Search results for gabrb3

220 hits were found for gabrb3

# Family MCID Name MIFTS Score
1
c EPL136 Epilepsy, Childhood Absence 5 27 48.994
2
c DVL068 Developmental and Epileptic Encephalopathy 43 24 48.811
3
P CHL002 Childhood Absence Epilepsy 63 47.580
4
c EPL200 Epilepsy, Childhood Absence 1 32 33.425
5
P ATS364 Autism 69 24.559
6
P ANG001 Angelman Syndrome 65 23.216
7
P EPL164 Epilepsy 68 22.672
8
LNN001 Lennox-Gastaut Syndrome 61 19.957
9
P PRD006 Prader-Willi Syndrome 61 18.273
10
CLF027 Cleft Palate, Isolated 64 17.176
11
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 16.135
12
c ATS007 Autism Spectrum Disorder 72 16.089
13
P SCH015 Schizophrenia 74 14.880
14
ALC007 Alcohol Dependence 66 14.049
15
DRV001 Dravet Syndrome 69 13.522
16
WST001 West Syndrome 59 13.222
17
DSS008 Disease of Mental Health 74 12.556
18
P RTT002 Rett Syndrome 79 12.187
19
P ASP001 Asperger Syndrome 48 11.546
20
P BPL003 Bipolar Disorder 56 11.497
21
PSY004 Psychotic Disorder 66 10.971
22
P PRV006 Pervasive Developmental Disorder 52 10.281
23
P DYS154 Dystonia 64 10.281
24
PST028 Post-Traumatic Stress Disorder 59 10.281
25
P JVN007 Juvenile Absence Epilepsy 47 10.046
26
P SZR006 Seizure Disorder 70 9.983
27
P ERL057 Early Infantile Epileptic Encephalopathy 60 9.328
28
P EPL140 Epilepsy, Idiopathic Generalized 62 9.261
29
P EPL198 Epilepsy, Myoclonic Juvenile 61 9.050
30
ERL001 Early Myoclonic Encephalopathy 62 9.050
31
EPL001 Epilepsy with Generalized Tonic-Clonic Seizures 40 8.190
32
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 60 7.269
33
ATY003 Atypical Autism 33 7.269
34
CHL012 Childhood Disintegrative Disease 44 7.269
35
P FRG001 Fragile X Syndrome 70 6.714
36
CHL058 Childhood Electroclinical Syndrome 24 6.714
37
ADL051 Adolescence-Adult Electroclinical Syndrome 24 6.714
38
c ERL003 Early Onset Absence Epilepsy 29 6.714
39
P ELC007 Electroclinical Syndrome 30 6.714
40
NNT041 Neonatal Period Electroclinical Syndrome 24 6.714
41
INF033 Infancy Electroclinical Syndrome 23 6.714
42
P CHR084 Chromosomal Disease 34 6.714
43
P ORF002 Orofacial Cleft 43 6.714
44
P ATS011 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 48 6.714
45
BNG009 Benign Epilepsy with Centrotemporal Spikes 60 6.714
46
P ENC018 Encephalopathy 62 5.905
47
P HYP265 Hypotonia 42 4.757
48
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 4.026
50
CLF001 Cleft Lip 53 3.678
51
PTR034 Paternal Uniparental Disomy 19 3.459
52
CLF056 Cleft Lip with or Without Cleft Palate 42 3.345
53
c EPL133 Epilepsy, Juvenile Absence 1 46 3.331
54
c ALB021 Albinism, Oculocutaneous, Type Ii 59 2.767
55
P FBR031 Febrile Seizures 52 2.692
56
c HYD046 Hydatidiform Mole, Recurrent, 1 59 2.260
57
GST010 Gestational Trophoblastic Neoplasm 52 2.260
58
P SBS003 Substance Abuse 54 2.260
59
48X005 48,xyyy 39 2.260
60
HRN003 Heroin Dependence 44 2.159
61
FTL006 Fetal Alcohol Spectrum Disorder 43 2.050
62
c MJR022 Major Affective Disorder 8 38 2.001
63
c MJR024 Major Affective Disorder 9 41 2.001
64
P NRB001 Neuroblastoma 66 2.001
65
c ORF048 Orofacial Cleft 1 30 1.932
66
c BRD016 Bardet-Biedl Syndrome 4 44 1.932
67
MYC071 Myoclonic-Atonic Epilepsy 31 1.932
69
EPL230 Epilepsy with Myoclonic-Atonic Seizures 23 1.932
70
P PNC025 Panic Disorder 52 1.800
71
c ORF014 Orofacial Cleft 5 21 1.652
72
IMM162 Immunoglobulin E Concentration, Serum 28 1.652
73
c DVL033 Developmental and Epileptic Encephalopathy 1 56 1.530
74
NNS045 Non-Specific Syndromic Intellectual Disability 42 1.475
75
c DVL070 Developmental and Epileptic Encephalopathy 45 23 1.359
76
P TMP001 Temporal Lobe Epilepsy 49 1.359
77
ISD001 Isodicentric 15 6 1.246
78
CLF004 Cleft Lip/palate 57 1.241
79
P MJR007 Major Affective Disorder 1 42 1.241
80
c DVL101 Developmental and Epileptic Encephalopathy 78 25 1.241
81
RPD005 Rapidly Involuting Congenital Hemangioma 46 1.241
82
OHT001 Ohtahara Syndrome 38 1.241
83
ESP021 Esophageal Cancer 83 1.238
84
c UNP008 Uniparental Disomy of Chromosome 15 14 1.110
85
MTR087 Maternal Uniparental Disomy 28 1.110
86
CHR590 Chromosome 15q11-Q13 Duplication Syndrome 36 1.110
87
c DVL102 Developmental and Epileptic Encephalopathy 79 23 1.110
88
P MCR010 Microcephaly 60 1.110
89
IQS001 Iqsec2 18 1.110
90
SQM013 Squamous Cell Carcinoma, Head and Neck 73 0.961
91
NND010 Nondisjunction 34 0.961
92
RNL114 Renal Cell Carcinoma, Nonpapillary 80 0.961
93
P TRM003 Tremor 48 0.961
94
ORF053 Orofacial Clefting Syndrome 31 0.961
95
c BPL002 Bipolar I Disorder 47 0.961
96
SQM006 Squamous Cell Carcinoma 60 0.961
97
P MYC033 Myoclonus 47 0.961
98
P THL005 Thalassemia 56 0.785
99
P OVR082 Overgrowth Syndrome 49 0.785
100
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 0.785
101
c LSS005 Lissencephaly 1 57 0.785
102
ANX010 Anxiety 70 0.785
103
c MGR028 Migraine with or Without Aura 1 64 0.785
104
c BTT014 Beta-Thalassemia 72 0.785
105
P FTL001 Fetal Alcohol Syndrome 55 0.785
106
c DVL066 Developmental and Epileptic Encephalopathy 41 25 0.785
107
c DVL067 Developmental and Epileptic Encephalopathy 42 31 0.785
108
VLC001 Velocardiofacial Syndrome 57 0.785
109
c DVL078 Developmental and Epileptic Encephalopathy 54 27 0.785
110
ANT039 Antisynthetase Syndrome 55 0.785
111
SCH012 Schizoaffective Disorder 50 0.785
112
ACT084 Acute Stress Disorder 54 0.785
113
CLN015 Colon Adenocarcinoma 65 0.785
114
P ADN016 Adenocarcinoma 63 0.785
115
P TBR001 Tuberous Sclerosis 69 0.785
116
P TRT010 Teratoma 51 0.785
117
P TCD001 Tic Disorder 49 0.785
119
CHR198 Chromosome 15q Deletion 12 0.785
120
CHR178 Chromosomal Triplication 34 0.785
121
P BRS047 Breast Cancer 98 0.731
122
c FML306 Familial or Sporadic Hemiplegic Migraine 37 0.555
123
SPS057 Spasticity 42 0.555
124
P ALZ034 Alzheimer Disease 87 0.555
125
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.555
126
c DVL030 Developmental and Epileptic Encephalopathy 36 40 0.555
127
c WRB002 Warburg Micro Syndrome 1 51 0.555
128
GLL008 Gilles De La Tourette Syndrome 65 0.555
129
c EPS048 Episodic Ataxia, Type 9 26 0.555
130
P OCL002 Oculocutaneous Albinism 59 0.555
131
OPP004 Oppositional Defiant Disorder 49 0.555
132
c DVL039 Developmental and Epileptic Encephalopathy 11 40 0.555
133
MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 30 0.555
134
CHR174 Christianson Syndrome 47 0.555
135
P WRB001 Warburg Micro Syndrome 41 0.555
136
CRY035 Cryptorchidism, Unilateral or Bilateral 58 0.555
137
CNV004 Canavan Disease 62 0.555
138
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 0.555
139
PTZ001 Peutz-Jeghers Syndrome 70 0.555
140
LGG001 Legg-Calve-Perthes Disease 60 0.555
141
c ZNC011 Zinc Finger Protein 106 14 0.555
142
AST006 Astigmatism 47 0.555
143
c EPL214 Epileptic Encephalopathy, Infantile or Early Childhood, 2 24 0.555
144
DSN002 Desanto-Shinawi Syndrome 35 0.555
145
c DVL080 Developmental and Epileptic Encephalopathy 56 25 0.555
146
P MJR001 Major Depressive Disorder 68 0.555
147
MCR302 Macrostomia, Isolated 29 0.555
148
c MGR025 Migraine with Aura 7 11 0.555
149
DWN001 Down Syndrome 70 0.555
150
DGR001 Digeorge Syndrome 62 0.555
151
c TBR025 Tuberous Sclerosis 1 84 0.555
152
P ATT013 Attention Deficit-Hyperactivity Disorder 64 0.555
153
P HYP750 Hypertriglyceridemia, Familial 62 0.555
154
DMN031 Dementia, Lewy Body 65 0.555
155
c GLC092 Glaucoma, Primary Open Angle 62 0.555
156
c MGR032 Migraine, Familial Hemiplegic, 1 54 0.555
157
c GLC048 Glaucoma 1, Open Angle, I 14 0.555
158
MNT266 Mental Retardation and Distinctive Facial Features with or Without Cardiac Defects 30 0.555
159
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 38 0.555
160
c NNN027 Noonan Syndrome-Like Disorder with Loose Anagen Hair 2 42 0.555
161
P SCL018 Scoliosis 57 0.555
162
P OPN001 Open-Angle Glaucoma 55 0.555
163
SPC005 Speech Disorder 45 0.555
164
LRN003 Learning Disability 49 0.555
165
P MVM001 Movement Disease 61 0.555
166
c MNS008 Monosomy 21 25 0.555
167
INV022 Inverted Duplicated Chromosome 15 Syndrome 21 0.555
168
MNT002 Mental Depression 57 0.555
169
CLR030 Clear Cell Renal Cell Carcinoma 54 0.555
170
PRP016 Paraplegia 52 0.555
171
FBR047 Fibromyalgia 58 0.555
172
c MNT337 Mental Retardation, Autosomal Dominant 58 23 0.555
173
c DVL091 Developmental and Epileptic Encephalopathy 67 26 0.555
174
SPP007 Suppression Amblyopia 38 0.555
175
AMB002 Amblyopia 50 0.555
176
P MGR003 Migraine with Aura 52 0.555
177
P DMN002 Dementia 66 0.555
178
CRT012 Cortical Blindness 42 0.555
179
c HRD010 Hereditary Spastic Paraplegia 66 0.555
180
HMG005 Hemoglobinopathy 56 0.555
181
DPH006 Diaphragmatic Eventration 34 0.555
182
MNN009 Meningoencephalitis 48 0.555
183
P KDN017 Kidney Cancer 61 0.555
184
MDD011 Mood Disorder 62 0.555
185
CND002 Conduct Disorder 51 0.555
186
HYP080 Hypogonadism 50 0.555
187
ALB002 Albinism 47 0.555
189
STX004 Stxbp1 Encephalopathy with Epilepsy 15 0.555
193
DRG003 Drug Dependence 46 0.555
195
P PRC019 Precocious Puberty 47 0.555
196
DPR016 Depression 65 0.555
197
GLC024 Glucose Transporter Type 1 Deficiency Syndrome 39 0.555
200
GNT046 Genetic Epilepsy with Febrile Seizures Plus 29 0.555
201
INF065 Infantile Hypotonia 21 0.555
202
CHR190 Chromosome 12p Duplication 27 0.555
203
PNS014 Penis Agenesis 36 0.555
204
P OVR042 Ovarian Cancer 88 0.517
205
P PNC035 Pancreatic Cancer 86 0.517
206
CLL010 Cellular Ependymoma 57 0.517
207
c NRB010 Neuroblastoma 1 59 0.470
208
IRN008 Iron Overload in Africa 51 0.413
209
c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57 0.413
210
HPT079 Hepatoid Adenocarcinoma 39 0.413
211
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.413
212
RJS001 Ruijs-Aalfs Syndrome 47 0.413
213
c HPT073 Hepatitis C Virus 71 0.413
214
P HPT023 Hepatocellular Carcinoma 96 0.413
215
PDT042 Pediatric Hepatocellular Carcinoma 49 0.413
216
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 0.413
217
ADL096 Adult Hepatocellular Carcinoma 60 0.413
218
FBR086 Fibrolamellar Carcinoma 59 0.413
219
HPT011 Hepatocellular Clear Cell Carcinoma 46 0.413
220
PTY007 Pityriasis Rotunda 26 0.413
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