Search results for "[genes] CHAT"

30 hits were found for '[genes] CHAT'

# Family MCID Name MIFTS Score
1
P CNG001 Congenital Myasthenic Syndrome 53 22.396
2
c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 28 18.286
3
P ALZ034 Alzheimer Disease 98 14.930
4
P RTT002 Rett Syndrome 79 14.930
5
PCK002 Pick Disease 61 14.930
6
P SDD001 Sudden Infant Death Syndrome 59 14.930
7
VSC002 Vascular Dementia 47 14.930
8
NRM006 Neuromuscular Junction Disease 28 14.930
9
P HNT016 Huntington Disease 78 12.930
10
MLT021 Multiple System Atrophy 63 12.930
11
P SPR098 Supranuclear Palsy, Progressive 52 12.930
12
OLV001 Olivopontocerebellar Atrophy 51 12.930
13
P NRV007 Nervous System Disease 49 12.930
14
MGC001 Megacolon 45 12.930
15
SCR011 Scrapie 35 12.930
16
AMN003 Amnestic Disorder 32 12.930
17
CNG114 Congenital Myasthenic Syndrome with Episodic Apnea 21 12.930
18
c AMY091 Amyotrophic Lateral Sclerosis 1 83 10.557
19
c PRK057 Parkinson Disease, Late-Onset 73 10.557
20
HDN002 Head Injury 38 10.557
21
RBF001 Riboflavin Deficiency 37 10.557
22
TND006 Tendinosis 32 10.557
23
TND004 Tendinopathy 31 10.557
24
PST011 Pustulosis of Palm and Sole 28 10.557
25
ALZ029 Alzheimer Disease Mitochondrial 25 10.557
26
P MLT134 Multiple Pterygium Syndrome, Lethal Type 44 7.465
27
c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 32 7.465
28
P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 29 7.465
29
P PRS124 Presynaptic Congenital Myasthenic Syndromes 17 7.465
30
c CHT004 Chat-Related Congenital Myasthenic Syndrome 8 7.465