Search results for MTHFR

643 hits were found for MTHFR

# Family MCID Name MIFTS Score
1
HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 48 18.941
2
MTH081 Mthfr Gene Variant 14 6.602
3
NRL016 Neural Tube Defects 82 4.077
4
NRL018 Neural Tube Defects, Folate-Sensitive 48 3.685
5
HMC014 Homocysteinemia 53 3.327
6
P SCH015 Schizophrenia 74 3.325
7
P CLR023 Colorectal Cancer 99 3.223
8
c THR092 Thrombophilia Due to Thrombin Defect 73 3.071
9
P VSC007 Vascular Disease 63 3.044
10
P GST053 Gastric Cancer 83 2.583
11
P LKM002 Leukemia 68 2.576
12
c ACT073 Acute Leukemia 58 2.552
13
THR024 Thrombosis 57 2.456
14
P HMC002 Homocystinuria 53 2.440
15
P BRS047 Breast Cancer 97 2.429
16
P HRT032 Heart Disease 75 2.368
17
P BPL003 Bipolar Disorder 56 2.301
18
P LKM062 Leukemia, Acute Lymphoblastic 69 2.277
19
MYL020 Myelomeningocele 51 2.264
20
P THR015 Thrombophilia 51 2.260
21
CLF001 Cleft Lip 53 2.242
22
NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 57 2.204
23
ANN002 Anencephaly 56 2.204
24
STR067 Stroke, Ischemic 81 2.180
25
CLF027 Cleft Palate, Isolated 64 2.174
26
P MLN007 Male Infertility 55 2.174
27
c PRC016 Pre-Eclampsia 63 2.147
28
DWN001 Down Syndrome 70 2.136
29
CRB039 Cerebrovascular Disease 67 2.078
30
P RHM011 Rheumatoid Arthritis 80 2.071
31
P MYC007 Myocardial Infarction 70 2.064
32
P KDN018 Kidney Disease 72 2.049
33
P RTN022 Retinal Vein Occlusion 53 2.033
34
VSC002 Vascular Dementia 57 2.025
35
ESP021 Esophageal Cancer 90 2.016
36
VTM002 Vitamin B12 Deficiency 48 2.007
37
PLM033 Pulmonary Embolism 59 1.997
38
c CHR684 Chronic Kidney Disease 70 1.987
39
P DBT009 Diabetes Mellitus 64 1.987
40
PLC007 Placental Abruption 48 1.987
41
c CNT016 Central Retinal Vein Occlusion 53 1.977
42
BDD001 Budd-Chiari Syndrome 63 1.966
43
P ANT006 Antiphospholipid Syndrome 55 1.966
44
P ECL001 Eclampsia 50 1.954
45
P EPL164 Epilepsy 71 1.942
46
RBF001 Riboflavin Deficiency 49 1.928
47
PRT014 Protein S Deficiency 44 1.928
48
PRT011 Protein C Deficiency 44 1.913
49
HLL004 Hellp Syndrome 54 1.896
50
c MGR028 Migraine with or Without Aura 1 67 1.877
51
P CRN300 Coronary Heart Disease 1 63 1.836
52
P MGR003 Migraine with Aura 52 1.820
53
P CRD246 Cardiovascular System Disease 57 1.802
54
CHL152 Childhood Acute Lymphocytic Leukemia 44 1.784
55
c HYP595 Hypertension, Essential 84 1.737
56
P MJR001 Major Depressive Disorder 68 1.737
57
CRV035 Cervical Cancer 76 1.721
58
CLR108 Colorectal Adenoma 64 1.721
59
P MGR001 Migraine Without Aura 49 1.721
60
P ATS364 Autism 70 1.705
61
ATH013 Atherosclerosis Susceptibility 65 1.705
62
MCS002 Mucositis 56 1.705
63
c ATS007 Autism Spectrum Disorder 67 1.688
64
P OST002 Osteoporosis 74 1.679
65
PLC008 Placenta Disease 50 1.679
66
CRV045 Cervical Intraepithelial Neoplasia 39 1.679
67
P OPN001 Open-Angle Glaucoma 49 1.670
68
PRT018 Portal Vein Thrombosis 50 1.639
69
P TRN020 Turner Syndrome 67 1.627
70
TRN015 Transient Cerebral Ischemia 63 1.627
71
VRC005 Varicose Veins 60 1.627
72
GST019 Gastrointestinal Stromal Tumor 78 1.614
73
SCK003 Sickle Cell Anemia 74 1.614
74
EXF001 Exfoliation Syndrome 56 1.614
75
P INF037 Inflammatory Bowel Disease 54 1.614
76
CHL061 Childhood Leukemia 48 1.614
77
GST029 Gastric Cardia Adenocarcinoma 31 1.614
78
PRP027 Peripheral Vascular Disease 71 1.601
79
OST003 Osteonecrosis 61 1.601
80
CRT013 Carotid Stenosis 50 1.601
81
c ADL052 Adult Acute Lymphocytic Leukemia 47 1.601
82
P RTN014 Retinal Artery Occlusion 47 1.601
83
BRN026 Branch Retinal Artery Occlusion 40 1.601
84
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 90 1.585
85
P LYN001 Lynch Syndrome 77 1.585
86
P TTR001 Tetralogy of Fallot 70 1.585
87
P ESS003 Essential Thrombocythemia 68 1.585
88
P HYD006 Hydrocephalus 66 1.585
89
P ATT013 Attention Deficit-Hyperactivity Disorder 65 1.585
90
NTR005 Nutritional Deficiency Disease 62 1.585
91
PTN001 Patent Foramen Ovale 60 1.585
92
P CTR002 Cataract 60 1.585
93
HYP014 Hyperuricemia 52 1.585
94
CLB002 Clubfoot 51 1.585
95
NPH010 Nephrosclerosis 50 1.585
96
RTN020 Retinal Vascular Disease 46 1.585
97
PRM024 Primary Angle-Closure Glaucoma 40 1.585
98
PDT021 Pediatric Osteosarcoma 33 1.585
99
MRF001 Marfan Syndrome 77 1.568
100
CRB037 Cerebral Palsy 69 1.568
101
P THR014 Thrombocytopenia 67 1.568
102
PSY004 Psychotic Disorder 67 1.568
103
TBC004 Tobacco Addiction 64 1.568
104
P SNS001 Sensorineural Hearing Loss 60 1.568
105
P ALC033 Alcohol Use Disorder 58 1.568
106
P VNS003 Venous Insufficiency 55 1.568
107
GST009 Gastroschisis 53 1.568
108
MYL001 Myelitis 51 1.568
109
THR016 Thrombophlebitis 51 1.568
110
SCH012 Schizoaffective Disorder 50 1.568
111
VRC001 Varicocele 49 1.568
112
INT078 Intracranial Thrombosis 49 1.568
113
P VND001 Vein Disease 42 1.568
114
MLT001 Multiple Chemical Sensitivity 40 1.568
115
LNS001 Lens Subluxation 38 1.568
116
ART110 Arteritic Anterior Ischemic Optic Neuropathy 33 1.568
117
c FNC027 Fanconi Anemia, Complementation Group a 81 1.548
118
PHN003 Phenylketonuria 75 1.548
119
P GLY013 Glycogen Storage Disease 60 1.548
120
ANT009 Antithrombin Iii Deficiency 59 1.548
121
BRG013 Buerger Disease 58 1.548
122
SML019 Smallpox 56 1.548
123
INT075 Intracranial Hypertension 53 1.548
124
MGL001 Megaloblastic Anemia 51 1.548
125
P OMP004 Omphalocele 50 1.548
126
P PRN026 Porencephaly 48 1.548
127
CRB008 Cerebral Atherosclerosis 44 1.548
128
ENC005 Encephalomalacia 43 1.548
129
GST105 Gastroesophageal Adenocarcinoma 42 1.548
130
LMR001 Lemierre's Syndrome 42 1.548
131
CRD005 Cardia Cancer 40 1.548
132
SPN221 Spina Bifida Occulta 39 1.548
133
GLY015 Glycine N-Methyltransferase Deficiency 39 1.548
134
MTH086 Methotrexate Toxicity 33 1.233
135
NND010 Nondisjunction 34 1.187
137
c THR082 Thrombophilia Due to Activated Protein C Resistance 61 1.174
138
P ORF002 Orofacial Cleft 44 1.174
139
P PRG092 Pregnancy Loss, Recurrent 1 40 1.174
140
LVD003 Livedoid Vasculitis 36 1.159
141
NNT024 Neonatal Stroke 34 1.159
142
CRB132 Cerebral Sinovenous Thrombosis 33 1.141
143
P ATR010 Atrial Heart Septal Defect 60 1.121
144
DFF036 Differentiated Thyroid Carcinoma 52 1.121
145
c INH020 Inherited Metabolic Disorder 47 1.121
146
P BLD051 Blood Coagulation Disease 46 1.121
147
RTN021 Retinal Vascular Occlusion 44 1.121
148
SDD008 Sudden Sensorineural Hearing Loss 43 1.121
149
THR035 Thrombasthenia 40 1.121
150
CRY036 Cryptogenic Cirrhosis 36 1.121
151
FTL073 Fetal Anticonvulsant Syndrome 26 1.121
152
PST047 Post-Traumatic Epilepsy 22 1.121
153
CRV062 Cervical Spina Bifida Cystica 19 1.121
154
CRV063 Cervical Spina Bifida Aperta 18 1.121
155
LMB056 Lumbosacral Spina Bifida Cystica 18 1.121
156
LMB057 Lumbosacral Spina Bifida Aperta 18 1.121
157
CRV061 Cervicothoracic Spina Bifida Cystica 17 1.121
158
CRV064 Cervicothoracic Spina Bifida Aperta 17 1.121
159
c TTL008 Total Spina Bifida Cystica 17 1.121
160
c TTL009 Total Spina Bifida Aperta 17 1.121
161
THR084 Thoracolumbosacral Spina Bifida Cystica 17 1.121
162
THR085 Thoracolumbosacral Spina Bifida Aperta 17 1.121
163
UPP007 Upper Thoracic Spina Bifida Cystica 17 1.121
164
UPP008 Upper Thoracic Spina Bifida Aperta 17 1.121
165
ISL155 Isolated Anencephaly 11 1.121
166
ISL154 Isolated Exencephaly 10 1.121
167
BHC003 Behcet Syndrome 71 1.095
168
P MYM013 Moyamoya Disease 1 57 1.095
169
SCH018 Schizencephaly 52 1.095
170
P MTH008 Methylmalonic Acidemia 50 1.095
171
P CLR037 Colorectal Cancer, Hereditary Nonpolyposis, Type 5 49 1.095
172
DBT008 Diabetic Angiopathy 44 1.095
173
MST019 Mastoiditis 43 1.095
174
c CNT028 Central Retinal Artery Occlusion 43 1.095
175
PHY002 Physical Disorder 42 1.095
176
CTS005 Catastrophic Antiphospholipid Syndrome 42 1.095
177
AMN002 Amino Acid Metabolic Disorder 39 1.095
178
CHL045 Choline Deficiency Disease 39 1.095
179
c MCR122 Microphthalmia, Isolated 5 39 1.095
180
BLD054 Blood Protein Disease 38 1.095
181
P HMF004 Hemifacial Spasm 38 1.095
182
AMR003 Amaurosis Fugax 34 1.095
183
PLM180 Pulmonary Artery Disease 33 1.095
184
c INH004 Inherited Blood Coagulation Disease 30 1.095
185
INT076 Intracranial Sinus Thrombosis 29 1.095
186
LTR002 Lateral Sinus Thrombosis 29 1.095
187
SPN185 Spinal Cord Infarction 28 1.095
188
MSN003 Mesenteric Vascular Occlusion 27 1.095
189
P VTM003 Vitamin Metabolic Disorder 24 1.095
190
c ATM013 Autoimmune Disease of Cardiovascular System 24 1.095
191
GST041 Gastric Cardia Carcinoma 20 1.095
192
P INF032 Infertility 57 0.200
193
LPP008 Lipoprotein Quantitative Trait Locus 62 0.192
194
P HYP724 Hyperlipoproteinemia, Type Iii 73 0.189
195
ART140 Arteries, Anomalies of 52 0.181
196
c MCR113 Microvascular Complications of Diabetes 3 52 0.163
197
CLF056 Cleft Lip with or Without Cleft Palate 47 0.163
198
c MCR120 Microvascular Complications of Diabetes 7 47 0.163
199
c MCR130 Microvascular Complications of Diabetes 6 41 0.163
200
c MCR133 Microvascular Complications of Diabetes 4 41 0.163
201
DPR016 Depression 63 0.143
202
MNT002 Mental Depression 58 0.136
203
LPD008 Lipid Metabolism Disorder 62 0.128
204
CLF004 Cleft Lip/palate 54 0.128
205
P OVR042 Ovarian Cancer 88 0.120
206
P MCR115 Microvascular Complications of Diabetes 5 66 0.120
207
SQM006 Squamous Cell Carcinoma 60 0.120
208
ADN018 Adenoma 59 0.115
209
LVR012 Liver Cirrhosis 62 0.111
210
P MYL006 Myeloid Leukemia 60 0.111
211
P HPT023 Hepatocellular Carcinoma 100 0.106
212
INT323 Intraocular Pressure Quantitative Trait Locus 62 0.106
213
P SCK005 Sickle Cell Disease 50 0.106
214
END086 End Stage Renal Disease 51 0.101
215
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.101
216
c CRV002 Cervix Uteri Carcinoma in Situ 46 0.101
217
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 42 0.101
218
CHR178 Chromosomal Triplication 35 0.101
219
P ALZ034 Alzheimer Disease 88 0.096
220
P BLD134 Bladder Cancer 79 0.096
221
c GLC092 Glaucoma, Primary Open Angle 62 0.096
222
P NRP001 Neuropathy 56 0.096
223
P RCT021 Rectum Cancer 52 0.096
224
c MJR024 Major Affective Disorder 9 41 0.096
225
c MJR022 Major Affective Disorder 8 38 0.096
226
P ADN016 Adenocarcinoma 64 0.091
227
P PSR002 Psoriasis 62 0.091
228
ORL011 Oral Cancer 60 0.091
229
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 0.091
230
P PLY011 Polycystic Ovary Syndrome 56 0.091
231
PST011 Pustulosis of Palm and Sole 52 0.091
232
c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 0.091
233
c LKM061 Leukemia, Acute Myeloid 84 0.085
234
c LKM063 Leukemia, Chronic Myeloid 72 0.085
235
ALC007 Alcohol Dependence 66 0.085
236
FTT001 Fatty Liver Disease 61 0.085
237
THY029 Thyroid Carcinoma 59 0.085
238
MYL069 Myeloma, Multiple 85 0.078
239
P PNC035 Pancreatic Cancer 84 0.078
240
c MNN043 Meningioma, Familial 74 0.078
241
LYM143 Lymphoma, Non-Hodgkin, Familial 72 0.078
242
LYM133 Lymphoma, Hodgkin, Classic 69 0.078
243
P LVR013 Liver Disease 68 0.078
244
OST159 Osteogenic Sarcoma 66 0.078
245
MNN042 Meningioma, Radiation-Induced 62 0.078
246
ISC004 Ischemia 58 0.078
247
P HDC001 Headache 57 0.078
248
SPN021 Spinal Meningioma 50 0.078
249
AZS001 Azoospermia 50 0.078
250
SCR001 Secretory Meningioma 41 0.078
251
LYM002 Lymphoplasmacyte-Rich Meningioma 36 0.078
252
P LNG032 Lung Cancer 98 0.072
253
P MLT020 Multiple Sclerosis 72 0.072
254
P HYP086 Hypothyroidism 69 0.072
255
ART016 Aortic Aneurysm 69 0.072
256
P LYM118 Lymphoma 68 0.072
257
P NTR004 Neutropenia 63 0.072
258
ATM095 Autoimmune Disease 62 0.072
259
NNL005 Non-Alcoholic Fatty Liver Disease 61 0.072
260
c ART138 Aortic Aneurysm, Familial Abdominal, 1 59 0.072
261
P PRP019 Peripheral Nervous System Disease 58 0.072
262
c ACT075 Acute Myocardial Infarction 57 0.072
263
DBT010 Diabetic Neuropathy 54 0.072
264
HRT011 Heart Septal Defect 50 0.072
265
c SPR009 Sporadic Breast Cancer 45 0.072
266
P RTN024 Retinoblastoma 73 0.064
267
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.064
268
P GLM045 Glioma 63 0.064
269
HYP066 Hyperglycemia 61 0.064
270
P ENC018 Encephalopathy 61 0.064
271
GST033 Gestational Diabetes 61 0.064
272
P VNT002 Ventricular Septal Defect 60 0.064
273
P THL005 Thalassemia 60 0.064
274
P BCL017 B-Cell Lymphoma 58 0.064
275
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 57 0.064
276
DFF005 Diffuse Large B-Cell Lymphoma 55 0.064
277
P ART021 Arteriosclerosis 54 0.064
278
LYM040 Lymphoblastic Lymphoma 54 0.064
279
c FML008 Familial Retinoblastoma 53 0.064
280
THY030 Thyroid Gland Disease 52 0.064
281
ATS010 Autosomal Recessive Disease 48 0.064
282
GLL048 Glial Tumor 45 0.064
283
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.064
284
ORL015 Oral Squamous Cell Carcinoma 43 0.064
285
48X005 48,xyyy 39 0.064
286
P PRS040 Prostate Cancer 97 0.055
287
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.055
288
c SYS001 Systemic Lupus Erythematosus 86 0.055
289
P LKM071 Leukemia, Chronic Lymphocytic 79 0.055
290
P BDY004 Body Mass Index Quantitative Trait Locus 11 76 0.055
291
GLB015 Glioblastoma Multiforme 75 0.055
292
END057 Endometrial Cancer 74 0.055
293
c HYP836 Hypercholesterolemia, Familial, 1 73 0.055
294
P DMN002 Dementia 66 0.055
295
MDD011 Mood Disorder 62 0.055
296
P OPT006 Optic Nerve Disease 60 0.055
297
P MCR010 Microcephaly 59 0.055
298
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.055
299
P PLY018 Polycythemia 56 0.055
300
TRN018 Transitional Cell Carcinoma 56 0.055
301
P DRR001 Diarrhea 55 0.055
302
END040 Endogenous Depression 55 0.055
303
PYD001 Pyoderma Gangrenosum 54 0.055
304
P LTR001 Lateral Sclerosis 54 0.055
305
c BDY021 Body Mass Index Quantitative Trait Locus 20 52 0.055
306
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.055
307
PYD002 Pyoderma 50 0.055
308
PPL021 Papilledema 49 0.055
309
47X002 47,xyy 49 0.055
310
P GND004 Gonadal Dysgenesis 48 0.055
311
c BDY005 Body Mass Index Quantitative Trait Locus 9 48 0.055
312
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.055
313
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.055
314
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.055
315
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.055
316
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.055
317
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.055
318
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.055
319
P AVS003 Avascular Necrosis 42 0.055
320
SPS019 Spastic Paraparesis 38 0.055
321
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 0.055
323
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 0.045
324
RNL114 Renal Cell Carcinoma, Nonpapillary 78 0.045
325
P LNG064 Lung Cancer Susceptibility 3 78 0.045
326
c BTT014 Beta-Thalassemia 74 0.045
327
CRH001 Crohn's Disease 74 0.045
328
ULC004 Ulcerative Colitis 73 0.045
329
c SPN225 Spondyloarthropathy 1 73 0.045
330
P HNT016 Huntington Disease 72 0.045
331
c EXD008 Exudative Vitreoretinopathy 1 71 0.045
332
PLY001 Polycythemia Vera 69 0.045
333
CHL065 Cholangiocarcinoma 68 0.045
334
c BSL007 Basal Cell Carcinoma 68 0.045
335
P FLL037 Follicular Lymphoma 67 0.045
336
P CLC063 Celiac Disease 1 66 0.045
337
c MCR129 Microvascular Complications of Diabetes 1 66 0.045
338
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.045
339
c JVN010 Juvenile Rheumatoid Arthritis 64 0.045
340
P HYP069 Hyperparathyroidism 63 0.045
341
P HYP750 Hypertriglyceridemia, Familial 62 0.045
342
P VSC011 Vasculitis 62 0.045
343
P LPS004 Lupus Erythematosus 61 0.045
344
c JVN061 Juvenile Arthritis 60 0.045
345
P PTN014 Patent Ductus Arteriosus 1 60 0.045
346
VSL002 Visual Epilepsy 59 0.045
347
HLC007 Helicobacter Pylori Infection 59 0.045
348
P ANP001 Anaplastic Large Cell Lymphoma 58 0.045
349
P GLL018 Gallbladder Cancer 57 0.045
350
IRN002 Iron Metabolism Disease 57 0.045
351
BLR008 Bilirubin Metabolic Disorder 57 0.045
352
LNG111 Lung Non-Squamous Non-Small Cell Carcinoma 56 0.045
353
c LKM060 Leukemia, Acute Lymphoblastic 3 56 0.045
354
P SZR006 Seizure Disorder 56 0.045
355
HMG005 Hemoglobinopathy 56 0.045
356
P PLY019 Polyneuropathy 56 0.045
357
P GRV001 Graves' Disease 55 0.045
358
PPL022 Papilloma 54 0.045
359
P LCH002 Lichen Planus 53 0.045
360
P CNT005 Central Nervous System Lymphoma 53 0.045
361
TXC002 Toxic Encephalopathy 53 0.045
362
IMP005 Impotence 52 0.045
363
CLR109 Colorectal Adenocarcinoma 51 0.045
364
INT079 Intrahepatic Cholangiocarcinoma 51 0.045
365
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.045
366
ACT017 Acute Chest Syndrome 51 0.045
367
PST021 Postpartum Depression 50 0.045
368
c SVR005 Severe Pre-Eclampsia 50 0.045
369
DBT004 Diabetic Polyneuropathy 49 0.045
370
LRN003 Learning Disability 49 0.045
371
c PRM226 Primary Central Nervous System Lymphoma 48 0.045
372
PRP007 Priapism 47 0.045
373
P ENC008 Encephalocele 47 0.045
374
LYM019 Lymphosarcoma 46 0.045
375
ASP004 Asphyxia Neonatorum 46 0.045
376
SQM002 Squamous Cell Papilloma 46 0.045
377
OLG001 Oligospermia 45 0.045
378
SPS057 Spasticity 45 0.045
379
c MCR112 Microvascular Complications of Diabetes 2 41 0.045
380
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 38 0.045
381
OLG022 Oligoasthenoteratozoospermia 36 0.045
382
c LNG109 Lung Cancer Susceptibility 1 27 0.045
383
P SPN237 Spina Bifida Aperta 20 0.045
384
P ATX030 Ataxia-Telangiectasia 82 0.032
385
c DLT002 Dilated Cardiomyopathy 79 0.032
386
P RTN008 Retinitis Pigmentosa 79 0.032
387
OST012 Osteoarthritis 78 0.032
388
P PRK057 Parkinson Disease, Late-Onset 78 0.032
389
c TBR025 Tuberous Sclerosis 1 77 0.032
390
c ATR087 Atrial Standstill 1 75 0.032
391
P RSP003 Respiratory Failure 74 0.032
392
LPT014 Leptin Deficiency or Dysfunction 74 0.032
393
c HMC039 Hemochromatosis, Type 1 74 0.032
394
P NJM001 Nijmegen Breakage Syndrome 74 0.032
395
SVR004 Severe Combined Immunodeficiency 73 0.032
396
P FML018 Familial Mediterranean Fever 73 0.032
397
XRD010 Xeroderma Pigmentosum, Variant Type 73 0.032
398
ANX010 Anxiety 73 0.032
399
c TBR026 Tuberous Sclerosis 2 72 0.032
400
c HPT073 Hepatitis C Virus 72 0.032
401
P NRB001 Neuroblastoma 72 0.032
402
P FML011 Familial Adenomatous Polyposis 72 0.032
403
ACR007 Acromegaly 71 0.032
404
WLS001 Wilson Disease 71 0.032
405
DFC004 Deficiency Anemia 70 0.032
406
MYL009 Myelodysplastic Syndrome 70 0.032
407
c GCH015 Gaucher Disease, Type I 70 0.032
408
c CRB175 Cerebral Arteriopathy, Autosomal Dominant, with Subcortical Infarcts and Leukoencephalopathy, Type 1 70 0.032
409
P HYP061 Hypertrophic Cardiomyopathy 70 0.032
410
P MYP004 Myopathy 70 0.032
411
CNG034 Congestive Heart Failure 69 0.032
412
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69 0.032
413
P MLN008 Melanoma 69 0.032
414
P ANG001 Angelman Syndrome 69 0.032
415
P SYS005 Systemic Scleroderma 68 0.032
416
PNC129 Pancreatic Adenocarcinoma 68 0.032
417
P OLG002 Oligodendroglioma 67 0.032
418
BRK010 Burkitt Lymphoma 67 0.032
419
P HYP098 Hypereosinophilic Syndrome 67 0.032
420
P PLM037 Pulmonary Hypertension 67 0.032
421
c PRM196 Premature Ovarian Failure 1 67 0.032
422
ANG054 Angina Pectoris 66 0.032
423
GLL008 Gilles De La Tourette Syndrome 66 0.032
424
c FML021 Familial Hypercholesterolemia 66 0.032
425
GLN010 Glanzmann Thrombasthenia 66 0.032
426
P SKN015 Skin Carcinoma 66 0.032
427
ART001 Arterial Tortuosity Syndrome 66 0.032
428
AND002 Androgen Insensitivity Syndrome 66 0.032
429
P DRM053 Dermatitis, Atopic 66 0.032
430
MYL031 Myeloproliferative Neoplasm 66 0.032
431
c SML038 Small Cell Cancer of the Lung 65 0.032
432
P VNW001 Von Willebrand's Disease 65 0.032
433
P PSD087 Pseudoxanthoma Elasticum 65 0.032
434
BRR014 Barrett Esophagus 65 0.032
435
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.032
436
c ATS347 Autosomal Dominant Polycystic Kidney Disease 65 0.032
437
LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 64 0.032
438
OVR029 Ovarian Hyperstimulation Syndrome 64 0.032
439
BRC012 Brucellosis 64 0.032
440
DGR001 Digeorge Syndrome 64 0.032
441
P GCH001 Gaucher's Disease 63 0.032
442
P ANR048 Aniridia 1 63 0.032
443
ANR007 Anorexia Nervosa 63 0.032
444
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 62 0.032
445
c ALP101 Alpha-Thalassemia 62 0.032
446
HMT002 Hematologic Cancer 62 0.032
447
ERL001 Early Myoclonic Encephalopathy 62 0.032
448
c HPT001 Hepatitis C 62 0.032
449
P PLY014 Polycystic Kidney Disease 62 0.032
450
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 0.032
451
TKY002 Takayasu Arteritis 62 0.032
452
P EPL198 Epilepsy, Myoclonic Juvenile 62 0.032
453
P TRC086 Trichohepatoenteric Syndrome 1 62 0.032
454
HYD038 Hydrops Fetalis, Nonimmune 62 0.032
455
BRS099 Breast Ductal Carcinoma 62 0.032
456
BLD131 Bladder Urothelial Carcinoma 62 0.032
457
PSR001 Psoriatic Arthritis 61 0.032
458
DRM006 Dermatitis 61 0.032
459
WST001 West Syndrome 61 0.032
460
TMT001 Timothy Syndrome 61 0.032
461
c WLM018 Wilms Tumor 5 61 0.032
462
P PNC044 Pancreatitis 61 0.032
463
P SJG008 Sjogren Syndrome 61 0.032
464
P ATS308 Autosomal Dominant Cerebellar Ataxia 60 0.032
465
ACN002 Acanthosis Nigricans 60 0.032
466
LGG001 Legg-Calve-Perthes Disease 60 0.032
467
LBR030 Leber Optic Atrophy 60 0.032
468
RHM001 Rheumatic Fever 60 0.032
469
CHC001 Chickenpox 60 0.032
470
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 60 0.032
471
STT001 Status Epilepticus 60 0.032
472
c HRD002 Hereditary Angioedema 60 0.032
473
SPP011 Suppression of Tumorigenicity 12 59 0.032
474
P MYC008 Myocarditis 59 0.032
475
P AXN002 Axenfeld-Rieger Syndrome 59 0.032
476
P BND020 Bone Disease 59 0.032
477
IGR001 Ige Responsiveness, Atopic 59 0.032
478
IRN001 Iron Deficiency Anemia 59 0.032
479
ANR040 Aneurysm 59 0.032
480
c SPN301 Spinocerebellar Ataxia 2 58 0.032
481
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.032
482
c PTT056 Pituitary Adenoma 1, Multiple Types 58 0.032
483
P EHL001 Ehlers-Danlos Syndrome 58 0.032
484
EYD002 Eye Disease 58 0.032
485
CNS004 Constipation 58 0.032
486
P GLM007 Glomerulonephritis 57 0.032
487
CHL067 Cholecystitis 57 0.032
488
P EXN002 Exanthem 57 0.032
489
APH001 Aphthous Stomatitis 57 0.032
490
P PRV006 Pervasive Developmental Disorder 57 0.032
491
TNS005 Tonsillitis 57 0.032
492
APH002 Aphasia 57 0.032
493
GLT035 Glutaric Acidemia I 57 0.032
494
CYT008 Cytomegalovirus Infection 57 0.032
495
P ANG015 Angioedema 57 0.032
496
PLS011 Plasmacytoma 56 0.032
497
SCH003 Schizophreniform Disorder 56 0.032
498
P ISL078 Isolated Ectopia Lentis 56 0.032
499
P NRF002 Neurofibromatosis 56 0.032
500
P HYP024 Hypoparathyroidism 56 0.032
501
c GRV008 Graves Disease 1 56 0.032
502
P GST044 Gastritis 56 0.032
503
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 55 0.032
504
P STR020 Strabismus 55 0.032
505
P HYP076 Hyperthyroidism 55 0.032
506
P ALP106 Alport Syndrome 1, X-Linked 55 0.032
507
HMP005 Hemiplegia 55 0.032
508
INT007 Intermediate Coronary Syndrome 55 0.032
509
P ALP008 Alopecia 54 0.032
510
FCL014 Focal Epilepsy 54 0.032
511
P ICH004 Ichthyosis 54 0.032
512
THR013 Thoracic Outlet Syndrome 54 0.032
513
AMN001 Amenorrhea 54 0.032
514
P TRM003 Tremor 54 0.032
515
PRS045 Prostatic Hypertrophy 53 0.032
516
CLR030 Clear Cell Renal Cell Carcinoma 53 0.032
517
RHM028 Rheumatic Heart Disease 53 0.032
518
CRH005 Crohn's Colitis 53 0.032
519
P RTN016 Retinal Degeneration 53 0.032
520
OCL006 Ocular Hypertension 53 0.032
521
GSG001 Gas Gangrene 53 0.032
522
NRT001 Neurotic Disorder 53 0.032
523
PRN011 Pernicious Anemia 53 0.032
524
PRP080 Peripheral Artery Disease 53 0.032
525
c GLL024 Gallbladder Disease 1 53 0.032
526
c VRL010 Viral Hepatitis 52 0.032
527
P THY032 Thyroiditis 52 0.032
528
ART074 Aortic Dissection 52 0.032
529
MYC080 Myoclonic Epilepsy of Unverricht and Lundborg 52 0.032
530
SPN051 Spondylitis 51 0.032
531
THR004 Thrombocytosis 51 0.032
532
LYM004 Lymphoid Interstitial Pneumonia 51 0.032
533
P SPP010 Suppressor of Tumorigenicity 3 51 0.032
534
PRS021 Prostatic Adenoma 51 0.032
535
FDL002 Food Allergy 51 0.032
536
ALK024 Alkuraya-Kucinskas Syndrome 51 0.032
537
P LCT001 Lactic Acidosis 51 0.032
538
P HYP040 Hypospadias 51 0.032
539
HYP781 Hypoascorbemia 51 0.032
540
LPD016 Lipoid Proteinosis of Urbach and Wiethe 50 0.032
541
RSP006 Respiratory System Disease 50 0.032
542
STM007 Stomatitis 50 0.032
543
ECT026 Ectopic Pregnancy 50 0.032
544
PRN009 Paranoid Schizophrenia 50 0.032
545
HMG002 Hemoglobinuria 50 0.032
546
HYP748 Hypertelorism 50 0.032
547
c ORF040 Orofaciodigital Syndrome Viii 50 0.032
548
P ATR005 Atrophic Gastritis 50 0.032
549
P CRV039 Cervicitis 49 0.032
550
c CHR431 Chronic Venous Insufficiency 49 0.032
551
P MTC133 Mitochondrial Myopathy 49 0.032
552
CHL004 Cholelithiasis 49 0.032
553
c BPL002 Bipolar I Disorder 49 0.032
554
BNR002 Bone Resorption Disease 48 0.032
555
HYP043 Hyperandrogenism 48 0.032
556
CCN001 Cocaine Dependence 48 0.032
557
BLT006 Bilateral Breast Cancer 48 0.032
558
END062 Endometrial Hyperplasia 48 0.032
559
SXL003 Sexual Disorder 47 0.032
560
c MLG069 Malignant Hypertension 47 0.032
561
CRN017 Coronary Thrombosis 47 0.032
562
RTC005 Reticulosarcoma 47 0.032
563
KHN001 Kuhnt-Junius Degeneration 47 0.032
564
c CNG216 Congenital Hydrocephalus 47 0.032
565
ANV001 Anovulation 47 0.032
566
RTN023 Retinitis 46 0.032
567
c ACT076 Acute Myocarditis 46 0.032
568
c ACQ010 Acquired Polycythemia 46 0.032
569
CLN045 Colonic Benign Neoplasm 46 0.032
570
EXS001 Exostosis 46 0.032
571
P BNG032 Benign Mesothelioma 46 0.032
572
P MYC033 Myoclonus 46 0.032
573
c DRR009 Diarrhea 6 46 0.032
574
c MLG068 Malignant Glioma 46 0.032
575
SYN036 Syncope 45 0.032
576
ORL013 Oral Lichen Planus 45 0.032
577
CRB004 Cerebral Artery Occlusion 45 0.032
579
EXS017 Exstrophy of Bladder 45 0.032
580
P END084 Endocrine System Disease 45 0.032
581
c SPR086 Spermatogenic Failure 3 44 0.032
582
P HYP265 Hypotonia 43 0.032
583
MCR103 Microtia 43 0.032
584
P CLS010 Cluster Headache 42 0.032
585
c BDY007 Body Mass Index Quantitative Trait Locus 1 42 0.032
586
ATX019 Ataxia with Vitamin E Deficiency 42 0.032
587
c MLG079 Malignant Pleural Mesothelioma 42 0.032
588
NRR001 Neuroretinitis 42 0.032
589
MCH006 Mechanical Strabismus 42 0.032
590
BLD129 Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex 41 0.032
591
DBT002 Diabetic Autonomic Neuropathy 41 0.032
592
GCH018 Gaucher Disease, Perinatal Lethal 41 0.032
593
P RRT020 Rare Tumor 41 0.032
594
HPR006 Heparin Cofactor Ii Deficiency 40 0.032
595
EPL001 Epilepsy with Generalized Tonic-Clonic Seizures 40 0.032
596
c HMG001 Hemoglobin C Disease 40 0.032
597
c EXS020 Exostoses, Multiple, Type Ii 40 0.032
598
P MNN007 Meningocele 39 0.032
599
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.032
600
SPL006 Splenic Infarction 38 0.032
601
MTH055 Methylmalonic Aciduria and Homocystinuria, Cbld Type 38 0.032
602
HYP264 Hypertonia 38 0.032
603
SPN331 Spondyloocular Syndrome 36 0.032
604
P HRD217 Hereditary Optic Neuropathy 36 0.032
605
PRS011 Persian Gulf Syndrome 36 0.032
606
ABD010 Abdominal Wall Defect 36 0.032
607
P AXN001 Axonal Neuropathy 36 0.032
608
ATX010 Ataxia Neuropathy Spectrum 34 0.032
609
PYR009 Pyridoxine Deficiency Anemia 34 0.032
610
c CHR064 Chronic Monocytic Leukemia 33 0.032
611
ALR002 Al-Raqad Syndrome 33 0.032
612
ACT064 Acute Necrotizing Encephalitis 33 0.032
613
INF013 Inferior Myocardial Infarction 33 0.032
614
VRS002 Virus-Associated Trichodysplasia Spinulosa 32 0.032
615
TQP001 Taqi Polymorphism 32 0.032
616
SGT001 Sagittal Sinus Thrombosis 32 0.032
617
INF009 Inflammatory Spondylopathy 31 0.032
618
DSR002 Disorders of Intracellular Cobalamin Metabolism 31 0.032
619
STT009 Sutton Disease 2 30 0.032
620
CHL078 Childhood-Onset Schizophrenia 30 0.032
621
ANS006 Anosognosia 30 0.032
622
IMM039 Immune Hydrops Fetalis 30 0.032
623
MYC088 Mycobacterium Avium Complex Infections 29 0.032
624
c ORF048 Orofacial Cleft 1 29 0.032
625
c PNC094 Pancreatic Cancer 1 28 0.032
626
P SCK034 Sickle Beta Thalassemia 28 0.032
627
MTH051 Methylmalonic Aciduria and Homocystinuria, Cblj Type 28 0.032
628
CNG506 Congenital Amyoplasia 27 0.032
629
CHL079 Children's Interstitial Lung Disease 26 0.032
630
CMP035 Complete Atrioventricular Canal 26 0.032
631
c FRN037 Frontal Encephalocele 26 0.032
632
P CRT085 Carotid Intimal Medial Thickness 2 24 0.032
633
ABD009 Abducens Palsy 24 0.032
634
BLD163 Blood Group, Dombrock System 24 0.032
635
P SPN236 Spina Bifida Cystica 23 0.032
636
INT095 Internal Carotid Agenesis 22 0.032
637
c INF185 Infantile Epilepsy Syndrome 22 0.032
638
FCT013 Factor V Leiden Thrombophilia 22 0.032
639
PLM124 Pulmonary Hypertension, Neonatal 19 0.032
640
AND005 Androgen Insensitivity Syndrome, Mild 19 0.032
641
BLD137 Blood Group--Ahonen 16 0.032
642
c PST093 Posterior Hypospadias 16 0.032
643
HMC030 Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency 13 0.032
Content
Loading form....