Search results for "[genes] POMT1"

15 hits were found for '[genes] POMT1'

# Family MCID Name MIFTS Score
1
P MSC005 Muscular Dystrophy 64 21.411
2
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 53 21.411
3
MSC077 Muscle Eye Brain Disease 56 16.185
4
c MSC104 Muscular Dystrophy-Dystroglycanopathy , Type C, 1 29 16.185
5
c MSC124 Muscular Dystrophy, Congenital 57 14.017
6
c MSC037 Muscular Dystrophy-Dystroglycanopathy , Type a, 4 44 14.017
7
c MSC048 Muscular Dystrophy-Dystroglycanopathy , Type B, 1 28 14.017
8
ABL002 Ablepharon-Macrostomia Syndrome 57 11.444
9
c ATS330 Autosomal Recessive Limb-Girdle Muscular Dystrophy 43 11.444
10
CBB005 Cobblestone Lissencephaly 26 11.444
11
c FKR001 Fkrp-Related Muscle Diseases 23 11.444
12
c PMT001 Pomt1-Related Muscle Diseases 6 11.444
13
CNG427 Congenital Muscular Dystrophy with Intellectual Disability 19 8.092
14
CNG426 Congenital Muscular Dystrophy with Cerebellar Involvement 18 8.092
15
CNG428 Congenital Muscular Dystrophy Without Intellectual Disability 16 8.092