Search results for gsc

284 hits were found for gsc

# Family MCID Name MIFTS Score
1
SHR109 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 34 34.564
2
GLB002 Glioblastoma 67 12.287
3
GLL048 Glial Tumor 52 9.672
4
GLM045 Glioma 62 9.491
5
VLC001 Velocardiofacial Syndrome 57 9.052
6
DGR001 Digeorge Syndrome 62 9.052
7
P CRN015 Cornelia De Lange Syndrome 67 9.024
8
c MTR026 Maturity-Onset Diabetes of the Young, Type 9 35 8.736
9
HGH043 High Grade Glioma 46 3.725
10
BRN028 Brain Cancer 73 2.672
11
P GLM040 Glioma Susceptibility 1 70 1.887
12
HYP266 Hypoxia 56 1.522
13
c ATM006 Autoimmune Lymphoproliferative Syndrome 75 1.337
14
P HRP006 Herpes Simplex 65 1.310
15
PLY150 Polykaryocytosis Inducer 29 1.288
16
MCR103 Microtia 40 1.253
17
P GST053 Gastric Cancer 82 1.211
18
SPS057 Spasticity 43 1.153
19
P GLL022 Guillain-Barre Syndrome 59 1.095
20
P BRS047 Breast Cancer 97 1.075
21
FTL006 Fetal Alcohol Spectrum Disorder 43 1.046
22
MLG169 Malignant Astrocytoma 57 1.041
23
P FTL001 Fetal Alcohol Syndrome 55 1.011
24
P TRC072 Treacher Collins Syndrome 1 62 1.011
26
P SCL018 Scoliosis 57 1.011
27
P CRB154 Cerebrocostomandibular Syndrome 55 0.970
28
BNG077 Benign Idiopathic Neonatal Seizures 22 0.970
29
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.922
30
AGN016 Aging 54 0.837
31
P ATX030 Ataxia-Telangiectasia 80 0.816
32
TLN003 Telangiectasis 51 0.816
33
TND004 Tendinopathy 45 0.807
34
TND005 Tendinitis 54 0.807
35
HDR003 Hidradenitis 50 0.788
36
HDR002 Hidradenitis Suppurativa 54 0.788
37
OCL069 Ocular Motor Apraxia 57 0.785
38
SVR004 Severe Combined Immunodeficiency 71 0.785
39
BRN032 Brain Glioma 45 0.764
40
MCR011 Microinvasive Gastric Cancer 41 0.753
41
c LKM061 Leukemia, Acute Myeloid 83 0.730
42
LWG006 Low Grade Glioma 41 0.719
43
GLS001 Gliosarcoma 63 0.719
44
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.632
45
MLL002 Miller Fisher Syndrome 40 0.619
46
P ADN016 Adenocarcinoma 63 0.619
47
P BCL017 B-Cell Lymphoma 57 0.619
48
P PNC035 Pancreatic Cancer 86 0.602
49
HLX001 Helix Syndrome 47 0.592
50
47X002 47,xyy 48 0.577
51
P RTN024 Retinoblastoma 72 0.563
52
P LNG064 Lung Cancer Susceptibility 3 70 0.548
53
KRN002 Kearns-Sayre Syndrome 63 0.548
54
P GST044 Gastritis 55 0.548
55
HDN002 Head Injury 44 0.548
56
P PRS040 Prostate Cancer 95 0.532
57
P NRB001 Neuroblastoma 66 0.532
58
P ENC004 Encephalitis 61 0.532
59
P BLD134 Bladder Cancer 79 0.516
60
P INF032 Infertility 60 0.516
61
TRM010 Traumatic Brain Injury 50 0.516
62
HLC007 Helicobacter Pylori Infection 67 0.500
63
CNV004 Canavan Disease 61 0.500
65
P LKD001 Leukodystrophy 58 0.500
66
P FML011 Familial Adenomatous Polyposis 71 0.500
67
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 56 0.500
68
DDN004 Duodenogastric Reflux 31 0.483
69
P NRF002 Neurofibromatosis 60 0.483
70
EMB004 Embryonal Carcinoma 55 0.465
71
GST040 Gastric Adenocarcinoma 66 0.465
72
BRN071 Brain Injury 50 0.465
73
ANX010 Anxiety 70 0.447
74
c LSS005 Lissencephaly 1 57 0.447
75
PPL052 Papillomatosis, Confluent and Reticulated 34 0.447
76
P HPT023 Hepatocellular Carcinoma 95 0.447
77
P LSS002 Lissencephaly 53 0.447
78
P OLG002 Oligodendroglioma 66 0.447
79
DPR016 Depression 65 0.447
80
P OVR082 Overgrowth Syndrome 42 0.447
81
P SMK004 Smoking As a Quantitative Trait Locus 3 44 0.428
82
TBC004 Tobacco Addiction 63 0.428
83
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 60 0.428
84
P THR014 Thrombocytopenia 66 0.428
85
JPN002 Japanese Encephalitis 61 0.428
86
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 0.408
87
c TBR025 Tuberous Sclerosis 1 84 0.408
88
P TBR001 Tuberous Sclerosis 69 0.408
89
P BNG030 Benign Ependymoma 51 0.408
90
CRB037 Cerebral Palsy 67 0.408
91
NWC001 Newcastle Disease 48 0.408
92
DYS073 Dysphagia 53 0.408
93
CLL010 Cellular Ependymoma 58 0.408
94
CLP005 Ciliopathy 41 0.408
95
P ZNC008 Zinc Finger Protein 1 22 0.387
96
c WLM013 Wilms Tumor 1 65 0.387
97
P PLY020 Polyradiculoneuropathy 47 0.387
98
ANP005 Anaplastic Astrocytoma 59 0.387
99
P MYL006 Myeloid Leukemia 60 0.387
100
DFF016 Diffuse Astrocytoma 48 0.387
101
P NRP001 Neuropathy 59 0.387
102
ATM095 Autoimmune Disease 61 0.365
103
CLT003 Colitis 63 0.365
104
P PLY019 Polyneuropathy 53 0.365
105
P DMY001 Demyelinating Polyneuropathy 41 0.365
106
CNT033 Central Nervous System Cancer 47 0.365
107
P LCT001 Lactic Acidosis 50 0.365
108
FTT001 Fatty Liver Disease 61 0.365
109
P LNG032 Lung Cancer 98 0.342
110
GST009 Gastroschisis 53 0.342
111
GLB012 Glioblastoma Proneural Subtype 8 0.342
112
ALL003 Allergic Rhinitis 66 0.342
113
INT323 Intraocular Pressure Quantitative Trait Locus 63 0.342
114
P MCR010 Microcephaly 59 0.342
115
CHL004 Cholelithiasis 48 0.342
116
P LKM002 Leukemia 66 0.342
117
P RHN004 Rhinitis 57 0.342
118
OST159 Osteogenic Sarcoma 66 0.342
119
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.342
120
BCK006 Back Pain 43 0.342
121
INT075 Intracranial Hypertension 52 0.342
122
P MTR014 Motor Neuron Disease 65 0.342
123
P BLR006 Biliary Tract Disease 46 0.342
124
ABD010 Abdominal Wall Defect 39 0.342
125
MSL001 Measles 61 0.342
126
MLT075 Multifocal Motor Neuropathy 45 0.342
127
P JBR020 Joubert Syndrome 1 74 0.316
128
INS024 Insulin-Like Growth Factor I 77 0.316
129
AMB002 Amblyopia 49 0.316
130
SPP007 Suppression Amblyopia 38 0.316
131
OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 55 0.316
132
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.316
133
P CLR023 Colorectal Cancer 100 0.316
134
ACT098 Acute Erythroid Leukemia 55 0.316
135
AZS001 Azoospermia 45 0.316
136
c NPH019 Nephronophthisis 1 51 0.316
137
DRM006 Dermatitis 62 0.316
138
CYT002 Cytokine Deficiency 43 0.316
139
P HLP001 Holoprosencephaly 69 0.316
140
48X005 48,xyyy 39 0.316
141
P INF038 Influenza 68 0.316
142
SBC016 Subacute Delirium 42 0.316
143
BCK018 Bickerstaff Brainstem Encephalitis 20 0.316
144
c SPR119 Spermatogenic Failure, X-Linked, 1 36 0.289
145
P GRF003 Graft-Versus-Host Disease 71 0.289
146
CYS005 Cysticercosis 60 0.289
147
BLM002 Bulimia Nervosa 57 0.289
148
c OPT053 Optic Atrophy 1 62 0.289
149
c CRN139 Cornelia De Lange Syndrome 1 61 0.289
150
HRW001 Hair Whorl 35 0.289
151
P PRN023 Prion Disease 60 0.289
152
P MLN007 Male Infertility 56 0.289
153
P PLY011 Polycystic Ovary Syndrome 57 0.289
154
THR016 Thrombophlebitis 50 0.289
155
P MGL030 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 46 0.289
156
LRN003 Learning Disability 49 0.289
157
P ATR005 Atrophic Gastritis 50 0.289
158
c ACT135 Acute Graft Versus Host Disease 51 0.289
159
ARL004 Aural Atresia, Congenital 32 0.258
160
WST005 West Nile Virus 55 0.258
161
IMR003 Imerslund-Grasbeck Syndrome 2 25 0.258
162
PRT251 Proteinuria, Chronic Benign 58 0.258
163
DSS032 Disease by Infectious Agent 55 0.258
164
P FNC004 Fanconi Syndrome 60 0.258
165
P OPN001 Open-Angle Glaucoma 55 0.258
166
RPD005 Rapidly Involuting Congenital Hemangioma 48 0.258
167
PRM013 Premature Menopause 57 0.258
168
P MDL005 Medulloblastoma 75 0.258
169
ALC007 Alcohol Dependence 65 0.258
170
c ATM089 Autoimmune Neuropathy 28 0.258
171
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.258
172
ALS001 Alstrom Syndrome 65 0.258
173
c GLC092 Glaucoma, Primary Open Angle 61 0.258
174
PTZ001 Peutz-Jeghers Syndrome 69 0.258
175
PLC001 Placenta Accreta 44 0.258
176
GST023 Gastric Ulcer 52 0.258
177
MSN004 Mesenchymal Cell Neoplasm 42 0.258
178
MGL009 Megalencephalic Leukoencephalopathy with Subcortical Cysts 1 47 0.258
179
P IMR002 Imerslund-Grasbeck Syndrome 1 41 0.258
180
P KDN018 Kidney Disease 72 0.258
181
P SLP005 Sleep Disorder 62 0.258
182
P HDC001 Headache 56 0.258
183
c FNC042 Fanconi Anemia, Complementation Group D2 54 0.224
184
P TST021 Testicular Germ Cell Tumor 61 0.224
185
c HMP013 Hemophagocytic Lymphohistiocytosis, Familial, 3 47 0.224
186
c MCR115 Microvascular Complications of Diabetes 5 65 0.224
187
c FNC027 Fanconi Anemia, Complementation Group a 81 0.224
188
P DRM053 Dermatitis, Atopic 65 0.224
189
c SML038 Small Cell Cancer of the Lung 69 0.224
190
PNM010 Pneumothorax, Primary Spontaneous 58 0.224
191
P FRG001 Fragile X Syndrome 70 0.224
192
HND015 Hand Skill, Relative 29 0.224
193
P END044 Endometriosis 62 0.224
194
P SBS003 Substance Abuse 54 0.224
195
AMN003 Amnestic Disorder 54 0.224
196
PNM008 Pneumothorax 54 0.224
197
DPH001 Diphtheria 59 0.224
198
END007 Endosalpingiosis 37 0.224
199
TST014 Testicular Cancer 51 0.224
200
STR067 Stroke, Ischemic 79 0.224
201
PRS064 Persistent Vegetative State 33 0.224
202
PPT005 Peptic Ulcer Disease 58 0.224
203
P AXN001 Axonal Neuropathy 33 0.224
204
P MYT002 Myotonic Dystrophy 51 0.224
205
DSS012 Disseminated Infection with Mycobacterium Avium Complex 18 0.224
206
GRM010 Germ Cells Tumors 33 0.224
207
ERY069 Erythrokeratoderma ''en Cocardes'' 26 0.224
208
c NRF023 Neurofibromatosis, Type Ii 70 0.183
209
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.183
210
MYL005 Myelofibrosis 70 0.183
211
c BRN108 Branchiootic Syndrome 1 63 0.183
212
CMB007 Combined Immunodeficiency 56 0.183
213
NNL005 Non-Alcoholic Fatty Liver Disease 63 0.183
214
DFF039 Diffuse Midline Glioma, H3 K27m-Mutant 47 0.183
215
c TYP008 Type 1 Diabetes Mellitus 77 0.183
216
IMM167 Immune Deficiency Disease 77 0.183
217
ASP007 Aspiration Pneumonia 49 0.183
218
HMN044 Human Immunodeficiency Virus Type 1 76 0.183
219
c HYP836 Hypercholesterolemia, Familial, 1 73 0.183
220
P HYP750 Hypertriglyceridemia, Familial 62 0.183
221
KPS004 Kaposi Sarcoma 76 0.183
222
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 0.183
223
c ART101 Aortic Valve Disease 2 65 0.183
224
SRC014 Sarcoma 64 0.183
225
P RSP003 Respiratory Failure 74 0.183
226
KRT019 Keratitis, Hereditary 66 0.183
227
WLL001 Williams-Beuren Syndrome 60 0.183
228
IDH004 Idh-Mutant Glioblastoma 9 0.183
229
LPD008 Lipid Metabolism Disorder 61 0.183
230
THY030 Thyroid Gland Disease 50 0.183
231
SYN005 Synostosis 43 0.183
232
MTH009 Mouth Disease 57 0.183
233
P BLD062 Bile Duct Cancer 68 0.183
234
HRM002 Hermaphroditism 35 0.183
235
P BNG032 Benign Mesothelioma 53 0.183
236
P GLL018 Gallbladder Cancer 53 0.183
237
P CRN300 Coronary Heart Disease 1 73 0.183
238
P CHR345 Chronic Pain 50 0.183
239
SPN035 Spindle Cell Sarcoma 51 0.183
240
SGN002 Signet Ring Cell Adenocarcinoma 46 0.183
241
OPD006 Opioid Addiction 48 0.183
242
P SZR006 Seizure Disorder 69 0.183
243
EXP002 Exposure Keratitis 26 0.183
244
CLF001 Cleft Lip 54 0.183
245
HYP005 Hypokalemia 55 0.183
246
P MNC007 Monocytic Leukemia 48 0.183
247
P MNN013 Meningitis 65 0.183
249
PRM329 Premature Aging 36 0.183
250
HMN047 Human Cytomegalovirus Infection 59 0.129
251
P OVR042 Ovarian Cancer 88 0.129
252
PPL035 Papillary Thyroid Microcarcinoma 39 0.129
253
P HNT016 Huntington Disease 73 0.129
254
P CMP072 Camptodactyly Syndrome, Guadalajara, Type I 31 0.129
255
STT001 Status Epilepticus 58 0.129
256
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.129
257
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65 0.129
258
PLM001 Pulmonary Tuberculosis 69 0.129
259
BRN004 Brain Edema 54 0.129
260
P OVR049 Ovarian Disease 50 0.129
261
P HYP086 Hypothyroidism 69 0.129
262
GNR004 Generalized Anxiety Disorder 55 0.129
263
PPL021 Papilledema 49 0.129
264
P HYD006 Hydrocephalus 63 0.129
265
ART016 Aortic Aneurysm 69 0.129
266
HYP066 Hyperglycemia 60 0.129
267
TRT001 Teratocarcinoma 41 0.129
268
P TMP001 Temporal Lobe Epilepsy 49 0.129
269
c ART067 Aortic Aneurysm, Familial Thoracic 1 61 0.129
270
ANR040 Aneurysm 60 0.129
271
P CRB088 Cerebral Atrophy 33 0.129
272
TBR011 Tuberculous Meningitis 48 0.129
273
SYN036 Syncope 44 0.129
274
BBS001 Babesiosis 49 0.129
275
P PNM007 Pneumonia 64 0.129
276
TNS014 Tenosynovitis 45 0.129
277
ETN001 Eating Disorder 59 0.129
278
c DNT047 Dentinogenesis Imperfecta Type 2 35 0.129
279
P HYP083 Hypopituitarism 52 0.129
280
P DBT005 Diabetes Insipidus 54 0.129
281
c BCT007 Bacterial Meningitis 55 0.129
282
CLF004 Cleft Lip/palate 57 0.129
283
P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 27 0.129
284
THY029 Thyroid Carcinoma 54 0.129
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