Search results for ATP

3368 hits were found for ATP

# Family MCID Name MIFTS Score
1
MTC068 Mitochondrial Complex V Deficiency, Nuclear Type 2 31 23.402
2
PRT037 Pertussis 65 19.781
3
ANX004 Anoxia 40 18.324
4
HYP266 Hypoxia 57 16.063
5
MTC141 Mitochondrial Complex V Deficiency, Nuclear Type 5 35 15.326
6
TNG002 Tangier Disease 64 15.291
7
ISL082 Isolated Atp Synthase Deficiency 25 15.217
8
MTC029 Mitochondrial Complex V Deficiency, Nuclear Type 1 40 14.627
9
HLX001 Helix Syndrome 48 14.297
10
CYS001 Cystic Fibrosis 78 13.375
11
HYP060 Hyperinsulinism 54 11.617
12
P NNT058 Neonatal Diabetes 52 11.569
13
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 67 11.540
14
HYP056 Hypoglycemia 65 11.464
15
ISC004 Ischemia 61 11.071
16
P NRB001 Neuroblastoma 66 10.976
17
TMM013 Tmem70 Defect 18 10.792
18
ADN039 Adenosine Triphosphate, Elevated, of Erythrocytes 19 10.671
19
GLM045 Glioma 63 10.607
20
GLL048 Glial Tumor 52 10.556
21
HYP066 Hyperglycemia 61 10.481
22
INS001 Insulinoma 59 10.007
23
c SRF005 Surfactant Metabolism Dysfunction, Pulmonary, 3 35 9.765
24
48X005 48,xyyy 39 9.717
25
P PHC003 Pheochromocytoma 69 9.589
26
ADR040 Adrenal Gland Pheochromocytoma 46 9.568
27
LPD008 Lipid Metabolism Disorder 62 9.355
28
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 9.164
29
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 9.102
30
NNL005 Non-Alcoholic Fatty Liver Disease 63 8.704
31
FTT001 Fatty Liver Disease 62 8.406
32
c HYP836 Hypercholesterolemia, Familial, 1 73 8.352
33
ATH013 Atherosclerosis Susceptibility 63 8.315
34
CHL014 Cholera 62 8.230
35
P MYP004 Myopathy 67 8.161
36
CRB004 Cerebral Artery Occlusion 45 8.160
37
c DLT002 Dilated Cardiomyopathy 78 7.944
38
c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 51 7.866
39
c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 53 7.866
40
P ALZ034 Alzheimer Disease 87 7.777
41
c ATR087 Atrial Standstill 1 74 7.715
42
ATX038 Ataxia and Polyneuropathy, Adult-Onset 46 7.707
43
P HYP061 Hypertrophic Cardiomyopathy 69 7.672
44
c TYP009 Type 2 Diabetes Mellitus 92 7.651
45
P DBT009 Diabetes Mellitus 67 7.623
46
AGN016 Aging 54 7.495
47
P MTC069 Mitochondrial Disorders 57 7.478
48
CYT002 Cytokine Deficiency 43 7.291
49
LWC001 Low Compliance Bladder 45 7.220
50
P MSC005 Muscular Dystrophy 67 7.110
51
P GLM040 Glioma Susceptibility 1 71 6.986
52
MLG169 Malignant Astrocytoma 57 6.986
53
BRN071 Brain Injury 50 6.976
54
LPP008 Lipoprotein Quantitative Trait Locus 65 6.956
55
GLB002 Glioblastoma 67 6.940
56
P LCT001 Lactic Acidosis 51 6.892
57
P CRN300 Coronary Heart Disease 1 73 6.889
58
MTC005 Mitochondrial Metabolism Disease 45 6.829
59
VCC001 Vaccinia 47 6.828
60
CHL068 Cholestasis 61 6.809
61
OST159 Osteogenic Sarcoma 66 6.785
62
P MYC084 Mycobacterium Tuberculosis 1 68 6.732
63
P BRS047 Breast Cancer 98 6.713
64
c ACT071 Acute Kidney Failure 60 6.665
65
P OVR042 Ovarian Cancer 88 6.641
66
BNR002 Bone Resorption Disease 47 6.623
67
RPD005 Rapidly Involuting Congenital Hemangioma 46 6.606
68
47X002 47,xyy 48 6.594
69
ALL029 Allergic Disease 59 6.584
70
P PLM037 Pulmonary Hypertension 72 6.543
71
LGH007 Leigh Syndrome 70 6.525
72
c MGR028 Migraine with or Without Aura 1 64 6.503
73
CRD132 Cardiac Conduction Defect 60 6.409
74
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 6.383
75
c HPT073 Hepatitis C Virus 71 6.383
76
c AMY091 Amyotrophic Lateral Sclerosis 1 88 6.382
77
P LTR001 Lateral Sclerosis 58 6.382
78
TTN003 Tetanus 65 6.349
79
P HYP750 Hypertriglyceridemia, Familial 62 6.297
80
TXC005 Toxic Shock Syndrome 62 6.295
81
P HRT032 Heart Disease 81 6.291
82
SYN036 Syncope 45 6.206
84
ADR022 Adrenomyeloneuropathy 39 6.146
85
ADR007 Adrenoleukodystrophy 73 6.137
86
P CHR345 Chronic Pain 50 6.126
87
MTB004 Metabolic Acidosis 48 6.096
88
P BDY004 Body Mass Index Quantitative Trait Locus 11 83 5.965
89
c LKM061 Leukemia, Acute Myeloid 83 5.962
90
PLY150 Polykaryocytosis Inducer 29 5.958
91
P CRD119 Cardiac Arrest 67 5.939
92
c OPT053 Optic Atrophy 1 62 5.937
93
SPN186 Spinal Cord Injury 61 5.925
94
P PRM030 Permanent Neonatal Diabetes Mellitus 59 5.876
95
GLC003 Glucose Intolerance 54 5.872
96
ART140 Arteries, Anomalies of 53 5.855
97
P VSC007 Vascular Disease 63 5.837
98
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 5.825
99
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 5.816
100
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 5.816
101
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 5.816
102
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 5.816
103
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 5.816
104
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 5.816
105
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 5.816
106
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 5.816
107
PPL052 Papillomatosis, Confluent and Reticulated 34 5.806
108
P HNT016 Huntington Disease 73 5.801
109
ATR057 Atrioventricular Block 54 5.780
110
NRR001 Neuroretinitis 42 5.776
111
RTN023 Retinitis 46 5.776
112
MYC005 Myocardial Stunning 46 5.733
113
P RTN008 Retinitis Pigmentosa 80 5.697
114
P ENC018 Encephalopathy 62 5.695
115
P MYL006 Myeloid Leukemia 61 5.689
116
HMN044 Human Immunodeficiency Virus Type 1 78 5.681
117
P LNG032 Lung Cancer 98 5.673
118
TRM010 Traumatic Brain Injury 51 5.631
119
P HRP006 Herpes Simplex 65 5.621
120
c ACT027 Acute Pancreatitis 60 5.620
121
P MYC007 Myocardial Infarction 70 5.595
122
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 5.567
123
P LVR013 Liver Disease 69 5.544
124
P CYS018 Cystitis 59 5.532
125
c SML038 Small Cell Cancer of the Lung 69 5.526
126
P PNC035 Pancreatic Cancer 86 5.491
127
P ATR011 Atrial Fibrillation 66 5.476
128
c HPT001 Hepatitis C 62 5.469
129
P HYP050 Hyperinsulinemic Hypoglycemia 57 5.457
130
HMP009 Haemophilus Influenzae 41 5.370
131
PRP030 Purpura 54 5.367
132
VLK001 Volkmann Contracture 23 5.351
133
P LKM002 Leukemia 67 5.333
134
P HPT023 Hepatocellular Carcinoma 96 5.331
135
c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 65 5.288
136
P LNG064 Lung Cancer Susceptibility 3 70 5.283
137
P OPT006 Optic Nerve Disease 58 5.271
138
ACT098 Acute Erythroid Leukemia 55 5.271
139
c LKM063 Leukemia, Chronic Myeloid 71 5.260
140
P CLR023 Colorectal Cancer 100 5.251
141
P PLY014 Polycystic Kidney Disease 69 5.251
142
P HYP076 Hyperthyroidism 53 5.214
143
P KLZ004 Kala-Azar 1 41 5.209
144
LSH001 Leishmaniasis 64 5.209
145
P KDN018 Kidney Disease 72 5.185
146
CHL123 Chlamydia 58 5.169
147
ANG054 Angina Pectoris 66 5.161
148
STM007 Stomatitis 54 5.160
149
ATS010 Autosomal Recessive Disease 42 5.144
150
c PCH010 Pachyonychia Congenita 3 43 5.104
151
CNG034 Congestive Heart Failure 69 5.093
152
PLM129 Pulmonary Disease, Chronic Obstructive 74 5.079
153
CRB090 Cerebral Hypoxia 42 5.076
154
P MLN008 Melanoma 76 5.066
155
P LKM071 Leukemia, Chronic Lymphocytic 75 5.062
156
P HML002 Hemolytic Anemia 62 5.016
157
c CHR684 Chronic Kidney Disease 69 5.005
158
MSC157 Muscular Dystrophy, Duchenne Type 79 4.964
159
P MSC003 Muscular Atrophy 52 4.951
160
P STR022 Stargardt Disease 61 4.930
161
P BCL017 B-Cell Lymphoma 59 4.920
162
P NRP001 Neuropathy 60 4.920
163
GT001 Gout 64 4.908
164
P HYP086 Hypothyroidism 69 4.890
165
c PRC016 Pre-Eclampsia 65 4.862
166
LNG099 Lung Disease 62 4.833
167
CRN030 Coronary Stenosis 50 4.798
168
P EPL164 Epilepsy 68 4.765
169
STR067 Stroke, Ischemic 80 4.755
170
STT001 Status Epilepticus 59 4.753
171
P NRN021 Neuronal Ceroid Lipofuscinosis 65 4.739
172
P GST053 Gastric Cancer 83 4.733
173
BCT022 Bacterial Infectious Disease 56 4.733
174
P PRS040 Prostate Cancer 95 4.678
175
MNT002 Mental Depression 57 4.668
176
P THR014 Thrombocytopenia 66 4.668
177
ATM095 Autoimmune Disease 61 4.666
178
NRP045 Neuropathy, Ataxia, and Retinitis Pigmentosa 47 4.622
179
P SZR006 Seizure Disorder 70 4.608
180
DPR016 Depression 65 4.607
181
WLS001 Wilson Disease 70 4.561
182
c MCR130 Microvascular Complications of Diabetes 6 41 4.557
183
c MCR120 Microvascular Complications of Diabetes 7 47 4.557
184
c MCR113 Microvascular Complications of Diabetes 3 52 4.557
185
c MCR133 Microvascular Complications of Diabetes 4 41 4.557
186
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 80 4.556
187
P PSD087 Pseudoxanthoma Elasticum 67 4.555
188
SVR004 Severe Combined Immunodeficiency 72 4.538
189
P PRK057 Parkinson Disease, Late-Onset 80 4.518
190
PRT036 Peritonitis 65 4.517
191
P MTC133 Mitochondrial Myopathy 50 4.508
192
BRN004 Brain Edema 54 4.495
193
HYP014 Hyperuricemia 51 4.488
194
SLP001 Sleeping Sickness 56 4.474
195
PRS045 Prostatic Hypertrophy 53 4.474
196
BLR008 Bilirubin Metabolic Disorder 57 4.462
197
CRT015 Carotid Artery Occlusion 45 4.450
198
P RTN024 Retinoblastoma 73 4.447
199
P BPL003 Bipolar Disorder 56 4.445
200
c MJR022 Major Affective Disorder 8 38 4.435
201
c MJR024 Major Affective Disorder 9 41 4.435
202
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 4.423
203
P INT143 Interstitial Cystitis 60 4.419
204
P PRK039 Parkinsonism 55 4.409
205
P MJR001 Major Depressive Disorder 68 4.395
206
P RTN016 Retinal Degeneration 52 4.375
207
MYL069 Myeloma, Multiple 77 4.365
208
P BLD134 Bladder Cancer 79 4.355
209
P CTR002 Cataract 60 4.355
210
DFC004 Deficiency Anemia 74 4.342
211
P LKM062 Leukemia, Acute Lymphoblastic 69 4.333
212
PRS021 Prostatic Adenoma 43 4.330
213
c MCR115 Microvascular Complications of Diabetes 5 65 4.309
214
IMM167 Immune Deficiency Disease 78 4.308
215
IMP005 Impotence 52 4.307
216
MLR004 Malaria 80 4.299
217
c BRN108 Branchiootic Syndrome 1 62 4.288
218
P LPR021 Leprosy 3 71 4.288
219
HNS001 Hansen's Disease 32 4.288
220
PRS129 Prostatic Hyperplasia, Benign 49 4.285
221
P RHM011 Rheumatoid Arthritis 82 4.254
222
NNL006 Non-Alcoholic Steatohepatitis 54 4.253
223
PRP027 Peripheral Vascular Disease 71 4.252
224
KRN002 Kearns-Sayre Syndrome 63 4.238
225
OCL069 Ocular Motor Apraxia 57 4.198
226
c TYP008 Type 1 Diabetes Mellitus 70 4.197
227
P ADN016 Adenocarcinoma 63 4.174
228
P INF032 Infertility 57 4.164
229
ANT024 Anthrax Disease 58 4.130
230
P MLN007 Male Infertility 56 4.123
231
c HYP595 Hypertension, Essential 85 4.117
232
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 4.087
233
OST012 Osteoarthritis 77 4.082
234
P HPT021 Hepatitis 69 4.082
235
CLT003 Colitis 63 4.077
236
P ART022 Arthritis 71 4.066
237
P SKN015 Skin Carcinoma 71 4.023
238
c CRD186 Ceroid Lipofuscinosis, Neuronal, 3 63 4.006
239
P PNC044 Pancreatitis 61 4.004
240
P RTN018 Retinal Disease 53 3.998
241
P SCK005 Sickle Cell Disease 56 3.994
242
TLN003 Telangiectasis 51 3.969
243
HYP017 Hypophosphatemia 49 3.958
244
CHG001 Chagas Disease 66 3.958
245
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 68 3.953
246
P ATX030 Ataxia-Telangiectasia 80 3.943
247
PYR041 Pyruvate Kinase Deficiency of Red Cells 57 3.942
248
P HRD217 Hereditary Optic Neuropathy 36 3.942
249
P FBR017 Fibrosarcoma 56 3.877
250
P LPS004 Lupus Erythematosus 61 3.877
251
URM002 Uremia 47 3.865
252
P PRP019 Peripheral Nervous System Disease 58 3.852
253
PNC041 Pancreatic Ductal Adenocarcinoma 51 3.851
254
CLN015 Colon Adenocarcinoma 65 3.850
255
PRT251 Proteinuria, Chronic Benign 57 3.821
256
NRN005 Neuronal Ceroid-Lipofuscinoses 61 3.816
257
P URN019 Urinary Tract Infection 49 3.812
258
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 3.804
259
c 3MT007 3-Methylglutaconic Aciduria 37 3.789
260
CHL065 Cholangiocarcinoma 58 3.769
261
CND006 Candida Glabrata 30 3.767
262
c ACT075 Acute Myocardial Infarction 56 3.767
263
INT079 Intrahepatic Cholangiocarcinoma 51 3.755
264
P MLT020 Multiple Sclerosis 79 3.753
265
c SYS001 Systemic Lupus Erythematosus 87 3.752
266
c ACT134 Acute Liver Failure 59 3.749
267
ALL014 Allergic Encephalomyelitis 34 3.749
268
RNL114 Renal Cell Carcinoma, Nonpapillary 80 3.720
269
PNG002 Pain Agnosia 51 3.720
270
P PRD008 Periodontitis 64 3.714
271
P TMP001 Temporal Lobe Epilepsy 49 3.709
272
P MLG056 Malignant Hyperthermia 66 3.697
273
P GRF003 Graft-Versus-Host Disease 71 3.688
274
P ADL010 Adult Respiratory Distress Syndrome 71 3.688
275
P MYC008 Myocarditis 59 3.684
276
CRV035 Cervical Cancer 73 3.683
277
THY029 Thyroid Carcinoma 51 3.646
278
P RSP003 Respiratory Failure 74 3.646
279
P SCH015 Schizophrenia 74 3.621
280
MDD011 Mood Disorder 62 3.621
281
P MTR004 Maturity-Onset Diabetes of the Young 68 3.583
282
P AST005 Asthma 76 3.573
283
OVR094 Ovarian Epithelial Cancer 39 3.563
284
P STS003 Sitosterolemia 53 3.559
285
INS024 Insulin-Like Growth Factor I 78 3.557
286
MSC007 Muscle Hypertrophy 64 3.556
287
XLN206 X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome 31 3.552
288
MTC030 Mitochondrial Complex V Deficiency, Nuclear Type 3 35 3.535
289
LVR012 Liver Cirrhosis 63 3.531
290
DPH001 Diphtheria 59 3.528
291
SQM006 Squamous Cell Carcinoma 60 3.505
292
P CRD246 Cardiovascular System Disease 56 3.493
293
c ATS347 Autosomal Dominant Polycystic Kidney Disease 66 3.487
294
DBT010 Diabetic Neuropathy 54 3.485
295
DBN001 Dubin-Johnson Syndrome 57 3.481
296
P RHB003 Rhabdomyosarcoma 66 3.472
297
P CND004 Candidiasis 58 3.471
298
HYP005 Hypokalemia 55 3.461
299
SVR001 Severe Acute Respiratory Syndrome 67 3.458
300
P PLM036 Pulmonary Fibrosis 66 3.439
301
P NSP012 Nasopharyngeal Carcinoma 61 3.428
302
TRN015 Transient Cerebral Ischemia 63 3.425
303
CRB039 Cerebrovascular Disease 66 3.412
304
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 3.404
305
CYS010 Cystinosis 62 3.399
306
DSS032 Disease by Infectious Agent 55 3.384
307
P HYP265 Hypotonia 42 3.369
308
ARG004 Argyria 26 3.347
309
P MNC007 Monocytic Leukemia 47 3.343
310
MTC150 Mitochondrial Complex V Deficiency, Mitochondrial Type 1 29 3.329
311
c ART115 Aortic Valve Disease 1 74 3.328
312
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 3.310
313
SCH014 Schistosomiasis 56 3.310
314
MST004 Mast Cell Neoplasm 42 3.306
315
END086 End Stage Renal Disease 52 3.305
316
c PLM164 Pulmonary Hypertension, Primary, 1 76 3.289
317
NRM005 Neuromuscular Disease 63 3.289
318
PRM329 Premature Aging 36 3.287
319
EXT007 Extracutaneous Mastocytoma 38 3.272
320
ADN001 Adenosine Deaminase Deficiency 59 3.264
321
ESP021 Esophageal Cancer 83 3.249
322
SKN016 Skin Disease 63 3.244
323
HMS001 Hemosiderosis 48 3.244
324
P RRH023 Rare Hereditary Hemochromatosis 54 3.229
325
SRC014 Sarcoma 65 3.229
326
BCT004 Bacteriuria 47 3.228
327
XRD010 Xeroderma Pigmentosum, Variant Type 73 3.214
328
SPN035 Spindle Cell Sarcoma 54 3.200
329
P DNG005 Dengue Virus 56 3.200
330
GST033 Gestational Diabetes 61 3.200
331
c ACT073 Acute Leukemia 58 3.199
332
STR046 Stargardt Macular Degeneration 27 3.193
333
P DRM053 Dermatitis, Atopic 65 3.193
334
P SPP010 Suppressor of Tumorigenicity 3 51 3.186
335
CMB007 Combined Immunodeficiency 57 3.185
336
P BRS044 Breast Adenocarcinoma 58 3.184
337
P CCK001 Cockayne Syndrome 68 3.179
338
PRP016 Paraplegia 52 3.171
339
DWN001 Down Syndrome 70 3.157
340
P FNC004 Fanconi Syndrome 60 3.125
341
RCK004 Rickets 68 3.121
342
P HDC001 Headache 57 3.121
343
MTC004 Mitochondrial Encephalomyopathy 42 3.112
344
DRM006 Dermatitis 62 3.107
345
HGH043 High Grade Glioma 45 3.105
346
IRN002 Iron Metabolism Disease 57 3.094
347
TRY001 Trypanosomiasis 50 3.089
348
LYS002 Lysosomal Storage Disease 51 3.077
349
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 3.066
350
HPT004 Hepatic Coma 43 3.039
351
c STR084 Stargardt Disease 1 53 3.026
352
P GLM007 Glomerulonephritis 60 3.024
353
P KDN017 Kidney Cancer 61 3.024
354
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 63 3.014
355
PST092 Posttransplant Acute Limbic Encephalitis 28 3.009
356
c ACT068 Acute Cystitis 61 2.986
357
PLM010 Pulmonary Edema 55 2.974
358
ALC007 Alcohol Dependence 66 2.949
359
P INF037 Inflammatory Bowel Disease 53 2.949
360
THR024 Thrombosis 56 2.947
361
ULC004 Ulcerative Colitis 74 2.935
362
RTN003 Retinal Ischemia 49 2.935
363
MDD018 Middle East Respiratory Syndrome 44 2.923
364
WLL004 Wallerian Degeneration 38 2.923
365
HMC014 Homocysteinemia 52 2.915
366
P EYD002 Eye Disease 57 2.915
367
ACT200 Acute Monoblastic Leukemia 41 2.905
368
HRW001 Hair Whorl 35 2.902
369
P BND020 Bone Disease 59 2.899
370
FRN006 Frontotemporal Dementia 68 2.896
371
RNL077 Renal Fibrosis 46 2.868
372
P PLY011 Polycystic Ovary Syndrome 57 2.867
373
HPT019 Hepatic Encephalopathy 59 2.843
374
SCK003 Sickle Cell Anemia 74 2.841
375
INT007 Intermediate Coronary Syndrome 54 2.838
376
P ECL001 Eclampsia 52 2.818
377
CNT056 Cantu Syndrome 48 2.816
378
P PSR002 Psoriasis 63 2.816
379
PST011 Pustulosis of Palm and Sole 52 2.816
380
P SNS001 Sensorineural Hearing Loss 59 2.816
381
c THY107 Thymoma, Familial 42 2.811
382
P THY023 Thymoma 64 2.811
383
ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 65 2.803
384
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 57 2.799
385
LMB062 Limb Ischemia 55 2.784
386
P FML355 Familial Intrahepatic Cholestasis 42 2.784
387
IRR002 Irritable Bowel Syndrome 65 2.779
388
P HYP121 Hypoalphalipoproteinemia 43 2.764
389
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 2.763
390
c LKM070 Leukemia, Acute Monocytic 56 2.763
391
P ATS364 Autism 69 2.750
392
ANX010 Anxiety 70 2.750
393
MST020 Mast Cell Activation Syndrome 28 2.750
394
P DYS154 Dystonia 64 2.748
395
RTN020 Retinal Vascular Disease 46 2.742
396
c ATS007 Autism Spectrum Disorder 72 2.731
397
c DNT047 Dentinogenesis Imperfecta Type 2 35 2.715
398
c PRG047 Progressive Familial Intrahepatic Cholestasis 64 2.698
399
CRN019 Coronary Artery Vasospasm 47 2.690
400
P ART021 Arteriosclerosis 54 2.684
401
P THL005 Thalassemia 56 2.681
402
CRD223 Cardiac Arrhythmia 63 2.680
403
ALL006 Allergic Asthma 56 2.664
404
INT323 Intraocular Pressure Quantitative Trait Locus 64 2.662
405
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 62 2.652
406
SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 44 2.652
407
c CHR095 Chronic Progressive External Ophthalmoplegia 49 2.652
408
DMY004 Demyelinating Disease 50 2.652
409
MTC201 Mitochondrial Complex V Deficiency, Nuclear Type 6 18 2.639
410
P SLP006 Sleep Apnea 69 2.639
411
P SCK002 Sick Sinus Syndrome 55 2.639
412
c CRD086 Cardiomyopathy, Familial Hypertrophic, 1 69 2.633
413
ART016 Aortic Aneurysm 68 2.633
414
P FRD001 Friedreich Ataxia 61 2.626
415
GST019 Gastrointestinal Stromal Tumor 78 2.626
416
P LYM118 Lymphoma 67 2.623
417
P WSK001 Wiskott-Aldrich Syndrome 72 2.604
418
P CHN012 Chondrosarcoma 57 2.604
419
P BRG001 Brugada Syndrome 69 2.595
420
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 50 2.561
421
P DRR001 Diarrhea 55 2.560
422
GST023 Gastric Ulcer 52 2.542
423
INT066 Interstitial Lung Disease 60 2.541
424
P OVR082 Overgrowth Syndrome 49 2.534
425
c ATS307 Autosomal Recessive Cerebellar Ataxia 39 2.524
426
MTC015 Mitochondrial Dna-Associated Leigh Syndrome and Narp 17 2.520
427
P CHN059 Chondrocalcinosis 52 2.513
428
c TRN032 Transient Neonatal Diabetes Mellitus 47 2.508
429
WRN001 Werner Syndrome 69 2.508
430
LBR038 Leber Hereditary Optic Neuropathy, Modifier of 62 2.506
431
c ACT135 Acute Graft Versus Host Disease 51 2.498
432
P HYP077 Hypertrichosis 46 2.494
433
c PRG042 Progressive Familial Heart Block, Type Ia 66 2.494
434
P MCR010 Microcephaly 60 2.494
435
c DBT105 Diabetes Mellitus, Permanent Neonatal, 2 27 2.491
436
ORL015 Oral Squamous Cell Carcinoma 43 2.491
437
P MTH008 Methylmalonic Acidemia 52 2.491
438
P BNG032 Benign Mesothelioma 53 2.488
439
P CNR004 Cone-Rod Dystrophy 2 74 2.466
440
VLV047 Volvulus of Midgut 52 2.457
441
P CHR071 Charcot-Marie-Tooth Disease 64 2.454
442
BCK006 Back Pain 47 2.454
443
P LNG028 Long Qt Syndrome 64 2.450
444
P PNM007 Pneumonia 67 2.450
445
MMM001 Mammary Paget's Disease 53 2.442
446
P ENC004 Encephalitis 61 2.432
447
CHR066 Chronic Fatigue Syndrome 60 2.431
448
P TBR001 Tuberous Sclerosis 69 2.431
449
c HRD010 Hereditary Spastic Paraplegia 66 2.422
450
c ICH069 Ichthyosis, Congenital, Autosomal Recessive 4b 52 2.420
451
MTH071 Methane Production 25 2.414
452
BRT005 Barth Syndrome 56 2.412
453
P INF038 Influenza 68 2.412
454
P LYN001 Lynch Syndrome 76 2.409
455
MTC112 Mitochondrial Dna-Associated Leigh Syndrome 32 2.409
456
BRC012 Brucellosis 66 2.394
457
P RTT002 Rett Syndrome 79 2.393
458
P DMN002 Dementia 66 2.393
459
P HYD006 Hydrocephalus 61 2.393
460
P BRB001 Beriberi 44 2.393
461
TTH006 Tooth Disease 51 2.393
462
c FML021 Familial Hypercholesterolemia 72 2.393
463
P OBS001 Obstructive Jaundice 48 2.374
464
CLR109 Colorectal Adenocarcinoma 50 2.372
465
P RHN004 Rhinitis 57 2.372
466
HRN029 Hearing Loss, Noise-Induced 37 2.365
467
c HYP807 Hyperinsulinemic Hypoglycemia, Familial, 6 52 2.352
468
P SDR003 Sideroblastic Anemia 51 2.342
469
PPL022 Papilloma 53 2.342
470
ONC002 Onchocerciasis 51 2.334
471
HDN002 Head Injury 44 2.334
472
FRC011 Fructose Intolerance, Hereditary 55 2.322
473
SQM002 Squamous Cell Papilloma 46 2.320
474
CBP002 Cebpe-Associated Autoinflammation-Immunodeficiency-Neutrophil Dysfunction Syndrome 19 2.319
475
MST005 Mastitis 53 2.314
476
END040 Endogenous Depression 55 2.302
477
c GLL024 Gallbladder Disease 1 52 2.296
478
SPL018 Splenomegaly 49 2.296
479
MTB016 Metabolic Myopathy 30 2.295
480
P NTR004 Neutropenia 63 2.294
481
ART035 Arterial Calcification of Infancy 58 2.293
482
c MTR019 Maturity-Onset Diabetes of the Young, Type 2 53 2.286
483
P NPH012 Nephrotic Syndrome 60 2.286
484
FLR002 Filariasis 55 2.275
485
ERL001 Early Myoclonic Encephalopathy 62 2.273
486
DNT012 Dental Caries 53 2.256
487
ORL011 Oral Cancer 60 2.256
488
WST005 West Nile Virus 57 2.252
489
CHL147 Chlamydia Pneumonia 47 2.252
490
HYP006 Hypertensive Heart Disease 49 2.252
491
P PRD021 Periodic Paralysis 41 2.241
492
ADN018 Adenoma 59 2.241
493
c HPT016 Hepatitis B 62 2.241
494
MTC206 Mitochondrial Complex Iv Deficiency, Nuclear Type 5 52 2.241
495
SCH016 Schimke Immunoosseous Dysplasia 53 2.238
496
P END044 Endometriosis 62 2.237
497
P MNN013 Meningitis 65 2.237
498
HYP081 Hypolipoproteinemia 49 2.234
499
RTN017 Retinal Detachment 60 2.231
500
c HYP304 Hyperinsulinemic Hypoglycemia, Familial, 1 61 2.230
501
HPT022 Hepatoblastoma 54 2.219
502
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 46 2.218
503
PLM134 Pulmonary Fibrosis, Idiopathic 76 2.210
504
SDD001 Sudden Infant Death Syndrome 60 2.200
505
PHN003 Phenylketonuria 76 2.200
506
P CHL066 Cholangitis 52 2.198
507
BCT021 Bacterial Sepsis 43 2.195
508
P ICH004 Ichthyosis 56 2.195
509
MLD018 Mild Cognitive Impairment 48 2.188
510
P PLY018 Polycythemia 56 2.188
511
c LKM005 Leukemia, T-Cell, Chronic 34 2.178
512
JPN002 Japanese Encephalitis 61 2.175
513
P VTR007 Vitreoretinopathy 46 2.172
514
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 45 2.172
515
OVR059 Ovary Adenocarcinoma 49 2.166
516
P INT099 Intrahepatic Cholestasis of Pregnancy 62 2.166
517
VSC003 Visceral Leishmaniasis 55 2.158
518
PLG002 Plague 58 2.158
519
HND015 Hand Skill, Relative 30 2.149
520
P ALP008 Alopecia 54 2.148
521
RYS001 Reye Syndrome 49 2.148
522
P OST002 Osteoporosis 76 2.146
523
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 2.146
524
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 2.146
525
P CYS039 Cystic Kidney Disease 53 2.144
526
PRP080 Peripheral Artery Disease 54 2.137
527
END057 Endometrial Cancer 72 2.131
528
VTR013 Vitreoretinopathy, Neovascular Inflammatory 62 2.124
529
P AMY004 Amyloidosis 70 2.124
530
P UVT001 Uveitis 57 2.123
531
FBR047 Fibromyalgia 58 2.122
532
P MYG005 Myoglobinuria 40 2.122
533
P GLY013 Glycogen Storage Disease 60 2.117
534
P ALC033 Alcohol Use Disorder 61 2.114
535
c TBR025 Tuberous Sclerosis 1 84 2.099
536
P MDL005 Medulloblastoma 75 2.099
537
P ART023 Arthropathy 61 2.099
538
CLR030 Clear Cell Renal Cell Carcinoma 54 2.097
539
PYR004 Pyuria 36 2.097
540
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 2.096
541
HYP025 Hyperphosphatemia 48 2.096
542
PNC129 Pancreatic Adenocarcinoma 65 2.096
543
P MYT002 Myotonic Dystrophy 51 2.079
544
c SLV029 Silver-Russell Syndrome 2 26 2.075
545
WLF001 Wolff-Parkinson-White Syndrome 65 2.075
546
MLT006 Multidrug-Resistant Tuberculosis 47 2.075
547
PRT013 Portal Hypertension 59 2.075
548
GST045 Gastroenteritis 58 2.075
549
SKN019 Skin Melanoma 71 2.075
550
PTT037 Pituitary Tumors 44 2.075
551
P END033 Endocarditis 58 2.074
552
THR035 Thrombasthenia 48 2.074
553
P PRP029 Porphyria 60 2.071
554
BRN028 Brain Cancer 74 2.054
555
BRN024 Bronchitis 67 2.054
556
MNG006 Monogenic Diabetes 44 2.054
557
HYP806 Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy 32 2.052
558
EWN003 Ewing Sarcoma 70 2.052
559
INT075 Intracranial Hypertension 53 2.052
560
THY020 Thyroid Hyalinizing Trabecular Adenoma 20 2.052
561
PHS014 Phosphoglycerate Kinase 1 Deficiency 45 2.044
562
P GLL022 Guillain-Barre Syndrome 60 2.044
563
P GLC113 Galactosemia I 66 2.032
564
PLY001 Polycythemia Vera 69 2.028
565
URT010 Ureteral Obstruction 45 2.028
566
FML035 Familial Hyperlipidemia 55 2.028
567
PHS025 Phosphatase, Acid, of Tissues 28 2.022
568
MSC152 Muscular Dystrophy, Becker Type 69 2.013
569
c HYP841 Hypoalphalipoproteinemia, Primary, 1 49 2.013
570
CHD001 Chediak-Higashi Syndrome 67 2.010
571
ACT003 Acute Kidney Tubular Necrosis 46 2.010
572
P OPN001 Open-Angle Glaucoma 55 2.010
573
c INH020 Inherited Metabolic Disorder 48 2.010
574
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 2.004
575
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 2.004
576
PRX001 Peroxisomal Disease 46 2.004
577
P HYP098 Hypereosinophilic Syndrome 66 2.004
578
P PGT001 Paget's Disease of Bone 61 2.004
579
CRH001 Crohn's Disease 80 1.995
580
c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 45 1.995
581
MYL031 Myeloproliferative Neoplasm 66 1.995
582
CRB037 Cerebral Palsy 67 1.995
583
c GLC092 Glaucoma, Primary Open Angle 62 1.988
584
c SPR086 Spermatogenic Failure 3 46 1.979
585
OCL006 Ocular Hypertension 53 1.979
586
CHR074 Choriocarcinoma 46 1.979
587
ANM046 Anemia, Sideroblastic, and Spinocerebellar Ataxia 52 1.979
588
MND021 Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome 66 1.965
589
c DYS191 Dystonia 1, Torsion, Autosomal Dominant 47 1.965
590
P TRM003 Tremor 48 1.965
591
NRL016 Neural Tube Defects 81 1.961
592
c PLY170 Polycystic Kidney Disease 4 with or Without Polycystic Liver Disease 63 1.955
593
WLL001 Williams-Beuren Syndrome 61 1.954
594
PPT005 Peptic Ulcer Disease 58 1.942
595
P PRN023 Prion Disease 60 1.942
596
P TXP001 Toxoplasmosis 60 1.942
597
PLY100 Polyploidy 36 1.928
598
YLL002 Yellow Fever 61 1.928
599
CTN007 Cutaneous Leishmaniasis 62 1.912
600
P PTS002 Ptosis 52 1.912
601
c BLD133 Bleeding Disorder, Platelet-Type, 20 25 1.906
602
CHR103 Charge Syndrome 66 1.902
603
ENT011 Enterocolitis 55 1.902
604
P ESS003 Essential Thrombocythemia 69 1.902
605
P GST044 Gastritis 55 1.898
606
MNK001 Menkes Disease 64 1.896
607
P EXN002 Exanthem 58 1.896
608
P SCL009 Sclerosing Cholangitis 48 1.896
609
P INT068 Intestinal Disease 53 1.896
610
NWC001 Newcastle Disease 47 1.896
611
CVD001 Covid-19 57 1.893
612
PLM001 Pulmonary Tuberculosis 69 1.876
613
AMN003 Amnestic Disorder 54 1.876
614
BRK010 Burkitt Lymphoma 66 1.872
615
P ANP001 Anaplastic Large Cell Lymphoma 61 1.872
616
c BTT014 Beta-Thalassemia 72 1.872
617
P FML023 Familial Hemiplegic Migraine 53 1.872
618
c VRL010 Viral Hepatitis 53 1.872
619
P HRD011 Hereditary Spherocytosis 64 1.872
620
CHR178 Chromosomal Triplication 34 1.872
621
NRG002 Neurogenic Bladder 55 1.861
622
PRD004 Prediabetes Syndrome 52 1.855
623
PHS027 Phosphoglycoprotein 1 15 1.854
624
PST053 Postherpetic Neuralgia 40 1.854
625
c HPT003 Hepatitis a 63 1.852
626
ADR016 Adrenal Cortical Carcinoma 62 1.848
627
ADR054 Adrenocortical Carcinoma, Hereditary 47 1.848
628
c FNC025 Fanconi Anemia, Complementation Group J 52 1.848
629
TST044 Testicular Torsion 45 1.848
630
ADR004 Adrenal Cortical Adenocarcinoma 38 1.848
631
P NRF002 Neurofibromatosis 57 1.848
632
HTC003 Hutchinson-Gilford Progeria Syndrome 65 1.847
633
OVR063 Overnutrition 42 1.847
634
P DRM010 Dermatomyositis 61 1.847
635
CRD137 Cardiogenic Shock 56 1.840
636
CNS004 Constipation 56 1.840
637
IMM204 Immuno-Osseous Dysplasia 19 1.823
638
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 1.823
639
ART002 Arts Syndrome 66 1.823
640
P MLN069 Melanoma, Uveal 61 1.823
641
GST092 Gastroesophageal Reflux 61 1.823
642
c DBT044 Diabetes Mellitus, Transient Neonatal, 3 23 1.823
643
MYL005 Myelofibrosis 71 1.823
644
P TTR001 Tetralogy of Fallot 69 1.823
645
MTC037 Mitochondrial Phosphate Carrier Deficiency 35 1.821
646
P ANT006 Antiphospholipid Syndrome 55 1.821
647
SLC006 Silicosis 56 1.821
648
P HYP035 Hypophosphatasia 62 1.821
649
MYL009 Myelodysplastic Syndrome 67 1.801
650
P VNW001 Von Willebrand's Disease 65 1.798
651
PRM236 Primary Biliary Cholangitis 60 1.798
652
IRR003 Irritant Dermatitis 47 1.798
653
EMB004 Embryonal Carcinoma 56 1.798
654
ENT004 Enthesopathy 51 1.798
655
ART004 Aortic Atherosclerosis 47 1.794
656
SFT003 Soft Tissue Sarcoma 57 1.794
657
OTT002 Otitis Media 71 1.792
658
ALC006 Alcoholic Hepatitis 61 1.792
659
THR004 Thrombocytosis 53 1.792
660
MCK007 Muckle-Wells Syndrome 64 1.792
661
P SLP005 Sleep Disorder 61 1.792
662
WLL006 Wells Syndrome 49 1.792
663
c BCT007 Bacterial Meningitis 55 1.772
664
SCN049 Second-Degree Atrioventricular Block 33 1.772
665
VRC005 Varicose Veins 60 1.772
666
LYM027 Lymphopenia 56 1.772
667
LST001 Listeriosis 59 1.772
668
ANR040 Aneurysm 61 1.772
669
P HYP370 Hypokalemic Periodic Paralysis, Type 1 64 1.760
670
SPP011 Suppression of Tumorigenicity 12 61 1.746
671
DFF005 Diffuse Large B-Cell Lymphoma 54 1.746
672
c 2HY001 2-Hydroxyglutaric Aciduria 38 1.746
673
c BCT013 Bacterial Pneumonia 48 1.746
674
MCR013 Microphthalmia 60 1.746
675
MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 44 1.746
676
c FNC027 Fanconi Anemia, Complementation Group a 81 1.740
677
BLM001 Bloom Syndrome 65 1.740
678
P FML018 Familial Mediterranean Fever 73 1.734
679
RHM028 Rheumatic Heart Disease 56 1.734
680
c HNT011 Huntington Disease-Like 3 34 1.734
681
DBT084 Diabetes Mellitus, Ketosis-Prone 60 1.734
682
URT049 Urate Oxidase, Pseudogene 24 1.734
683
OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 55 1.734
684
c MTR018 Maturity-Onset Diabetes of the Young, Type 1 63 1.729
685
HLC007 Helicobacter Pylori Infection 67 1.720
686
MLD001 Melioidosis 67 1.720
687
P ZLL001 Zellweger Syndrome 65 1.719
688
INT002 Intermittent Claudication 61 1.719
689
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65 1.719
690
KRT009 Keratosis 53 1.719
691
MYT011 Myotonia 39 1.719
693
P HYP069 Hyperparathyroidism 62 1.719
694
ABC001 Abcd Syndrome 45 1.708
695
LSC001 Lesch-Nyhan Syndrome 62 1.703
696
ERL052 Early Repolarization Associated with Ventricular Fibrillation 22 1.703
697
OST017 Osteomyelitis 63 1.703
698
PTH003 Pathologic Nystagmus 52 1.703
699
PST028 Post-Traumatic Stress Disorder 59 1.698
700
c ATS013 Autosomal Recessive Congenital Ichthyosis 66 1.693
701
ANK001 Ankylosis 51 1.693
702
c SCN036 Secondary Progressive Multiple Sclerosis 55 1.692
703
c CHL119 Cholangitis, Primary Sclerosing 58 1.692
704
DYS015 Dysentery 50 1.692
705
SNT005 Sinoatrial Node Disease 47 1.676
706
MTH009 Mouth Disease 57 1.672
707
CHL004 Cholelithiasis 49 1.672
708
MTR002 Mitral Valve Insufficiency 52 1.672
709
P CWD010 Cowden Syndrome 70 1.672
710
HTT002 Hutterite Cerebroosteonephrodysplasia Syndrome 25 1.665
711
HMN047 Human Cytomegalovirus Infection 57 1.665
712
c CHR688 Chronic Acquired Demyelinating Polyneuropathy 16 1.665
713
LFT001 Left Bundle Branch Hemiblock 47 1.665
714
SPN019 Spondylolisthesis 52 1.658
715
EPL050 Epilepsy, Partial, with Pericentral Spikes 26 1.640
716
P EPL140 Epilepsy, Idiopathic Generalized 62 1.640
717
c RTN047 Retinitis Pigmentosa 18 46 1.640
718
PRL045 Proline-Negative Auxotroph of Hamster, Complementation of 16 1.640
719
ACR007 Acromegaly 70 1.640
720
IRN001 Iron Deficiency Anemia 58 1.640
721
P D2H002 D-2-Hydroxyglutaric Aciduria 1 52 1.636
722
P PRG013 Paraganglioma 57 1.636
723
ECT041 Ectodermal Dysplasia-Syndactyly Syndrome 2 36 1.636
724
HMG002 Hemoglobinuria 50 1.636
725
NM001 Noma 38 1.636
726
P ACN011 Acne 57 1.636
727
P HMN010 Hemangioma 62 1.636
728
ORL005 Oral Candidiasis 56 1.636
729
P ART067 Aortic Aneurysm, Familial Thoracic 1 61 1.621
730
TND004 Tendinopathy 45 1.611
731
TND005 Tendinitis 54 1.611
732
CHC001 Chickenpox 57 1.611
733
P RTH006 Rothmund-Thomson Syndrome, Type 2 67 1.607
734
CHL152 Childhood Acute Lymphocytic Leukemia 50 1.607
735
P ATT013 Attention Deficit-Hyperactivity Disorder 64 1.607
736
GST040 Gastric Adenocarcinoma 67 1.607
737
MLG079 Malignant Pleural Mesothelioma 42 1.607
738
HYP080 Hypogonadism 50 1.607
739
P NRV007 Nervous System Disease 67 1.607
740
CNT047 Contact Dermatitis 57 1.588
741
VSC002 Vascular Dementia 60 1.588
742
ALL003 Allergic Rhinitis 67 1.578
743
TND006 Tendinosis 41 1.578
744
P FTL001 Fetal Alcohol Syndrome 55 1.578
745
ODN023 Odontochondrodysplasia 67 1.578
746
TRN018 Transitional Cell Carcinoma 56 1.578
747
HYP026 Hypoglycemic Coma 37 1.578
748
NRT001 Neurotic Disorder 56 1.574
749
c SCL052 Scleroderma, Familial Progressive 61 1.573
750
BNG091 Benign Chronic Pemphigus 57 1.573
751
ATN021 Autoinflammatory Syndrome 32 1.573
752
HYP141 Hyperphenylalaninemia 42 1.573
753
MSC012 Muscular Dystrophy, Duchenne and Becker Type 33 1.573
754
RHB024 Rhabdomyosarcoma 2 67 1.556
755
P SNG014 Singleton-Merten Syndrome 36 1.547
756
c INH030 Inherited Retinal Disorder 28 1.547
757
P FRG001 Fragile X Syndrome 70 1.547
759
c GLY004 Glycogen Storage Disease V 62 1.547
760
c GRV008 Graves Disease 1 54 1.547
761
DBT081 Diabetic Encephalopathy 36 1.547
762
FND002 Fundus Dystrophy 55 1.547
764
DBT007 Diabetic Cataract 36 1.547
765
P BNC003 Bone Cancer 58 1.547
766
KRT019 Keratitis, Hereditary 66 1.542
767
BLD053 Blood Platelet Disease 51 1.542
768
BTN004 Biotin Deficiency 45 1.538
769
c CCK007 Cockayne Syndrome B 56 1.538
770
LMY002 Leiomyoma 51 1.538
771
PRC013 Pericarditis 53 1.538
772
P TCD001 Tic Disorder 49 1.538
773
PLS007 Plasmodium Falciparum Malaria 52 1.538
774
SNG007 Sengers Syndrome 45 1.535
775
DFC009 Defect in V-Atpase 5 1.534
776
ACT088 Acute Insulin Response 39 1.519
777
P CHR012 Chronic Granulomatous Disease 69 1.519
778
MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 61 1.516
779
c MST023 Mesothelioma, Malignant 56 1.516
780
INF034 Infective Endocarditis 54 1.516
781
THR100 Thrombocytopenic Purpura, Autoimmune 61 1.516
782
CRC021 Carcinosarcoma 64 1.516
783
CCC002 Coccidiosis 50 1.516
784
P PYL005 Pyelonephritis 57 1.516
785
PLC008 Placenta Disease 49 1.516
786
P PLY019 Polyneuropathy 52 1.516
787
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 1.514
788
c CNR005 Cone-Rod Dystrophy 3 40 1.502
789
SPN020 Spondylosis 46 1.502
790
c ATM099 Autoimmune Uveitis 45 1.501
791
AND014 Androgenic Alopecia 47 1.501
792
LMY014 Leiomyoma, Uterine 56 1.501
793
ADG002 Audiogenic Seizures 25 1.501
794
MLT177 Multisystem Proteinopathy 31 1.501
795
CRY003 Cryptosporidiosis 56 1.501
796
P LMY004 Leiomyosarcoma 62 1.501
797
DXR001 Doxorubicin Induced Cardiomyopathy 32 1.501
798
P SPR120 Supranuclear Palsy, Progressive, 1 69 1.484
799
c THY109 Thyroid Cancer, Nonmedullary, 1 55 1.484
800
P SYP003 Syphilis 59 1.484
801
P RST002 Restrictive Cardiomyopathy 54 1.484
802
TST014 Testicular Cancer 52 1.484
803
SNL007 Senile Cataract 40 1.484
804
P DDN001 Duodenal Ulcer 53 1.470
805
P FML187 Familial Hypertension 34 1.470
806
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 64 1.463
807
HMP001 Hemopericardium 47 1.463
808
P PRC012 Pericardial Effusion 50 1.463
809
TYP007 Typhoid Fever 64 1.463
810
PNM013 Pneumococcal Meningitis 43 1.451
811
CHR100 Chronic Ulcer of Skin 57 1.451
812
ILT001 Ileitis 48 1.451
813
LPT014 Leptin Deficiency or Dysfunction 78 1.451
814
HMM004 Hamamy Syndrome 39 1.451
815
CRY005 Cryptococcosis 60 1.451
816
GTR002 Goiter 53 1.451
817
MNN009 Meningoencephalitis 48 1.451
818
TCL027 T-Cell Acute Lymphoblastic Leukemia 51 1.451
819
ARR042 Arrhythmogenic Right Ventricular Cardiomyopathy 61 1.446
820
ILS001 Ileus 50 1.446
821
P MGR003 Migraine with Aura 52 1.446
822
P TRC031 Trichorhinophalangeal Syndrome 38 1.446
823
MYL080 Myalgic Encephalomyelitis/chronic Fatigue Syndrome 29 1.446
824
P ALP061 Alopecia, Androgenetic, 1 49 1.424
825
CHK001 Chikungunya 60 1.424
826
IDP091 Idiopathic Nephrotic Syndrome 47 1.424
827
P MST009 Mastocytosis 64 1.424
828
DSS010 Dissociative Disorder 39 1.424
829
P MYS003 Myasthenia Gravis 68 1.420
830
P MYS005 Myositis 56 1.420
831
MNT001 Mantle Cell Lymphoma 67 1.420
832
ACT119 Acute Promyelocytic Leukemia 62 1.420
833
c ANM036 Anemia, Sideroblastic, 1 56 1.417
834
ANR007 Anorexia Nervosa 60 1.417
835
P ANT080 Antigen Defined by Monoclonal Antibody Aj9 18 1.417
836
c GLY060 Glycogen Storage Disease Ia 63 1.417
837
LYM017 Lyme Disease 62 1.417
838
DWR001 Dwarfism 44 1.417
840
ACQ007 Acquired Immunodeficiency Syndrome 59 1.395
841
ACT084 Acute Stress Disorder 54 1.395
842
SRC027 Sarcoma, Synovial 58 1.382
843
c CRD183 Ceroid Lipofuscinosis, Neuronal, 2 56 1.382
844
c CHL134 Cholestasis, Benign Recurrent Intrahepatic, 1 55 1.382
845
P EPD009 Epidermolysis Bullosa Dystrophica 66 1.382
846
P HMR003 Hemorrhagic Disease 59 1.382
847
P EPD016 Epidermolysis Bullosa 53 1.382
848
GLY081 Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency 47 1.382
849
OBN001 Ouabain Resistance 16 1.382
850
CNZ001 Coenzyme Q10 Deficiency Disease 41 1.382
851
KPS004 Kaposi Sarcoma 77 1.382
852
CTR172 Citrullinemia, Classic 65 1.382
853
MCL003 Macular Holes 44 1.382
854
P ESP024 Esophagitis 60 1.382
855
P BRT004 Bartter Disease 58 1.382
856
c RNG012 Ring Chromosome 17 19 1.382
857
LYM019 Lymphosarcoma 46 1.382
858
FST010 Fasting Hypoglycemia 33 1.382
859
c ART152 Aortic Aneurysm, Familial Abdominal, 3 14 1.369
860
SCH012 Schizoaffective Disorder 50 1.369
861
P VSC011 Vasculitis 61 1.369
862
P DNT020 Dent Disease 1 63 1.345
863
P SLM003 Salmonellosis 54 1.345
864
P LNG035 Lung Large Cell Carcinoma 54 1.345
865
PLY012 Polyhydramnios 46 1.345
866
GRD001 Giardiasis 46 1.345
867
AMN001 Amenorrhea 54 1.345
868
DYT002 Dyt1 Early-Onset Isolated Dystonia 13 1.345
869
P MYC033 Myoclonus 47 1.345
870
MYC019 Mycobacterium Marinum 29 1.345
871
MTC008 Mitochondrial Complex Iii Deficiency 35 1.344
872
TBL029 Tubulin, Beta 28 1.342
873
ALB002 Albinism 47 1.342
874
c XRD022 Xeroderma Pigmentosum, Complementation Group D 56 1.339
875
c CHL132 Cholestasis, Progressive Familial Intrahepatic, 1 57 1.339
876
P LTH003 Lethal Congenital Contracture Syndrome 41 1.315
877
P ATR005 Atrophic Gastritis 50 1.315
878
DSS009 Disseminated Intravascular Coagulation 57 1.315
879
GST050 Gastrointestinal System Disease 55 1.315
880
IDP022 Idiopathic Spinal Cord Herniation 17 1.315
881
STN013 Stenotrophomonas Maltophilia Infection 26 1.307
882
PTT048 Pituitary Adenoma, Prolactin-Secreting 64 1.307
883
P CFF008 Coffin-Siris Syndrome 1 64 1.307
884
P PRD006 Prader-Willi Syndrome 61 1.307
885
c MYP138 Myopia 3, Autosomal Dominant 24 1.307
886
CMR002 Coumarin Resistance 59 1.307
888
c DFN155 Deafness, Autosomal Dominant 41 34 1.307
889
FBR054 Fibroma 44 1.307
890
CWP001 Cowpox 45 1.307
891
RSC001 Rosacea 55 1.307
892
ERL030 Early-Onset Generalized Limb-Onset Dystonia 32 1.307
893
P THY032 Thyroiditis 57 1.307
894
BLR002 Bile Reflux 38 1.307
895
P FCL005 Focal Segmental Glomerulosclerosis 57 1.307
896
FCL014 Focal Epilepsy 53 1.307
897
NRL005 Neurilemmoma 60 1.307
898
CNC002 Cinca Syndrome 66 1.293
899
P FML052 Familial Cold Autoinflammatory Syndrome 59 1.293
900
TCK004 Tick Infestation 30 1.293
901
SRS001 Serous Cystadenocarcinoma 52 1.293
902
CRB086 Cerebral Aneurysms 40 1.293
903
ADN084 Adenosine Deaminase, Elevated, Hemolytic Anemia Due to 11 1.292
904
VNT035 Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, with or Without Atrial Dysfunction and/or Dilated Cardiomyopathy 64 1.288
905
P APL001 Aplastic Anemia 73 1.287
906
STR089 Storage Pool Platelet Disease 47 1.287
907
P SRC025 Sarcoidosis 1 71 1.287
909
NPH009 Nephrolithiasis 54 1.287
911
HYP043 Hyperandrogenism 48 1.287
912
CNG506 Congenital Amyoplasia 27 1.267
913
THY128 Thyroid Tumor 35 1.267
914
c CRD065 Cardiomyopathy, Familial Hypertrophic, 2 47 1.267
915
ALV005 Alveolar Soft Part Sarcoma 61 1.267
916
c BRS111 Breast-Ovarian Cancer, Familial 2 53 1.267
917
MVL001 Mevalonic Aciduria 66 1.267
918
c PRD040 Periodontitis, Chronic 52 1.267
919
P CTC001 Catecholaminergic Polymorphic Ventricular Tachycardia 63 1.267
920
LNG039 Lung Squamous Cell Carcinoma 57 1.267
921
PNC001 Pancytopenia 53 1.267
922
THY030 Thyroid Gland Disease 50 1.267
923
c JVN010 Juvenile Rheumatoid Arthritis 66 1.267
924
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 1.261
925
c ALP101 Alpha-Thalassemia 62 1.259
926
P BCK002 Beckwith-Wiedemann Syndrome 62 1.259
927
HRD224 Hereditary Nonpolyposis Colon Cancer 51 1.259
928
CRV002 Cervix Uteri Carcinoma in Situ 47 1.259
929
P RNL007 Renal Tubular Acidosis 50 1.259
930
CRV045 Cervical Intraepithelial Neoplasia 39 1.259
931
GRC001 Gracile Syndrome 47 1.244
932
SKL017 Skeletal Dysplasias 41 1.230
933
GLM044 Glomerular Disease 35 1.230
934
SPS057 Spasticity 42 1.230
935
c SPS128 Spastic Paraplegia 7, Autosomal Recessive 58 1.230
936
RST023 Resting Heart Rate, Variation in 40 1.230
937
c CHL137 Cholestasis, Progressive Familial Intrahepatic, 3 53 1.230
938
P HRM001 Hermansky-Pudlak Syndrome 65 1.230
939
FLR001 Filarial Elephantiasis 59 1.230
940
P SPN046 Spinal Muscular Atrophy 63 1.230
941
P DYS005 Dyslexia 41 1.230
942
MCK005 Mckusick-Kaufman Syndrome 61 1.226
943
NNT033 Neonatal Hypoxic and Ischemic Brain Injury 42 1.226
944
P ALT001 Alternating Hemiplegia of Childhood 57 1.226
945
c PRM093 Premature Ovarian Failure 7 48 1.226
946
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 60 1.226
947
BTT018 Beta-Thalassemia Intermedia 31 1.226
948
P ASP006 Aspergillosis 72 1.226
949
P NJM001 Nijmegen Breakage Syndrome 76 1.226
950
THR113 Thiourea Tasting