185 hits were found for 'CHAT'

# ++ Fam MCID Name MIFTS Score
1
CRD002 Cri-Du-Chat Syndrome 35 15.777
2
CHT004 Chat-Related Congenital Myasthenic Syndrome 1 9.878
3
MNT003 Mental Retardation in Cri-Du-Chat Syndrome 27 6.016
4
NRN002 Neuronitis 47 4.359
5
P ALZ001 Alzheimer's Disease 93 4.159
6
P CNG001 Congenital Myasthenic Syndrome 55 3.647
7
P RTT002 Rett Syndrome 75 2.906
8
OLV001 Olivopontocerebellar Atrophy 70 2.906
9
P MLT021 Multiple System Atrophy 64 2.906
10
LWY001 Lewy Body Dementia 60 2.906
11
c CHR345 Chronic Pain 53 2.906
12
RTN003 Retinal Ischemia 52 2.906
13
HDN002 Head Injury 49 2.906
14
P LBY004 Labyrinthitis 47 2.906
15
EPC002 Epicondylitis 40 2.906
16
c CNG114 Congenital Myasthenic Syndrome with Episodic Apnea 8 2.906
17
DWN001 Down Syndrome 58 2.589
18
P AMY001 Amyotrophic Lateral Sclerosis 87 2.544
19
P PRK002 Parkinson's Disease 86 2.517
20
P HNT001 Huntington's Disease 81 2.517
21
P SCH015 Schizophrenia 69 2.517
22
PCK001 Pick's Disease 68 2.517
23
P SDD001 Sudden Infant Death Syndrome 65 2.517
24
P DMN002 Dementia 61 2.517
25
P NRB001 Neuroblastoma 60 2.517
26
ISC004 Ischemia 57 2.517
27
c LTR001 Lateral Sclerosis 52 2.517
28
MYS024 Myasthenic Syndrome, Congenital, Associated with Episodic Apnea 21 2.138
29
NRP001 Neuropathy 54 2.087
30
PLM031 Poliomyelitis 51 2.087
31
CYS001 Cystic Fibrosis 91 2.055
32
P MYC007 Myocardial Infarction 82 2.055
33
CRH001 Crohn's Disease 78 2.055
34
P BPL003 Bipolar Disorder 76 2.055
35
P MLT020 Multiple Sclerosis 75 2.055
36
P MYS003 Myasthenia Gravis 71 2.055
37
PHC003 Pheochromocytoma 71 2.055
38
LKM002 Leukemia 70 2.055
39
c DBT009 Diabetes Mellitus 68 2.055
40
CLN016 Colon Cancer 66 2.055
41
c HPT021 Hepatitis 65 2.055
42
P PRG006 Progressive Supranuclear Palsy 63 2.055
43
c THY032 Thyroiditis 61 2.055
44
HYP266 Hypoxia 60 2.055
45
BRN029 Brain Disease 60 2.055
46
P RSP003 Respiratory Failure 60 2.055
47
ANG020 Angiosarcoma 58 2.055
48
CHG001 Chagas Disease 58 2.055
49
c PNC044 Pancreatitis 58 2.055
50
ACH005 Achalasia 57 2.055
51
GNG013 Gingivitis 56 2.055
52
MTR014 Motor Neuron Disease 56 2.055
53
CHL014 Cholera 56 2.055
54
VSC002 Vascular Dementia 55 2.055
55
RTN023 Retinitis 53 2.055
56
MMR004 Memory Impairment 52 2.055
57
PSR002 Psoriasis 51 2.055
58
P ESP024 Esophagitis 51 2.055
59
P MSC003 Muscular Atrophy 51 2.055
60
END072 Endotheliitis 51 2.055
61
CNS004 Constipation 50 2.055
62
NRP002 Neuroepithelioma 49 2.055
63
NCT002 Nicotine Dependence 49 2.055
64
CRB009 Cerebritis 46 2.055
65
TND004 Tendinopathy 45 2.055
66
TXC002 Toxic Encephalopathy 45 2.055
67
TRT001 Teratocarcinoma 40 2.055
68
RBF001 Riboflavin Deficiency 38 2.055
69
TND006 Tendinosis 34 2.055
70
P PNC035 Pancreatic Cancer 82 1.453
71
P TYP009 Type 2 Diabetes Mellitus 80 1.453
72
P MLT019 Multiple Myeloma 76 1.453
73
P MLR004 Malaria 66 1.453
74
c MYL007 Myeloma 53 1.453
75
ALB002 Albinism 50 1.453
76
NRL007 Neurologic Diseases 41 1.453
77
P DST041 Distal Monosomy 3p 27 0.548
78
c DST047 Distal Monosomy 15q 16 0.504
79
c CHR220 Chromosome 1p Deletion 26 0.311
80
MNS013 Monosomy 13q34 14 0.267
81
c CHR243 Chromosome 3p Deletion 29 0.247
82
10P002 10p11.21p12.31 Microdeletion Syndrome 14 0.247
83
3Q2001 3q29 Deletion Syndrome 10 0.247
84
CHR456 Chromosome 15q25.2 Deletion 9 0.236
85
c CHR264 Chromosome 8p Deletion 20 0.225
86
JCB001 Jacobsen Syndrome 49 0.220
87
8P1001 8p11.2 Deletion Syndrome 19 0.214
88
NSY001 N Syndrome 57 0.208
89
c DST037 Distal Monosomy 9p 18 0.202
90
c CHR181 Chromosome 10p Deletion 12 0.202
91
c MNS008 Monosomy 21 22 0.189
92
c CHR459 Chromosome Xp Deletion 16 0.189
93
1P3001 1p36 Deletion Syndrome 44 0.175
94
c CHR235 Chromosome 22q Deletion 24 0.175
95
12Q001 12q15q21.1 Microdeletion Syndrome 14 0.175
96
XP1001 Xp11.3 Deletion Syndrome 11 0.175
97
ANK002 Ankylosing Spondylitis 75 0.159
98
c 3Q2003 3q29 Microdeletion Syndrome 37 0.159
99
c CHR208 Chromosome 17p Deletion 36 0.159
100
12Q002 12q14 Microdeletion Syndrome 28 0.159
101
c CHR193 Chromosome 13q Deletion 23 0.159
102
10Q001 10q22.3q23.3 Microdeletion Syndrome 19 0.159
103
c CHR255 Chromosome 6p Deletion 16 0.159
104
c CHR260 Chromosome 7p Deletion 15 0.159
105
c CHR215 Chromosome 19p Deletion 14 0.159
106
PRX013 Proximal Chromosome 18q Deletion Syndrome 11 0.159
107
5Q2001 5q22 Deletion Syndrome 11 0.159
108
CHR101 Char Syndrome 42 0.151
109
PTC001 Potocki-Shaffer Syndrome 35 0.143
110
YCH001 Y Chromosome Infertility 25 0.143
111
c OTD001 Otodental Dysplasia 15 0.143
112
c 9Q2001 9q22.3 Microdeletion 14 0.143
113
c CHR241 Chromosome 2q24 Microdeletion Syndrome 13 0.143
114
6QT001 6q Terminal Deletion 13 0.143
115
THR013 Thoracic Outlet Syndrome 53 0.123
116
c CHR253 Chromosome 5q Deletion 31 0.123
117
c CHR198 Chromosome 15q Deletion 17 0.123
118
c MNT173 Mental Retardation, Autosomal Recessive 34 12 0.123
119
P SHR029 Short Syndrome 55 0.101
120
SCN006 Secondary Syphilis 53 0.101
121
P ALV004 Alveolar Rhabdomyosarcoma 51 0.101
122
WLL001 Williams-Beuren Syndrome 46 0.101
123
P TRC085 Trichorhinophalangeal Syndrome Type Ii 40 0.101
124
6Q1001 6q16 Deletion Syndrome 24 0.101
125
c CHR271 Chromosome 9q Deletion 23 0.101
126
P DST011 Distal Chromosome 18q Deletion Syndrome 16 0.101
127
P ANG001 Angelman Syndrome 67 0.087
128
c SYN001 Syndactyly 52 0.087
129
MNN014 Mononeuritis 40 0.087
130
P HYP163 Hyperlipidemia Type 3 22 0.087
131
c TTL001 Total Internal Ophthalmoplegia 17 0.087
132
P WSK001 Wiskott-Aldrich Syndrome 76 0.071
133
AGR001 Age Related Macular Degeneration 71 0.071
134
ACN002 Acanthosis Nigricans 70 0.071
135
ART019 Aortic Valve Stenosis 64 0.071
136
SMT015 Smith Magenis Syndrome 58 0.071
137
MLL005 Miller-Dieker Syndrome 57 0.071
138
LRN003 Learning Disability 54 0.071
139
c MCR010 Microcephaly 54 0.071
140
c MNT147 Mental Retardation 51 0.071
141
ADL002 Adult Syndrome 50 0.071
142
P THR090 Thrombocythemia 1 48 0.071
143
HYP265 Hypotonia 43 0.071
144
CRB045 Cerebellar Hypoplasia 38 0.071
145
P KLF001 Kleefstra Syndrome 37 0.071
146
PHL006 Phelan-Mcdermid Syndrome 35 0.071
147
MTC014 Mitochondrial Dna Deletion Syndromes 32 0.071
148
MCR029 Micro Syndrome 31 0.071
149
c 2P2001 2p21 Microdeletion Syndrome 25 0.071
150
c 1Q2001 1q21.1 Microdeletion 18 0.071
151
MRF001 Marfan Syndrome 78 0.050
152
P HYP075 Hypertension 76 0.050
153
AND002 Androgen Insensitivity Syndrome 75 0.050
154
ULC004 Ulcerative Colitis 71 0.050
155
ACT074 Acute Lymphocytic Leukemia 69 0.050
156
P CNG026 Congenital Heart Defect 65 0.050
157
P PRT013 Portal Hypertension 65 0.050
158
P SHR002 Short Stature 64 0.050
159
WST001 West Syndrome 64 0.050
160
PSY004 Psychotic Disorder 62 0.050
161
P BRN022 Bronchiectasis 62 0.050
162
P DGR001 Digeorge Syndrome 60 0.050
163
P HYD006 Hydrocephalus 60 0.050
164
P ATS007 Autism Spectrum Disorder 59 0.050
165
P DWR001 Dwarfism 59 0.050
166
GLD001 Goldenhar Syndrome 57 0.050
167
c AXN002 Axenfeld-Rieger Syndrome 57 0.050
168
P HYP040 Hypospadias 56 0.050
169
c VNT002 Ventricular Septal Defect 54 0.050
170
EDW001 Edwards Syndrome 52 0.050
171
APR001 Apraxia 52 0.050
172
c PSD015 Pseudohypoparathyroidism 49 0.050
173
c CTR002 Cataract 48 0.050
174
ASP001 Asperger Syndrome 48 0.050
175
SKN023 Skin Tag 47 0.050
176
c ENC008 Encephalocele 47 0.050
177
INT063 Intellectual Disability 42 0.050
178
YNG002 Young Syndrome 34 0.050
179
c ATX010 Ataxia Neuropathy Spectrum 33 0.050
180
ADT004 Auditory Neuropathy 33 0.050
181
MTR001 Mature Cataract 32 0.050
182
c HRN019 Hair-an Syndrome 32 0.050
183
CNG113 Congenital Myasthenic Syndrome Associated with Acetylcholine Receptor Deficiency 25 0.050
184
P VRT007 Vertical Talus, Congenital 23 0.050
185
CHR170 Choroid Plexus Cyst 15 0.050