Search results for "[genes] FKRP"

40 hits were found for '[genes] FKRP'

# Family MCID Name MIFTS Score
1
c MSC036 Muscular Dystrophy-Dystroglycanopathy , Type C, 5 55 21.501
2
P MSC005 Muscular Dystrophy 65 18.963
3
WLK001 Walker-Warburg Syndrome 52 18.963
4
c MSC035 Muscular Dystrophy-Dystroglycanopathy , Type B, 5 44 18.963
5
MSC077 Muscle Eye Brain Disease 57 16.026
6
c MSC114 Muscular Dystrophy, Limb-Girdle, Type 2e 43 16.026
7
c MSC034 Muscular Dystrophy-Dystroglycanopathy , Type a, 5 27 16.026
8
c DLT002 Dilated Cardiomyopathy 76 14.334
9
BCK001 Becker Muscular Dystrophy 69 14.334
10
c MSC121 Muscular Dystrophy, Limb-Girdle, Type 2a 47 14.334
11
c ATS331 Autosomal Recessive Limb-Girdle Muscular Dystrophy 44 14.334
12
c MSC115 Muscular Dystrophy, Limb-Girdle, Type 1a 38 14.334
13
c MSC122 Muscular Dystrophy, Limb-Girdle, Type 2g 36 14.334
14
c ATS297 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f 30 14.334
15
P MSC002 Muscular Dystrophy-Dystroglycanopathy 28 14.334
16
ABL002 Ablepharon-Macrostomia Syndrome 57 12.414
17
c MSC124 Muscular Dystrophy, Congenital 55 12.414
18
MSC004 Muscle Tissue Disease 34 12.414
19
c ATS280 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h 31 12.414
20
c ATS298 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 27 12.414
21
c ATS247 Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 27 12.414
22
c FKR001 Fkrp-Related Muscle Diseases 23 12.414
23
CNG427 Congenital Muscular Dystrophy with Intellectual Disability 21 12.414
24
CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 20 12.414
25
CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 19 12.414
26
P ISL077 Isolated Hyperckemia 12 12.414
27
c MSC113 Muscular Dystrophy, Limb-Girdle, Type 2b 54 10.136
28
c MSC042 Muscular Dystrophy-Dystroglycanopathy , Type B, 6 46 10.136
29
c MSC123 Muscular Dystrophy, Limb-Girdle, Type 2d 43 10.136
30
c MSC119 Muscular Dystrophy, Limb-Girdle, Type 2h 41 10.136
31
c PRG106 Progressive Muscular Dystrophy 40 10.136
32
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 40 10.136
33
c MSC050 Muscular Dystrophy, Congenital, 1b 37 10.136
34
c MSC059 Muscular Dystrophy, Limb-Girdle, Type 2l 37 10.136
35
c MSC117 Muscular Dystrophy, Limb-Girdle, Type 1e 36 10.136
36
c MSC103 Muscular Dystrophy-Dystroglycanopathy , Type C, 4 36 10.136
37
c MSC049 Muscular Dystrophy, Limb-Girdle, Type Ic 36 10.136
38
c MSC063 Muscular Dystrophy, Limb-Girdle, Type 2j 35 10.136
39
CBB005 Cobblestone Lissencephaly 27 10.136
40
INT277 Intellectual Disability-Developmental Delay-Contractures Syndrome 21 10.136