Search results for "[genes] POMT1"

14 hits were found for '[genes] POMT1'

# Family MCID Name MIFTS Score
1
WLK001 Walker-Warburg Syndrome 59 28.187
2
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 17 23.015
3
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 16 21.528
4
P MSC005 Muscular Dystrophy 54 19.931
5
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 17 14.094
6
BRN029 Brain Disease 49 11.507
7
MSC077 Muscle Eye Brain Disease 47 11.507
8
P MSC002 Muscular Dystrophy-Dystroglycanopathy 30 11.507
9
c ATS253 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k 12 11.507
10
WCK001 Wieacker-Wolff Syndrome 36 8.137
11
CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 20 8.137
12
CNG427 Congenital Muscular Dystrophy with Intellectual Disability 19 8.137
13
CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 17 8.137
14
c PMT001 Pomt1-Related Muscle Diseases 5 8.137