Search results for GRIN2A

336 hits were found for GRIN2A

# Family MCID Name MIFTS Score
1
EPL118 Epilepsy, Focal, with Speech Disorder and with or Without Mental Retardation 67 79.174
2
BNG009 Benign Epilepsy with Centrotemporal Spikes 60 66.073
3
LND001 Landau-Kleffner Syndrome 51 64.839
4
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 31.964
5
P EPL164 Epilepsy 68 24.737
7
DSS008 Disease of Mental Health 74 22.011
8
FCL014 Focal Epilepsy 53 20.233
9
ERL023 Early-Onset Epileptic Encephalopathy and Intellectual Disability Due to Grin2a Mutation 13 18.895
10
APH002 Aphasia 56 17.649
11
SPC005 Speech Disorder 45 16.991
12
P SCH015 Schizophrenia 74 16.668
13
P MLN008 Melanoma 76 15.318
14
P ATT013 Attention Deficit-Hyperactivity Disorder 64 14.719
15
P BPL003 Bipolar Disorder 56 13.879
16
EPL170 Epilepsy-Aphasia Spectrum 21 13.792
17
ALC007 Alcohol Dependence 66 13.605
18
P TMP001 Temporal Lobe Epilepsy 49 13.326
19
P HNT016 Huntington Disease 73 13.206
20
P ATS364 Autism 69 13.086
21
c ATS007 Autism Spectrum Disorder 72 12.739
22
SPC010 Speech and Communication Disorders 48 11.916
23
P MCR010 Microcephaly 60 11.142
24
c SYS001 Systemic Lupus Erythematosus 87 11.132
25
P MJR001 Major Depressive Disorder 68 10.912
26
P DYS154 Dystonia 64 10.912
27
P PRK057 Parkinson Disease, Late-Onset 80 10.040
28
OBS002 Obsessive-Compulsive Disorder 68 9.903
29
ANX010 Anxiety 70 9.664
30
P CFF008 Coffin-Siris Syndrome 1 64 9.664
31
P NRC002 Narcolepsy 56 9.089
32
TRN015 Transient Cerebral Ischemia 63 9.089
33
P PRN023 Prion Disease 60 9.089
34
VSC002 Vascular Dementia 60 9.089
35
P EPL140 Epilepsy, Idiopathic Generalized 62 8.919
36
P ENC018 Encephalopathy 62 8.776
37
OPD006 Opioid Addiction 48 8.622
38
RLN004 Rolandic Epilepsy-Speech Dyspraxia Syndrome 17 8.021
39
P FRG001 Fragile X Syndrome 70 7.424
40
DRV001 Dravet Syndrome 69 7.241
41
P SZR006 Seizure Disorder 70 7.181
42
P ERL057 Early Infantile Epileptic Encephalopathy 60 7.002
43
WST001 West Syndrome 59 7.002
44
PSY004 Psychotic Disorder 66 7.002
45
LNG015 Lingual-Facial-Buccal Dyskinesia 47 7.002
46
KGM001 Kagami-Ogata Syndrome 53 6.427
47
CHL058 Childhood Electroclinical Syndrome 24 6.427
48
P ELC007 Electroclinical Syndrome 30 6.427
49
FTL006 Fetal Alcohol Spectrum Disorder 43 6.427
50
LNN001 Lennox-Gastaut Syndrome 61 6.427
51
P PRV006 Pervasive Developmental Disorder 52 6.427
52
SPC003 Specific Developmental Disorder 29 6.427
53
P FTL001 Fetal Alcohol Syndrome 55 6.427
54
PHL006 Phelan-Mcdermid Syndrome 60 6.427
55
KFM001 Kaufman Oculocerebrofacial Syndrome 55 6.427
56
OCL052 Ocular Dominance 40 6.427
57
c BLC007 Bile Acid Synthesis Defect, Congenital, 1 45 6.427
58
c ATS203 Autosomal Dominant Non-Syndromic Intellectual Disability 45 6.427
59
TXC002 Toxic Encephalopathy 52 6.427
60
HGH001 High Pressure Neurological Syndrome 27 6.427
61
P CHL002 Childhood Absence Epilepsy 63 6.427
62
SPN033 Spontaneous Ocular Nystagmus 25 6.427
63
AMN003 Amnestic Disorder 54 6.427
64
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 5.084
65
STT001 Status Epilepticus 59 4.138
66
P AGN002 Agnosia 54 3.771
67
APR001 Apraxia 52 3.515
68
END057 Endometrial Cancer 72 3.513
69
P GST053 Gastric Cancer 83 3.288
70
SML031 Small Cell Carcinoma of the Bladder 46 3.273
71
CNT106 Centralopathic Epilepsy 33 3.224
72
P LNG064 Lung Cancer Susceptibility 3 70 3.178
73
P FBR031 Febrile Seizures 52 3.104
74
GST103 Gastric Cancer, Hereditary Diffuse 68 3.078
75
P PRS040 Prostate Cancer 95 3.014
76
LNG039 Lung Squamous Cell Carcinoma 57 2.836
77
c MJR022 Major Affective Disorder 8 38 2.747
78
c MJR024 Major Affective Disorder 9 41 2.747
79
GST040 Gastric Adenocarcinoma 67 2.713
80
P DVL113 Developmental and Epileptic Encephalopathy 43 2.677
81
ADN011 Adenoid Cystic Carcinoma 68 2.676
82
ADN089 Adenosquamous Lung Carcinoma 49 2.652
83
P LNG032 Lung Cancer 98 2.602
84
P TMR010 Tumor Predisposition Syndrome 67 2.602
85
BRN015 Bronchiolo-Alveolar Adenocarcinoma 55 2.602
86
SKN019 Skin Melanoma 71 2.585
87
DPR016 Depression 65 2.578
88
SML009 Small Intestine Adenocarcinoma 57 2.577
89
c PLY162 Polyposis Syndrome, Hereditary Mixed, 1 60 2.461
90
c CLR087 Colorectal Cancer 12 34 2.461
91
RLN001 Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked 23 2.357
92
PRS063 Paresthesia 39 2.300
93
CNT063 Continuous Spike-Wave During Slow Sleep Syndrome 24 2.253
94
P MVM001 Movement Disease 61 2.238
95
NSP003 Nasopharyngeal Disease 34 2.195
96
P NSP012 Nasopharyngeal Carcinoma 61 2.195
97
NSP002 Nasopharyngitis 45 2.195
99
CLN015 Colon Adenocarcinoma 65 2.165
100
P JVN007 Juvenile Absence Epilepsy 47 2.082
101
c EPL133 Epilepsy, Juvenile Absence 1 46 2.082
102
MDD011 Mood Disorder 62 2.082
103
P MLN066 Melanoma, Cutaneous Malignant 1 66 1.873
104
CHR621 Chromosome 16p11.2 Deletion Syndrome, 593-Kb 27 1.823
105
MNT002 Mental Depression 57 1.823
106
MTS001 Mutism 44 1.823
107
CHR498 Chromosome 16p11.2 Duplication Syndrome 27 1.823
108
P BRS047 Breast Cancer 98 1.774
109
MNT320 Mental Retardation, Autosomal Dominant 6, with or Without Seizures 30 1.669
110
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 1.669
111
P ALC033 Alcohol Use Disorder 61 1.628
112
MLN065 Melanocytic Nevus Syndrome, Congenital 62 1.488
113
c GLM047 Glioma Susceptibility 3 33 1.488
114
c MSM022 Mismatch Repair Cancer Syndrome 1 70 1.488
115
c GLM025 Glioma Susceptibility 2 30 1.488
116
c GLM043 Glioma Susceptibility 9 30 1.488
117
P GLM040 Glioma Susceptibility 1 71 1.488
118
MNN043 Meningioma, Familial 79 1.488
119
P OLG002 Oligodendroglioma 66 1.488
120
GLM045 Glioma 63 1.488
121
P SCL018 Scoliosis 57 1.486
122
P HRP006 Herpes Simplex 65 1.486
123
c EPL114 Epilepsy, Familial Temporal Lobe, 1 50 1.478
124
EPL131 Epilepsy, Pyridoxine-Dependent 45 1.478
125
ATS301 Autosomal Dominant Epilepsy with Auditory Features 36 1.478
126
c PRS097 Prostate Cancer, Hereditary, 1 39 1.477
127
c PRS070 Prostate Cancer, Hereditary, 12 22 1.477
128
c PRS071 Prostate Cancer, Hereditary, 13 25 1.477
129
c PRS117 Prostate Cancer, Hereditary, 11 24 1.477
130
c PRS114 Prostate Cancer, Hereditary, 2 33 1.477
131
PRS015 Prostate Signet Ring Cell Adenocarcinoma 25 1.477
132
PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34 1.466
133
SKN022 Skin Squamous Cell Carcinoma 54 1.466
134
PSD011 Pseudovascular Skin Squamous Cell Carcinoma 16 1.466
135
BRS099 Breast Ductal Carcinoma 61 1.443
136
END041 Endometrial Adenocarcinoma 64 1.362
137
P BLD134 Bladder Cancer 79 1.326
138
DYS182 Dysphasia, Familial Developmental 34 1.320
139
P SPC019 Specific Language Impairment 31 1.320
140
CRB004 Cerebral Artery Occlusion 45 1.287
141
HRN003 Heroin Dependence 44 1.287
142
c SCH085 Schizophrenia 2 27 1.248
143
P MJR007 Major Affective Disorder 1 42 1.248
144
16P008 16p11.2 Duplication 16 1.248
145
P CRB088 Cerebral Atrophy 33 1.248
146
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 1.224
147
P LNG021 Lung Occult Small Cell Carcinoma 20 1.224
148
LNG019 Lung Combined Type Small Cell Carcinoma 32 1.224
149
RNL114 Renal Cell Carcinoma, Nonpapillary 80 1.201
150
ESP021 Esophageal Cancer 83 1.169
151
LNG012 Lung Occult Squamous Cell Carcinoma 20 1.127
152
LNG007 Lung Mixed Small Cell and Squamous Cell Carcinoma 21 1.127
153
P MLT020 Multiple Sclerosis 79 0.997
154
TRD006 Tardive Dyskinesia 53 0.997
155
RPD005 Rapidly Involuting Congenital Hemangioma 46 0.997
156
LRN003 Learning Disability 49 0.997
157
P ADN016 Adenocarcinoma 63 0.997
158
P FLL037 Follicular Lymphoma 74 0.955
159
P OVR042 Ovarian Cancer 88 0.936
160
c BSL007 Basal Cell Carcinoma 68 0.936
161
P PNC035 Pancreatic Cancer 86 0.894
162
BNG081 Benign Childhood Occipital Epilepsy, Panayiotopoulos Type 18 0.814
163
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.814
164
P RHM011 Rheumatoid Arthritis 82 0.814
165
P CLR023 Colorectal Cancer 100 0.814
166
c FNC042 Fanconi Anemia, Complementation Group D2 54 0.814
167
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 0.814
168
c TBR025 Tuberous Sclerosis 1 84 0.814
169
DNT005 Dentatorubral-Pallidoluysian Atrophy 60 0.814
170
P ART022 Arthritis 71 0.814
171
P TBR001 Tuberous Sclerosis 69 0.814
172
SGN002 Signet Ring Cell Adenocarcinoma 46 0.814
173
STX004 Stxbp1 Encephalopathy with Epilepsy 15 0.814
174
HYP266 Hypoxia 57 0.814
175
MRK001 Merkel Cell Carcinoma 64 0.807
176
LBL001 Lobular Neoplasia 55 0.807
177
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 0.745
178
SPR108 Suprabulbar Paresis, Congenital 28 0.745
179
P CNT116 Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1a 54 0.745
180
CHL109 Childhood Apraxia of Speech 43 0.745
181
P PRC031 Preeclampsia/eclampsia 1 43 0.731
182
c PRC016 Pre-Eclampsia 65 0.731
183
PLS025 Plasmablastic Lymphoma 56 0.722
184
c MLN067 Melanoma, Cutaneous Malignant 2 29 0.625
185
VNH007 Von Hippel-Lindau Syndrome 73 0.625
186
c MLN075 Melanoma, Cutaneous Malignant 3 24 0.625
187
c MLN042 Melanoma, Cutaneous Malignant 6 20 0.625
188
LMN016 Luminal Breast Carcinoma B 28 0.625
189
P LMN015 Luminal Breast Carcinoma a 35 0.625
190
c MLN040 Melanoma, Cutaneous Malignant 7 17 0.625
191
c MLN077 Melanoma, Cutaneous Malignant 9 20 0.625
192
c MLN076 Melanoma, Cutaneous Malignant 5 22 0.625
193
c MLN074 Melanoma, Cutaneous Malignant 4 17 0.625
194
MLT165 Multilocular Cystic Renal Neoplasm of Low Malignant Potential 28 0.625
195
MLT003 Multilocular Clear Cell Renal Cell Carcinoma 32 0.625
196
CLR030 Clear Cell Renal Cell Carcinoma 54 0.625
197
c MLN043 Melanoma, Cutaneous Malignant 8 37 0.625
198
HRY003 Hairy Cell Leukemia 61 0.625
199
PPL004 Papillary Squamous Carcinoma 39 0.625
200
c WLF013 Wolfram Syndrome 1 60 0.575
201
P RRN017 Rare Intellectual Disability 11 0.575
202
P THL005 Thalassemia 56 0.575
203
c DFN170 Deafness, Autosomal Recessive 31 39 0.575
204
c OTP006 Otopalatodigital Syndrome, Type I 60 0.575
205
P RTT002 Rett Syndrome 79 0.575
206
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 0.575
207
ANR007 Anorexia Nervosa 60 0.575
208
PRX015 Paroxysmal Extreme Pain Disorder 56 0.575
209
WTH001 Withdrawal Disorder 48 0.575
210
CHR174 Christianson Syndrome 47 0.575
211
P ADM011 Adams-Oliver Syndrome 58 0.575
212
c SCH080 Schizophrenia 3 28 0.575
213
NCL006 Nicolaides-Baraitser Syndrome 46 0.575
214
c PYL008 Pyloric Stenosis, Infantile Hypertrophic, 2 9 0.575
215
CHR593 Chromosome 16p13.3 Deletion Syndrome, Proximal 68 0.575
216
c PYL018 Pyloric Stenosis, Infantile Hypertrophic, 1 35 0.575
218
CLR109 Colorectal Adenocarcinoma 50 0.575
219
VLL006 Villous Adenoma 41 0.575
220
ALP094 Alpha Thalassemia-Intellectual Disability Syndrome Type 1 32 0.575
221
P PRK039 Parkinsonism 55 0.575
222
TRM010 Traumatic Brain Injury 51 0.575
223
P NRB001 Neuroblastoma 66 0.575
224
P PSR002 Psoriasis 63 0.575
225
APP009 Appendix Adenocarcinoma 45 0.575
226
ADG002 Audiogenic Seizures 25 0.575
227
P TRM003 Tremor 48 0.575
228
PNC129 Pancreatic Adenocarcinoma 65 0.575
229
MCN001 Mucinous Adenocarcinoma 49 0.575
230
GLB002 Glioblastoma 67 0.575
231
BLD039 Bladder Adenocarcinoma 32 0.575
232
ADN018 Adenoma 59 0.575
233
PST011 Pustulosis of Palm and Sole 52 0.575
234
LNG099 Lung Disease 62 0.575
235
PCD001 Pica Disease 38 0.575
236
PYL006 Pyloric Stenosis 48 0.575
237
P HYP086 Hypothyroidism 69 0.575
238
GLS001 Gliosarcoma 64 0.575
239
P PLY011 Polycystic Ovary Syndrome 57 0.575
240
c INH020 Inherited Metabolic Disorder 48 0.575
241
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.575
242
P HYP009 Hypertrophic Pyloric Stenosis 41 0.575
244
IQS001 Iqsec2 18 0.575
246
48X005 48,xyyy 39 0.575
247
ATN005 Autonomic Dysfunction 46 0.575
248
OHT001 Ohtahara Syndrome 38 0.575
249
URC003 Urachal Adenocarcinoma 30 0.575
250
BRN071 Brain Injury 50 0.575
251
CHL078 Childhood-Onset Schizophrenia 29 0.575
252
HYP144 Hyperacusis 23 0.575
253
ETN001 Eating Disorder 59 0.575
254
MYL005 Myelofibrosis 71 0.533
255
TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 50 0.533
256
SQM013 Squamous Cell Carcinoma, Head and Neck 73 0.510
257
RNL119 Renal Cell Carcinoma, Xp11-Associated 42 0.510
258
LNG115 Lung Sarcomatoid Carcinoma 36 0.510
259
RNL065 Renal Cell Carcinoma, Papillary, 1 79 0.510
260
BRT002 Birt-Hogg-Dube Syndrome 64 0.510
261
LNG091 Lung Mucoepidermoid Carcinoma 32 0.510
262
CLL002 Collecting Duct Carcinoma 54 0.510
263
CHR177 Chromophobe Renal Cell Carcinoma 54 0.510
264
LNG003 Lung Carcinoma in Situ 36 0.510
265
BSL003 Basaloid Lung Carcinoma 35 0.510
266
THY124 Thyroid Gland Papillary Carcinoma 39 0.510
267
P RNL017 Renal Oncocytoma 54 0.510
268
P LNG035 Lung Large Cell Carcinoma 54 0.510
269
MTN001 Metanephric Adenoma 40 0.510
270
LNG011 Lung Adenoid Cystic Carcinoma 35 0.510
271
ACR014 Acral Lentiginous Melanoma 52 0.510
272
CHL010 Childhood Kidney Cell Carcinoma 38 0.510
273
LNG020 Lung Oat Cell Carcinoma 51 0.510
274
LNG017 Lung Giant Cell Carcinoma 52 0.510
275
c LNG001 Lung Clear Cell Carcinoma 29 0.510
276
PNS010 Penis Squamous Cell Carcinoma 45 0.510
277
PRS008 Prostate Small Cell Carcinoma 25 0.510
278
LNG006 Lung Occult Large Cell Carcinoma 14 0.510
279
LNG002 Lung Combined Large Cell Neuroendocrine Carcinoma 19 0.510
281
PNS005 Penis Mixed Squamous Cell Carcinoma 12 0.510
282
P KDN017 Kidney Cancer 61 0.510
283
HLR002 Hilar Lung Carcinoma 24 0.510
284
LNG014 Lung Superior Sulcus Carcinoma 15 0.510
285
ORL011 Oral Cancer 60 0.510
286
P ALZ034 Alzheimer Disease 87 0.470
287
IRN008 Iron Overload in Africa 51 0.361
288
P RTH006 Rothmund-Thomson Syndrome, Type 2 67 0.361
289
c CHL136 Cholestasis, Progressive Familial Intrahepatic, 2 57 0.361
290
RMB001 Rombo Syndrome 30 0.361
291
PPL049 Papillon-Lefevre Syndrome 66 0.361
292
THY121 Thyroid Gland Anaplastic Carcinoma 67 0.361
293
HPT079 Hepatoid Adenocarcinoma 39 0.361
294
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.361
295
P TRC095 Trichoepithelioma, Multiple Familial, 1 32 0.361
296
c BSL024 Basal Cell Carcinoma 1 55 0.361
297
BSL044 Basal Cell Carcinoma, Infundibulocystic 35 0.361
298
RJS001 Ruijs-Aalfs Syndrome 47 0.361
299
c BSL034 Basal Cell Carcinoma 7 26 0.361
300
c HPT073 Hepatitis C Virus 71 0.361
301
P HPT023 Hepatocellular Carcinoma 96 0.361
302
GST019 Gastrointestinal Stromal Tumor 78 0.361
303
P LRG012 Large Congenital Melanocytic Nevus 47 0.361
304
PDT042 Pediatric Hepatocellular Carcinoma 49 0.361
305
OVR062 Ovary Serous Adenocarcinoma 25 0.361
306
CYS004 Cystic Basal Cell Carcinoma 36 0.361
307
SRC003 Sarcomatoid Basal Cell Carcinoma 28 0.361
308
NDL009 Nodular Basal Cell Carcinoma 40 0.361
309
MTT001 Metatypical Basal Cell Carcinoma 32 0.361
310
PGM002 Pigmented Basal Cell Carcinoma 31 0.361
311
MCR016 Micronodular Basal Cell Carcinoma 34 0.361
312
INF027 Infiltrative Basal Cell Carcinoma 32 0.361
313
OVR011 Ovarian Mucinous Adenocarcinoma 34 0.361
314
PRM126 Primary Peritoneal Carcinoma 62 0.361
315
THY123 Thyroid Gland Follicular Carcinoma 55 0.361
316
ANL013 Anal Margin Basal Cell Carcinoma 18 0.361
317
SBC013 Sebaceous Basal Cell Carcinoma 13 0.361
318
ADM002 Adamantinoid Basal Cell Epithelioma 20 0.361
319
CLR015 Clear Cell Basal Cell Carcinoma 39 0.361
320
ADN015 Adenoid Basal Cell Carcinoma 31 0.361
321
SGN001 Signet Ring Basal Cell Carcinoma 32 0.361
322
MYP002 Myoepithelial Carcinoma 46 0.361
323
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 0.361
324
ADL096 Adult Hepatocellular Carcinoma 60 0.361
325
FBR086 Fibrolamellar Carcinoma 59 0.361
326
HPT011 Hepatocellular Clear Cell Carcinoma 46 0.361
327
EPT010 Epithelial-Myoepithelial Carcinoma 55 0.361
328
SQM006 Squamous Cell Carcinoma 60 0.361
329
P LMY004 Leiomyosarcoma 62 0.361
330
9Q2001 9q22.3 Microdeletion 24 0.361
331
INF057 Inflammatory Linear Verrucous Epidermal Nevus 33 0.361
332
LNR004 Linear Porokeratosis 33 0.361
333
PTY007 Pityriasis Rotunda 26 0.361
334
P BLD062 Bile Duct Cancer 67 0.313
335
THY125 Thyroid Gland Medullary Carcinoma 48 0.313
336
DST001 Distal Biliary Tract Carcinoma 24 0.313
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