Search results for Choline

1994 hits were found for Choline

# Family MCID Name MIFTS Score
1
CHL045 Choline Deficiency Disease 39 55.265
2
NNL005 Non-Alcoholic Fatty Liver Disease 63 21.344
3
FTT001 Fatty Liver Disease 62 20.702
4
P PRS040 Prostate Cancer 95 20.361
5
NNL006 Non-Alcoholic Steatohepatitis 54 17.396
6
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 14.803
7
P LVR013 Liver Disease 69 11.381
8
P ALZ034 Alzheimer Disease 87 11.372
9
P NRB001 Neuroblastoma 66 10.670
10
GLL048 Glial Tumor 52 10.333
11
GLM045 Glioma 63 10.294
12
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 10.106
13
PRS047 Prostatitis 58 9.269
14
FTL006 Fetal Alcohol Spectrum Disorder 43 8.842
15
P FTL001 Fetal Alcohol Syndrome 55 8.426
16
P HPT023 Hepatocellular Carcinoma 96 7.704
17
CYS001 Cystic Fibrosis 78 7.438
18
ATH013 Atherosclerosis Susceptibility 63 7.075
19
GLB002 Glioblastoma 67 6.925
20
DWN001 Down Syndrome 70 6.886
21
P SCH015 Schizophrenia 74 6.875
22
LVR012 Liver Cirrhosis 63 6.804
23
P GLM040 Glioma Susceptibility 1 71 6.713
24
BRN071 Brain Injury 50 6.560
25
HMC014 Homocysteinemia 52 6.557
26
P HYP069 Hyperparathyroidism 62 6.536
27
NRL016 Neural Tube Defects 81 6.528
28
ALC007 Alcohol Dependence 66 6.445
29
LPD008 Lipid Metabolism Disorder 62 6.361
30
c PCH010 Pachyonychia Congenita 3 43 6.359
31
P DMN002 Dementia 66 6.276
32
c MJR022 Major Affective Disorder 8 38 6.255
33
c MJR024 Major Affective Disorder 9 41 6.255
34
P BPL003 Bipolar Disorder 56 6.255
35
CRB039 Cerebrovascular Disease 66 6.200
36
ADN018 Adenoma 59 6.129
37
P MSC005 Muscular Dystrophy 67 6.084
38
P LTR001 Lateral Sclerosis 58 6.064
39
c AMY091 Amyotrophic Lateral Sclerosis 1 88 6.052
40
VSC002 Vascular Dementia 60 6.034
41
P ENC018 Encephalopathy 62 5.900
42
MLG169 Malignant Astrocytoma 57 5.822
43
P HNT016 Huntington Disease 73 5.775
44
P DBT009 Diabetes Mellitus 67 5.744
45
48X005 48,xyyy 39 5.683
46
c ACT027 Acute Pancreatitis 60 5.630
47
P PNC044 Pancreatitis 61 5.583
48
MNT002 Mental Depression 57 5.526
49
P ALC033 Alcohol Use Disorder 61 5.520
50
PRT029 Parathyroid Adenoma 51 5.372
51
MLD018 Mild Cognitive Impairment 48 5.323
52
HGH043 High Grade Glioma 45 5.322
53
P TRM004 Trimethylaminuria 45 5.306
54
TRD006 Tardive Dyskinesia 53 5.271
55
P ATS364 Autism 69 5.251
56
HYP266 Hypoxia 57 5.199
57
TRM010 Traumatic Brain Injury 51 5.161
58
P CRN300 Coronary Heart Disease 1 73 5.158
59
ISC004 Ischemia 61 5.149
60
c TYP009 Type 2 Diabetes Mellitus 92 5.119
61
DPR016 Depression 65 5.101
62
SPP011 Suppression of Tumorigenicity 12 61 5.059
63
ESP021 Esophageal Cancer 83 5.029
64
P HRT032 Heart Disease 81 5.000
65
P MJR001 Major Depressive Disorder 68 4.928
66
c PRM005 Primary Hyperparathyroidism 59 4.927
67
P PRK057 Parkinson Disease, Late-Onset 80 4.893
68
AMN003 Amnestic Disorder 54 4.857
69
P ADN016 Adenocarcinoma 63 4.833
70
PPL052 Papillomatosis, Confluent and Reticulated 34 4.830
71
P PRK039 Parkinsonism 55 4.824
72
CRB004 Cerebral Artery Occlusion 45 4.816
73
CVT001 Cavitary Optic Disc Anomalies 37 4.807
74
PRS045 Prostatic Hypertrophy 53 4.755
75
P MYS003 Myasthenia Gravis 68 4.727
76
PRS021 Prostatic Adenoma 43 4.709
77
CHL068 Cholestasis 61 4.702
78
P PHC003 Pheochromocytoma 69 4.685
79
ADR040 Adrenal Gland Pheochromocytoma 46 4.685
80
P BLD134 Bladder Cancer 79 4.674
81
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 4.658
82
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 4.585
83
PRT037 Pertussis 65 4.581
84
HYP066 Hyperglycemia 61 4.558
85
AGN016 Aging 54 4.537
86
P HYP750 Hypertriglyceridemia, Familial 62 4.521
87
P SZR006 Seizure Disorder 70 4.472
88
MNN043 Meningioma, Familial 79 4.433
89
SCR001 Secretory Meningioma 40 4.433
90
LYM002 Lymphoplasmacyte-Rich Meningioma 35 4.433
91
SPN021 Spinal Meningioma 50 4.433
92
c PRS136 Prostate Cancer, Hereditary, 6 33 4.429
93
c PRS130 Prostate Cancer, Hereditary, 8 32 4.429
94
P ATT013 Attention Deficit-Hyperactivity Disorder 64 4.374
95
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 4.367
96
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 4.367
97
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 4.367
98
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 4.367
99
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 4.367
100
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 4.367
101
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 4.367
102
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 4.367
103
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 4.367
104
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 4.367
105
P CNG001 Congenital Myasthenic Syndrome 68 4.349
106
P BRS047 Breast Cancer 98 4.321
107
PRS129 Prostatic Hyperplasia, Benign 49 4.248
108
RPD005 Rapidly Involuting Congenital Hemangioma 46 4.199
109
HLX001 Helix Syndrome 48 4.185
110
P BCL017 B-Cell Lymphoma 59 4.184
111
HPT019 Hepatic Encephalopathy 59 4.121
112
STR067 Stroke, Ischemic 80 4.115
113
HPT004 Hepatic Coma 43 4.073
114
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 80 4.025
115
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 4.022
116
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 3.990
117
P TRM003 Tremor 48 3.960
118
ART140 Arteries, Anomalies of 53 3.914
119
P VSC007 Vascular Disease 63 3.889
120
P TMP001 Temporal Lobe Epilepsy 49 3.868
121
47X002 47,xyy 48 3.863
122
WLS001 Wilson Disease 70 3.860
123
ANX004 Anoxia 40 3.860
124
CHL014 Cholera 62 3.858
125
IRN002 Iron Metabolism Disease 57 3.848
126
P OVR082 Overgrowth Syndrome 49 3.843
127
P NRP001 Neuropathy 60 3.840
128
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 3.840
129
MYL069 Myeloma, Multiple 77 3.830
130
P RTT002 Rett Syndrome 79 3.822
131
P LYM118 Lymphoma 67 3.813
132
CHR178 Chromosomal Triplication 34 3.800
133
P MYP004 Myopathy 67 3.800
134
HDN002 Head Injury 44 3.748
135
P PNC035 Pancreatic Cancer 86 3.730
136
THY029 Thyroid Carcinoma 51 3.697
137
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 39 3.694
138
CHR073 Choreatic Disease 54 3.694
139
DFF005 Diffuse Large B-Cell Lymphoma 54 3.694
140
P HMC002 Homocystinuria 53 3.687
141
LPP008 Lipoprotein Quantitative Trait Locus 65 3.673
142
P ART022 Arthritis 71 3.662
143
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 65 3.647
144
RNL114 Renal Cell Carcinoma, Nonpapillary 80 3.632
145
ANG054 Angina Pectoris 66 3.621
146
P RHM011 Rheumatoid Arthritis 82 3.611
147
P MLT020 Multiple Sclerosis 79 3.528
148
CYT002 Cytokine Deficiency 43 3.501
149
OCL069 Ocular Motor Apraxia 57 3.469
150
TTN003 Tetanus 65 3.464
151
P CRD119 Cardiac Arrest 67 3.447
152
ANX010 Anxiety 70 3.438
153
P CLR023 Colorectal Cancer 100 3.435
154
P HPT021 Hepatitis 69 3.429
155
VTM002 Vitamin B12 Deficiency 48 3.421
156
LYM133 Lymphoma, Hodgkin, Classic 74 3.419
157
HMP009 Haemophilus Influenzae 41 3.395
158
CNG034 Congestive Heart Failure 69 3.378
159
P OVR042 Ovarian Cancer 88 3.357
160
MDD011 Mood Disorder 62 3.357
161
P DRR001 Diarrhea 55 3.332
162
c DNT047 Dentinogenesis Imperfecta Type 2 35 3.320
163
END057 Endometrial Cancer 72 3.300
164
SPN186 Spinal Cord Injury 61 3.292
165
P HML002 Hemolytic Anemia 62 3.269
166
c ATS007 Autism Spectrum Disorder 72 3.250
167
P MTR014 Motor Neuron Disease 65 3.250
168
STT001 Status Epilepticus 59 3.243
169
CLT003 Colitis 63 3.234
170
PLM129 Pulmonary Disease, Chronic Obstructive 74 3.228
171
P HYP086 Hypothyroidism 69 3.212
172
P LKM002 Leukemia 67 3.198
173
c HYP836 Hypercholesterolemia, Familial, 1 73 3.196
174
LWG006 Low Grade Glioma 41 3.186
175
P INF032 Infertility 57 3.181
176
NTR005 Nutritional Deficiency Disease 61 3.165
177
P PRP019 Peripheral Nervous System Disease 58 3.165
178
P PRD006 Prader-Willi Syndrome 61 3.162
179
c LKM061 Leukemia, Acute Myeloid 83 3.139
180
P NSP012 Nasopharyngeal Carcinoma 61 3.073
181
CRN030 Coronary Stenosis 50 3.073
182
ADL002 Adult Syndrome 70 3.058
183
IRR002 Irritable Bowel Syndrome 65 3.043
184
OVR094 Ovarian Epithelial Cancer 39 3.034
185
GLC003 Glucose Intolerance 54 3.027
186
PLC005 Placental Insufficiency 56 3.022
187
OBS002 Obsessive-Compulsive Disorder 68 2.980
188
P MLN007 Male Infertility 56 2.980
189
GST033 Gestational Diabetes 61 2.972
190
P LNG064 Lung Cancer Susceptibility 3 70 2.970
191
DFC004 Deficiency Anemia 74 2.950
192
BRN004 Brain Edema 54 2.932
193
P ART021 Arteriosclerosis 54 2.928
194
P SPP010 Suppressor of Tumorigenicity 3 51 2.925
195
CRT015 Carotid Artery Occlusion 45 2.921
196
c TYP008 Type 1 Diabetes Mellitus 70 2.913
197
P RTN024 Retinoblastoma 73 2.908
198
RLP002 Relapsing-Remitting Multiple Sclerosis 56 2.908
199
INS024 Insulin-Like Growth Factor I 78 2.895
200
P TRN020 Turner Syndrome 67 2.881
201
HRW001 Hair Whorl 35 2.869
202
ALC006 Alcoholic Hepatitis 61 2.868
203
MTH071 Methane Production 25 2.861
204
c ACT071 Acute Kidney Failure 60 2.859
205
PLY150 Polykaryocytosis Inducer 29 2.858
206
LYM143 Lymphoma, Non-Hodgkin, Familial 75 2.853
208
P SBS003 Substance Abuse 54 2.815
209
THR024 Thrombosis 56 2.790
210
OST159 Osteogenic Sarcoma 66 2.781
211
P KDN018 Kidney Disease 72 2.776
212
P MYC007 Myocardial Infarction 70 2.763
213
ALL029 Allergic Disease 59 2.763
214
P INF037 Inflammatory Bowel Disease 53 2.754
215
c HPT001 Hepatitis C 62 2.754
216
P AST005 Asthma 76 2.748
217
LYM116 Lymph Node Disease 42 2.744
218
BRS051 Breast Disease 58 2.715
219
BRN028 Brain Cancer 74 2.705
220
P SRC025 Sarcoidosis 1 71 2.697
221
P HYP265 Hypotonia 42 2.684
222
SQM006 Squamous Cell Carcinoma 60 2.674
223
P MVM001 Movement Disease 61 2.673
224
URM002 Uremia 47 2.671
225
P RSP003 Respiratory Failure 74 2.653
226
P EPL164 Epilepsy 68 2.644
227
KRT002 Keratomalacia 55 2.631
228
END040 Endogenous Depression 55 2.628
229
c HYP595 Hypertension, Essential 85 2.617
230
MLR004 Malaria 80 2.617
231
P OLG002 Oligodendroglioma 66 2.617
232
c SML038 Small Cell Cancer of the Lung 69 2.600
233
ANP005 Anaplastic Astrocytoma 57 2.588
234
c BPL002 Bipolar I Disorder 47 2.555
235
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 2.538
236
LNG099 Lung Disease 62 2.538
237
ALL014 Allergic Encephalomyelitis 34 2.538
238
PLS011 Plasmacytoma 56 2.522
239
MST005 Mastitis 53 2.520
240
ADR022 Adrenomyeloneuropathy 39 2.520
241
P NMN002 Niemann-Pick Disease 60 2.510
242
END086 End Stage Renal Disease 52 2.500
243
ADR007 Adrenoleukodystrophy 73 2.494
244
P BND020 Bone Disease 59 2.488
245
SVR004 Severe Combined Immunodeficiency 72 2.482
246
HYP056 Hypoglycemia 65 2.482
247
PNG002 Pain Agnosia 51 2.476
248
c VRL010 Viral Hepatitis 53 2.470
249
c HPT073 Hepatitis C Virus 71 2.469
250
P MSC003 Muscular Atrophy 52 2.468
251
c THY107 Thymoma, Familial 42 2.455
253
P THY023 Thymoma 64 2.455
254
HYP060 Hyperinsulinism 54 2.453
255
CRT013 Carotid Stenosis 51 2.446
256
ATS010 Autosomal Recessive Disease 42 2.442
257
P HYD006 Hydrocephalus 61 2.442
258
P RHB003 Rhabdomyosarcoma 66 2.438
259
SPP007 Suppression Amblyopia 38 2.438
260
AMB002 Amblyopia 50 2.438
261
P HMN010 Hemangioma 62 2.438
262
P MJR007 Major Affective Disorder 1 42 2.434
263
GLL008 Gilles De La Tourette Syndrome 65 2.431
264
TRN015 Transient Cerebral Ischemia 63 2.424
265
P ADL010 Adult Respiratory Distress Syndrome 71 2.424
266
P AMY004 Amyloidosis 70 2.416
267
P HYP076 Hyperthyroidism 53 2.406
268
CLF027 Cleft Palate, Isolated 64 2.394
269
P ATR011 Atrial Fibrillation 66 2.394
270
c PRC016 Pre-Eclampsia 65 2.394
271
P MYC033 Myoclonus 47 2.394
272
P INS002 in Situ Carcinoma 53 2.387
273
HYP555 Hypertriglyceridemia, Transient Infantile 38 2.384
274
BNS003 Binswanger's Disease 41 2.379
275
HMS001 Hemosiderosis 48 2.374
277
PNC041 Pancreatic Ductal Adenocarcinoma 51 2.341
278
P BRB001 Beriberi 44 2.341
279
INT323 Intraocular Pressure Quantitative Trait Locus 64 2.339
280
ACQ007 Acquired Immunodeficiency Syndrome 59 2.333
281
PLM010 Pulmonary Edema 55 2.333
282
P RCT021 Rectum Cancer 54 2.333
283
P PRS038 Personality Disorder 65 2.308
284
c SCN007 Secondary Hyperparathyroidism 51 2.302
285
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 63 2.284
286
P RRH023 Rare Hereditary Hemochromatosis 54 2.273
287
CNG410 Congenital Heart Defects, Hamartomas of Tongue, and Polysyndactyly 61 2.270
288
c CHR684 Chronic Kidney Disease 69 2.265
289
P MLN008 Melanoma 76 2.257
290
TBC004 Tobacco Addiction 63 2.241
291
CHL065 Cholangiocarcinoma 58 2.238
292
CNS004 Constipation 56 2.238
293
INT079 Intrahepatic Cholangiocarcinoma 51 2.238
294
ADS004 Aids Dementia Complex 40 2.238
295
P HRP006 Herpes Simplex 65 2.237
296
OST012 Osteoarthritis 77 2.237
297
P SPR120 Supranuclear Palsy, Progressive, 1 69 2.217
298
ATM095 Autoimmune Disease 61 2.217
299
c HPT003 Hepatitis a 63 2.213
300
BLR008 Bilirubin Metabolic Disorder 57 2.205
301
MSC028 Muscular Dystrophy, Congenital, Megaconial Type 45 2.201
302
TRG019 Trigonocephaly with Short Stature and Developmental Delay 38 2.198
303
P CHL066 Cholangitis 52 2.194
304
P DDN001 Duodenal Ulcer 53 2.194
305
DSS009 Disseminated Intravascular Coagulation 57 2.171
306
P PTS002 Ptosis 52 2.171
307
SCL017 Sclerosing Hemangioma 29 2.164
308
P SMK004 Smoking As a Quantitative Trait Locus 3 44 2.161
309
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 67 2.157
310
AZS001 Azoospermia 45 2.157
311
P MDL005 Medulloblastoma 75 2.144
312
P ESP024 Esophagitis 60 2.143
313
BCT022 Bacterial Infectious Disease 56 2.137
314
PLC008 Placenta Disease 49 2.137
315
TXC005 Toxic Shock Syndrome 62 2.133
316
ANT039 Antisynthetase Syndrome 55 2.131
317
c PRG106 Progressive Muscular Dystrophy 32 2.129
318
SKN016 Skin Disease 63 2.126
319
c HNT011 Huntington Disease-Like 3 34 2.125
320
STM007 Stomatitis 54 2.125
321
KHL003 Kohlschutter-Tonz Syndrome 59 2.114
322
P MYL006 Myeloid Leukemia 61 2.109
323
P LKM062 Leukemia, Acute Lymphoblastic 69 2.102
324
PLC002 Plica Syndrome 35 2.102
325
SYN007 Synovitis 55 2.102
326
SFT003 Soft Tissue Sarcoma 57 2.102
327
DYS073 Dysphagia 53 2.102
328
PST048 Postural Orthostatic Tachycardia Syndrome 46 2.100
329
P LNG032 Lung Cancer 98 2.087
330
c ACT134 Acute Liver Failure 59 2.066
331
OTT002 Otitis Media 71 2.066
332
BRN056 Bronchopulmonary Dysplasia 56 2.061
333
TNG007 Tongue Carcinoma 52 2.049
334
SCR011 Scrapie 39 2.047
335
P END044 Endometriosis 62 2.047
336
GLM004 Gliomatosis Cerebri 52 2.047
337
NRL005 Neurilemmoma 60 2.032
338
MSC157 Muscular Dystrophy, Duchenne Type 79 2.029
339
CRV035 Cervical Cancer 73 2.029
340
P GST053 Gastric Cancer 83 2.029
341
c THY109 Thyroid Cancer, Nonmedullary, 1 55 2.029
342
PYR009 Pyridoxine Deficiency Anemia 35 2.029
343
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 2.029
344
SPN092 Spinal Shock 19 2.029
345
c SCN036 Secondary Progressive Multiple Sclerosis 55 2.028
346
P PLC011 Pilocytic Astrocytoma 57 2.028
347
PRT013 Portal Hypertension 59 2.028
348
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 2.028
349
CRB090 Cerebral Hypoxia 42 2.028
350
ATN005 Autonomic Dysfunction 46 2.028
351
CCN001 Cocaine Dependence 48 2.025
352
WTH001 Withdrawal Disorder 48 2.005
353
PST092 Posttransplant Acute Limbic Encephalitis 28 2.005
354
WLL004 Wallerian Degeneration 38 2.005
355
RTC005 Reticulosarcoma 48 1.996
356
P ANP001 Anaplastic Large Cell Lymphoma 61 1.995
357
P SLP006 Sleep Apnea 69 1.995
358
P DYS154 Dystonia 64 1.995
359
BRN024 Bronchitis 67 1.995
360
GTR002 Goiter 53 1.991
361
HMP005 Hemiplegia 54 1.991
362
P RHN004 Rhinitis 57 1.991
363
PRM209 Primary Trimethylaminuria 19 1.991
364
CCN002 Cocaine Abuse 49 1.972
365
SDD001 Sudden Infant Death Syndrome 60 1.962
366
PHN003 Phenylketonuria 76 1.962
367
P CLS010 Cluster Headache 42 1.962
368
LRN003 Learning Disability 49 1.960
369
P CHR345 Chronic Pain 50 1.960
370
CLR108 Colorectal Adenoma 64 1.960
371
P NRV007 Nervous System Disease 67 1.953
372
BTY001 Butyrylcholinesterase Deficiency 49 1.940
373
HYP003 Hypermethioninemia 51 1.940
374
CNG114 Congenital Myasthenic Syndrome with Episodic Apnea 28 1.938
375
P LKD001 Leukodystrophy 59 1.934
376
P CRB088 Cerebral Atrophy 33 1.934
377
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 60 1.931
378
P CRD246 Cardiovascular System Disease 56 1.931
379
P CNR004 Cone-Rod Dystrophy 2 74 1.930
380
ANR007 Anorexia Nervosa 60 1.925
381
c INH020 Inherited Metabolic Disorder 48 1.925
382
KDN001 Kidney Cortex Necrosis 33 1.911
383
c CHR711 Chronic Asthma 41 1.910
384
NRN004 Neuroendocrine Tumor 59 1.910
385
c SYS001 Systemic Lupus Erythematosus 87 1.906
386
P LPS004 Lupus Erythematosus 61 1.878
387
P PRS124 Presynaptic Congenital Myasthenic Syndromes 36 1.872
388
PLM001 Pulmonary Tuberculosis 69 1.872
389
DRM006 Dermatitis 62 1.872
390
P HDC001 Headache 57 1.870
391
HYP081 Hypolipoproteinemia 49 1.859
392
IMM167 Immune Deficiency Disease 78 1.852
393
c ACT075 Acute Myocardial Infarction 56 1.852
394
LTH043 Lithium Transport 17 1.827
395
ARG004 Argyria 26 1.827
396
CHR074 Choriocarcinoma 46 1.827
397
NNT012 Neonatal Jaundice 53 1.827
398
SPS057 Spasticity 42 1.824
399
P PNM007 Pneumonia 67 1.823
400
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 26 1.822
401
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 1.814
402
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 1.814
403
SPN035 Spindle Cell Sarcoma 54 1.814
404
FBR047 Fibromyalgia 58 1.814
405
P SPN046 Spinal Muscular Atrophy 63 1.814
406
SRC014 Sarcoma 65 1.814
407
NRR001 Neuroretinitis 42 1.806
408
RTN023 Retinitis 46 1.806
409
DBT006 Diabetic Macular Edema 48 1.805
410
MCL006 Macular Retinal Edema 57 1.805
411
DBT010 Diabetic Neuropathy 54 1.787
412
P CRB059 Cerebellar Degeneration 36 1.782
413
MTB004 Metabolic Acidosis 48 1.775
414
CRV043 Cervical Dystonia 46 1.775
415
ENT011 Enterocolitis 55 1.775
416
P MYT002 Myotonic Dystrophy 51 1.775
417
PRN019 Perinatal Necrotizing Enterocolitis 60 1.775
418
CRH001 Crohn's Disease 80 1.775
419
STR103 Streptococcus Pneumonia 47 1.773
420
HMC041 Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 48 1.768
421
P NRF002 Neurofibromatosis 57 1.761
422
P RNL015 Renal Hypertension 45 1.759
423
P MNN013 Meningitis 65 1.736
424
CRT045 Creatine Phosphokinase, Elevated Serum 39 1.734
425
c HNT004 Huntington Disease-Like 2 52 1.734
426
OLG001 Oligospermia 45 1.734
427
BNR002 Bone Resorption Disease 47 1.720
428
P UVT001 Uveitis 57 1.720
429
P BNG032 Benign Mesothelioma 53 1.720
430
P CRB045 Cerebellar Hypoplasia 40 1.693
431
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 1.693
432
CHR066 Chronic Fatigue Syndrome 60 1.693
433
P FBR017 Fibrosarcoma 56 1.693
434
P SLP005 Sleep Disorder 61 1.693
435
MMM001 Mammary Paget's Disease 53 1.693
436
GNR004 Generalized Anxiety Disorder 55 1.693
437
P DRM053 Dermatitis, Atopic 65 1.688
438
END062 Endometrial Hyperplasia 48 1.688
439
P HMN036 Hemangiopericytoma, Malignant 58 1.688
440
c ATS307 Autosomal Recessive Cerebellar Ataxia 39 1.688
441
c DRR009 Diarrhea 6 45 1.682
442
PRT010 Parathyroid Carcinoma 68 1.681
443
c ATM006 Autoimmune Lymphoproliferative Syndrome 75 1.679
444
GST050 Gastrointestinal System Disease 55 1.669
445
LYM019 Lymphosarcoma 46 1.669
446
P ENC004 Encephalitis 61 1.667
447
ART004 Aortic Atherosclerosis 47 1.664
448
P DYS021 Dysautonomia 38 1.664
449
DYS015 Dysentery 50 1.655
450
CRT072 Creutzfeldt-Jakob Disease 68 1.650
451
P LCT001 Lactic Acidosis 51 1.650
452
CHG001 Chagas Disease 66 1.650
453
P OPN001 Open-Angle Glaucoma 55 1.645
454
c RTN210 Retinitis Pigmentosa 50 37 1.637
455
PRT036 Peritonitis 65 1.637
456
GST045 Gastroenteritis 58 1.637
457
NRT001 Neurotic Disorder 56 1.610
458
BNG077 Benign Idiopathic Neonatal Seizures 23 1.605
459
ORL015 Oral Squamous Cell Carcinoma 43 1.605
460
INT007 Intermediate Coronary Syndrome 54 1.605
461
CLR012 Clear Cell Adenofibroma 29 1.605
462
CYS015 Cystadenofibroma 28 1.605
463
ADN009 Adenosquamous Carcinoma 48 1.605
464
GLN002 Glanders 38 1.605
465
CHL123 Chlamydia 58 1.605
466
ERL001 Early Myoclonic Encephalopathy 62 1.605
467
P TCD001 Tic Disorder 49 1.605
468
P PLM064 Pulmonary Sequestration 22 1.605
469
c NRN025 Neuronopathy, Distal Hereditary Motor, Type Viia 33 1.604
470
PST028 Post-Traumatic Stress Disorder 59 1.602
471
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 42 1.598
472
PNM013 Pneumococcal Meningitis 43 1.584
473
P RRT020 Rare Tumor 39 1.584
474
THY022 Thymic Carcinoma 57 1.584
475
ILS001 Ileus 50 1.584
476
RTN003 Retinal Ischemia 49 1.568
477
CNT019 Central Neurocytoma 46 1.568
478
P KLZ004 Kala-Azar 1 41 1.559
479
P LKM071 Leukemia, Chronic Lymphocytic 75 1.559
480
DCT002 Ductal Carcinoma in Situ 58 1.559
481
LSH001 Leishmaniasis 64 1.559
482
BRC012 Brucellosis 66 1.559
483
P MYC026 Myoclonus Epilepsy 35 1.559
484
SBC016 Subacute Delirium 43 1.559
485
P ASP001 Asperger Syndrome 48 1.557
486
CRB169 Cerebellar Atrophy, Developmental Delay, and Seizures 29 1.541
487
ACS001 Acoustic Neuroma 56 1.540
488
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 46 1.534
489
RHB024 Rhabdomyosarcoma 2 67 1.534
490
ATN004 Autonomic Neuropathy 42 1.533
491
SPN041 Spinal Cord Disease 55 1.532
492
P PTT006 Pituitary Adenoma 55 1.528
493
BLD131 Bladder Urothelial Carcinoma 60 1.528
494
P CTR002 Cataract 60 1.528
495
LWC001 Low Compliance Bladder 45 1.528
496
TRN018 Transitional Cell Carcinoma 56 1.528
497
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 1.511
498
P MYS005 Myositis 56 1.511
499
P TRT019 Torticollis 47 1.511
500
DMN031 Dementia, Lewy Body 65 1.511
501
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 1.511
502
VSC003 Visceral Leishmaniasis 55 1.511
503
CLF001 Cleft Lip 53 1.511
504
c PRG011 Progressive Myoclonus Epilepsy 41 1.511
505
ACY011 Acyl-Coa Dehydrogenase Deficiency 30 1.511
506
P PLM036 Pulmonary Fibrosis 66 1.511
507
PRM236 Primary Biliary Cholangitis 60 1.511
508
PPL002 Papillary Carcinoma 46 1.511
509
P ECL001 Eclampsia 52 1.511
510
SCH014 Schistosomiasis 56 1.511
511
ASP004 Asphyxia Neonatorum 50 1.511
512
MDS018 Mediastinal Cancer 42 1.511
513
MRP001 Morphine Dependence 42 1.511
514
KWS001 Kwashiorkor 45 1.511
515
DMT001 Dimethylglycine Dehydrogenase Deficiency 27 1.509
516
MLT157 Multiple System Atrophy 1 69 1.498
517
CRB037 Cerebral Palsy 67 1.498
518
PRP016 Paraplegia 52 1.483
519
CLR109 Colorectal Adenocarcinoma 50 1.468
520
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65 1.468
521
LKN001 Leukoencephalopathy with Vanishing White Matter 63 1.467
522
DMY004 Demyelinating Disease 50 1.462
523
PST021 Postpartum Depression 50 1.461
524
UTR033 Uterine Corpus Cancer 44 1.461
526
c BRN108 Branchiootic Syndrome 1 62 1.461
527
DBT081 Diabetic Encephalopathy 36 1.461
528
PRM329 Premature Aging 36 1.461
529
P HYP098 Hypereosinophilic Syndrome 66 1.461
530
DDN004 Duodenogastric Reflux 31 1.461
531
PLV003 Pelvic Inflammatory Disease 55 1.461
532
DPH001 Diphtheria 59 1.461
533
P DYS005 Dyslexia 41 1.461
534
INT066 Interstitial Lung Disease 60 1.461
535
OPS006 Opsoclonus-Myoclonus Syndrome 48 1.461
536
EXN003 Exencephaly 30 1.461
537
HYP005 Hypokalemia 55 1.450
538
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 70 1.445
539
P THY032 Thyroiditis 57 1.445
540
c MCR115 Microvascular Complications of Diabetes 5 65 1.433
541
P OPT006 Optic Nerve Disease 58 1.429
542
DBT002 Diabetic Autonomic Neuropathy 41 1.429
543
DFF012 Differentiating Neuroblastoma 27 1.425
544
PNF002 Painful Legs and Moving Toes Syndrome 14 1.425
545
P PLY018 Polycythemia 56 1.420
546
P THL005 Thalassemia 56 1.408
547
P FRG001 Fragile X Syndrome 70 1.408
548
CRD132 Cardiac Conduction Defect 60 1.408
549
BRN032 Brain Glioma 45 1.408
550
P ORF002 Orofacial Cleft 43 1.408
551
IMM199 Immunodeficiency 60 31 1.408
552
HPT022 Hepatoblastoma 54 1.408
553
P OLV001 Olivopontocerebellar Atrophy 51 1.408
554
P INT070 Intestinal Obstruction 57 1.408
555
P TBR001 Tuberous Sclerosis 69 1.408
556
PLM028 Pulmonary Coin Lesion 30 1.408
557
P ICH004 Ichthyosis 56 1.408
558
NDL007 Nodular Goiter 48 1.408
559
RST023 Resting Heart Rate, Variation in 40 1.404
560
ALL003 Allergic Rhinitis 67 1.404
561
P PRG013 Paraganglioma 57 1.404
562
RTR001 Retrograde Amnesia 41 1.404
563
c DLT002 Dilated Cardiomyopathy 78 1.404
564
LYM009 Lymphocytic Choriomeningitis 46 1.404
565
NRM004 Neuroma 49 1.404
566
EWN003 Ewing Sarcoma 70 1.393
567
PPT005 Peptic Ulcer Disease 58 1.393
568
PRS025 Presbyopia 38 1.392
569
P SCL009 Sclerosing Cholangitis 48 1.390
570
c MGR028 Migraine with or Without Aura 1 64 1.387
571
ACT003 Acute Kidney Tubular Necrosis 46 1.387
572
NRF007 Neurofibroma 64 1.387
573
NRD004 Neurodegeneration Due to Cerebral Folate Transport Deficiency 32 1.379
574
SKN019 Skin Melanoma 71 1.365
575
c HYP724 Hyperlipoproteinemia, Type Iii 67 1.358
576
PPL001 Papillary Adenoma 44 1.358
577
NRM022 Neurometabolic Disease 24 1.351
578
NRD097 Neurodegeneration, Childhood-Onset, with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline 21 1.351
580
LKN005 Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema 20 1.351
581
INT075 Intracranial Hypertension 53 1.351
582
P PSR002 Psoriasis 63 1.351
583
c BCT013 Bacterial Pneumonia 48 1.351
584
CLF056 Cleft Lip with or Without Cleft Palate 42 1.351
585
P VNT002 Ventricular Septal Defect 58 1.351
586
PST011 Pustulosis of Palm and Sole 52 1.351
587
NRM005 Neuromuscular Disease 63 1.351
588
P GRV001 Graves' Disease 55 1.351
589
THY020 Thyroid Hyalinizing Trabecular Adenoma 20 1.351
590
RNL018 Renal Pelvis Carcinoma 29 1.351
591
GST037 Gastroparesis 52 1.351
592
ORL011 Oral Cancer 60 1.351
593
LPM012 Lipomatosis, Multiple 60 1.348
594
TTT001 Tatton-Brown-Rahman Syndrome 46 1.348
595
HND015 Hand Skill, Relative 30 1.348
596
PLM005 Pleomorphic Lipoma 40 1.348
597
PRG009 Progressive Multifocal Leukoencephalopathy 58 1.348
598
P KDN017 Kidney Cancer 61 1.348
599
P NRM002 Normal Pressure Hydrocephalus 49 1.348
600
P LPM005 Lipomatosis 47 1.343
601
KPR003 Keipert Syndrome 44 1.342
602
MCL027 Macular Dystrophy, Dominant Cystoid 51 1.342
603
c BLD140 Blood Group, I System 46 1.342
604
MNT001 Mantle Cell Lymphoma 67 1.342
605
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 63 1.342
606
P VSC018 Visceral Steatosis 32 1.342
607
P LPR021 Leprosy 3 71 1.335
608
P EST001 Estrogen-Receptor Positive Breast Cancer 49 1.335
609
HNS001 Hansen's Disease 32 1.335
610
P MCR129 Microvascular Complications of Diabetes 1 68 1.325
611
P PLY019 Polyneuropathy 52 1.324
612
CLL010 Cellular Ependymoma 57 1.308
613
P BNG030 Benign Ependymoma 51 1.308
614
P SCK005 Sickle Cell Disease 56 1.308
615
CYS013 Cystinuria 66 1.305
616
PLS009 Plasma Cell Neoplasm 64 1.305
617
P SLW003 Slow-Channel Congenital Myasthenic Syndrome 35 1.292
618
MTC005 Mitochondrial Metabolism Disease 45 1.292
619
SQM013 Squamous Cell Carcinoma, Head and Neck 73 1.292
620
P RTN008 Retinitis Pigmentosa 80 1.292
621
PSR001 Psoriatic Arthritis 62 1.292
622
P MYC084 Mycobacterium Tuberculosis 1 68 1.292
623
c PRS134 Prostate Cancer, Hereditary, 3 20 1.292
624
P ATS426 Autosomal Dominant Distal Hereditary Motor Neuronopathy 33 1.292
625
P MYP006 Myopia 56 1.292
626
BLD008 Bladder Carcinoma in Situ 29 1.292
627
SVR001 Severe Acute Respiratory Syndrome 67 1.292
628
NRT004 Neuritis 53 1.292
629
P MCR010 Microcephaly 60 1.292
630
PLS007 Plasmodium Falciparum Malaria 52 1.292
631
P PLZ001 Pelizaeus-Merzbacher Disease 65 1.266
632
EXT007 Extracutaneous Mastocytoma 38 1.266
633
ULC004 Ulcerative Colitis 74 1.266
634
MST004 Mast Cell Neoplasm 42 1.266
635
c FML021 Familial Hypercholesterolemia 72 1.257
636
P MTH008 Methylmalonic Acidemia 52 1.243
637
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 1.228
638
CYN002 Cyanosis, Transient Neonatal 43 1.228
639
c SCH080 Schizophrenia 3 28 1.228
640
c MYS046 Myasthenic Syndrome, Congenital, 1a, Slow-Channel 44 1.228
641
c GRV008 Graves Disease 1 54 1.228
642
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 64 1.228
643
c PRM015 Primary Cerebellar Degeneration 30 1.228
644
HMG002 Hemoglobinuria 50 1.228
645
VGN019 Vaginal Discharge 47 1.228
646
BRN014 Bronchopneumonia 53 1.228
647
PPL022 Papilloma 53 1.228
648
SQM002 Squamous Cell Papilloma 46 1.228
649
BRN008 Brain Compression 25 1.228
650
c HPT016 Hepatitis B 62 1.228
651
SPL018 Splenomegaly 49 1.228
652
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 1.223
653
LWG005 Low-Grade Astrocytoma 38 1.223
654
P ANT006 Antiphospholipid Syndrome 55 1.223
655
PTH003 Pathologic Nystagmus 52 1.223
656
MXD026 Mixed Glioma 45 1.205
657
FRN006 Frontotemporal Dementia 68 1.179
658
P CLC063 Celiac Disease 1 66 1.179
659
P AXN001 Axonal Neuropathy 35 1.179
660
BRN034 Brain Meningioma 33 1.170
661
URL001 Urolithiasis 46 1.170
662
P STR092 Striatal Degeneration, Autosomal Dominant 2 47 1.170
663
SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 44 1.170
664
PLY001 Polycythemia Vera 69 1.170
665
RDC003 Red Cell Phospholipid Defect with Hemolysis 16 1.170
666
c THR092 Thrombophilia Due to Thrombin Defect 74 1.158
667
P URN019 Urinary Tract Infection 49 1.158
668
CNV004 Canavan Disease 62 1.158
669
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 42 1.158
670
P STR020 Strabismus 56 1.158
671
MCH006 Mechanical Strabismus 40 1.158
672
MLG079 Malignant Pleural Mesothelioma 42 1.158
673
CRY005 Cryptococcosis 60 1.158
674
P END033 Endocarditis 58 1.158
675
PLM031 Poliomyelitis 63 1.158
676
ERY004 Erysipelas 47 1.158
677
c ERL029 Early-Onset, Autosomal Dominant Alzheimer Disease 59 1.158
678
c INF122 Infantile Krabbe Disease 32 1.149
679
PYR037 Pyruvate Carboxylase Deficiency 45 1.149
680
DLY009 Delayed Encephalopathy Due to Carbon Monoxide Poisoning 12 1.149
681
c GLL024 Gallbladder Disease 1 52 1.132
682
EPD070 Epidermoid Cysts 35 1.132
683
APH002 Aphasia 56 1.132
684
c HYD046 Hydatidiform Mole, Recurrent, 1 59 1.132
685
c NMN013 Niemann-Pick Disease, Type a 63 1.132
686
c NMN015 Niemann-Pick Disease, Type C1 68 1.132
687
GST010 Gestational Trophoblastic Neoplasm 52 1.132
688
P BRS053 Breast Fibroadenoma 49 1.132
689
RBS001 Rabies 58 1.132
690
P TRT010 Teratoma 51 1.132
691
EMB004 Embryonal Carcinoma 56 1.132
692
c GLC092 Glaucoma, Primary Open Angle 62 1.130
693
ERD001 Erdheim-Chester Disease 53 1.130
694
LGH007 Leigh Syndrome 70 1.084
695
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 1.084
696
PCK003 Pick Disease of Brain 69 1.084
697
DSS032 Disease by Infectious Agent 55 1.084
698
P CWD010 Cowden Syndrome 70 1.084
699
GST023 Gastric Ulcer 52 1.084
700
LRN001 Laurence-Moon Syndrome 45 1.081
701
c PRG019 Paragangliomas 2 30 1.081
702
PRP080 Peripheral Artery Disease 54 1.081
703
FBR009 Fibrous Dysplasia 48 1.081
704
CRC021 Carcinosarcoma 64 1.081
705
OCL006 Ocular Hypertension 53 1.081
706
LPD009 Lipid Storage Disease 45 1.081
707
P THR014 Thrombocytopenia 66 1.081
708
DFF016 Diffuse Astrocytoma 45 1.081
709
CLN015 Colon Adenocarcinoma 65 1.081
710
P KRN004 Kernicterus 46 1.081
711
TBR006 Tuberculoid Leprosy 43 1.081
712
ADR008 Adrenal Adenoma 55 1.081
713
MGC001 Megacolon 48 1.081
714
GRM010 Germ Cells Tumors 33 1.081
715
TNS014 Tenosynovitis 46 1.081
716
CRY036 Cryptogenic Cirrhosis 36 1.081
717
c CNG027 Congenital Hemolytic Anemia 48 1.066
718
CVD001 Covid-19 57 1.066
719
RYS001 Reye Syndrome 49 1.066
720
CLN019 Colonic Disease 47 1.066
721
GRN017 Granulocytopenia 42 1.066
722
ANN002 Anencephaly 57 1.051
723
SPS019 Spastic Paraparesis 38 1.034
724
P MCH002 Machado-Joseph Disease 62 1.034
725
P DXT004 Dextro-Looped Transposition of the Great Arteries 58 1.034
726
ALV005 Alveolar Soft Part Sarcoma 61 1.034
727
P INF038 Influenza 68 1.034
728
PGM001 Pigmented Villonodular Synovitis 55 1.034
729
PSY004 Psychotic Disorder 66 1.034
730
P NRN021 Neuronal Ceroid Lipofuscinosis 65 1.034
731
P GCH001 Gaucher's Disease 70 1.034
732
TST014 Testicular Cancer 52 1.034
733
CHN010 Chondroma 43 1.034
734
VLL003 Villonodular Synovitis 41 1.034
735
ENC014 Enchondroma 28 1.034
736
c LKM070 Leukemia, Acute Monocytic 56 1.028
737
PRP075 Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss 38 1.028
738
ERY051 Erythroleukemia, Familial 37 1.028
739
P ANR048 Aniridia 1 64 1.028
740
ACT250 Acute Megakaryocytic Leukemia 60 1.028
741
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 54 1.028
742
c CHR064 Chronic Monocytic Leukemia 36 1.028
743
CNN002 Cannabis Abuse 45 1.026
744
CNN001 Cannabis Dependence 38 1.026
745
CRB009 Cerebritis 43 1.026
746
SLN002 Selenium Poisoning 10 1.016
747
c HMC039 Hemochromatosis, Type 1 73 0.993
748
HMC040 Homocystinuria Due to Cystathionine Beta-Synthase Deficiency 50 0.993
749
ISL109 Isolated Cleft Lip 33 0.993
750
c DST092 Distal Hereditary Motor Neuropathy Type 7 22 0.993
751
GRW007 Growth Hormone Deficiency 46 0.993
752
BLP046 Blepharophimosis, Ptosis, and Epicanthus Inversus 56 0.993
753
c MYS055 Myasthenic Syndrome, Congenital, 6, Presynaptic 47 0.993
754
P PRS049 Persistent Mullerian Duct Syndrome 52 0.993
755
PRT251 Proteinuria, Chronic Benign 57 0.993
756
P CTN015 Cutaneous T Cell Lymphoma 48 0.993
757
P OMP004 Omphalocele 48 0.993
758
PHY002 Physical Disorder 41 0.993
759
XRD010 Xeroderma Pigmentosum, Variant Type 73 0.993
760
IGR001 Ige Responsiveness, Atopic 59 0.993
762
INT395 Intracranial Meningioma 39 0.993
763
GST004 Gastric Neuroendocrine Neoplasm 36 0.993
764
FLL031 Follicular Adenoma 40 0.993
765
THY006 Thymus Lymphoma 27 0.993
766
HRY003 Hairy Cell Leukemia 61 0.993
767
CRV040 Cervix Carcinoma 50 0.993
768
PLM012 Pulmonary Sarcoidosis 53 0.993
769
DMP001 Dumping Syndrome 43 0.993
770
CLB002 Clubfoot 51 0.993
771
P CRN026 Corneal Edema 42 0.993
772
HMN009 Hemangioblastoma 54 0.993
773
P SPN052 Spondyloarthropathy 55 0.993
774
RHM001 Rheumatic Fever 59 0.993
775
PRS063 Paresthesia 39 0.993
776
HYP144 Hyperacusis 23 0.993
777
OLG006 Oligoastrocytoma 34 0.993
778
RVR002 Reversible Cerebral Vasoconstriction Syndrome 28 0.993
779
MTN003 Motion Sickness 51 0.981
780
P MCL001 Mucolipidosis 49 0.981
781
HLC007 Helicobacter Pylori Infection 67 0.981
782
PRS042 Prostate Disease 42 0.981
783
P NRC002 Narcolepsy 56 0.981
784
P GST044 Gastritis 55 0.981
785
ACT084 Acute Stress Disorder 54 0.981
786
CYS005 Cysticercosis 60 0.981
787
IMP005 Impotence 52 0.981
788
MNN009 Meningoencephalitis 48 0.981
789
GNG005 Gangliocytoma 55 0.981
790
PLG002 Plague 58 0.981
791
THY111 Thyroid Carcinoma, Familial Medullary 67 0.965
792
NRN001 Neuroendocrine Carcinoma 47 0.965
793
HST010 Histiocytosis 49 0.965
794
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 50 0.965
795
P PRN023 Prion Disease 60 0.965
796
LPG001 Lipogranulomatosis 29 0.965
797
ASP026 Asplenia, Isolated Congenital 43 0.925
798
P PLM037 Pulmonary Hypertension 72 0.925
799
MSC007 Muscle Hypertrophy 64 0.925
800
KRN002 Kearns-Sayre Syndrome 63 0.925
801
ACT119 Acute Promyelocytic Leukemia 62 0.925
802
VRC005 Varicose Veins 60 0.925
803
PLM196 Pulmonary Adenocarcinoma in Situ 36 0.925
804
P PLY041 Polymyositis 59 0.925
805
P PNC025 Panic Disorder 52 0.925
806
P PRD008 Periodontitis 64 0.925
807
c CRT089 Cortical Dysplasia, Complex, with Other Brain Malformations 10 39 0.925
808
P PLY011 Polycystic Ovary Syndrome 57 0.925
809
P GNT009 Giant Axonal Neuropathy 46 0.925
810
P GNG009 Gangliosidosis 44 0.925
811
SDD008 Sudden Sensorineural Hearing Loss 41 0.916
812
GLY015 Glycine N-Methyltransferase Deficiency 40 0.916
813
ADP007 Adie Pupil 40 0.916
814
P INT099 Intrahepatic Cholestasis of Pregnancy 62 0.916
815
P MLN069 Melanoma, Uveal 61 0.891
816
NNR004 Nonarteritic Anterior Ischemic Optic Neuropathy 57 0.891
817
c MJR006 Major Affective Disorder 5 32 0.891
818
c MJR003 Major Affective Disorder 6 32 0.891
819
OCL022 Ocular Melanoma 52 0.891
820
QLT002 Qualitative or Quantitative Defects of Dystrophin 19 0.889
821
CNG506 Congenital Amyoplasia 27 0.889
822
LMB010 Lambert Syndrome 30 0.889
823
FLT006 Floating-Harbor Syndrome 52 0.889
824
FML037 Female Breast Cancer 51 0.889
825
OCL052 Ocular Dominance 40 0.889
826
P CHR285 Chronic Myelomonocytic Leukemia 60 0.889
827
P QLT041 Qualitative or Quantitative Defects of Alpha-Dystroglycan 18 0.889
828
MLG078 Malignant Pineal Area Germ Cell Neoplasm 22 0.889
829
PLX004 Plexopathy 29 0.889
830
BRC010 Brachial Plexus Lesion 34 0.889
831
c BSL007 Basal Cell Carcinoma 68 0.889
832
BRN038 Bronchial Disease 51 0.889
833
LPR001 Lepromatous Leprosy 49 0.889
834
P END047 Endophthalmitis 53 0.889
835
SBP001 Subependymal Giant Cell Astrocytoma 46 0.889
836
KRT001 Keratoconjunctivitis Sicca 50 0.889
837
DYS032 Dystrophinopathies 47 0.889
838
ANR040 Aneurysm 61 0.889
839
c CNG441 Congenital Muscular Dystrophy Due to Dystroglycanopathy 28 0.889
840
BRN055 Bronchogenic Cyst 26 0.889
841
PYR016 Pyridoxine Deficiency 29 0.889
842
MRG013 Mirage Syndrome 44 0.878
843
THY030 Thyroid Gland Disease 50 0.878
844
HMN014 Human Immunodeficiency Virus Infectious Disease 54 0.878
845
P CRV039 Cervicitis 52 0.878
846
EXC002 Exocrine Pancreatic Insufficiency 42 0.878
847
P BNC003 Bone Cancer 58 0.878
848
SNG003 Single Ventricular Heart 30 0.865
849
WBR001 Weber Syndrome 38 0.865
850
c PNS012 Paine Syndrome 60 0.865
851
STR039 Sturge-Weber Syndrome 61 0.865
852
c MCR130 Microvascular Complications of Diabetes 6 41 0.865
853
NRN005 Neuronal Ceroid-Lipofuscinoses 61 0.865
854
P EPL198 Epilepsy, Myoclonic Juvenile 61 0.865
855
c DPH024 Diaphragmatic Hernia, Congenital 64 0.865
857
c MCR120 Microvascular Complications of Diabetes 7 47 0.865
858
P MTC003 Metachromatic Leukodystrophy 71 0.865
859
RSP019 Respiratory Distress Syndrome in Premature Infants 52 0.865
860
c TBR025 Tuberous Sclerosis 1 84 0.865
861
CRN048 Craniofacial-Deafness-Hand Syndrome 52 0.865
862
c NRF024 Neurofibromatosis, Type I 72 0.865
863
PRX001 Peroxisomal Disease 46 0.865
864
CRV002 Cervix Uteri Carcinoma in Situ 47 0.865
865
P ALP008 Alopecia 54 0.865
866
MNG007 Manganese Poisoning 28 0.865
867
P SYS005 Systemic Scleroderma 74 0.865
868
c MCR113 Microvascular Complications of Diabetes 3 52 0.865
869
c MCR133 Microvascular Complications of Diabetes 4 41 0.865
870
CHL004 Cholelithiasis 49 0.865
871
GT001 Gout 64 0.865
872
FCL014 Focal Epilepsy 53 0.865
873
P MLT074 Multiple Endocrine Neoplasia 59 0.865
874
P GLM007 Glomerulonephritis 60 0.865
875
P HRD011 Hereditary Spherocytosis 64 0.865
876
P MTC069 Mitochondrial Disorders 57 0.865
877
CRV045 Cervical Intraepithelial Neoplasia 39 0.865
878
CRT033 Corticobasal Degeneration 47 0.865
879
P SPN429 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 57 0.863
880
PRT030 Parathyroid Gland Disease 45 0.863
881
ATX019 Ataxia with Vitamin E Deficiency 44 0.863
882
CHL079 Children's Interstitial Lung Disease 26 0.863
883
c HRD010 Hereditary Spastic Paraplegia 66 0.861
884
P RTN018 Retinal Disease 53 0.861
885
c MLG147 Malignant Hyperthermia 1 45 0.855
886
NRD105 Neurodevelopmental Disorder with Seizures, Hypotonia, and Brain Imaging Abnormalities 22 0.813
887
P CNG436 Congenital Disorder of Deglycosylation 51 0.813
888
c LKD033 Leukodystrophy, Hypomyelinating, 20 20 0.813
889
PRT086 Partial Hydatidiform Mole 23 0.801
890
P EPL140 Epilepsy, Idiopathic Generalized 62 0.801
891
c SCL052 Scleroderma, Familial Progressive 61 0.801
892
TNG002 Tangier Disease 64 0.801
893
PRP027 Peripheral Vascular Disease 71 0.801
894
c BNG093 Benign Teratoma 39 0.801
895
BLC015 Balo Concentric Sclerosis 36 0.801
896
c CNG006 Congenital Hypothyroidism 63 0.801
897
HTC003 Hutchinson-Gilford Progeria Syndrome 65 0.801
898
PPL054 Popliteal Cyst 22 0.801
899
DRM014 Dermatofibrosarcoma Protuberans 65 0.801
900
SBC001 Subacute Sclerosing Panencephalitis 53 0.801
901
URT049 Urate Oxidase, Pseudogene 24 0.801
902
PLY183 Polymicrogyria with or Without Vascular-Type Ehlers-Danlos Syndrome 41 0.801
903
RNL077 Renal Fibrosis 46 0.801
904
P ZLL001 Zellweger Syndrome 65 0.801
905
PRN022 Perineurioma 37 0.801
906
URT010 Ureteral Obstruction 45 0.801
907
P MLG056 Malignant Hyperthermia 66 0.801
908
P SPR013 Spiradenoma 33 0.801
909
P CYS018 Cystitis 59 0.801
910
GRM004 Germinoma 44 0.801
911
P SKN015 Skin Carcinoma 71 0.801
912
P CND004 Candidiasis 58 0.801
913
P SNS001 Sensorineural Hearing Loss 59 0.801
914
TRY001 Trypanosomiasis 50 0.801
915
c SPR162 Spermatogenic Failure 50 42 0.801
916
CCC002 Coccidiosis 50 0.801
917
TBL003 Tubular Adenocarcinoma 40 0.801
918
WRN003 Wernicke Encephalopathy 46 0.801
919
JXT003 Juxtacortical Osteosarcoma 29 0.801
920
NWC001 Newcastle Disease 47 0.801
921
SPS003 Spastic Diplegia 53 0.801
922
CRB033 Cerebral Degeneration 39 0.801
923
RCT020 Rectum Adenocarcinoma 48 0.801
924
PLY024 Polymicrogyria 47 0.801
925
SYS003 Systolic Heart Failure 49 0.801
926
BCK006 Back Pain 47 0.801
927
P FBR031 Febrile Seizures 52 0.801
928
P FML187 Familial Hypertension 34 0.801
929
MLT075 Multifocal Motor Neuropathy 45 0.801
930
ETN001 Eating Disorder 59 0.801
931
P ACT010 Acth-Secreting Pituitary Adenoma 61 0.754
932
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 45 0.754
933
c CRN139 Cornelia De Lange Syndrome 1 61 0.754
934
BLD145 Blood Group--Newfoundland 13 0.754
935
c ART138 Aortic Aneurysm, Familial Abdominal, 1 61 0.754
936
INT017 Intestinal Schistosomiasis 51 0.754
937
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 66 0.754
938
c MYS068 Myasthenic Syndrome, Congenital, 20, Presynaptic 42 0.754
939
P HRS035 Hirschsprung Disease 1 66 0.754
940
c HYP720 Hyperparathyroidism 4 25 0.754
941
STT041 Stuttering 52 0.754
942
c HRD026 Hereditary Ataxia 47 0.754
943
INT067 Interstitial Nephritis 46 0.754
944
CHR177 Chromophobe Renal Cell Carcinoma 54 0.754
945
AKN002 Akinetic Mutism 36 0.754
946
KRT006 Keratoconjunctivitis 53 0.754
947
PYD002 Pyoderma 50 0.754
948
ART016 Aortic Aneurysm 68 0.754
949
ANV001 Anovulation 47 0.754
950
MTS001 Mutism 44 0.754
951
P END046 Endometritis 46 0.754
952
PCD001 Pica Disease 38 0.754
953
LYD001 Leydig Cell Tumor 45 0.754
954
CRD003 Cardiac Sarcoidosis 44