Search results for ATP

3469 hits were found for ATP

# Family MCID Name MIFTS Score
1
ISL082 Isolated Atp Synthase Deficiency 26 23.676
2
MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 32 23.372
3
MTC141 Mitochondrial Complex V Deficiency, Nuclear Type 5 36 14.904
4
MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 40 13.282
5
TNG002 Tangier Disease 63 12.507
6
ADN039 Adenosine Triphosphate, Elevated, of Erythrocytes 19 10.387
7
TMM013 Tmem70 Defect 17 10.301
8
c SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 38 9.815
9
PRT037 Pertussis 49 8.689
10
ANX004 Anoxia 40 7.983
11
HLX001 Helix Syndrome 47 6.942
12
HYP266 Hypoxia 56 6.756
13
CYS001 Cystic Fibrosis 77 5.896
14
P NNT058 Neonatal Diabetes 52 5.684
15
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 66 5.549
16
HYP060 Hyperinsulinism 53 5.266
17
HYP056 Hypoglycemia 65 5.147
18
P NRB001 Neuroblastoma 66 4.730
19
INS001 Insulinoma 59 4.729
20
GLL048 Glial Tumor 51 4.612
21
GLM045 Glioma 62 4.595
22
ISC004 Ischemia 61 4.553
23
HYP066 Hyperglycemia 60 4.484
24
P PHC003 Pheochromocytoma 70 4.443
25
ADR040 Adrenal Gland Pheochromocytoma 45 4.437
26
LPD008 Lipid Metabolism Disorder 61 4.297
27
P MYP004 Myopathy 67 4.152
28
48X005 48,xyyy 39 4.121
29
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 4.041
30
c HYP836 Hypercholesterolemia, Familial, 1 73 4.033
31
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 3.953
32
P DBT009 Diabetes Mellitus 67 3.933
33
P HYP061 Hypertrophic Cardiomyopathy 68 3.923
34
c TYP009 Type 2 Diabetes Mellitus 91 3.908
35
ATH013 Atherosclerosis Susceptibility 63 3.872
36
P MTC069 Mitochondrial Disorders 57 3.831
37
NNL005 Non-Alcoholic Fatty Liver Disease 63 3.807
38
P ALZ034 Alzheimer Disease 87 3.763
39
c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 65 3.740
40
P LCT001 Lactic Acidosis 50 3.740
41
LWC001 Low Compliance Bladder 44 3.738
42
MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 35 3.702
43
CRB004 Cerebral Artery Occlusion 45 3.673
44
LGH007 Leigh Syndrome 70 3.622
45
FTT001 Fatty Liver Disease 61 3.569
46
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 3.567
47
ALL029 Allergic Disease 61 3.549
48
c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 50 3.539
49
c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 52 3.539
50
CHL014 Cholera 62 3.481
51
P MSC005 Muscular Dystrophy 66 3.454
52
LPP008 Lipoprotein Quantitative Trait Locus 65 3.418
53
c DLT002 Dilated Cardiomyopathy 79 3.402
54
P HYP050 Hyperinsulinemic Hypoglycemia 56 3.284
55
P CRN300 Coronary Heart Disease 1 73 3.267
56
CYT002 Cytokine Deficiency 43 3.236
57
CRD132 Cardiac Conduction Defect 59 3.200
58
P MYC084 Mycobacterium Tuberculosis 1 68 3.196
59
c ATR087 Atrial Standstill 1 74 3.152
61
VCC001 Vaccinia 49 3.101
62
CHL068 Cholestasis 61 3.087
63
BRN071 Brain Injury 50 3.066
64
ADR022 Adrenomyeloneuropathy 38 3.065
65
P OVR042 Ovarian Cancer 88 3.063
66
ADR007 Adrenoleukodystrophy 73 3.063
67
P HRT032 Heart Disease 84 3.011
68
P BRS047 Breast Cancer 97 3.007
69
P ENC018 Encephalopathy 62 2.988
70
MTC005 Mitochondrial Metabolism Disease 44 2.982
71
P GLM040 Glioma Susceptibility 1 70 2.975
72
MLG169 Malignant Astrocytoma 57 2.975
73
BNR002 Bone Resorption Disease 47 2.967
74
c MGR028 Migraine with or Without Aura 1 63 2.964
75
P BDY004 Body Mass Index Quantitative Trait Locus 11 82 2.961
76
AGN016 Aging 53 2.955
77
GLB002 Glioblastoma 67 2.945
78
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 2.918
79
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 2.916
80
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 2.916
81
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 2.916
82
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 2.916
83
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 2.916
84
c BDY019 Body Mass Index Quantitative Trait Locus 18 46 2.916
85
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 2.916
86
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 2.916
87
P PLM037 Pulmonary Hypertension 69 2.909
88
OST159 Osteogenic Sarcoma 66 2.877
89
c OPT053 Optic Atrophy 1 62 2.869
90
P STR022 Stargardt Disease 61 2.850
91
c HPT073 Hepatitis C Virus 70 2.843
92
RPD005 Rapidly Involuting Congenital Hemangioma 48 2.821
93
c ACT071 Acute Kidney Failure 60 2.779
94
TTN003 Tetanus 64 2.766
95
NRR001 Neuroretinitis 42 2.732
96
RTN023 Retinitis 45 2.732
97
P RTN008 Retinitis Pigmentosa 79 2.728
98
P PLY014 Polycystic Kidney Disease 71 2.724
99
P HYP750 Hypertriglyceridemia, Familial 61 2.721
100
P VSC007 Vascular Disease 62 2.708
101
P PRM030 Permanent Neonatal Diabetes Mellitus 59 2.701
102
MNT002 Mental Depression 56 2.693
103
HMP009 Haemophilus Influenzae 41 2.681
104
c AMY091 Amyotrophic Lateral Sclerosis 1 87 2.676
105
c ACT027 Acute Pancreatitis 60 2.672
106
c LKM061 Leukemia, Acute Myeloid 83 2.672
107
P LNG032 Lung Cancer 98 2.655
108
NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 47 2.653
109
MTB004 Metabolic Acidosis 48 2.643
110
P MYC007 Myocardial Infarction 69 2.638
111
PLY150 Polykaryocytosis Inducer 29 2.637
112
MYC005 Myocardial Stunning 45 2.618
113
P LTR001 Lateral Sclerosis 57 2.613
114
TXC005 Toxic Shock Syndrome 61 2.612
115
DPR016 Depression 64 2.605
116
P CHR345 Chronic Pain 50 2.597
117
SPN186 Spinal Cord Injury 60 2.596
118
SYN036 Syncope 44 2.590
119
c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 62 2.577
120
P OPT006 Optic Nerve Disease 57 2.573
121
P NRN021 Neuronal Ceroid Lipofuscinosis 64 2.558
122
LNG099 Lung Disease 62 2.548
123
GLC003 Glucose Intolerance 53 2.546
124
ART140 Arteries, Anomalies of 52 2.529
125
P PNC035 Pancreatic Cancer 87 2.524
126
P CRD119 Cardiac Arrest 68 2.521
127
ATS010 Autosomal Recessive Disease 42 2.510
128
ACT098 Acute Erythroid Leukemia 55 2.504
129
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 2.501
130
P LNG064 Lung Cancer Susceptibility 3 69 2.490
131
P MJR001 Major Depressive Disorder 68 2.484
132
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 2.475
133
HMN044 Human Immunodeficiency Virus Type 1 76 2.468
134
PLM129 Pulmonary Disease, Chronic Obstructive 74 2.462
135
P CYS018 Cystitis 58 2.460
136
c CHR684 Chronic Kidney Disease 73 2.454
137
P PSD087 Pseudoxanthoma Elasticum 66 2.447
138
P MYL006 Myeloid Leukemia 60 2.444
139
P CLR023 Colorectal Cancer 100 2.434
140
P KLZ004 Kala-Azar 1 41 2.427
141
LSH001 Leishmaniasis 63 2.427
142
PPL052 Papillomatosis, Confluent and Reticulated 34 2.426
143
MSC157 Muscular Dystrophy, Duchenne Type 78 2.425
144
STM007 Stomatitis 52 2.406
145
c 3MT007 3-Methylglutaconic Aciduria 37 2.404
146
P ATR011 Atrial Fibrillation 66 2.401
147
P HRP006 Herpes Simplex 65 2.400
148
P LVR013 Liver Disease 68 2.394
149
ATM095 Autoimmune Disease 61 2.392
150
P KDN018 Kidney Disease 71 2.390
151
47X002 47,xyy 47 2.378
152
ANG054 Angina Pectoris 65 2.368
153
ATR057 Atrioventricular Block 54 2.323
154
KRN002 Kearns-Sayre Syndrome 62 2.322
155
P MLN008 Melanoma 75 2.319
156
P HNT016 Huntington Disease 73 2.302
157
c HPT001 Hepatitis C 61 2.301
158
P MSC003 Muscular Atrophy 52 2.301
159
c SML038 Small Cell Cancer of the Lung 68 2.295
160
P LKM002 Leukemia 65 2.295
161
VLK001 Volkmann Contracture 23 2.281
162
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 62 2.281
163
c LKM063 Leukemia, Chronic Myeloid 70 2.249
164
P HPT023 Hepatocellular Carcinoma 95 2.238
165
WLS001 Wilson Disease 70 2.238
166
MTC201 Mitochondrial Complex V Deficiency, Nuclear Type 6 18 2.235
167
P HYP076 Hyperthyroidism 53 2.233
168
CHL123 Chlamydia 58 2.224
169
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 2.224
170
P HML002 Hemolytic Anemia 62 2.217
171
BLR008 Bilirubin Metabolic Disorder 57 2.197
172
GT001 Gout 63 2.197
173
c PCH010 Pachyonychia Congenita 3 43 2.197
174
CRB090 Cerebral Hypoxia 42 2.190
175
P EPL164 Epilepsy 70 2.189
176
PRP030 Purpura 54 2.173
177
P HPT021 Hepatitis 68 2.170
178
OST012 Osteoarthritis 77 2.163
179
TRM010 Traumatic Brain Injury 50 2.158
180
c PRC016 Pre-Eclampsia 64 2.135
181
STR067 Stroke, Ischemic 79 2.131
182
P HYP086 Hypothyroidism 68 2.128
183
P PRS040 Prostate Cancer 95 2.122
184
c TYP008 Type 1 Diabetes Mellitus 77 2.119
185
c STR084 Stargardt Disease 1 54 2.095
186
DFC004 Deficiency Anemia 74 2.079
187
P SCK005 Sickle Cell Disease 56 2.062
188
P CRD246 Cardiovascular System Disease 55 2.045
189
NRN005 Neuronal Ceroid-Lipofuscinoses 61 2.038
190
PRT036 Peritonitis 65 2.038
191
P GST053 Gastric Cancer 82 2.036
192
SVR004 Severe Combined Immunodeficiency 70 2.034
193
MTC150 Mitochondrial Complex V Deficiency, Mitochondrial Type 1 29 2.031
194
BCT022 Bacterial Infectious Disease 55 2.021
195
STT001 Status Epilepticus 58 2.021
196
P BCL017 B-Cell Lymphoma 57 2.019
197
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 2.018
198
OCL069 Ocular Motor Apraxia 57 2.017
199
P NRP001 Neuropathy 59 2.016
200
P PNC044 Pancreatitis 61 2.009
201
P LPR021 Leprosy 3 71 1.998
202
HNS001 Hansen's Disease 32 1.998
203
P RTN024 Retinoblastoma 72 1.991
204
PRP027 Peripheral Vascular Disease 71 1.989
205
PYR041 Pyruvate Kinase Deficiency of Red Cells 56 1.984
206
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 70 1.977
207
P TMR010 Tumor Predisposition Syndrome 69 1.977
208
INH023 Inherited Cancer-Predisposing Syndrome 53 1.977
209
P PRK039 Parkinsonism 55 1.968
210
P ADN016 Adenocarcinoma 63 1.966
211
IMM167 Immune Deficiency Disease 76 1.957
212
BRN004 Brain Edema 54 1.957
213
ANT024 Anthrax Disease 57 1.956
214
PRS045 Prostatic Hypertrophy 53 1.952
215
SLP001 Sleeping Sickness 56 1.952
216
P CTR002 Cataract 59 1.952
217
P INT143 Interstitial Cystitis 59 1.938
218
P STS003 Sitosterolemia 53 1.938
219
P SZR006 Seizure Disorder 69 1.937
220
P RTN016 Retinal Degeneration 52 1.930
221
c MCR133 Microvascular Complications of Diabetes 4 41 1.929
222
c MCR113 Microvascular Complications of Diabetes 3 52 1.929
223
c MCR130 Microvascular Complications of Diabetes 6 41 1.929
224
c MCR120 Microvascular Complications of Diabetes 7 47 1.929
225
PRS021 Prostatic Adenoma 43 1.916
226
CNG034 Congestive Heart Failure 69 1.913
227
P RTN018 Retinal Disease 53 1.910
228
PRS129 Prostatic Hyperplasia, Benign 48 1.905
229
c ART115 Aortic Valve Disease 1 72 1.887
230
TLN003 Telangiectasis 51 1.885
231
P LKM071 Leukemia, Chronic Lymphocytic 74 1.883
232
P LKM062 Leukemia, Acute Lymphoblastic 69 1.880
233
P ATX030 Ataxia-Telangiectasia 80 1.879
234
P URN019 Urinary Tract Infection 48 1.877
235
c BRN108 Branchiootic Syndrome 1 63 1.874
236
CHL065 Cholangiocarcinoma 57 1.873
237
INT079 Intrahepatic Cholangiocarcinoma 51 1.870
238
P MTC133 Mitochondrial Myopathy 51 1.868
239
P PRK057 Parkinson Disease, Late-Onset 79 1.866
240
MYL069 Myeloma, Multiple 76 1.863
241
HYP014 Hyperuricemia 51 1.858
242
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 31 1.854
243
P FBR017 Fibrosarcoma 55 1.853
244
P RHM011 Rheumatoid Arthritis 81 1.847
245
c MCR115 Microvascular Complications of Diabetes 5 65 1.845
246
c ACT075 Acute Myocardial Infarction 55 1.844
247
MLR004 Malaria 77 1.844
248
CLN015 Colon Adenocarcinoma 64 1.843
249
P BLD134 Bladder Cancer 79 1.841
250
P SKN015 Skin Carcinoma 71 1.838
251
P AST005 Asthma 75 1.835
252
NNL006 Non-Alcoholic Steatohepatitis 54 1.835
253
CND006 Candida Glabrata 29 1.826
254
END086 End Stage Renal Disease 54 1.823
255
HYP005 Hypokalemia 55 1.820
256
CRN030 Coronary Stenosis 50 1.817
257
IMP005 Impotence 52 1.811
258
STR046 Stargardt Macular Degeneration 27 1.804
259
DBN001 Dubin-Johnson Syndrome 58 1.795
260
c HYP595 Hypertension, Essential 84 1.784
261
PNC041 Pancreatic Ductal Adenocarcinoma 51 1.779
262
HYP017 Hypophosphatemia 49 1.776
263
CHG001 Chagas Disease 65 1.776
264
P THR014 Thrombocytopenia 66 1.776
265
RNL114 Renal Cell Carcinoma, Nonpapillary 79 1.776
266
OVR094 Ovarian Epithelial Cancer 39 1.772
267
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 1.767
268
P MLN007 Male Infertility 56 1.710
269
MST004 Mast Cell Neoplasm 41 1.708
270
c ATS347 Autosomal Dominant Polycystic Kidney Disease 64 1.707
271
P RHB003 Rhabdomyosarcoma 66 1.704
272
EXT007 Extracutaneous Mastocytoma 38 1.700
273
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 62 1.687
274
MSC007 Muscle Hypertrophy 64 1.676
275
ALL014 Allergic Encephalomyelitis 34 1.676
276
P BPL003 Bipolar Disorder 56 1.664
277
P TMP001 Temporal Lobe Epilepsy 49 1.663
278
c MJR022 Major Affective Disorder 8 37 1.661
279
c MJR024 Major Affective Disorder 9 40 1.661
280
HYP081 Hypolipoproteinemia 49 1.659
281
P PRP019 Peripheral Nervous System Disease 57 1.649
282
MTC206 Mitochondrial Complex Iv Deficiency, Nuclear Type 5 52 1.648
283
CLT003 Colitis 63 1.647
284
P LPS004 Lupus Erythematosus 61 1.643
285
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 1.641
286
PNG002 Pain Agnosia 51 1.622
287
c SYS001 Systemic Lupus Erythematosus 85 1.618
288
P PRD008 Periodontitis 63 1.615
289
LVR012 Liver Cirrhosis 62 1.609
290
SVR001 Severe Acute Respiratory Syndrome 68 1.608
291
P ART022 Arthritis 70 1.605
292
c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 52 1.604
293
P GRF003 Graft-Versus-Host Disease 71 1.602
294
P ADL010 Adult Respiratory Distress Syndrome 70 1.602
295
P INF032 Infertility 60 1.601
296
P DRM053 Dermatitis, Atopic 65 1.596
297
CRT015 Carotid Artery Occlusion 45 1.589
298
CYS010 Cystinosis 61 1.586
299
P MLT020 Multiple Sclerosis 79 1.576
300
DRM006 Dermatitis 61 1.575
301
DBT010 Diabetic Neuropathy 54 1.559
302
c BLD133 Bleeding Disorder, Platelet-Type, 20 27 1.558
303
P CND004 Candidiasis 57 1.549
304
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 1.547
305
P MLG056 Malignant Hyperthermia 65 1.545
306
BCT004 Bacteriuria 48 1.544
307
P HRD217 Hereditary Optic Neuropathy 36 1.542
308
P NSP012 Nasopharyngeal Carcinoma 60 1.542
309
P MYC008 Myocarditis 59 1.542
310
MTC037 Mitochondrial Phosphate Carrier Deficiency 35 1.537
311
DFC009 Defect in V-Atpase 5 1.536
312
P CCK001 Cockayne Syndrome 67 1.531
313
P HYP121 Hypoalphalipoproteinemia 42 1.528
314
P HYP265 Hypotonia 42 1.527
315
HMS001 Hemosiderosis 48 1.520
316
P GLM007 Glomerulonephritis 59 1.520
317
P RSP003 Respiratory Failure 73 1.519
318
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 1.516
319
DSS032 Disease by Infectious Agent 55 1.516
320
SCH014 Schistosomiasis 56 1.516
321
P RRH023 Rare Hereditary Hemochromatosis 52 1.516
322
MTC004 Mitochondrial Encephalomyopathy 42 1.515
323
c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 51 1.514
324
LYS002 Lysosomal Storage Disease 51 1.506
325
DPH001 Diphtheria 59 1.503
326
ADN001 Adenosine Deaminase Deficiency 59 1.497
327
ESP021 Esophageal Cancer 84 1.494
328
P HDC001 Headache 56 1.486
329
ART035 Arterial Calcification of Infancy 58 1.483
330
P MNC007 Monocytic Leukemia 48 1.482
331
CRV035 Cervical Cancer 72 1.481
332
END040 Endogenous Depression 54 1.478
333
P SPP010 Suppressor of Tumorigenicity 3 50 1.478
334
P SCH015 Schizophrenia 74 1.466
335
MTB016 Metabolic Myopathy 30 1.464
336
FRN006 Frontotemporal Dementia 68 1.461
337
MDD011 Mood Disorder 61 1.459
338
ARG004 Argyria 26 1.458
339
P MTR004 Maturity-Onset Diabetes of the Young 66 1.456
340
INT007 Intermediate Coronary Syndrome 53 1.447
341
INS024 Insulin-Like Growth Factor I 77 1.444
342
c PLM164 Pulmonary Hypertension, Primary, 1 75 1.444
343
NRM005 Neuromuscular Disease 62 1.444
344
SQM006 Squamous Cell Carcinoma 59 1.440
345
THY029 Thyroid Carcinoma 55 1.437
346
SKN016 Skin Disease 63 1.436
347
c TRN032 Transient Neonatal Diabetes Mellitus 48 1.434
348
ACT200 Acute Monoblastic Leukemia 40 1.433
349
XRD010 Xeroderma Pigmentosum, Variant Type 72 1.433
350
c ACT068 Acute Cystitis 60 1.428
351
c DBT044 Diabetes Mellitus, Transient Neonatal, 3 24 1.425
352
P BRS044 Breast Adenocarcinoma 58 1.421
353
c ACT073 Acute Leukemia 59 1.421
354
ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 52 1.416
355
c ACT134 Acute Liver Failure 57 1.416
356
P PLM036 Pulmonary Fibrosis 65 1.414
357
TRN015 Transient Cerebral Ischemia 62 1.411
358
CRB039 Cerebrovascular Disease 65 1.411
359
P CHN059 Chondrocalcinosis 51 1.404
360
RCK004 Rickets 64 1.402
361
HGH043 High Grade Glioma 46 1.398
362
P CNR004 Cone-Rod Dystrophy 2 74 1.396
363
TRY001 Trypanosomiasis 50 1.394
364
PRM329 Premature Aging 36 1.384
365
ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 65 1.383
366
P ART021 Arteriosclerosis 53 1.383
367
P LYN001 Lynch Syndrome 76 1.382
368
PLM010 Pulmonary Edema 54 1.378
369
FRC011 Fructose Intolerance, Hereditary 55 1.374
370
DWN001 Down Syndrome 70 1.373
371
SCK003 Sickle Cell Anemia 74 1.369
372
PRT251 Proteinuria, Chronic Benign 58 1.365
373
GST033 Gestational Diabetes 60 1.359
374
P DNG005 Dengue Virus 55 1.355
375
URM002 Uremia 47 1.355
376
MDD018 Middle East Respiratory Syndrome 44 1.353
377
WLL004 Wallerian Degeneration 38 1.353
378
CMB007 Combined Immunodeficiency 56 1.351
379
P SNS001 Sensorineural Hearing Loss 60 1.344
380
P FNC004 Fanconi Syndrome 60 1.344
381
c LKM070 Leukemia, Acute Monocytic 56 1.340
382
SRC014 Sarcoma 64 1.337
383
P PRP029 Porphyria 60 1.334
384
SPN035 Spindle Cell Sarcoma 51 1.329
385
FML035 Familial Hyperlipidemia 54 1.326
386
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 69 1.326
387
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 62 1.322
388
P OVR082 Overgrowth Syndrome 41 1.317
389
RTN020 Retinal Vascular Disease 45 1.308
390
NRT001 Neurotic Disorder 56 1.298
391
P FML355 Familial Intrahepatic Cholestasis 38 1.298
392
MMM001 Mammary Paget's Disease 53 1.294
393
RTN003 Retinal Ischemia 48 1.294
394
BRC012 Brucellosis 66 1.282
395
HRW001 Hair Whorl 35 1.281
396
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 1.280
397
RNL077 Renal Fibrosis 46 1.277
398
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 1.277
399
P CHN012 Chondrosarcoma 56 1.274
400
P WSK001 Wiskott-Aldrich Syndrome 72 1.274
401
PRP016 Paraplegia 52 1.273
402
CNT056 Cantu Syndrome 48 1.264
403
ULC004 Ulcerative Colitis 74 1.264
404
CBP002 Cebpe-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome 18 1.263
405
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 1.260
406
PST011 Pustulosis of Palm and Sole 52 1.260
407
P PSR002 Psoriasis 63 1.260
408
INT066 Interstitial Lung Disease 60 1.258
409
MTC015 Mitochondrial Dna-Associated Leigh Syndrome and Narp 24 1.253
410
c DBT104 Diabetes Mellitus, Permanent Neonatal, 1 47 1.251
411
ABC001 Abcd Syndrome 44 1.248
412
c ACT135 Acute Graft Versus Host Disease 51 1.248
413
P KDN017 Kidney Cancer 60 1.240
414
HPT004 Hepatic Coma 43 1.240
415
PHS014 Phosphoglycerate Kinase 1 Deficiency 46 1.238
416
P SDR003 Sideroblastic Anemia 49 1.237
417
PST092 Posttransplant Acute Limbic Encephalitis 29 1.232
418
CRN019 Coronary Artery Vasospasm 47 1.229
419
c CHR095 Chronic Progressive External Ophthalmoplegia 48 1.224
420
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 62 1.220
421
SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 44 1.220
422
DMY004 Demyelinating Disease 50 1.220
423
ART016 Aortic Aneurysm 68 1.215
424
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 1.213
425
P EYD002 Eye Disease 57 1.213
426
HMC014 Homocysteinemia 52 1.209
427
P BND020 Bone Disease 60 1.205
428
MNG006 Monogenic Diabetes 45 1.201
429
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 1.197
430
P OST002 Osteoporosis 76 1.197
431
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 1.197
432
P ECL001 Eclampsia 52 1.185
433
SCH016 Schimke Immunoosseous Dysplasia 53 1.183
434
P HYP077 Hypertrichosis 48 1.180
435
P ATS364 Autism 72 1.177
436
LMB062 Limb Ischemia 55 1.177
437
P LNG028 Long Qt Syndrome 63 1.177
438
MST020 Mast Cell Activation Syndrome 27 1.168
439
P TBR001 Tuberous Sclerosis 69 1.165
440
IRN002 Iron Metabolism Disease 56 1.164
441
ANX010 Anxiety 70 1.164
442
c DNT047 Dentinogenesis Imperfecta Type 2 35 1.164
443
INT323 Intraocular Pressure Quantitative Trait Locus 63 1.160
444
GST019 Gastrointestinal Stromal Tumor 78 1.160
445
MTC112 Mitochondrial Dna-Associated Leigh Syndrome 39 1.159
446
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 1.157
447
RHB024 Rhabdomyosarcoma 2 65 1.153
448
CRD223 Cardiac Arrhythmia 63 1.151
449
HRN029 Hearing Loss, Noise-Induced 37 1.148
450
PPL022 Papilloma 53 1.143
451
P FRD001 Friedreich Ataxia 62 1.138
452
P DMN002 Dementia 65 1.138
453
c GLL024 Gallbladder Disease 1 53 1.137
454
SQM002 Squamous Cell Papilloma 45 1.137
455
P GLL022 Guillain-Barre Syndrome 59 1.135
456
SPL018 Splenomegaly 47 1.131
457
P INF037 Inflammatory Bowel Disease 53 1.128
458
ERL001 Early Myoclonic Encephalopathy 62 1.125
459
PRD004 Prediabetes Syndrome 52 1.125
460
PLM134 Pulmonary Fibrosis, Idiopathic 76 1.119
461
c PRG042 Progressive Familial Heart Block, Type Ia 65 1.110
462
PHN003 Phenylketonuria 76 1.107
463
SDD001 Sudden Infant Death Syndrome 60 1.107
464
P MCR010 Microcephaly 59 1.105
465
THR024 Thrombosis 56 1.102
466
HPT019 Hepatic Encephalopathy 59 1.102
467
JPN002 Japanese Encephalitis 61 1.101
468
SFT003 Soft Tissue Sarcoma 43 1.101
469
P CHR071 Charcot-Marie-Tooth Disease 64 1.095
470
HND015 Hand Skill, Relative 29 1.095
471
P UVT001 Uveitis 57 1.095
472
c THY107 Thymoma, Familial 42 1.094
473
P THY023 Thymoma 64 1.094
474
VNT035 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 65 1.087
475
c ATS007 Autism Spectrum Disorder 71 1.086
476
IRR002 Irritable Bowel Syndrome 64 1.086
477
MTH071 Methane Production 24 1.085
478
c FML021 Familial Hypercholesterolemia 71 1.085
479
CLR030 Clear Cell Renal Cell Carcinoma 53 1.082
480
PYR004 Pyuria 36 1.082
481
TTH006 Tooth Disease 51 1.080
482
P BRB001 Beriberi 44 1.080
483
P RHN004 Rhinitis 56 1.080
484
CLR109 Colorectal Adenocarcinoma 50 1.075
485
P INT099 Intrahepatic Cholestasis of Pregnancy 61 1.069
486
c 3MT023 3-Methylglutaconic Aciduria, Type Ix 26 1.069
487
P THL005 Thalassemia 56 1.062
488
MSC152 Muscular Dystrophy, Becker Type 69 1.061
489
ALL006 Allergic Asthma 55 1.058
490
P PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 66 1.054
491
c MTR019 Maturity-Onset Diabetes of the Young, Type 2 53 1.053
492
P NPH012 Nephrotic Syndrome 61 1.053
493
c HPT016 Hepatitis B 62 1.053
494
P PRD021 Periodic Paralysis 42 1.042
495
P BRG001 Brugada Syndrome 69 1.041
496
ADN018 Adenoma 58 1.037
497
HPT022 Hepatoblastoma 54 1.037
498
BCT021 Bacterial Sepsis 43 1.031
499
P ICH004 Ichthyosis 56 1.031
500
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 44 1.031
501
LBR038 Leber Hereditary Optic Neuropathy, Modifier of 62 1.027
502
GST023 Gastric Ulcer 52 1.027
503
P DRR001 Diarrhea 55 1.027
504
P VTR007 Vitreoretinopathy 45 1.025
505
NRG002 Neurogenic Bladder 54 1.023
506
c ATS307 Autosomal Recessive Cerebellar Ataxia 38 1.023
507
c HYP272 Hypercholesterolemia, Familial, 3 46 1.020
508
c BLD140 Blood Group, I System 47 1.020
509
RYS001 Reye Syndrome 49 1.019
510
P ALP008 Alopecia 53 1.019
511
P BNG032 Benign Mesothelioma 53 1.019
512
c CNR005 Cone-Rod Dystrophy 3 40 1.015
513
VTR013 Vitreoretinopathy, Neovascular Inflammatory 62 1.013
514
P AMY004 Amyloidosis 69 1.013
515
P PNM007 Pneumonia 64 1.009
516
c TBR025 Tuberous Sclerosis 1 84 1.007
517
ART004 Aortic Atherosclerosis 46 1.007
518
THR035 Thrombasthenia 48 1.001
519
P ENC004 Encephalitis 61 1.000
520
BRT005 Barth Syndrome 55 0.995
521
P OBS001 Obstructive Jaundice 49 0.995
522
SKN019 Skin Melanoma 70 0.995
523
P INF038 Influenza 68 0.995
524
P END033 Endocarditis 58 0.994
525
FND002 Fundus Dystrophy 54 0.994
526
CRH001 Crohn's Disease 80 0.994
527
P PLY011 Polycystic Ovary Syndrome 57 0.991
528
P RTT002 Rett Syndrome 79 0.991
529
P HYD006 Hydrocephalus 62 0.991
530
PHS025 Phosphatase, Acid, of Tissues 28 0.988
531
MYL031 Myeloproliferative Neoplasm 66 0.981
532
CRB037 Cerebral Palsy 66 0.981
533
c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 45 0.981
534
MST005 Mastitis 52 0.981
535
ONC002 Onchocerciasis 50 0.976
536
HDN002 Head Injury 44 0.976
537
CTN007 Cutaneous Leishmaniasis 61 0.975
538
NRL016 Neural Tube Defects 80 0.970
539
P DYS154 Dystonia 64 0.962
540
P PTS002 Ptosis 52 0.961
541
WST005 West Nile Virus 55 0.956
542
CHL147 Chlamydia Pneumonia 47 0.956
543
HYP006 Hypertensive Heart Disease 48 0.956
544
RTN017 Retinal Detachment 60 0.950
545
RNL065 Renal Cell Carcinoma, Papillary, 1 79 0.948
546
PHS027 Phosphoglycoprotein 1 14 0.946
547
PST053 Postherpetic Neuralgia 39 0.946
548
P NTR004 Neutropenia 62 0.945
549
P PLY018 Polycythemia 56 0.945
550
MLD018 Mild Cognitive Impairment 48 0.940
551
IMM204 Immuno-Osseous Dysplasia 20 0.939
552
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 0.937
553
P SLP006 Sleep Apnea 69 0.935
554
P SCK002 Sick Sinus Syndrome 55 0.935
555
OVR059 Ovary Adenocarcinoma 49 0.934
556
MCK007 Muckle-Wells Syndrome 64 0.931
557
P SLP005 Sleep Disorder 61 0.931
558
WLL006 Wells Syndrome 49 0.931
559
OST015 Osteochondrodysplasia 60 0.929
560
P CYS039 Cystic Kidney Disease 52 0.929
561
BCK006 Back Pain 43 0.929
562
P LYM118 Lymphoma 66 0.927
563
ALC007 Alcohol Dependence 65 0.927
564
P MDL005 Medulloblastoma 75 0.923
565
P MYG005 Myoglobinuria 40 0.923
566
FBR047 Fibromyalgia 57 0.923
567
P HYP370 Hypokalemic Periodic Paralysis, Type 1 64 0.923
568
MLD001 Melioidosis 67 0.919
569
P ART023 Arthropathy 59 0.918
571
c SLV029 Silver-Russell Syndrome 2 26 0.912
572
WLF001 Wolff-Parkinson-White Syndrome 63 0.912
573
GST045 Gastroenteritis 58 0.912
574
MLT006 Multidrug-Resistant Tuberculosis 47 0.912
575
PRT013 Portal Hypertension 59 0.912
576
HLC007 Helicobacter Pylori Infection 67 0.911
577
c ATS013 Autosomal Recessive Congenital Ichthyosis 66 0.906
578
ANK001 Ankylosis 50 0.906
579
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 33 0.906
580
OTT002 Otitis Media 70 0.906
581
EWN003 Ewing Sarcoma 69 0.906
582
PLY001 Polycythemia Vera 69 0.906
583
THY020 Thyroid Hyalinizing Trabecular Adenoma 19 0.906
584
INT075 Intracranial Hypertension 52 0.906
585
CHR178 Chromosomal Triplication 33 0.906
586
ORL015 Oral Squamous Cell Carcinoma 43 0.902
587
WRN001 Werner Syndrome 69 0.902
588
P MTH008 Methylmalonic Acidemia 52 0.902
589
URT010 Ureteral Obstruction 44 0.900
590
c DBT105 Diabetes Mellitus, Permanent Neonatal, 2 27 0.898
591
SPN019 Spondylolisthesis 51 0.898
592
SNG007 Sengers Syndrome 45 0.897
593
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 0.894
594
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 0.894
595
P PGT001 Paget's Disease of Bone 60 0.894
596
PRX001 Peroxisomal Disease 46 0.894
597
P HYP098 Hypereosinophilic Syndrome 66 0.894
598
VLV047 Volvulus of Midgut 55 0.890
599
ADN084 Adenosine Deaminase, Elevated, Hemolytic Anemia Due to 11 0.889
600
c ART067 Aortic Aneurysm, Familial Thoracic 1 61 0.889
601
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 0.888
602
c SPR086 Spermatogenic Failure 3 47 0.888
603
CHR074 Choriocarcinoma 46 0.888
604
OCL006 Ocular Hypertension 53 0.888
605
MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 44 0.888
606
OST062 Osteoarthritis with Mild Chondrodysplasia 46 0.884
607
CHR682 Chronic Bilirubin Encephalopathy 37 0.884
608
WLL001 Williams-Beuren Syndrome 60 0.882
609
PLY100 Polyploidy 36 0.882
610
c HRD010 Hereditary Spastic Paraplegia 65 0.881
611
YLL002 Yellow Fever 61 0.875
612
ANR040 Aneurysm 60 0.875
613
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.869
614
CHR103 Charge Syndrome 65 0.869
615
ENT011 Enterocolitis 55 0.869
616
P ESS003 Essential Thrombocythemia 68 0.869
617
PLM001 Pulmonary Tuberculosis 69 0.862
618
AMN003 Amnestic Disorder 53 0.862
619
SPN020 Spondylosis 46 0.859
620
c HPT003 Hepatitis a 63 0.856
621
ADR016 Adrenal Cortical Carcinoma 61 0.856
622
ADR054 Adrenocortical Carcinoma, Hereditary 47 0.856
623
TST044 Testicular Torsion 45 0.856
624
c FNC025 Fanconi Anemia, Complementation Group J 52 0.856
625
ADR004 Adrenal Cortical Adenocarcinoma 38 0.856
626
P NRF002 Neurofibromatosis 60 0.856
627
CMB107 Combined Oxidative Phosphorylation Deficiency 51 19 0.850
628
MTC008 Mitochondrial Complex Iii Deficiency 35 0.850
629
SLC006 Silicosis 55 0.849
630
P ANT006 Antiphospholipid Syndrome 55 0.849
631
P HYP035 Hypophosphatasia 61 0.849
632
DNT012 Dental Caries 53 0.845
633
FLR002 Filariasis 55 0.845
634
THR004 Thrombocytosis 52 0.842
635
ALC006 Alcoholic Hepatitis 61 0.842
636
ORL011 Oral Cancer 60 0.840
637
BLM001 Bloom Syndrome 65 0.835
638
P END044 Endometriosis 62 0.835
639
P MNN013 Meningitis 65 0.835
640
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 46 0.831
641
c LKM005 Leukemia, T-Cell, Chronic 33 0.831
642
c HNT011 Huntington Disease-Like 3 33 0.827
643
OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 55 0.827
644
P FML018 Familial Mediterranean Fever 73 0.827
645
URT049 Urate Oxidase, Pseudogene 24 0.827
646
DBT084 Diabetes Mellitus, Ketosis-Prone 59 0.827
647
RHM028 Rheumatic Heart Disease 55 0.827
648
P CWD010 Cowden Syndrome 70 0.827
649
P CHL066 Cholangitis 51 0.826
650
c BLD132 Bleeding Disorder, Platelet-Type, 21 22 0.823
651
c MLT139 Multiple Mitochondrial Dysfunctions Syndrome 4 35 0.823
652
CMB072 Combined Oxidative Phosphorylation Deficiency 28 23 0.823
653
LSC001 Lesch-Nyhan Syndrome 62 0.820
654
ERL052 Early Repolarization Associated with Ventricular Fibrillation 22 0.820
655
c CWD006 Cowden Syndrome 1 78 0.820
656
OST017 Osteomyelitis 63 0.820
657
CHL004 Cholelithiasis 48 0.820
658
PTH003 Pathologic Nystagmus 52 0.820
659
PLG002 Plague 58 0.816
660
VSC003 Visceral Leishmaniasis 54 0.816
661
MTR002 Mitral Valve Insufficiency 51 0.812
662
MTH009 Mouth Disease 57 0.812
663
PRP080 Peripheral Artery Disease 54 0.811
664
P GLY013 Glycogen Storage Disease 59 0.811
665
P GLC113 Galactosemia I 65 0.806
666
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 0.806
667
PNC129 Pancreatic Adenocarcinoma 64 0.806
668
PTT037 Pituitary Tumors 44 0.806
669
PRL045 Proline-Negative Auxotroph of Hamster, Complementation of 16 0.804
670
c RTN047 Retinitis Pigmentosa 18 45 0.804
671
EPL050 Epilepsy, Partial, with Pericentral Spikes 26 0.804
672
P EPL140 Epilepsy, Idiopathic Generalized 60 0.804
673
PRX005 Peroxisomal Biogenesis Disorder 35 0.804
674
ACR007 Acromegaly 70 0.804
675
IRN001 Iron Deficiency Anemia 58 0.804
676
SLF014 Sulfite Oxidase Deficiency, Isolated 53 0.802
677
HYP025 Hyperphosphatemia 47 0.800
678
ACR008 Acrocallosal Syndrome 69 0.798
679
c ANM036 Anemia, Sideroblastic, 1 56 0.796
680
DXR001 Doxorubicin Induced Cardiomyopathy 32 0.796
681
BRN028 Brain Cancer 73 0.795
682
BRN024 Bronchitis 67 0.790
683
P ANR048 Aniridia 1 66 0.788
684
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65 0.788
685
ANT039 Antisynthetase Syndrome 55 0.788
686
INC018 Inclusion Body Myopathy with Paget Disease of Bone and Frontotemporal Dementia 51 0.787
687
BNG091 Benign Chronic Pemphigus 56 0.787
688
c SCL052 Scleroderma, Familial Progressive 60 0.787
689
BTN004 Biotin Deficiency 44 0.787
690
HYP141 Hyperphenylalaninemia 42 0.787
691
MSC012 Muscular Dystrophy, Duchenne and Becker Type 33 0.787
692
ATN021 Autoinflammatory Syndrome 30 0.787
693
P OPN001 Open-Angle Glaucoma 55 0.785
694
P TXP001 Toxoplasmosis 59 0.785
695
ERY039 Erythrocyte Amp Deaminase Deficiency 21 0.781
696
CHD001 Chediak-Higashi Syndrome 66 0.779
697
c GLC092 Glaucoma, Primary Open Angle 60 0.779
698
ACT003 Acute Kidney Tubular Necrosis 46 0.779
699
c INH020 Inherited Metabolic Disorder 47 0.779
700
c CCK007 Cockayne Syndrome B 56 0.779
701
c ATM099 Autoimmune Uveitis 44 0.779
702
P TCD001 Tic Disorder 50 0.779
703
LMY002 Leiomyoma 51 0.779
704
PLS007 Plasmodium Falciparum Malaria 52 0.779
705
PRC013 Pericarditis 53 0.779
706
THL003 Thelaziasis 28 0.773
707
c CRD219 Cardiomyopathy, Infantile Hypertrophic 34 0.773
708
3MT013 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome 45 0.773
709
CRD231 Cardiomyopathy, Infantile Histiocytoid 47 0.773
710
PRD033 Periodic Paralysis with Later-Onset Distal Motor Neuropathy 14 0.773
711
AND014 Androgenic Alopecia 46 0.770
712
LMY014 Leiomyoma, Uterine 55 0.770
713
MLT177 Multisystem Proteinopathy 31 0.770
714
P LMY004 Leiomyosarcoma 62 0.770
715
CRY003 Cryptosporidiosis 55 0.770
716
ADG002 Audiogenic Seizures 25 0.770
717
c DYS191 Dystonia 1, Torsion, Autosomal Dominant 47 0.768
718
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 65 0.768
719
P TRM003 Tremor 50 0.768
720
EPT028 Epithelial Basolateral Chloride Conductance Regulator, Rabbit, Homolog of 9 0.764
721
c PRG106 Progressive Muscular Dystrophy 31 0.764
722
LYN004 Lynch Syndrome I 60 0.762
723
P PRN023 Prion Disease 60 0.762
724
PPT005 Peptic Ulcer Disease 58 0.762
725
c 46X071 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 42 0.762
726
MLK006 Milk Allergy 47 0.760
727
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 64 0.760
728
c FRN060 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 6 28 0.760
729
P FRN044 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 64 0.760
730
CHK001 Chikungunya 60 0.760
731
HMP001 Hemopericardium 47 0.760
732
TYP007 Typhoid Fever 63 0.760
733
P PRC012 Pericardial Effusion 50 0.760
734
c VRL010 Viral Hepatitis 52 0.757
735
c HRM009 Hermansky-Pudlak Syndrome 6 46 0.756
736
c HRM011 Hermansky-Pudlak Syndrome 8 35 0.756
737
CMB084 Combined Oxidative Phosphorylation Deficiency 34 23 0.756
738
ADN079 Adenosine Triphosphatase Deficiency, Anemia Due to 8 0.756
739
DFN350 Deafness, Aminoglycoside-Induced 37 0.754
740
P FML023 Familial Hemiplegic Migraine 53 0.751
741
MNK001 Menkes Disease 64 0.751
742
P EXN002 Exanthem 58 0.751
743
P INT068 Intestinal Disease 53 0.751
744
P SCL009 Sclerosing Cholangitis 46 0.751
745
NWC001 Newcastle Disease 47 0.751
746
P INC029 Inclusion Body Myopathy with Early-Onset Paget Disease with or Without Frontotemporal Dementia 1 38 0.750
747
P ALP061 Alopecia, Androgenetic, 1 48 0.750
748
c STS010 Sitosterolemia 1 46 0.750
749
DSS010 Dissociative Disorder 39 0.750
750
P EPD016 Epidermolysis Bullosa 53 0.750
751
P EPD009 Epidermolysis Bullosa Dystrophica 66 0.750
752
IDP091 Idiopathic Nephrotic Syndrome 49 0.750
753
HTC003 Hutchinson-Gilford Progeria Syndrome 65 0.745
754
c BTT014 Beta-Thalassemia 72 0.745
755
BRK010 Burkitt Lymphoma 65 0.745
756
P ANP001 Anaplastic Large Cell Lymphoma 59 0.745
757
P HRD011 Hereditary Spherocytosis 63 0.745
758
c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 56 0.740
759
SRC027 Sarcoma, Synovial 58 0.740
760
c XRD022 Xeroderma Pigmentosum, Complementation Group D 56 0.740
761
c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 58 0.740
762
c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 55 0.740
763
P HMR003 Hemorrhagic Disease 59 0.740
764
MYL005 Myelofibrosis 70 0.739
765
P MGR003 Migraine with Aura 51 0.739
766
OVR063 Overnutrition 42 0.739
767
P DRM010 Dermatomyositis 61 0.739
768
GST092 Gastroesophageal Reflux 59 0.733
769
ART002 Arts Syndrome 66 0.733
770
P TTR001 Tetralogy of Fallot 69 0.733
771
P MLN069 Melanoma, Uveal 59 0.733
772
IRR003 Irritant Dermatitis 47 0.727
773
ENT004 Enthesopathy 51 0.727
774
EMB004 Embryonal Carcinoma 55 0.727
775
PRM236 Primary Biliary Cholangitis 62 0.727
776
P VNW001 Von Willebrand's Disease 64 0.727
777
GLM044 Glomerular Disease 34 0.727
778
RBN014 Robin Sequence with Cleft Mandible and Limb Anomalies 36 0.721
779
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 0.721
780
ADL002 Adult Syndrome 69 0.721
781
END072 Endotheliitis 36 0.721
782
SCN049 Second-Degree Atrioventricular Block 34 0.720
783
VRC005 Varicose Veins 59 0.720
784
SPP011 Suppression of Tumorigenicity 12 61 0.720
785
LYM027 Lymphopenia 56 0.720
786
LST001 Listeriosis 59 0.720
787
c BCT007 Bacterial Meningitis 55 0.720
788
c BCT013 Bacterial Pneumonia 47 0.720
789
CNC002 Cinca Syndrome 65 0.718
790
SRS001 Serous Cystadenocarcinoma 51 0.718
791
P FML052 Familial Cold Autoinflammatory Syndrome 59 0.718
792
TCK004 Tick Infestation 29 0.718
793
P MST009 Mastocytosis 64 0.718
794
CRB086 Cerebral Aneurysms 40 0.718
795
c 2HY001 2-Hydroxyglutaric Aciduria 38 0.714
796
DFF005 Diffuse Large B-Cell Lymphoma 55 0.714
797
MCR013 Microphthalmia 59 0.714
798
KRT009 Keratosis 52 0.707
799
INT002 Intermittent Claudication 61 0.707
800
P ZLL001 Zellweger Syndrome 65 0.707
802
MYT011 Myotonia 37 0.707
803
GRC001 Gracile Syndrome 48 0.706
804
c SCN036 Secondary Progressive Multiple Sclerosis 55 0.700
805
c CHL119 Cholangitis, Primary Sclerosing 57 0.700
806
LFT001 Left Bundle Branch Hemiblock 47 0.700
807
DYS015 Dysentery 49 0.700
808
c DRM054 Dermatitis, Atopic, 2 47 0.694
809
CWM001 Cow Milk Allergy 36 0.694
810
HTT002 Hutterite Cerebroosteonephrodysplasia Syndrome 25 0.694
811
ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 35 0.694
812
HMN047 Human Cytomegalovirus Infection 59 0.694
813
P NRV007 Nervous System Disease 65 0.694
814
c CHR688 Chronic Acquired Demyelinating Polyneuropathy 16 0.694
815
c RTN048 Retinitis Pigmentosa 19 39 0.693
816
HYP780 Hypoadrenocorticism, Familial 61 0.693
817
ADT003 Auditory System Disease 48 0.693
818
ANR004 Anuria 44 0.693
819
MYP159 Myopathy, Proximal, with Ophthalmoplegia 55 0.687
820
c HYP601 Hyperinsulinemic Hypoglycemia, Familial, 3 48 0.687
821
c HRM023 Hermansky-Pudlak Syndrome 11 22 0.687
822
STR085 Striatonigral Degeneration, Infantile 34 0.687
823
CLD014 Cole Disease 39 0.687
824
CNZ002 Coenzyme Q Cytochrome C Reductase Deficiency of 1 0.687
825
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65 0.687
826
P PRG013 Paraganglioma 57 0.687
827
P D2H002 D-2-Hydroxyglutaric Aciduria 1 53 0.687
828
P HMN010 Hemangioma 61 0.687
829
P ACN011 Acne 55 0.687
830
ORL005 Oral Candidiasis 55 0.687
831
HMG002 Hemoglobinuria 50 0.687
832
ADN090 Adenosylcobalamin Deficiency 35 0.687
833
NM001 Noma 37 0.687
834
P RTH006 Rothmund-Thomson Syndrome, Type 2 67 0.679
835
P ATT013 Attention Deficit-Hyperactivity Disorder 65 0.679
836
c GLY004 Glycogen Storage Disease V 62 0.679
837
CHL152 Childhood Acute Lymphocytic Leukemia 50 0.679
838
HYP080 Hypogonadism 49 0.679
839
CVD001 Covid-19 59 0.679
840
GST040 Gastric Adenocarcinoma 66 0.679
841
MLG079 Malignant Pleural Mesothelioma 42 0.679
842
c AMY088 Amyotrophic Lateral Sclerosis 3 33 0.679
843
c PRX045 Peroxisome Biogenesis Disorder 1b 61 0.679
844
CRT013 Carotid Stenosis 51 0.679
845
NTR005 Nutritional Deficiency Disease 60 0.673
846
ALL003 Allergic Rhinitis 66 0.672
847
MTH078 Methylmalonic Aciduria, Cblb Type 47 0.672
848
P FRG001 Fragile X Syndrome 70 0.672
849
P FTL001 Fetal Alcohol Syndrome 55 0.672
850
TND006 Tendinosis 41 0.672
851
TRN018 Transitional Cell Carcinoma 56 0.672
852
HYP026 Hypoglycemic Coma 37 0.672
853
c INH030 Inherited Retinal Disorder 28 0.672
854
MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 59 0.665
856
c GRV008 Graves Disease 1 54 0.665
857
DBT081 Diabetic Encephalopathy 36 0.665
858
P BNC003 Bone Cancer 58 0.665
859
DBT007 Diabetic Cataract 36 0.665
860
P PLY019 Polyneuropathy 52 0.665
861
P SNG014 Singleton-Merten Syndrome 36 0.665
863
CRH005 Crohn's Colitis 53 0.663
864
MLG077 Malignant Peripheral Nerve Sheath Tumor 53 0.663
865
MCC002 Mucocutaneous Leishmaniasis 47 0.663
866
INF034 Infective Endocarditis 53 0.657
867
THR100 Thrombocytopenic Purpura, Autoimmune 60 0.657
868
LPT014 Leptin Deficiency or Dysfunction 77 0.657
869
c MST023 Mesothelioma, Malignant 56 0.657
870
CCC002 Coccidiosis 50 0.657
871
P PYL005 Pyelonephritis 56 0.657
872
CRC021 Carcinosarcoma 62 0.657
873
P RST002 Restrictive Cardiomyopathy 54 0.657
874
PLC008 Placenta Disease 48 0.657
875
c THY109 Thyroid Cancer, Nonmedullary, 1 55 0.649
876
P SPR120 Supranuclear Palsy, Progressive, 1 68 0.649
877
P SLM003 Salmonellosis 54 0.649
878
P SYP003 Syphilis 59 0.649
879
TST014 Testicular Cancer 51 0.649
880
SNL007 Senile Cataract 40 0.649
881
P PRL003 Proliferative Glomerulonephritis 43 0.645
882
LKP003 Leukoplakia 39 0.645
883
P TRN020 Turner Syndrome 67 0.643
884
HMM004 Hamamy Syndrome 39 0.641
885
ILT001 Ileitis 49 0.641
886
CHR100 Chronic Ulcer of Skin 57 0.641
887
c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 48 0.641
888
c HYP841 Hypoalphalipoproteinemia, Primary, 1 50 0.641
889
GTR002 Goiter 52 0.641
890
MNN009 Meningoencephalitis 47 0.641
891
CRY005 Cryptococcosis 61 0.641
892
TCL027 T-Cell Acute Lymphoblastic Leukemia 52 0.641
893
PNM013 Pneumococcal Meningitis 43 0.641
894
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 51 0.638
895
MTB008 Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 42 0.638
896
P ANT080 Antigen Defined by Monoclonal Antibody Aj9 18 0.632
897
c GLY060 Glycogen Storage Disease Ia 62 0.632
898
ANR007 Anorexia Nervosa 59 0.632
899
LYM017 Lyme Disease 63 0.632
900
DWR001 Dwarfism 44 0.632
901
CRT017 Cartilage Disease 52 0.625
902
FML307 Familial Calcium Pyrophosphate Deposition 38 0.625
903
VTM033 Vitamin K Deficiency Bleeding 49 0.624
904
c CRD105 Cardiomyopathy, Dilated, 1o 42 0.623
905
CTR172 Citrullinemia, Classic 64 0.623
906
P PRD006 Prader-Willi Syndrome 60 0.623
907
OBN001 Ouabain Resistance 15 0.623
908
CNZ001 Coenzyme Q10 Deficiency Disease 41 0.623
909
KPS004 Kaposi Sarcoma 76 0.623
910
PCK003 Pick Disease of Brain 70 0.623
911
P ESP024 Esophagitis 60 0.623
912
MCL003 Macular Holes 44 0.623
913
P BRT004 Bartter Disease 58 0.623
914
LYM019 Lymphosarcoma 46 0.623
915
FST010 Fasting Hypoglycemia 33 0.623
916
c RNG012 Ring Chromosome 17 20 0.623
917
ERL030 Early-Onset Generalized Limb-Onset Dystonia 32 0.623
918
GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 48 0.623
919
c PRM166 Primary Interstitial Lung Disease Specific to Childhood Due to Pulmonary Surfactant Protein Anomalies 12 0.623
920
c PRD040 Periodontitis, Chronic 52 0.614
921
P DNT020 Dent Disease 1 63 0.614
922
c DFN155 Deafness, Autosomal Dominant 41 34 0.614
923
LBR036 Leber Plus Disease 67 0.614
924
AMN001 Amenorrhea 53 0.614
925
P LNG035 Lung Large Cell Carcinoma 53 0.614
926
GRD001 Giardiasis 46 0.614
927
P NMN002 Niemann-Pick Disease 60 0.614
928
PLY012 Polyhydramnios 46 0.614
929
MYC019 Mycobacterium Marinum 29 0.614
930
DYT002 Dyt1 Early-Onset Isolated Dystonia 13 0.614
931
P MYC033 Myoclonus 46 0.614
932
CHR066 Chronic Fatigue Syndrome 59 0.606
933
FBR054 Fibroma 44 0.605
934
P CFF008 Coffin-Siris Syndrome 1 63 0.605
935
c MYP138 Myopia 3, Autosomal Dominant 24 0.605
936
PTT048 Pituitary Adenoma, Prolactin-Secreting 64 0.605
938
CMR002 Coumarin Resistance 59 0.605
939
FCL014 Focal Epilepsy 53 0.605
940
NRL005 Neurilemmoma 60 0.605
941
END041 Endometrial Adenocarcinoma 63 0.605
942
LNG039 Lung Squamous Cell Carcinoma 57 0.605
943
BLR002 Bile Reflux 38 0.605
944
RSC001 Rosacea 55 0.605
945
CWP001 Cowpox 44 0.605
946
P THY032 Thyroiditis 56 0.605
947
STN013 Stenotrophomonas Maltophilia Infection 26 0.605
948