P HYP061 Hypertrophic Cardiomyopathy 56 11.310
32
ACN002 Acanthosis Nigricans 53 11.310
33
P PLG001 Pelger-Huet Anomaly 47 11.310
34
P LFT003 Left Ventricular Noncompaction 44 11.310
35
MLF002 Malouf Syndrome 39 11.310
36
P AXN001 Axonal Neuropathy 35 11.310
37
c CNG012 Congenital Generalized Lipodystrophy 33 11.310
38
c CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 28 11.310
39
INT084 Intrinsic Cardiomyopathy 27 11.310
40
OVR048 Ovarian Cystadenoma 26 11.310
41
c ATS259 Autosomal Recessive Emery-Dreifuss Muscular Dystrophy 16 11.310
42
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 84 9.235
43
P CNG046 Congenital Fiber-Type Disproportion 48 9.235
44
CLP001 Calpainopathy 48 9.235
45
P BTH005 Bethlem Myopathy 1 44 9.235
46
RYN003 Reynolds Syndrome 44 9.235
47
c FML058 Familial Dilated Cardiomyopathy 41 9.235
48
P RST011 Restrictive Dermopathy, Lethal 39 9.235
49
BRR012 Berardinelli-Seip Congenital Lipodystrophy 38 9.235
50
P PRX014 Proximal Spinal Muscular Atrophy 37 9.235
51
HST004 Histiocytoid Hemangioma 35 9.235
52
c LPD033 Lipodystrophy, Congenital Generalized, Type 2 35 9.235
53
c HRD088 Hereditary Neuropathies 34 9.235
54
VRT001 Vertebral Artery Occlusion 33 9.235
55
c CNG420 Congenital Muscular Dystrophy Due to Lmna Mutation 23 9.235
56
ULN002 Ulnar Nerve Lesion 23 9.235
57
MDN002 Median Neuropathy 19 9.235
58
c EMR012 Emery-Dreifuss Muscular Dystrophy 3, Ar 19 9.235
59
EMR002 Emerinopathy 14 9.235
60
c ATS296 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b 14 9.235
61
c FNC027 Fanconi Anemia, Complementation Group a 71 6.530
62
c CHR527 Charcot-Marie-Tooth Disease, Type 1b 52 6.530
63
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 52 6.530
64
RSS002 Roussy-Levy Syndrome 46 6.530
65
c VNT013 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1 35 6.530
66
FML213 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form 24 6.530
67
FML301 Familial Partial Lipodystrophy, Köbberling Type 23 6.530
68
FML214 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form 23 6.530
69
FML215 Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form 23 6.530
70
LMN005 Lmna-Related Cardiocutaneous Progeria Syndrome 12 6.530
71
c LTH013 Lethal Restrictive Dermopathy, Lmna-Related 8 6.530
72
c LMN002 Lmna-Related Emery-Dreifuss Muscular Dystrophy, Autosomal 7 6.530
73
ATS285 Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy 6 6.530
74
LMN004 Laminopathy Type Decaudain-Vigouroux 6 6.530
75
PRG037 Progeroid Laminopathies 6 6.530
76
c LMN003 Lmna-Related Muscle Diseases 6 6.530
77
PRG089 Progeria-Associated Arthropathy 5 6.530
78
DLT007 Dilated Cardiomyopathy with Quadriceps Myopathy 4 6.530