Search results for homocysteine

748 hits were found for homocysteine

# Family MCID Name MIFTS Score
1
MTH054 Methylmalonic Aciduria and Homocystinuria, Cblc Type 53 3.877
2
MTH021 Methylmalonic Acidemia with Homocystinuria 46 2.732
3
HMC014 Homocysteinemia 53 1.166
4
P VSC007 Vascular Disease 63 0.713
5
P HMC002 Homocystinuria 54 0.459
6
P CRN018 Coronary Artery Anomaly 63 0.376
7
P HYP724 Hyperlipoproteinemia, Type Iii 72 0.374
8
ART140 Arteries, Anomalies of 53 0.363
9
CRB039 Cerebrovascular Disease 69 0.343
10
P CRN300 Coronary Heart Disease 1 63 0.342
11
NRL016 Neural Tube Defects 82 0.333
12
ATH013 Atherosclerosis Susceptibility 66 0.329
13
VTM002 Vitamin B12 Deficiency 48 0.297
14
c PRC016 Pre-Eclampsia 63 0.287
15
END030 End Stage Renal Failure 58 0.278
16
P KDN018 Kidney Disease 70 0.267
17
c THR092 Thrombophilia Due to Thrombin Defect 73 0.266
18
P ALZ034 Alzheimer Disease 88 0.264
19
P ART021 Arteriosclerosis 54 0.254
20
P HRT032 Heart Disease 75 0.253
21
PRP027 Peripheral Vascular Disease 71 0.247
22
STR067 Stroke, Ischemic 80 0.242
23
c CHR684 Chronic Kidney Disease 66 0.220
24
P CRD246 Cardiovascular System Disease 56 0.208
25
VSC002 Vascular Dementia 57 0.207
26
c HYP836 Hypercholesterolemia, Familial, 1 72 0.202
27
LPD008 Lipid Metabolism Disorder 62 0.202
28
THR024 Thrombosis 56 0.198
29
P DMN002 Dementia 67 0.197
30
P PLY011 Polycystic Ovary Syndrome 56 0.193
31
P MYC007 Myocardial Infarction 70 0.191
32
PLC008 Placenta Disease 49 0.188
33
c HYP595 Hypertension, Essential 84 0.175
34
ISC004 Ischemia 60 0.175
35
P ECL001 Eclampsia 51 0.169
36
P SZR006 Seizure Disorder 58 0.167
37
P HYP086 Hypothyroidism 68 0.165
38
P DBT009 Diabetes Mellitus 64 0.165
39
VSL002 Visual Epilepsy 58 0.165
40
c ACT075 Acute Myocardial Infarction 56 0.161
41
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 0.158
42
DPR016 Depression 63 0.158
43
c BDY007 Body Mass Index Quantitative Trait Locus 1 42 0.152
44
ALC007 Alcohol Dependence 66 0.150
45
INT007 Intermediate Coronary Syndrome 55 0.150
46
P MCR115 Microvascular Complications of Diabetes 5 66 0.147
47
FTT001 Fatty Liver Disease 61 0.147
48
DWN001 Down Syndrome 70 0.145
49
HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 51 0.145
50
CRT013 Carotid Stenosis 50 0.140
51
c MCR113 Microvascular Complications of Diabetes 3 52 0.138
52
c MCR120 Microvascular Complications of Diabetes 7 47 0.138
53
c MCR130 Microvascular Complications of Diabetes 6 41 0.138
54
c MCR133 Microvascular Complications of Diabetes 4 41 0.138
56
P SCH015 Schizophrenia 75 0.135
57
ANG054 Angina Pectoris 66 0.135
58
P LVR013 Liver Disease 68 0.133
59
INT323 Intraocular Pressure Quantitative Trait Locus 62 0.128
60
P RTN022 Retinal Vein Occlusion 52 0.125
61
c SVR005 Severe Pre-Eclampsia 49 0.125
62
P SLP006 Sleep Apnea 69 0.122
63
MNT002 Mental Depression 57 0.122
64
P NRB001 Neuroblastoma 71 0.119
65
ART016 Aortic Aneurysm 68 0.119
66
P BPL003 Bipolar Disorder 56 0.119
67
HYP060 Hyperinsulinism 54 0.119
68
PLM033 Pulmonary Embolism 59 0.117
69
GST033 Gestational Diabetes 57 0.117
70
CRN030 Coronary Stenosis 50 0.117
71
c MJR024 Major Affective Disorder 9 41 0.117
72
c MJR022 Major Affective Disorder 8 38 0.117
73
c SYS001 Systemic Lupus Erythematosus 86 0.114
74
P PRK057 Parkinson Disease, Late-Onset 76 0.114
75
P PSR002 Psoriasis 62 0.114
76
P HYP750 Hypertriglyceridemia, Familial 61 0.114
77
PST011 Pustulosis of Palm and Sole 52 0.114
78
P THR015 Thrombophilia 50 0.114
79
HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 45 0.114
80
P OPN001 Open-Angle Glaucoma 49 0.111
81
DFC004 Deficiency Anemia 75 0.107
82
CNG034 Congestive Heart Failure 70 0.107
83
P MJR001 Major Depressive Disorder 68 0.107
84
LVR012 Liver Cirrhosis 63 0.107
85
NNL005 Non-Alcoholic Fatty Liver Disease 62 0.107
86
P LPS004 Lupus Erythematosus 61 0.107
87
c ART138 Aortic Aneurysm, Familial Abdominal, 1 60 0.107
88
URM002 Uremia 49 0.107
89
RTN020 Retinal Vascular Disease 48 0.107
90
PLC007 Placental Abruption 48 0.107
91
TRN015 Transient Cerebral Ischemia 62 0.104
92
ATM095 Autoimmune Disease 61 0.104
93
P NRP001 Neuropathy 56 0.104
94
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 0.101
95
P OST002 Osteoporosis 73 0.101
96
c GLC092 Glaucoma, Primary Open Angle 62 0.101
97
P INF037 Inflammatory Bowel Disease 56 0.101
98
PRP080 Peripheral Artery Disease 53 0.101
99
48X005 48,xyyy 39 0.101
100
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.097
101
P ATR011 Atrial Fibrillation 66 0.097
102
P NPH012 Nephrotic Syndrome 63 0.097
103
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 59 0.097
104
P LTR001 Lateral Sclerosis 53 0.097
105
c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 0.097
106
P MLT020 Multiple Sclerosis 72 0.094
107
c THR082 Thrombophilia Due to Activated Protein C Resistance 60 0.094
108
P FTT008 Fatty Liver Disease, Nonalcoholic 1 57 0.094
109
P MGL001 Megaloblastic Anemia 55 0.094
110
EXF001 Exfoliation Syndrome 54 0.094
111
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.094
112
CYT002 Cytokine Deficiency 44 0.094
113
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 41 0.094
114
ULC004 Ulcerative Colitis 73 0.090
115
c MGR028 Migraine with or Without Aura 1 69 0.090
116
P PRP019 Peripheral Nervous System Disease 57 0.090
117
P LYM031 Lymphocytic Leukemia 55 0.090
118
RYN005 Raynaud Phenomenon 46 0.090
119
c INH020 Inherited Metabolic Disorder 46 0.090
120
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.090
121
P ATS364 Autism 65 0.086
122
NTR005 Nutritional Deficiency Disease 61 0.086
123
HLC007 Helicobacter Pylori Infection 59 0.086
124
AGN016 Aging 56 0.086
125
PRN011 Pernicious Anemia 52 0.086
126
IMP005 Impotence 52 0.086
127
CHR178 Chromosomal Triplication 35 0.086
128
P NRF023 Neurofibromatosis, Type Ii 76 0.082
129
P LKM062 Leukemia, Acute Lymphoblastic 68 0.082
130
APN008 Apnea, Obstructive Sleep 65 0.082
131
MDD011 Mood Disorder 62 0.082
132
SQM006 Squamous Cell Carcinoma 60 0.082
133
GLC003 Glucose Intolerance 54 0.082
134
c CNT016 Central Retinal Vein Occlusion 49 0.082
135
NRL018 Neural Tube Defects, Folate-Sensitive 49 0.082
136
CHL045 Choline Deficiency Disease 39 0.082
137
TRD008 Triiodothyronine Receptor Auxiliary Protein 34 0.082
138
MTH081 Mthfr Gene Variant 14 0.082
139
P RHM011 Rheumatoid Arthritis 80 0.078
140
SCK003 Sickle Cell Anemia 72 0.078
141
c MCR129 Microvascular Complications of Diabetes 1 66 0.078
142
c SCL052 Scleroderma, Familial Progressive 62 0.078
143
HYP066 Hyperglycemia 61 0.078
144
ANR040 Aneurysm 58 0.078
145
EYD002 Eye Disease 58 0.078
146
P INF032 Infertility 57 0.078
147
IRN002 Iron Metabolism Disease 57 0.078
148
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 56 0.078
149
STM007 Stomatitis 49 0.078
150
47X002 47,xyy 49 0.078
151
BNR002 Bone Resorption Disease 48 0.078
152
c MCR112 Microvascular Complications of Diabetes 2 41 0.078
153
P CLR023 Colorectal Cancer 98 0.074
154
P BDY004 Body Mass Index Quantitative Trait Locus 11 76 0.074
155
CRH001 Crohn's Disease 74 0.074
156
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.074
157
CLT003 Colitis 62 0.074
158
P HYP076 Hyperthyroidism 55 0.074
159
CLF001 Cleft Lip 53 0.074
160
P BRS047 Breast Cancer 96 0.069
161
MRF001 Marfan Syndrome 75 0.069
162
P EPL164 Epilepsy 71 0.069
163
RCK004 Rickets 69 0.069
164
P PLM037 Pulmonary Hypertension 68 0.069
165
c ATS007 Autism Spectrum Disorder 67 0.069
166
P CTR002 Cataract 60 0.069
167
ETN001 Eating Disorder 59 0.069
168
P ALC033 Alcohol Use Disorder 58 0.069
169
P OPT006 Optic Nerve Disease 57 0.069
170
P PLY019 Polyneuropathy 56 0.069
171
P GST044 Gastritis 55 0.069
172
RLP002 Relapsing-Remitting Multiple Sclerosis 55 0.069
173
P ANT006 Antiphospholipid Syndrome 54 0.069
174
P MTH008 Methylmalonic Acidemia 51 0.069
175
NNL006 Non-Alcoholic Steatohepatitis 51 0.069
176
VCC001 Vaccinia 49 0.069
177
PYR009 Pyridoxine Deficiency Anemia 34 0.069
178
P HPT023 Hepatocellular Carcinoma 100 0.064
179
P GST053 Gastric Cancer 83 0.064
180
c SPN225 Spondyloarthropathy 1 73 0.064
181
CLF027 Cleft Palate, Isolated 64 0.064
182
ANR007 Anorexia Nervosa 63 0.064
183
SPN051 Spondylitis 52 0.064
184
CRT016 Carotid Artery Disease 52 0.064
185
P SCK005 Sickle Cell Disease 50 0.064
186
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 0.064
187
GNR003 Generalized Atherosclerosis 46 0.064
188
RTN135 Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome 40 0.064
189
P CRB088 Cerebral Atrophy 38 0.064
190
INF009 Inflammatory Spondylopathy 32 0.064
191
HMC030 Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency 14 0.064
192
CYS001 Cystic Fibrosis 80 0.058
193
c ATR087 Atrial Standstill 1 74 0.058
194
c FML021 Familial Hypercholesterolemia 68 0.058
195
CLR108 Colorectal Adenoma 64 0.058
196
GT001 Gout 63 0.058
197
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 62 0.058
198
P VSC011 Vasculitis 62 0.058
199
P MVM001 Movement Disease 61 0.058
200
P SNS001 Sensorineural Hearing Loss 61 0.058
201
P VNT002 Ventricular Septal Defect 60 0.058
202
ADN018 Adenoma 58 0.058
203
P ISL078 Isolated Ectopia Lentis 56 0.058
204
PRT038 Protein-Energy Malnutrition 54 0.058
205
P THY032 Thyroiditis 53 0.058
206
c BDY021 Body Mass Index Quantitative Trait Locus 20 52 0.058
207
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.058
208
HRT011 Heart Septal Defect 50 0.058
209
P MGR003 Migraine with Aura 50 0.058
210
ATS010 Autosomal Recessive Disease 48 0.058
211
c BDY005 Body Mass Index Quantitative Trait Locus 9 48 0.058
212
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.058
213
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.058
214
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.058
215
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.058
216
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.058
217
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.058
218
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.058
219
GRW007 Growth Hormone Deficiency 43 0.058
220
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 0.058
221
P OVR042 Ovarian Cancer 89 0.052
222
MLR004 Malaria 80 0.052
223
OST012 Osteoarthritis 78 0.052
224
IMM167 Immune Deficiency Disease 78 0.052
225
PHN003 Phenylketonuria 75 0.052
226
GLB015 Glioblastoma Multiforme 75 0.052
227
ANX010 Anxiety 72 0.052
228
P AMY004 Amyloidosis 70 0.052
229
P ART022 Arthritis 70 0.052
230
P SYS005 Systemic Scleroderma 70 0.052
231
P CLC063 Celiac Disease 1 68 0.052
232
P DBT085 Diabetes Mellitus, Insulin-Dependent 67 0.052
233
c RHB024 Rhabdomyosarcoma 2 65 0.052
234
P TRN020 Turner Syndrome 65 0.052
235
P GLM045 Glioma 63 0.052
236
HSH003 Hashimoto Thyroiditis 62 0.052
237
SPN186 Spinal Cord Injury 60 0.052
238
P BND020 Bone Disease 59 0.052
239
CRD132 Cardiac Conduction Defect 59 0.052
240
P UVT001 Uveitis 57 0.052
241
ANN002 Anencephaly 55 0.052
242
MCL006 Macular Retinal Edema 55 0.052
243
P MYP006 Myopia 55 0.052
244
DBT010 Diabetic Neuropathy 55 0.052
245
OCL069 Ocular Motor Apraxia 51 0.052
246
SCH012 Schizoaffective Disorder 50 0.052
247
HYP043 Hyperandrogenism 48 0.052
248
P MGR001 Migraine Without Aura 48 0.052
249
CRN017 Coronary Thrombosis 47 0.052
250
P RTN014 Retinal Artery Occlusion 46 0.052
251
CRB008 Cerebral Atherosclerosis 44 0.052
252
RTN021 Retinal Vascular Occlusion 44 0.052
253
BRN026 Branch Retinal Artery Occlusion 43 0.052
254
CLF056 Cleft Lip with or Without Cleft Palate 41 0.052
255
CRN020 Coronary Restenosis 39 0.052
256
MLD002 Mild Pre-Eclampsia 36 0.052
257
MTH086 Methotrexate Toxicity 33 0.052
258
DSR002 Disorders of Intracellular Cobalamin Metabolism 30 0.052
259
CRV035 Cervical Cancer 76 0.045
260
PLM129 Pulmonary Disease, Chronic Obstructive 73 0.045
261
P PHC003 Pheochromocytoma 71 0.045
262
MLT157 Multiple System Atrophy 1 70 0.045
263
OBS002 Obsessive-Compulsive Disorder 68 0.045
264
c JVN010 Juvenile Rheumatoid Arthritis 67 0.045
265
CNN005 Connective Tissue Disease 66 0.045
266
OST159 Osteogenic Sarcoma 66 0.045
267
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 66 0.045
268
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 65 0.045
269
PRT037 Pertussis 65 0.045
270
PRT036 Peritonitis 65 0.045
271
TBC004 Tobacco Addiction 64 0.045
272
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.045
273
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 63 0.045
274
P PRD008 Periodontitis 62 0.045
275
P RHB003 Rhabdomyosarcoma 62 0.045
276
CYS013 Cystinuria 62 0.045
278
INT002 Intermittent Claudication 61 0.045
279
P ENC018 Encephalopathy 61 0.045
280
CHL068 Cholestasis 60 0.045
281
P THL005 Thalassemia 60 0.045
282
P SLP005 Sleep Disorder 59 0.045
283
THY029 Thyroid Carcinoma 59 0.045
284
CHL123 Chlamydia 59 0.045
285
P BRS044 Breast Adenocarcinoma 59 0.045
286
IRN001 Iron Deficiency Anemia 58 0.045
287
BRG013 Buerger Disease 57 0.045
288
BLM002 Bulimia Nervosa 57 0.045
289
OBS525 Obsolete: Squamous Cell Carcinoma of Head and Neck 57 0.045
290
BRN056 Bronchopulmonary Dysplasia 57 0.045
291
P EXN002 Exanthem 57 0.045
292
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.045
293
APH001 Aphthous Stomatitis 57 0.045
294
P PLY018 Polycythemia 55 0.045
295
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.045
296
CLF004 Cleft Lip/palate 54 0.045
297
P LCH002 Lichen Planus 54 0.045
298
c PRD040 Periodontitis, Chronic 54 0.045
299
HLL004 Hellp Syndrome 53 0.045
300
P HYP730 Hypogonadotropic Hypogonadism 53 0.045
301
TRM010 Traumatic Brain Injury 53 0.045
302
HYP014 Hyperuricemia 51 0.045
303
P ATR005 Atrophic Gastritis 50 0.045
304
PST021 Postpartum Depression 50 0.045
305
HYP781 Hypoascorbemia 50 0.045
306
SYS003 Systolic Heart Failure 50 0.045
307
BRN071 Brain Injury 49 0.045
308
INT078 Intracranial Thrombosis 48 0.045
309
ART004 Aortic Atherosclerosis 48 0.045
310
ANV001 Anovulation 47 0.045
311
CLB002 Clubfoot 47 0.045
312
GLS007 Glossitis 47 0.045
313
ADR040 Adrenal Gland Pheochromocytoma 46 0.045
314
GLL048 Glial Tumor 45 0.045
315
ASP026 Asplenia, Isolated Congenital 44 0.045
316
HYP003 Hypermethioninemia 44 0.045
317
c CRV002 Cervix Uteri Carcinoma in Situ 44 0.045
318
c PCH010 Pachyonychia Congenita 3 43 0.045
320
CRV045 Cervical Intraepithelial Neoplasia 39 0.045
321
IDP091 Idiopathic Nephrotic Syndrome 38 0.045
322
c HNT011 Huntington Disease-Like 3 38 0.045
323
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 38 0.045
324
HMC033 Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type 36 0.045
325
HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 32 0.045
327
STT009 Sutton Disease 2 30 0.045
328
ARG004 Argyria 28 0.045
329
CHL079 Children's Interstitial Lung Disease 27 0.045
330
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 0.045
331
P CRT085 Carotid Intimal Medial Thickness 2 25 0.045
332
P PRS040 Prostate Cancer 97 0.037
333
ESP021 Esophageal Cancer 90 0.037
334
c DLT002 Dilated Cardiomyopathy 79 0.037
335
INS024 Insulin-Like Growth Factor I 79 0.037
336
RNL114 Renal Cell Carcinoma, Nonpapillary 78 0.037
337
c PLM164 Pulmonary Hypertension, Primary, 1 75 0.037
338
c HMC039 Hemochromatosis, Type 1 74 0.037
339
SVR004 Severe Combined Immunodeficiency 73 0.037
340
LPT014 Leptin Deficiency or Dysfunction 73 0.037
341
P RTN024 Retinoblastoma 72 0.037
342
c BTT014 Beta-Thalassemia 72 0.037
343
LPD012 Lipoid Congenital Adrenal Hyperplasia 71 0.037
344
FBR012 Fabry Disease 71 0.037
345
HMN044 Human Immunodeficiency Virus Type 1 71 0.037
346
ACR007 Acromegaly 71 0.037
347
c HPT073 Hepatitis C Virus 70 0.037
348
c EXD008 Exudative Vitreoretinopathy 1 69 0.037
349
c PRM196 Premature Ovarian Failure 1 68 0.037
350
P CRD119 Cardiac Arrest 67 0.037
351
PNC129 Pancreatic Adenocarcinoma 67 0.037
352
P HPT021 Hepatitis 67 0.037
353
P LKM002 Leukemia 66 0.037
354
P HYD006 Hydrocephalus 65 0.037
355
P DYS154 Dystonia 65 0.037
356
P ATT013 Attention Deficit-Hyperactivity Disorder 64 0.037
357
P MTR014 Motor Neuron Disease 64 0.037
358
ALL026 Allergic Hypersensitivity Disease 64 0.037
359
KHL003 Kohlschutter-Tonz Syndrome 64 0.037
360
c ART101 Aortic Valve Disease 2 63 0.037
361
P NTR004 Neutropenia 63 0.037
362
P END044 Endometriosis 62 0.037
363
TXC005 Toxic Shock Syndrome 61 0.037
364
P PRM006 Primary Biliary Cirrhosis 61 0.037
365
CHR066 Chronic Fatigue Syndrome 61 0.037
366
c BRN108 Branchiootic Syndrome 1 61 0.037
367
OST003 Osteonecrosis 61 0.037
368
LNG099 Lung Disease 61 0.037
369
P PNC044 Pancreatitis 61 0.037
370
PRT013 Portal Hypertension 60 0.037
371
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 60 0.037
372
RCT015 Reactive Arthritis 60 0.037
373
RTN017 Retinal Detachment 60 0.037
374
ACQ007 Acquired Immunodeficiency Syndrome 60 0.037
375
P ALP009 Alopecia Areata 60 0.037
376
P PTN014 Patent Ductus Arteriosus 1 60 0.037
377
INT066 Interstitial Lung Disease 59 0.037
378
STT001 Status Epilepticus 59 0.037
379
c HYD046 Hydatidiform Mole, Recurrent, 1 59 0.037
380
PPT005 Peptic Ulcer Disease 58 0.037
381
CHL067 Cholecystitis 58 0.037
382
P BCL017 B-Cell Lymphoma 58 0.037
383
CNS004 Constipation 57 0.037
384
c MST023 Mesothelioma, Malignant 57 0.037
385
P GLM007 Glomerulonephritis 57 0.037
386
HYP266 Hypoxia 56 0.037
387
P ALP008 Alopecia 56 0.037
388
P NRM002 Normal Pressure Hydrocephalus 56 0.037
389
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 56 0.037
390
RHM027 Rheumatic Disease 56 0.037
391
GRN034 Grange Syndrome 55 0.037
392
MCS002 Mucositis 55 0.037
393
P GRV001 Graves' Disease 55 0.037
394
LMB062 Limb Ischemia 55 0.037
395
CHL014 Cholera 55 0.037
396
ACT200 Acute Monoblastic Leukemia 55 0.037
397
PRN019 Perinatal Necrotizing Enterocolitis 54 0.037
398
AMN003 Amnestic Disorder 54 0.037
399
END040 Endogenous Depression 54 0.037
400
P RST001 Restless Legs Syndrome 54 0.037
401
AMN001 Amenorrhea 54 0.037
402
PRT082 Preterm Premature Rupture of the Membranes 54 0.037
403
P MNC007 Monocytic Leukemia 54 0.037
404
c LKM070 Leukemia, Acute Monocytic 53 0.037
405
HDR002 Hidradenitis Suppurativa 53 0.037
406
P CNT005 Central Nervous System Lymphoma 53 0.037
407
HRT012 Heart Valve Disease 53 0.037
408
c FML008 Familial Retinoblastoma 53 0.037
409
P RNL017 Renal Oncocytoma 53 0.037
410
NRT001 Neurotic Disorder 52 0.037
411
P INT068 Intestinal Disease 52 0.037
412
MYL020 Myelomeningocele 51 0.037
413
SPP010 Suppressor of Tumorigenicity 3 51 0.037
414
ENT011 Enterocolitis 50 0.037
415
HYP080 Hypogonadism 50 0.037
416
NTR046 Neutrophil Migration 50 0.037
417
BRN009 Burning Mouth Syndrome 49 0.037
418
HYP006 Hypertensive Heart Disease 49 0.037
419
PRN009 Paranoid Schizophrenia 49 0.037
420
c HNT004 Huntington Disease-Like 2 49 0.037
421
P GND004 Gonadal Dysgenesis 49 0.037
422
HDR003 Hidradenitis 49 0.037
423
P RNV001 Renovascular Hypertension 49 0.037
424
DBT006 Diabetic Macular Edema 48 0.037
425
P RNL015 Renal Hypertension 48 0.037
426
ATX019 Ataxia with Vitamin E Deficiency 48 0.037
427
HLX001 Helix Syndrome 47 0.037
428
P ENC008 Encephalocele 47 0.037
429
c PRM226 Primary Central Nervous System Lymphoma 47 0.037
430
ATN005 Autonomic Dysfunction 47 0.037
431
GST010 Gestational Trophoblastic Neoplasm 46 0.037
432
CHL147 Chlamydia Pneumonia 45 0.037
433
HDN002 Head Injury 45 0.037
434
ELS001 Eales Disease 45 0.037
435
P BNG032 Benign Mesothelioma 45 0.037
436
CYS019 Cystathioninuria 45 0.037
437
ORL013 Oral Lichen Planus 45 0.037
438
RBF001 Riboflavin Deficiency 45 0.037
439
BCK003 Background Diabetic Retinopathy 44 0.037
440
P ORF002 Orofacial Cleft 43 0.037
441
ORL015 Oral Squamous Cell Carcinoma 43 0.037
442
SDD008 Sudden Sensorineural Hearing Loss 43 0.037
443
SNL007 Senile Cataract 42 0.037
444
MCR017 Macrocytic Anemia 41 0.037
445
HYP064 Hypogonadotropism 40 0.037
446
P PRG092 Pregnancy Loss, Recurrent 1 40 0.037
447
ALX002 Alexithymia 39 0.037
448
c PLY105 Polycystic Ovary Syndrome 1 38 0.037
449
MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 37 0.037
450
c CHR020 Chronic Interstitial Cystitis 37 0.037
451
P PRC031 Preeclampsia/eclampsia 1 37 0.037
452
HRN029 Hearing Loss, Noise-Induced 37 0.037
453
TTH004 Tethered Spinal Cord Syndrome 35 0.037
454
ATR073 Atrophic Glossitis 35 0.037
455
c CRN133 Coronary Artery Disease, Autosomal Dominant, 1 32 0.037
456
EXN003 Exencephaly 31 0.037
457
PYR016 Pyridoxine Deficiency 30 0.037
458
HMC042 Homocystinuria-Megaloblastic Anemia, Cble Complementation Type 30 0.037
459
NRM022 Neurometabolic Disease 25 0.037
460
OBS529 Obsolete: Combined Hyperlipidemia 22 0.037
461
P LNG032 Lung Cancer 97 0.026
462
MYL069 Myeloma, Multiple 85 0.026
463
P PNC035 Pancreatic Cancer 84 0.026
464
P ATX030 Ataxia-Telangiectasia 83 0.026
465
c FNC027 Fanconi Anemia, Complementation Group a 81 0.026
466
SQM013 Squamous Cell Carcinoma, Head and Neck 80 0.026
467
c LKM071 Leukemia, Chronic Lymphocytic 79 0.026
468
CNN003 Conn's Syndrome 79 0.026
469
P LNG064 Lung Cancer Susceptibility 3 77 0.026
470
P MDL005 Medulloblastoma 77 0.026
471
P FML018 Familial Mediterranean Fever 72 0.026
472
P HNT016 Huntington Disease 71 0.026
473
BHC003 Behcet Syndrome 70 0.026
474
CRT072 Creutzfeldt-Jakob Disease 69 0.026
475
MLN008 Melanoma 69 0.026
476
P OCL013 Oculodentodigital Dysplasia 69 0.026
477
P SPR120 Supranuclear Palsy, Progressive, 1 68 0.026
478
BRN024 Bronchitis 68 0.026
479
P ESS003 Essential Thrombocythemia 67 0.026
480
MYL005 Myelofibrosis 67 0.026
481
BRK010 Burkitt Lymphoma 67 0.026
482
P TMP003 Temporal Arteritis 67 0.026
483
CMM004 Common Variable Immunodeficiency 67 0.026
484
PSY004 Psychotic Disorder 67 0.026
485
c FML001 Familial Atrial Fibrillation 66 0.026
486
FCT007 Factor Vii Deficiency 66 0.026
487
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 66 0.026
488
PRP001 Propionic Acidemia 66 0.026
489
CHG001 Chagas Disease 66 0.026
490
P NRV007 Nervous System Disease 66 0.026
491
P MNN013 Meningitis 65 0.026
492
HTC003 Hutchinson-Gilford Progeria Syndrome 65 0.026
493
MYL031 Myeloproliferative Neoplasm 65 0.026
494
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65 0.026
495
BRR014 Barrett Esophagus 64 0.026
496
INC002 Inclusion Body Myositis 64 0.026
497
TTN003 Tetanus 64 0.026
498
P ADN016 Adenocarcinoma 64 0.026
499
IRR002 Irritable Bowel Syndrome 63 0.026
500
DGR001 Digeorge Syndrome 63 0.026
501
LSH001 Leishmaniasis 63 0.026
502
SKN016 Skin Disease 63 0.026
503
c ACT068 Acute Cystitis 63 0.026
504
P HYP069 Hyperparathyroidism 62 0.026
505
P LMY004 Leiomyosarcoma 62 0.026
506
P HML002 Hemolytic Anemia 62 0.026
507
LSC001 Lesch-Nyhan Syndrome 62 0.026
508
P ART067 Aortic Aneurysm, Familial Thoracic 1 62 0.026
509
c ALP101 Alpha-Thalassemia 62 0.026
510
PSR001 Psoriatic Arthritis 62 0.026
511
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 61 0.026
512
TKY002 Takayasu Arteritis 61 0.026
513
DRM006 Dermatitis 61 0.026
514
P ENC004 Encephalitis 61 0.026
515
BRC012 Brucellosis 61 0.026
516
RHM001 Rheumatic Fever 61 0.026
517
P NRM001 Neuromyelitis Optica 60 0.026
518
VRC005 Varicose Veins 60 0.026
519
P ATR010 Atrial Heart Septal Defect 60 0.026
520
ACN002 Acanthosis Nigricans 60 0.026
521
HPT019 Hepatic Encephalopathy 60 0.026
522
MCR013 Microphthalmia 60 0.026
523
INS001 Insulinoma 60 0.026
524
CYS010 Cystinosis 60 0.026
525
ORL011 Oral Cancer 60 0.026
526
HRP004 Herpes Zoster 60 0.026
527
P PGT001 Paget's Disease of Bone 60 0.026
528
CHC001 Chickenpox 60 0.026
529
P SCL018 Scoliosis 60 0.026
530
ANT009 Antithrombin Iii Deficiency 59 0.026
531
c ACT027 Acute Pancreatitis 59 0.026
532
c ACT071 Acute Kidney Failure 59 0.026
533
P PLY014 Polycystic Kidney Disease 59 0.026
534
P CYS018 Cystitis 59 0.026
535
c DNG003 Dengue Disease 59 0.026
536
c HPT016 Hepatitis B 59 0.026
537
FBR047 Fibromyalgia 59 0.026
538
CMP010 Complex Regional Pain Syndrome 58 0.026
539
HYP257 Hypoparathyroidism, Sensorineural Deafness, and Renal Disease 58 0.026
540
P HYP535 Hypogonadotropic Hypogonadism 7 with or Without Anosmia 58 0.026
541
PST028 Post-Traumatic Stress Disorder 58 0.026
542
BRS051 Breast Disease 58 0.026
543
P MCR010 Microcephaly 58 0.026
544
P URT039 Urticaria 58 0.026
545
P MTR012 Mitral Valve Disease 57 0.026
546
MNR012 Meniere Disease 57 0.026
547
DSS009 Disseminated Intravascular Coagulation 57 0.026
548
P DNG005 Dengue Virus 57 0.026
549
BLR008 Bilirubin Metabolic Disorder 57 0.026
550
P PRN023 Prion Disease 57 0.026
551
PLC005 Placental Insufficiency 57 0.026
552
HPT046 Hepatic Veno-Occlusive Disease 56 0.026
553
SCH003 Schizophreniform Disorder 56 0.026
554
CYT008 Cytomegalovirus Infection 56 0.026
555
c LKM060 Leukemia, Acute Lymphoblastic 3 56 0.026
556
P FBR017 Fibrosarcoma 56 0.026
557
ALP097 Alopecia Universalis Congenita 56 0.026
558
INT303 Intracranial Hypertension, Idiopathic 56 0.026
559
BCT022 Bacterial Infectious Disease 56 0.026
560
P MLN007 Male Infertility 56 0.026
561
PTN001 Patent Foramen Ovale 56 0.026
562
FCT006 Factor V Deficiency 56 0.026
563
P MYS005 Myositis 56 0.026
564
CHR177 Chromophobe Renal Cell Carcinoma 56 0.026
565
P HYP838 Hyperlipidemia, Familial Combined, 3 56 0.026
566
PRP030 Purpura 55 0.026
567
TRD006 Tardive Dyskinesia 55 0.026
568
c FML035 Familial Hyperlipidemia 55 0.026
569
c BCT007 Bacterial Meningitis 55 0.026
570
ATR057 Atrioventricular Block 55 0.026
571
c SCN036 Secondary Progressive Multiple Sclerosis 55 0.026
572
c GRV008 Graves Disease 1 55 0.026
573
ORL004 Oral Submucous Fibrosis 55 0.026
574
VSC003 Visceral Leishmaniasis 55 0.026
575
WST005 West Nile Virus 55 0.026
576
PLM010 Pulmonary Edema 55 0.026
577
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 54 0.026
578
HMP005 Hemiplegia 54 0.026
579
PPL022 Papilloma 54 0.026
580
c OPT053 Optic Atrophy 1 54 0.026
581
P LRY044 Larynx Cancer 54 0.026
582
PRC013 Pericarditis 54 0.026
583
c CNT035 Central Nervous System Disease 54 0.026
584
c FNC042 Fanconi Anemia, Complementation Group D2 54 0.026
585
c PST005 Posterior Uveitis 54 0.026
586
P EPD016 Epidermolysis Bullosa 53 0.026
587
c ERY048 Erythrocytosis, Familial, 2 53 0.026
588
ALC009 Alcoholic Liver Cirrhosis 53 0.026
589
MMM001 Mammary Paget's Disease 53 0.026
590
P RCT021 Rectum Cancer 53 0.026
591
KRT009 Keratosis 53 0.026
592
PRN001 Purine Nucleoside Phosphorylase Deficiency 53 0.026
593
P RTN018 Retinal Disease 52 0.026
594
P CTN003 Cutaneous Lupus Erythematosus 52 0.026
595
P SML001 Small Cell Carcinoma 52 0.026
596
GTR002 Goiter 52 0.026
597
DMY004 Demyelinating Disease 52 0.026
598
P INS002 in Situ Carcinoma 52 0.026
599
NVS001 Neovascular Glaucoma 52 0.026
600
OLG003 Oligohydramnios 52 0.026
601
c PSR017 Psoriasis 2 52 0.026
602
PRV004 Periventricular Leukomalacia 51 0.026
603
c VRL010 Viral Hepatitis 51 0.026
604
TLN003 Telangiectasis 51 0.026
605
P PNV001 Panuveitis 51 0.026
606
c HYP739 Hyperlipoproteinemia, Type Iv 51 0.026
607
THR004 Thrombocytosis 51 0.026
608
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 51 0.026
609
c PRM108 Primary Progressive Multiple Sclerosis 51 0.026
610
P PRC012 Pericardial Effusion 51 0.026
611
GSG001 Gas Gangrene 50 0.026
612
AZS001 Azoospermia 50 0.026
613
HYP081 Hypolipoproteinemia 50 0.026
614
IRD001 Iridocyclitis 50 0.026
615
P MMB011 Membranous Nephropathy 50 0.026
616
P MTR003 Mitral Valve Stenosis 50 0.026
617
P TMP001 Temporal Lobe Epilepsy 50 0.026
618
DBT004 Diabetic Polyneuropathy 50 0.026
619
DYS073 Dysphagia 50 0.026
620
c FNC029 Fanconi Anemia, Complementation Group I 50 0.026
621
PRT018 Portal Vein Thrombosis 50 0.026
622
P OVR082 Overgrowth Syndrome 50 0.026
623
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 50 0.026
624
P KRT007 Keratoconus 49 0.026
625
NPH010 Nephrosclerosis 49 0.026
626
c PSR023 Psoriasis 1 49 0.026
627
c BPL002 Bipolar I Disorder 49 0.026
628
DFF035 Diffuse Cutaneous Systemic Sclerosis 48 0.026
629
ENT004 Enthesopathy 48 0.026
630
WTH001 Withdrawal Disorder 48 0.026
631
IGG001 Iga Glomerulonephritis 48 0.026
632
PRS012 Pars Planitis 48 0.026
633
KHN001 Kuhnt-Junius Degeneration 48 0.026
634
FCL012 Facial Paralysis 48 0.026
635
c VRL012 Viral Meningitis 48 0.026
636
SBS004 Substance Dependence 48 0.026
637
ACT084 Acute Stress Disorder 48 0.026
638
DDN006 Duodenitis 48 0.026
639
LPD004 Lipoid Nephrosis 47 0.026
640
DRY001 Dry Eye Syndrome 47 0.026
641
LPT006 Leptin Receptor Deficiency 47 0.026
642
c MTR002 Mitral Valve Insufficiency 47 0.026
643
c LRG017 Large Intestine Cancer 47 0.026
644
MCR018 Microcytic Anemia 47 0.026
645
LYM019 Lymphosarcoma 47 0.026
646
HMP001 Hemopericardium 46 0.026
647
RTN001 Retinal Vasculitis 46 0.026
648
PDT035 Pediatric Systemic Lupus Erythematosus 46 0.026
649
URT010 Ureteral Obstruction 46 0.026
650
GLC084 Glaucoma, Normal Tension 46 0.026
651
DRG013 Drug-Induced Lupus Erythematosus 46 0.026
652
CRV043 Cervical Dystonia 45 0.026
653
CHR466 Chronic Thromboembolic Pulmonary Hypertension 45 0.026
654
PRT011 Protein C Deficiency 45 0.026
655
OLG001 Oligospermia 45 0.026
656
CRB004 Cerebral Artery Occlusion 44 0.026
657
ATN004 Autonomic Neuropathy 44 0.026
658
DBT008 Diabetic Angiopathy 44 0.026
659
SBC016 Subacute Delirium 44 0.026
660
CNN002 Cannabis Abuse 44 0.026
661
DST006 Diastolic Heart Failure 44 0.026
662
CRT015 Carotid Artery Occlusion 44 0.026
663
LRY018 Laryngeal Squamous Cell Carcinoma 44 0.026
664
ATX038 Ataxia and Polyneuropathy, Adult-Onset 44 0.026
665
c RTN047 Retinitis Pigmentosa 18 44 0.026
666
P HYP121 Hypoalphalipoproteinemia 43 0.026
667
HPT004 Hepatic Coma 43 0.026
668
OVR063 Overnutrition 43 0.026
669
P MJR007 Major Affective Disorder 1 43 0.026
670
c HYP272 Hypercholesterolemia, Familial, 3 43 0.026
671
ORG002 Organic Acidemia 43 0.026
672
SQM002 Squamous Cell Papilloma 42 0.026
673
ALC010 Alcoholic Cardiomyopathy 42 0.026
674
PLM184 Pulmonary Arterial Hypertension Associated with Congenital Heart Disease 42 0.026
675
MTH074 Methionine Adenosyltransferase I/iii Deficiency 42 0.026
676
DFF003 Diffuse Scleroderma 42 0.026
677
DBT002 Diabetic Autonomic Neuropathy 41 0.026
678
P KLZ004 Kala-Azar 1 41 0.026
679
c RTN041 Retinitis Pigmentosa 11 41 0.026
680
EXC002 Exocrine Pancreatic Insufficiency 41 0.026
681
ART008 Arteriosclerosis Obliterans 40 0.026
682
ASP030 Aspirin Resistance 40 0.026
683
CRB086 Cerebral Aneurysms 40 0.026
684
ALL014 Allergic Encephalomyelitis 39 0.026
685
GLM044 Glomerular Disease 39 0.026
686
GLY015 Glycine N-Methyltransferase Deficiency 39 0.026
687
LKP003 Leukoplakia 39 0.026
688
FLT009 Folate Malabsorption, Hereditary 39 0.026
690
c PSR028 Psoriasis 7 39 0.026
691
PRP028 Peripheral Vertigo 39 0.026
692
BRS050 Breast Cyst 38 0.026
693
HMR023 Hemorrhagic Cystitis 38 0.026
694
c PSR032 Psoriasis 11 38 0.026
695
c PSR018 Psoriasis 13 38 0.026
696
MST004 Mast Cell Neoplasm 38 0.026
697
ENC005 Encephalomalacia 38 0.026
698
EXT007 Extracutaneous Mastocytoma 38 0.026
699
CRT004 Carotid Artery Thrombosis 38 0.026
700
OVR094 Ovarian Epithelial Cancer 38 0.026
701
c PRG020 Paragangliomas 3 38 0.026
702
CNT060 Central Serous Chorioretinopathy 38 0.026
703
MTH056 Methylmalonic Aciduria and Homocystinuria, Cblf Type 37 0.026
704
PRS025 Presbyopia 37 0.026
705
PLM101 Pulmonary Hypertension, Chronic Thromboembolic, Without Deep Vein Thrombosis 37 0.026
706
HRW001 Hair Whorl 36 0.026
707
ACR062 Acroosteolysis 35 0.026
708
P ANT001 Anterolateral Myocardial Infarction 35 0.026
709
NND010 Nondisjunction 34 0.026
710
PPL052 Papillomatosis, Confluent and Reticulated 34 0.026
711
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 34 0.026
713
c PRS136 Prostate Cancer, Hereditary, 6 33 0.026
714
VRS002 Virus-Associated Trichodysplasia Spinulosa 32 0.026
715
c PRS130 Prostate Cancer, Hereditary, 8 32 0.026
716
c NRM008 Neuromyelitis Optica Spectrum Disorder 31 0.026
717
ALP048 Alopecia Totalis 31 0.026
718
PLY150 Polykaryocytosis Inducer 31 0.026
719
PRC051 Paracetamol Poisoning 30 0.026
720
ISL099 Isolated Methylmalonic Acidemia 30 0.026
721
DSR074 Disorder of Purine Metabolism 29 0.026
722
PST092 Posttransplant Acute Limbic Encephalitis 29 0.026
723
OCC011 Occipital Encephalocele 28 0.026
724
c MYC058 Myocardial Infarction 2 28 0.026
725
HYP814 Hypermethioninemia with S-Adenosylhomocysteine Hydrolase Deficiency 28 0.026
726
PRR019 Perioral Myoclonia with Absences 28 0.026
727
MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 27 0.026
728
ACT162 Acute Sensory Ataxic Neuropathy 26 0.026
729
c CLR079 Colorectal Cancer 2 26 0.026
730
ISL004 Isolated Gonadotropin-Releasing Hormone Deficiency 26 0.026
731
P PRG139 Progeroid Syndrome 26 0.026
732
CRT084 Creatinine Clearance Quantitative Trait Locus 25 0.026
733
MTH040 Methylmalonyl-Coa Epimerase Deficiency 25 0.026
734
ATR055 Atrial Septal Aneurysm 25 0.026
735
c CRN214 Coronary Heart Disease 5 24 0.026
736
PLM015 Pulmonary Systemic Sclerosis 24 0.026
737
CRB005 Cerebral Arteritis 24 0.026
738
ORF053 Orofacial Clefting Syndrome 22 0.026
739
CRB087 Cerebral Arteriosclerosis 22 0.026
740
c CLR082 Colorectal Cancer 7 21 0.026
741
PLM124 Pulmonary Hypertension, Neonatal 20 0.026
742
c CRN174 Coronary Heart Disease 2 19 0.026
743
PRP107 Peripheral Hypothyroidism 19 0.026
744
MTH011 Methionine Adenosyltransferase Deficiency 18 0.026
745
MTH068 Methylmalonic Aciduria, Transient, Due to Transcobalamin Receptor Defect 18 0.026
746
P PLT029 Platelet Groups--Ko System 16 0.026
747
P VTM031 Vitamin B12 Plasma Level Quantitative Trait Locus 1 13 0.026
748
c VTM032 Vitamin B6 Plasma Level Quantitative Trait Locus 1 7 0.026
Content
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