Search results for "[genes] CHAT"

27 hits were found for '[genes] CHAT'

# Family MCID Name MIFTS Score
1
P CNG001 Congenital Myasthenic Syndrome 56 18.546
2
c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 24 18.546
3
P ALZ034 Alzheimer Disease 94 15.142
4
P RTT002 Rett Syndrome 74 15.142
5
PCK002 Pick Disease 65 15.142
6
P SDD001 Sudden Infant Death Syndrome 59 15.142
7
VSC002 Vascular Dementia 58 15.142
8
CNS004 Constipation 57 15.142
9
P HNT016 Huntington Disease 71 13.114
10
P SPR098 Supranuclear Palsy, Progressive 56 13.114
11
AMN003 Amnestic Disorder 50 13.114
12
c AMY091 Amyotrophic Lateral Sclerosis 1 79 10.707
13
P PRK057 Parkinson Disease, Late-Onset 74 10.707
14
c CNT035 Central Nervous System Disease 61 10.707
15
WRN002 Wernicke-Korsakoff Syndrome 50 10.707
16
HDN002 Head Injury 47 10.707
17
RBF001 Riboflavin Deficiency 43 10.707
18
PST011 Pustulosis of Palm and Sole 42 10.707
19
TND006 Tendinosis 40 10.707
20
DYS011 Dyskinesia of Esophagus 39 10.707
21
CNG114 Congenital Myasthenic Syndrome with Episodic Apnea 18 10.707
22
P NRV007 Nervous System Disease 70 7.571
23
P MLT134 Multiple Pterygium Syndrome, Lethal Type 43 7.571
24
c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 32 7.571
25
P MYS047 Myasthenic Syndrome, Congenital, 1b, Fast-Channel 30 7.571
26
P PRS124 Presynaptic Congenital Myasthenic Syndromes 21 7.571
27
c CHT004 Chat-Related Congenital Myasthenic Syndrome 8 7.571