Search results for AARS1

29 hits were found for AARS1

# Family MCID Name MIFTS Score
1
P CHR654 Charcot-Marie-Tooth Disease, Axonal, Type 2e 61 6.111
2
c CHR351 Charcot-Marie-Tooth Disease, Axonal, Type 2n 42 4.833
3
c EPL153 Epileptic Encephalopathy, Early Infantile, 29 26 4.602
4
P CHR071 Charcot-Marie-Tooth Disease 64 4.584
5
P MYS005 Myositis 56 3.751
6
TTH006 Tooth Disease 46 3.248
7
CHR629 Charcot-Marie-Tooth Disease and Deafness 54 2.750
8
P NRP063 Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive 61 2.652
9
P MCR010 Microcephaly 58 2.652
10
CHR687 Charcot-Marie-Tooth Disease/hereditary Motor and Sensory Neuropathy 40 2.395
11
UND011 Undetermined Early-Onset Epileptic Encephalopathy 41 1.944
12
NRM005 Neuromuscular Disease 63 1.875
13
c RGD003 Rigid Spine Muscular Dystrophy 1 54 1.875
14
MSC190 Muscular Disease 51 1.875
15
c PNT036 Pontocerebellar Hypoplasia, Type 6 44 1.875
16
c CHR649 Charcot-Marie-Tooth Disease, Axonal, Type 2d 42 1.875
17
P PRR025 Perrault Syndrome 41 1.875
18
c USH044 Usher Syndrome, Type Iiib 40 1.875
19
c CHR371 Charcot-Marie-Tooth Disease, Dominant Intermediate C 40 1.875
20
c CHR626 Charcot-Marie-Tooth Disease, Axonal, Type 2a1 39 1.875
21
c CHR666 Charcot-Marie-Tooth Disease, Recessive Intermediate B 36 1.875
22
c CHR544 Charcot-Marie-Tooth Disease, Axonal, Type 2w 35 1.875
23
c CHR025 Charcot-Marie-Tooth Disease Intermediate Type 32 1.875
24
FCL001 Facial Dermatosis 29 1.875
25
VRT001 Vertebral Artery Occlusion 26 1.875
26
VRT002 Vertebral Artery Insufficiency 24 1.875
27
CLB019 Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 44 0.118
28
P CHR453 Charcot-Marie-Tooth Hereditary Neuropathy 45 0.083
29
P DST101 Distal Hereditary Motor Neuropathies 32 0.083
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