Search results for plec

58 hits were found for plec

# Family MCID Name MIFTS Score
1
EPD050 Epidermolysis Bullosa Simplex with Muscular Dystrophy 56 12.286
2
EPD031 Epidermolysis Bullosa Simplex, Ogna Type 41 11.778
3
c MSC183 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 36 11.523
4
EPD040 Epidermolysis Bullosa Simplex with Pyloric Atresia 41 11.226
5
EPD064 Epidermolysis Bullosa Simplex with Nail Dystrophy 25 11.218
6
P EPD003 Epidermolysis Bullosa Simplex 58 4.420
7
P EPD016 Epidermolysis Bullosa 53 4.402
8
P MSC005 Muscular Dystrophy 66 4.133
9
EPD077 Epidermolysis Bullosa Junctionalis with Pyloric Atresia 54 3.732
10
PYL012 Pyloric Atresia 30 3.659
11
P LMB006 Limb-Girdle Muscular Dystrophy 53 2.840
12
BLL006 Bullous Pemphigoid 62 2.770
13
P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 59 2.770
14
P CNG001 Congenital Myasthenic Syndrome 66 2.306
15
SKN016 Skin Disease 63 2.306
16
P JNC001 Junctional Epidermolysis Bullosa 54 2.306
17
c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 37 2.306
18
c DLT002 Dilated Cardiomyopathy 79 2.262
19
P MYP004 Myopathy 70 2.262
21
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 62 2.262
22
ALX003 Alexander Disease 59 2.262
23
P PTS002 Ptosis 53 2.262
24
c ARR045 Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 41 1.962
25
EPD025 Epidermolysis Bullosa with Pyloric Atresia 28 1.701
26
c ATS211 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q 22 1.701
27
APL023 Aplasia Cutis Congenita, Nonsyndromic 45 1.657
28
P EPD009 Epidermolysis Bullosa Dystrophica 66 1.599
29
KND001 Kindler Syndrome 64 1.599
30
WLK001 Walker-Warburg Syndrome 63 1.599
31
c PCH015 Pachyonychia Congenita 1 59 1.599
32
P EPD062 Epidermolysis Bullosa, Junctional, Non-Herlitz Type 59 1.599
33
c MYP072 Myopathy, Myofibrillar, 1 54 1.599
34
CLL003 Cellulitis 54 1.599
35
EPD061 Epidermolysis Bullosa, Junctional, Herlitz Type 51 1.599
36
c MYP078 Myopathy, Myofibrillar, 3 50 1.599
37
P MYF003 Myofibrillar Myopathy 48 1.599
38
EPD028 Epidermolysis Bullosa Simplex, Dowling-Meara Type 47 1.599
39
P FML361 Familial Woolly Hair Syndrome 46 1.599
40
c MYP079 Myopathy, Myofibrillar, 5 46 1.599
41
URT037 Urethral Stricture 43 1.599
42
EPD029 Epidermolysis Bullosa Simplex, Generalized 43 1.599
43
EPD023 Epidermolysis Bullosa Simplex with Mottled Pigmentation 42 1.599
44
c MYP082 Myopathy, Myofibrillar, 2 41 1.599
45
P BLL007 Bullous Skin Disease 41 1.599
46
VSC012 Vesiculobullous Skin Disease 38 1.599
47
ATM016 Autoimmune Disease of Skin and Connective Tissue 26 1.599
48
EPT025 Epithelial Basement Membrane Dystrophy 25 1.599
49
EPT023 Epithelial and Subepithelial Dystrophy 15 1.599
50
P ATR011 Atrial Fibrillation 66 0.098
51
P ALP008 Alopecia 54 0.098
52
ATS010 Autosomal Recessive Disease 48 0.098
53
DFF010 Diffuse Alopecia Areata 26 0.098
54
OST012 Osteoarthritis 78 0.070
55
BRN002 Bronchiolitis 59 0.070
56
TST014 Testicular Cancer 46 0.070
57
HMN002 Human Granulocytic Anaplasmosis 32 0.070
58
EPD027 Epidermolysa Bullosa Simplex with Muscular Dystrophy 11 0.070
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