Search results for Phenylalanine

2113 hits were found for Phenylalanine

# Family MCID Name MIFTS Score
1
PHN003 Phenylketonuria 76 60.061
2
DSR025 Disorder of Phenylalanine Metabolism 8 20.623
3
DSR073 Disorder of Phenylalanin or Tyrosine Metabolism 3 19.493
4
HYP141 Hyperphenylalaninemia 42 15.099
5
CLS049 Classic Phenylketonuria 34 7.244
6
MLD011 Mild Hyperphenylalaninemia 24 5.809
7
TTR005 Tetrahydrobiopterin Deficiency 49 5.225
8
c INH020 Inherited Metabolic Disorder 47 4.974
9
P TYR004 Tyrosinemia 49 4.470
10
ATS010 Autosomal Recessive Disease 42 3.999
11
HLX001 Helix Syndrome 47 3.957
12
GLM045 Glioma 62 3.797
13
GLL048 Glial Tumor 51 3.797
14
P MCR010 Microcephaly 59 3.707
15
GLB002 Glioblastoma 67 3.601
16
HRT015 Heritable Pulmonary Arterial Hypertension 46 3.577
17
PRT037 Pertussis 49 3.525
18
c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 59 3.488
19
c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 35 3.365
20
MTR016 Maternal Hyperphenylalaninemia 20 3.348
21
CYS001 Cystic Fibrosis 77 3.011
22
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 2.932
23
VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 2.932
24
RPD005 Rapidly Involuting Congenital Hemangioma 48 2.688
25
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 57 2.672
26
P SCH015 Schizophrenia 74 2.607
27
P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 44 2.563
28
c TYR012 Tyrosinemia, Type I 61 2.544
29
HGH043 High Grade Glioma 46 2.527
30
c TYR013 Tyrosinemia, Type Ii 48 2.450
31
P GLM040 Glioma Susceptibility 1 70 2.367
32
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 2.267
33
P RHB003 Rhabdomyosarcoma 66 2.255
34
HYP722 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 23 2.215
35
LVR012 Liver Cirrhosis 62 2.202
36
KRT002 Keratomalacia 54 2.196
37
P ENC018 Encephalopathy 62 2.170
38
HYP060 Hyperinsulinism 53 2.134
39
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 2.110
40
c RNG015 Ring Chromosome 2 22 2.100
41
P PRK039 Parkinsonism 55 2.092
42
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 2.087
43
ALK013 Alkaptonuria 58 2.069
44
AGN016 Aging 53 2.061
45
P DYS154 Dystonia 64 2.050
46
HPT004 Hepatic Coma 43 2.044
47
HPT019 Hepatic Encephalopathy 59 2.040
48
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 62 2.013
49
P MPL001 Maple Syrup Urine Disease 69 2.008
50
DYS192 Dystonia, Dopa-Responsive 56 2.003
51
P PRK057 Parkinson Disease, Late-Onset 79 1.995
52
P NRB001 Neuroblastoma 66 1.957
53
c DNT047 Dentinogenesis Imperfecta Type 2 35 1.903
54
BCT022 Bacterial Infectious Disease 55 1.902
55
SPN035 Spindle Cell Sarcoma 51 1.896
56
SRC014 Sarcoma 64 1.896
57
CNG034 Congestive Heart Failure 69 1.851
58
c HYP595 Hypertension, Essential 84 1.849
59
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 1.846
60
ALL029 Allergic Disease 61 1.839
61
47X002 47,xyy 47 1.834
62
c LKM061 Leukemia, Acute Myeloid 83 1.798
63
TRD006 Tardive Dyskinesia 53 1.776
64
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 58 1.763
65
P LKM062 Leukemia, Acute Lymphoblastic 69 1.757
66
P SCK005 Sickle Cell Disease 56 1.737
67
CHL014 Cholera 62 1.736
68
P PHC003 Pheochromocytoma 70 1.722
69
ADR040 Adrenal Gland Pheochromocytoma 45 1.722
70
P HYP086 Hypothyroidism 68 1.719
71
PNG002 Pain Agnosia 51 1.704
72
OST159 Osteogenic Sarcoma 66 1.674
73
48X005 48,xyyy 39 1.663
74
HRW001 Hair Whorl 35 1.663
75
HND015 Hand Skill, Relative 29 1.651
76
c RNG008 Ring Chromosome 13 31 1.637
77
P NTR004 Neutropenia 62 1.634
78
MLR004 Malaria 77 1.603
79
CNT033 Central Nervous System Cancer 47 1.594
80
P NRV006 Nervous System Cancer 47 1.594
81
c PLM164 Pulmonary Hypertension, Primary, 1 75 1.586
82
P PNC035 Pancreatic Cancer 87 1.563
83
ANT024 Anthrax Disease 57 1.550
84
DPH001 Diphtheria 59 1.536
85
END040 Endogenous Depression 54 1.525
86
URM002 Uremia 47 1.514
87
SVR004 Severe Combined Immunodeficiency 70 1.497
88
P LTR001 Lateral Sclerosis 57 1.489
89
DFC004 Deficiency Anemia 74 1.476
90
P LVR013 Liver Disease 68 1.473
91
DPR016 Depression 64 1.468
92
ACT098 Acute Erythroid Leukemia 55 1.466
93
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 1.423
94
ADL002 Adult Syndrome 69 1.423
95
P PLY018 Polycythemia 56 1.421
96
OST012 Osteoarthritis 77 1.413
97
MNT002 Mental Depression 56 1.413
98
P HYP098 Hypereosinophilic Syndrome 66 1.404
99
c TYP009 Type 2 Diabetes Mellitus 91 1.397
100
P LNG064 Lung Cancer Susceptibility 3 69 1.397
101
P MLN008 Melanoma 75 1.386
102
P INF037 Inflammatory Bowel Disease 53 1.384
103
KWS001 Kwashiorkor 44 1.383
104
PLY001 Polycythemia Vera 69 1.377
105
c LKM063 Leukemia, Chronic Myeloid 70 1.370
106
c AMY091 Amyotrophic Lateral Sclerosis 1 87 1.363
107
P MYL006 Myeloid Leukemia 60 1.361
108
P SZR006 Seizure Disorder 69 1.354
110
P MLT020 Multiple Sclerosis 79 1.336
111
HMN044 Human Immunodeficiency Virus Type 1 76 1.335
112
BNR002 Bone Resorption Disease 47 1.332
113
CYT002 Cytokine Deficiency 43 1.322
114
c HPT001 Hepatitis C 61 1.314
115
P ATT013 Attention Deficit-Hyperactivity Disorder 65 1.313
116
P ADL010 Adult Respiratory Distress Syndrome 70 1.313
117
HYP056 Hypoglycemia 65 1.313
118
P HMC002 Homocystinuria 52 1.307
119
END086 End Stage Renal Disease 54 1.307
120
DSS032 Disease by Infectious Agent 55 1.302
121
MNN043 Meningioma, Familial 79 1.290
122
LYM002 Lymphoplasmacyte-Rich Meningioma 35 1.290
123
SCR001 Secretory Meningioma 40 1.290
124
INT395 Intracranial Meningioma 47 1.290
125
INS024 Insulin-Like Growth Factor I 77 1.280
126
P CHR012 Chronic Granulomatous Disease 69 1.280
127
MYL009 Myelodysplastic Syndrome 67 1.274
128
TXC005 Toxic Shock Syndrome 61 1.265
129
P DBT009 Diabetes Mellitus 67 1.250
130
c CNG006 Congenital Hypothyroidism 63 1.243
131
DRM006 Dermatitis 61 1.235
132
MYL069 Myeloma, Multiple 76 1.234
133
P HPT021 Hepatitis 68 1.234
134
PRT036 Peritonitis 65 1.234
135
P PRD008 Periodontitis 63 1.230
136
RHB024 Rhabdomyosarcoma 2 65 1.230
137
TRG019 Trigonocephaly with Short Stature and Developmental Delay 38 1.230
138
CRB009 Cerebritis 43 1.230
139
HYP066 Hyperglycemia 60 1.224
140
P CLL015 Collagen Disease 47 1.217
141
IRN002 Iron Metabolism Disease 56 1.212
142
P MLT074 Multiple Endocrine Neoplasia 58 1.208
143
P BPL003 Bipolar Disorder 56 1.203
144
P TRM003 Tremor 50 1.201
145
c TYP008 Type 1 Diabetes Mellitus 77 1.199
146
P LYM118 Lymphoma 66 1.197
147
CRC006 Carcinoid Syndrome 55 1.196
148
c MJR022 Major Affective Disorder 8 37 1.195
149
c MJR024 Major Affective Disorder 9 40 1.195
150
LPD008 Lipid Metabolism Disorder 61 1.195
151
P CNJ013 Conjunctivitis 66 1.190
152
c HPT073 Hepatitis C Virus 70 1.186
153
VRC005 Varicose Veins 59 1.185
154
ARG004 Argyria 26 1.185
155
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 1.182
156
LNG099 Lung Disease 62 1.181
157
CRH001 Crohn's Disease 80 1.181
158
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 79 1.176
159
NRN004 Neuroendocrine Tumor 55 1.175
160
P TRN020 Turner Syndrome 67 1.174
161
ADG002 Audiogenic Seizures 25 1.172
162
P LNG032 Lung Cancer 98 1.171
163
P AMY004 Amyloidosis 69 1.171
164
c VRL010 Viral Hepatitis 52 1.159
165
PPL052 Papillomatosis, Confluent and Reticulated 34 1.150
166
c ACT073 Acute Leukemia 59 1.149
167
CRC021 Carcinosarcoma 62 1.149
168
LYM143 Lymphoma, Non-Hodgkin, Familial 74 1.145
169
NNL005 Non-Alcoholic Fatty Liver Disease 63 1.143
170
P OVR042 Ovarian Cancer 88 1.141
171
P RTN024 Retinoblastoma 72 1.141
172
MLG169 Malignant Astrocytoma 57 1.141
173
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 65 1.130
174
P CLR023 Colorectal Cancer 100 1.130
175
PRT038 Protein-Energy Malnutrition 53 1.130
176
HMT002 Hematologic Cancer 61 1.124
177
LRN003 Learning Disability 49 1.122
178
P OBS001 Obstructive Jaundice 49 1.119
179
P MYC033 Myoclonus 46 1.107
180
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 1.100
181
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 64 1.098
182
LYM040 Lymphoblastic Lymphoma 53 1.098
183
HMG002 Hemoglobinuria 50 1.098
184
P VSC011 Vasculitis 61 1.094
185
SKN019 Skin Melanoma 70 1.094
186
c MCR133 Microvascular Complications of Diabetes 4 41 1.085
187
c MCR113 Microvascular Complications of Diabetes 3 52 1.085
188
c MCR130 Microvascular Complications of Diabetes 6 41 1.085
189
c MCR120 Microvascular Complications of Diabetes 7 47 1.085
190
c HPT016 Hepatitis B 62 1.085
191
PRT013 Portal Hypertension 59 1.081
192
P THR014 Thrombocytopenia 66 1.081
193
PNC129 Pancreatic Adenocarcinoma 64 1.072
194
P MJR001 Major Depressive Disorder 68 1.070
195
VCC001 Vaccinia 49 1.070
196
ISC004 Ischemia 61 1.070
197
ANX004 Anoxia 40 1.070
198
LYM019 Lymphosarcoma 46 1.065
199
P GLC113 Galactosemia I 65 1.061
200
P INF038 Influenza 68 1.061
201
ULC004 Ulcerative Colitis 74 1.045
202
P WSK001 Wiskott-Aldrich Syndrome 72 1.037
203
P PLM037 Pulmonary Hypertension 69 1.036
204
c NRP064 Neuropathy, Congenital Hypomyelinating, 2 35 1.030
205
AMN012 Aminoacidopathies 19 1.027
206
P HYP265 Hypotonia 42 1.023
207
TTN003 Tetanus 64 1.020
208
P NRV007 Nervous System Disease 65 1.020
209
P MSC005 Muscular Dystrophy 66 1.018
210
HYP266 Hypoxia 56 1.018
211
CHD004 Chudley-Mccullough Syndrome 47 1.015
212
P ATS364 Autism 72 1.009
213
P GRF003 Graft-Versus-Host Disease 71 1.001
214
MDD011 Mood Disorder 61 0.989
215
JVN004 Juvenile Myelomonocytic Leukemia 66 0.985
216
MXD026 Mixed Glioma 45 0.985
217
c CHR064 Chronic Monocytic Leukemia 35 0.985
218
c PRM038 Primary Agammaglobulinemia 47 0.985
219
VNH007 Von Hippel-Lindau Syndrome 72 0.979
220
YLL002 Yellow Fever 61 0.979
221
LKN025 Leukoencephalopathy, Hereditary Diffuse, with Spheroids 66 0.977
222
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69 0.977
223
ACT011 Acute Contagious Conjunctivitis 41 0.977
224
ANT039 Antisynthetase Syndrome 55 0.977
225
ADL054 Adult Brain Stem Glioma 30 0.977
226
ADL023 Adult Medulloblastoma 43 0.977
227
ADL008 Adult Oligodendroglioma 35 0.977
228
P CRD246 Cardiovascular System Disease 55 0.977
229
ADL025 Adult Pineoblastoma 20 0.977
230
END072 Endotheliitis 36 0.977
231
P MSC003 Muscular Atrophy 52 0.958
232
HST006 Histidinemia 48 0.957
233
P LCT001 Lactic Acidosis 50 0.957
234
P DRR001 Diarrhea 55 0.954
235
OCH001 Ochronosis 40 0.954
236
RTC005 Reticulosarcoma 47 0.954
237
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 0.953
238
c ACT068 Acute Cystitis 60 0.946
239
IRN001 Iron Deficiency Anemia 58 0.934
240
MST004 Mast Cell Neoplasm 41 0.922
241
GST045 Gastroenteritis 58 0.922
242
PST011 Pustulosis of Palm and Sole 52 0.922
243
EXT007 Extracutaneous Mastocytoma 38 0.922
244
ACQ007 Acquired Immunodeficiency Syndrome 58 0.922
245
P PSR002 Psoriasis 63 0.922
246
PST092 Posttransplant Acute Limbic Encephalitis 29 0.922
247
PRL017 Prolymphocytic Leukemia 47 0.920
248
HST010 Histiocytosis 49 0.920
249
P LKM002 Leukemia 65 0.917
250
P NRF002 Neurofibromatosis 60 0.909
251
END057 Endometrial Cancer 76 0.895
252
BRN024 Bronchitis 67 0.895
253
HWK001 Hawkinsinuria 42 0.887
254
c PRD040 Periodontitis, Chronic 52 0.880
255
P CHR345 Chronic Pain 50 0.880
256
CLT003 Colitis 63 0.874
257
P HRP006 Herpes Simplex 65 0.874
258
PLM116 Pulmonary Artery Hypoplasia 21 0.873
259
P DRM053 Dermatitis, Atopic 65 0.866
260
P EXN002 Exanthem 58 0.866
261
DSS008 Disease of Mental Health 74 0.866
262
P VNT002 Ventricular Septal Defect 58 0.865
263
HYP016 Hypochondriasis 47 0.865
264
MSL001 Measles 61 0.865
265
MLY011 Maleylacetoacetate Isomerase Deficiency 19 0.854
266
IMM167 Immune Deficiency Disease 76 0.850
267
P HPT023 Hepatocellular Carcinoma 95 0.849
268
c CHR684 Chronic Kidney Disease 73 0.849
269
TYR015 Tyrosinosis 20 0.847
270
TTT001 Tatton-Brown-Rahman Syndrome 44 0.847
271
P CYS018 Cystitis 58 0.847
272
RCK004 Rickets 64 0.840
273
AMN006 Aminoaciduria 37 0.840
274
STM007 Stomatitis 52 0.840
275
P ALP008 Alopecia 53 0.840
276
HYP781 Hypoascorbemia 52 0.840
277
SPS057 Spasticity 43 0.832
278
ESP002 Esophageal Varix 51 0.828
279
P HMP007 Hemophilia 52 0.828
280
P MYC084 Mycobacterium Tuberculosis 1 68 0.822
281
P MVM001 Movement Disease 61 0.822
282
HMP009 Haemophilus Influenzae 41 0.822
283
P BDY004 Body Mass Index Quantitative Trait Locus 11 82 0.815
284
P BLD134 Bladder Cancer 79 0.813
285
P SLM003 Salmonellosis 54 0.813
286
c BDY005 Body Mass Index Quantitative Trait Locus 9 47 0.808
287
c BDY006 Body Mass Index Quantitative Trait Locus 8 43 0.808
288
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.808
289
c BDY020 Body Mass Index Quantitative Trait Locus 19 51 0.808
290
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.808
291
c BDY012 Body Mass Index Quantitative Trait Locus 7 43 0.808
292
c BDY019 Body Mass Index Quantitative Trait Locus 18 46 0.808
293
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.808
294
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.808
295
P BRN019 Bernard-Soulier Syndrome 61 0.807
296
c MGR028 Migraine with or Without Aura 1 63 0.803
297
KRT008 Keratopathy 46 0.803
298
SQM006 Squamous Cell Carcinoma 59 0.803
299
P PLY011 Polycystic Ovary Syndrome 57 0.803
300
P MYP004 Myopathy 67 0.803
301
SKN016 Skin Disease 63 0.803
302
THY029 Thyroid Carcinoma 55 0.801
303
ALC007 Alcohol Dependence 65 0.794
304
SPT005 Spotted Fever 49 0.783
305
P BCL017 B-Cell Lymphoma 57 0.783
306
SPL018 Splenomegaly 47 0.783
307
BRN032 Brain Glioma 45 0.781
308
ILT001 Ileitis 49 0.781
309
c ATS007 Autism Spectrum Disorder 71 0.773
310
c MLT160 Multiple Endocrine Neoplasia, Type Iia 67 0.773
311
ANX010 Anxiety 70 0.773
312
c PCH010 Pachyonychia Congenita 3 43 0.773
313
P URN019 Urinary Tract Infection 48 0.773
314
SCR011 Scrapie 39 0.773
315
P NRP001 Neuropathy 59 0.773
316
TRM010 Traumatic Brain Injury 50 0.773
317
PLM129 Pulmonary Disease, Chronic Obstructive 74 0.770
318
LSC001 Lesch-Nyhan Syndrome 62 0.762
319
P HYP802 Hypocalcemia, Autosomal Dominant 1 68 0.762
320
WST001 West Syndrome 64 0.762
321
c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 32 0.762
322
c MCR115 Microvascular Complications of Diabetes 5 65 0.762
323
TLR001 Tularemia 56 0.762
324
RCK002 Rocky Mountain Spotted Fever 34 0.762
325
BRN071 Brain Injury 50 0.762
326
MYL005 Myelofibrosis 70 0.753
327
P CLC063 Celiac Disease 1 65 0.751
328
ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 55 0.751
329
P DNG005 Dengue Virus 55 0.751
330
CLN015 Colon Adenocarcinoma 64 0.751
331
FDL002 Food Allergy 47 0.751
332
ACR005 Acrodermatitis 38 0.751
333
P BRS044 Breast Adenocarcinoma 58 0.751
334
P HML002 Hemolytic Anemia 62 0.751
335
c VRL007 Viral Encephalitis 50 0.751
336
P LPS004 Lupus Erythematosus 61 0.751
337
P THL005 Thalassemia 56 0.751
338
ORL011 Oral Cancer 60 0.751
339
ENT007 Enteropathica 25 0.751
340
c HMP004 Hemophilia B 68 0.748
341
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 0.739
342
P OST002 Osteoporosis 76 0.739
343
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 0.739
344
BRK010 Burkitt Lymphoma 65 0.739
345
WTH001 Withdrawal Disorder 47 0.726
346
LPD012 Lipoid Congenital Adrenal Hyperplasia 68 0.726
347
c HYP752 Hypocalciuric Hypercalcemia, Familial, Type I 49 0.726
348
P FML068 Familial Hypocalciuric Hypercalcemia 55 0.726
349
P PRP019 Peripheral Nervous System Disease 57 0.726
350
BLR001 Biliary Atresia 55 0.726
351
CRB004 Cerebral Artery Occlusion 45 0.726
352
CRB039 Cerebrovascular Disease 65 0.726
353
P NSP012 Nasopharyngeal Carcinoma 60 0.713
354
CRV035 Cervical Cancer 72 0.713
355
LYM027 Lymphopenia 56 0.713
356
PRM236 Primary Biliary Cholangitis 62 0.713
357
ALL006 Allergic Asthma 55 0.713
358
ALL014 Allergic Encephalomyelitis 34 0.713
359
P DBT005 Diabetes Insipidus 54 0.713
360
ATN005 Autonomic Dysfunction 45 0.713
361
c DWL002 Dowling-Degos Disease 1 58 0.699
362
MSC157 Muscular Dystrophy, Duchenne Type 78 0.699
363
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 0.699
364
LGN006 Legionnaire Disease 52 0.699
365
P HNT016 Huntington Disease 73 0.699
366
P CNG001 Congenital Myasthenic Syndrome 68 0.699
367
PPT005 Peptic Ulcer Disease 58 0.699
368
ALB002 Albinism 46 0.699
369
SPS019 Spastic Paraparesis 38 0.699
370
MYL031 Myeloproliferative Neoplasm 66 0.699
371
SVR001 Severe Acute Respiratory Syndrome 68 0.699
372
NTR005 Nutritional Deficiency Disease 60 0.690
373
GLC003 Glucose Intolerance 53 0.689
374
HYP003 Hypermethioninemia 51 0.685
375
P MCP040 Mucopolysaccharidosis-Plus Syndrome 70 0.685
376
WST005 West Nile Virus 55 0.685
377
P TBR001 Tuberous Sclerosis 69 0.685
378
AMN001 Amenorrhea 53 0.685
379
P EPL164 Epilepsy 70 0.685
380
P RTN016 Retinal Degeneration 52 0.685
381
P MTC069 Mitochondrial Disorders 57 0.685
382
P PRC019 Precocious Puberty 48 0.685
383
ATM095 Autoimmune Disease 61 0.679
384
THY111 Thyroid Carcinoma, Familial Medullary 67 0.679
385
THY125 Thyroid Gland Medullary Carcinoma 48 0.679
386
PLY150 Polykaryocytosis Inducer 29 0.669
387
P CTR177 Citrullinemia, Type Ii, Adult-Onset 56 0.669
388
P SPP010 Suppressor of Tumorigenicity 3 50 0.669
389
P MYC007 Myocardial Infarction 69 0.669
390
TYP007 Typhoid Fever 63 0.669
391
SNS003 Sensory Peripheral Neuropathy 51 0.669
392
TRT001 Teratocarcinoma 41 0.669
393
P SKN015 Skin Carcinoma 71 0.669
394
P RTN018 Retinal Disease 53 0.669
395
CLF001 Cleft Lip 54 0.669
396
c RNG019 Ring Chromosome 3 19 0.669
397
c CNT075 Central Precocious Puberty 53 0.669
398
FRS020 Fars2 Deficiency 9 0.669
399
SPN186 Spinal Cord Injury 60 0.669
400
c ACT027 Acute Pancreatitis 60 0.669
401
P PRS040 Prostate Cancer 95 0.658
402
SCK003 Sickle Cell Anemia 74 0.658
403
PLS011 Plasmacytoma 56 0.658
404
OTT002 Otitis Media 70 0.652
405
PRP027 Peripheral Vascular Disease 71 0.652
406
HYP110 Hyperproinsulinemia 37 0.652
407
P TYS001 Tay-Sachs Disease 69 0.652
408
CLF027 Cleft Palate, Isolated 64 0.652
409
LNT004 Lentigines 45 0.652
410
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 62 0.652
411
HMN047 Human Cytomegalovirus Infection 59 0.652
412
NRL005 Neurilemmoma 60 0.652
413
CNT047 Contact Dermatitis 56 0.652
414
PLM001 Pulmonary Tuberculosis 69 0.652
415
CRY036 Cryptogenic Cirrhosis 36 0.652
416
P INF032 Infertility 60 0.646
417
P HRT032 Heart Disease 84 0.634
418
P PLY019 Polyneuropathy 52 0.634
419
GLC036 Glucagonoma 45 0.634
420
c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 33 0.633
421
CNT061 Conotruncal Heart Malformations 66 0.633
422
P CRG003 Crigler-Najjar Syndrome, Type I 64 0.633
423
ALP103 Alpha-1-Antitrypsin Deficiency 67 0.633
424
LWG006 Low Grade Glioma 41 0.633
425
P LPS002 Liposarcoma 64 0.633
426
CRV040 Cervix Carcinoma 50 0.633
427
MST005 Mastitis 52 0.633
428
P SLP005 Sleep Disorder 61 0.633
429
P EPS003 Episodic Ataxia 59 0.633
430
DSR074 Disorder of Purine Metabolism 24 0.633
431
P BRS047 Breast Cancer 97 0.622
432
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 51 0.611
433
P CRD119 Cardiac Arrest 68 0.611
434
DGR001 Digeorge Syndrome 62 0.611
435
RTC009 Reticulum Cell Sarcoma 43 0.611
436
MTB008 Metabolic Crises, Recurrent, with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration 42 0.611
437
P STR092 Striatal Degeneration, Autosomal Dominant 2 44 0.611
438
ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 44 0.611
439
SQM013 Squamous Cell Carcinoma, Head and Neck 75 0.611
440
c GLL024 Gallbladder Disease 1 53 0.611
441
CMB044 Combined Oxidative Phosphorylation Deficiency 14 31 0.611
442
c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 50 0.611
443
c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 52 0.611
444
c NRF023 Neurofibromatosis, Type Ii 70 0.611
445
P ICH004 Ichthyosis 56 0.611
446
HRT011 Heart Septal Defect 49 0.611
447
LPT001 Leptospirosis 65 0.611
448
P INT143 Interstitial Cystitis 59 0.611
449
CLR017 Clear Cell Sarcoma 44 0.611
450
ALL010 Allergic Contact Dermatitis 55 0.611
451
P LKD001 Leukodystrophy 58 0.611
452
P VNW001 Von Willebrand's Disease 64 0.611
453
PRN009 Paranoid Schizophrenia 49 0.611
454
SCB001 Scabies 49 0.611
455
MTC005 Mitochondrial Metabolism Disease 44 0.611
456
P MTC133 Mitochondrial Myopathy 51 0.611
457
MCR004 Macroglobulinemia 48 0.611
458
P PLM034 Pulmonary Emphysema 58 0.611
459
PYR009 Pyridoxine Deficiency Anemia 35 0.611
460
P CHL066 Cholangitis 51 0.611
461
PLY100 Polyploidy 36 0.611
462
AGG012 Aggressive Nk-Cell Leukemia 47 0.609
463
P MYS003 Myasthenia Gravis 67 0.609
464
P LKM071 Leukemia, Chronic Lymphocytic 74 0.609
465
P ADN016 Adenocarcinoma 63 0.609
466
RNL114 Renal Cell Carcinoma, Nonpapillary 79 0.599
467
DWN001 Down Syndrome 70 0.595
468
P PNC044 Pancreatitis 61 0.595
469
P ENC004 Encephalitis 61 0.595
470
P CND005 Cone Dystrophy 47 0.586
471
OPP004 Oppositional Defiant Disorder 48 0.586
472
SCR037 Sucrase-Isomaltase Deficiency, Congenital 48 0.586
473
BRN132 Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 23 0.586
474
c EPS042 Episodic Ataxia, Type 1 58 0.586
475
P ANT080 Antigen Defined by Monoclonal Antibody Aj9 18 0.586
476
DRR014 Darier-White Disease 58 0.586
477
c CHL119 Cholangitis, Primary Sclerosing 57 0.586
478
c PNC106 Pancreatic Agenesis 1 51 0.586
479
P BRN076 Bronchiectasis with or Without Elevated Sweat Chloride 1 34 0.586
480
P ANG001 Angelman Syndrome 64 0.586
481
P TCD001 Tic Disorder 50 0.586
482
P BRB001 Beriberi 44 0.586
483
SMN007 Seminoma 42 0.586
484
P SCL009 Sclerosing Cholangitis 46 0.586
485
ISL001 Islet Cell Tumor 55 0.586
486
BRN002 Bronchiolitis 57 0.586
487
PNC034 Pancreas Disease 49 0.586
488
GLS001 Gliosarcoma 63 0.586
489
CRN017 Coronary Thrombosis 46 0.586
490
ANC002 Anca-Associated Vasculitis 44 0.586
491
BCK006 Back Pain 43 0.586
492
DRG003 Drug Dependence 46 0.586
493
TXC020 Toxic Oil Syndrome 33 0.586
494
P APL001 Aplastic Anemia 72 0.580
495
MTB004 Metabolic Acidosis 48 0.574
496
CMB007 Combined Immunodeficiency 56 0.565
497
EMB004 Embryonal Carcinoma 55 0.565
498
P FNC004 Fanconi Syndrome 60 0.565
499
SFT003 Soft Tissue Sarcoma 43 0.565
500
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 59 0.553
501
P CTN015 Cutaneous T Cell Lymphoma 48 0.553
502
OBS002 Obsessive-Compulsive Disorder 67 0.553
503
c GLM043 Glioma Susceptibility 9 30 0.553
504
c ERY064 Erythrocytosis, Familial, 6 30 0.553
505
c VNW010 Von Willebrand Disease, Type 2 50 0.553
506
P HMN036 Hemangiopericytoma, Malignant 56 0.553
507
MYL057 Myelopathy, Htlv-1-Associated 39 0.553
508
IMM155 Immune Response to Synthetic Polypeptide--Irphegal 5 0.553
509
P PLZ001 Pelizaeus-Merzbacher Disease 65 0.553
510
P OCL001 Ocular Albinism 47 0.553
511
P MYG005 Myoglobinuria 40 0.553
512
RSP023 Rasopathy 54 0.553
513
MYM001 Myoma 54 0.553
514
FBR002 Fibrosarcoma of Bone 47 0.553
515
TRP002 Tropical Spastic Paraparesis 48 0.553
516
CRT013 Carotid Stenosis 51 0.553
517
CND002 Conduct Disorder 50 0.553
518
CHL004 Cholelithiasis 48 0.553
519
MDS019 Mediastinal Malignant Lymphoma 30 0.553
520
RNL034 Renal Cell Carcinoma 4 16 0.553
521
c BCT013 Bacterial Pneumonia 47 0.553
522
MYC005 Myocardial Stunning 45 0.553
523
HTL001 Htlv-1 Associated Myelopathy/tropical Spastic Paraparesis 37 0.553
524
CCN001 Cocaine Dependence 47 0.553
525
P KNB001 Knobloch Syndrome 37 0.553
526
CNG393 Congenital Muscular Dystrophy with Hyperlaxity 12 0.553
527
CRH005 Crohn's Colitis 53 0.548
528
P MDL005 Medulloblastoma 75 0.548
529
c FNC027 Fanconi Anemia, Complementation Group a 80 0.548
530
P CHR285 Chronic Myelomonocytic Leukemia 59 0.548
531
ADN018 Adenoma 58 0.548
532
INS001 Insulinoma 59 0.548
533
PLS007 Plasmodium Falciparum Malaria 52 0.548
534
P SRC025 Sarcoidosis 1 70 0.529
535
SPP011 Suppression of Tumorigenicity 12 61 0.529
536
P ANP001 Anaplastic Large Cell Lymphoma 59 0.529
537
DFF005 Diffuse Large B-Cell Lymphoma 55 0.529
538
P LYM033 Lymphoproliferative Syndrome 59 0.529
539
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 0.515
540
LYM133 Lymphoma, Hodgkin, Classic 69 0.507
541
P PRS038 Personality Disorder 65 0.507
542
P MNN013 Meningitis 65 0.507
544
c MLT156 Multiple Endocrine Neoplasia, Type I 71 0.482
545
CRC014 Carcinoid Tumors, Intestinal 46 0.482
546
P HYP097 Hyperekplexia 62 0.482
547
HYP458 Hyper Ige Syndrome 60 0.482
548
MNN032 Meningococcal Meningitis 52 0.482
549
GST071 Gastrointestinal Carcinoma 46 0.482
550
HMN014 Human Immunodeficiency Virus Infectious Disease 54 0.482
551
P ESP024 Esophagitis 60 0.482
552
c HPT003 Hepatitis a 63 0.482
553
VRL011 Viral Infectious Disease 60 0.482
554
P THY032 Thyroiditis 56 0.482
555
NRM001 Neuromyelitis Optica 60 0.482
556
AND005 Androgen Insensitivity Syndrome, Mild 21 0.482
557
c GLC079 Glaucoma 1, Open Angle, P 23 0.472
558
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 40 0.472
559
c HYP794 Hyperoxaluria, Primary, Type I 63 0.472
560
TQP001 Taqi Polymorphism 29 0.472
561
P PRM002 Primary Hyperoxaluria 65 0.472
562
CHR073 Choreatic Disease 53 0.472
563
c PRC016 Pre-Eclampsia 64 0.455
564
P EST001 Estrogen-Receptor Positive Breast Cancer 49 0.448
565
TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 50 0.448
566
c LKM056 Leukemia, Chronic Lymphocytic 2 47 0.448
567
P MLN069 Melanoma, Uveal 59 0.448
568
ATY042 Atypical Chronic Myeloid Leukemia 50 0.448
569
P OLG002 Oligodendroglioma 66 0.448
570
MNC019 Monocarboxylate Transporter 1 Deficiency 46 0.448
571
P BNG030 Benign Ependymoma 51 0.448
572
BNM001 Bone Marrow Cancer 45 0.448
573
NRT001 Neurotic Disorder 56 0.448
574
CLL010 Cellular Ependymoma 58 0.448
575
P DMN001 Diamond-Blackfan Anemia 73 0.448
576
TST014 Testicular Cancer 51 0.448
577
CNN003 Conn's Syndrome 77 0.448
578
c PRM012 Primary Polycythemia 58 0.448
579
PRS047 Prostatitis 57 0.448
580
BRN028 Brain Cancer 73 0.448
581
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 56 0.448
582
OPS006 Opsoclonus-Myoclonus Syndrome 48 0.448
583
HML018 Homologous Wasting Disease 21 0.448
584
c ALM001 Al Amyloidosis 54 0.448
585
RFR010 Refractory Anemia 49 0.448
586
SRT004 Serotonin Syndrome 54 0.448
587
P ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 39 0.448
588
OCL069 Ocular Motor Apraxia 57 0.440
589
CHL123 Chlamydia 58 0.440
590
P ALZ034 Alzheimer Disease 87 0.433
591
P FBR017 Fibrosarcoma 55 0.433
592
P CTR002 Cataract 59 0.433
593
P KDN018 Kidney Disease 71 0.418
594
P PLY014 Polycystic Kidney Disease 71 0.413
595
c ACT071 Acute Kidney Failure 60 0.394
596
KRT009 Keratosis 52 0.394
597
P ART022 Arthritis 70 0.394
598
P RHM011 Rheumatoid Arthritis 81 0.385
599
FTT001 Fatty Liver Disease 61 0.377
600
CHL068 Cholestasis 61 0.368
601
EST002 Estrogen-Receptor Negative Breast Cancer 45 0.368
602
LNG108 Langerhans Cell Histiocytosis 57 0.368
603
OST062 Osteoarthritis with Mild Chondrodysplasia 46 0.368
604
MNN042 Meningioma, Radiation-Induced 51 0.368
605
ZLL002 Zollinger-Ellison Syndrome 55 0.368
606
c WLM013 Wilms Tumor 1 65 0.368
607
P BRL012 Bare Lymphocyte Syndrome, Type Ii 65 0.368
608
P DYS193 Dystonia 11, Myoclonic 55 0.368
609
PPL049 Papillon-Lefevre Syndrome 65 0.368
610
P NJM001 Nijmegen Breakage Syndrome 75 0.368
611
CMB081 Combined Immunodeficiency, X-Linked 39 0.368
612
c PNS012 Paine Syndrome 60 0.368
613
P ANR048 Aniridia 1 66 0.368
614
c INF071 Inflammatory Bowel Disease 1 65 0.368
615
ACR041 Acromelic Frontonasal Dysostosis 53 0.368
616
c PRS130 Prostate Cancer, Hereditary, 8 32 0.368
617
ATM052 Autoimmune Disease 1 36 0.368
618
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 44 0.368
619
EWN003 Ewing Sarcoma 69 0.368
620
RTN193 Retinitis Pigmentosa and Erythrocytic Microcytosis 52 0.368
621
c BDY021 Body Mass Index Quantitative Trait Locus 20 49 0.368
622
LMB002 Lambert-Eaton Myasthenic Syndrome 51 0.368
623
c HYP699 Hyperekplexia 1 44 0.368
624
CHY002 Chylomicron Retention Disease 64 0.368
625
LTT002 Letterer-Siwe Disease 33 0.368
626
STF001 Stiff-Person Syndrome 57 0.368
627
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 55 0.368
628
c INF145 Infantile Liver Failure Syndrome 1 44 0.368
629
c EPS039 Episodic Pain Syndrome, Familial, 1 42 0.368
630
c DMN023 Diamond-Blackfan Anemia 1 68 0.368
631
IMM162 Immunoglobulin E Concentration, Serum 28 0.368
632
c SPN330 Spondylocostal Dysostosis 5 55 0.368
633
P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 53 0.368
634
c PRS136 Prostate Cancer, Hereditary, 6 33 0.368
635
GLS018 Glass Syndrome 60 0.368
636
SYS070 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma of Childhood 35 0.368
637
SPR126 Superior Semicircular Canal Dehiscence 41 0.368
638
ECT093 Ectopic Cushing Syndrome 45 0.368
639
BRW002 Brown's Tendon Sheath Syndrome 28 0.368
640
P PNB001 Pineoblastoma 49 0.368
641
CNN004 Connective Tissue Cancer 37 0.368
642
P END084 Endocrine System Disease 44 0.368
643
VGN023 Vaginitis 56 0.368
644
THY122 Thyroid Gland Cancer 59 0.368
645
FLL027 Fallopian Tube Carcinoma 66 0.368
646
END035 Endocrine Gland Cancer 42 0.368
647
c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 43 0.368
648
CHR286 Chronic Neutrophilic Leukemia 42 0.368
649
MYL075 Myelodysplastic/myeloproliferative Neoplasm 51 0.368
650
HGH044 High Grade Ependymoma 40 0.368
651
PNL014 Pineal Gland Cancer 40 0.368
652
SMT003 Somatostatinoma 52 0.368
653
EPT010 Epithelial-Myoepithelial Carcinoma 55 0.368
654
CNT046 Central Nervous System Vasculitis 45 0.368
655
PRL010 Prolactin Producing Pituitary Tumor 33 0.368
656
P MLG074 Malignant Mesenchymoma 40 0.368
657
P PLY020 Polyradiculoneuropathy 47 0.368
658
MSN004 Mesenchymal Cell Neoplasm 42 0.368
659
c INF023 Inflammatory Breast Carcinoma 48 0.368
660
ANP006 Anaplastic Ependymoma 46 0.368
661
c PST022 Posterior Uveal Melanoma 41 0.368
662
PTT009 Pituitary Gland Disease 52 0.368
663
GST030 Gastrinoma 45 0.368
664
P PRP021 Peripheral Nervous System Neoplasm 39 0.368
665
GRN006 Granulomatous Angiitis 34 0.368
666
GRM005 Germ Cell Cancer 46 0.368
667
P EPN001 Ependymoblastoma 44 0.368
668
THY030 Thyroid Gland Disease 50 0.368
669
GNG008 Ganglioneuroblastoma 46 0.368
670
c ATM017 Autoimmune Disease of the Nervous System 38 0.368
671
MRK001 Merkel Cell Carcinoma 64 0.368
672
GST049 Gastrointestinal System Cancer 49 0.368
673
CHR043 Chronic Inflammatory Demyelinating Polyneuritis 36 0.368
674
PPL001 Papillary Adenoma 44 0.368
675
FML008 Familial Retinoblastoma 49 0.368
676
UNL002 Unilateral Retinoblastoma 37 0.368
677
OST011 Osteomalacia 52 0.368
678
OCL011 Ocular Motility Disease 45 0.368
679
SPN021 Spinal Meningioma 43 0.368
680
NRN001 Neuroendocrine Carcinoma 47 0.368
681
MLG077 Malignant Peripheral Nerve Sheath Tumor 53 0.368
682
EXT010 Extramedullary Plasmacytoma 45 0.368
683
NRF003 Neurofibrosarcoma 43 0.368
684
RHB001 Rhabdoid Cancer 68 0.368
685
LNG031 Lung Benign Neoplasm 51 0.368
686
P ACT010 Acth-Secreting Pituitary Adenoma 60 0.368
687
HDG004 Hodgkin's Granuloma 22 0.368
688
MYL003 Myeloid Sarcoma 48 0.368
689
ANP009 Anaplastic Oligodendroglioma 41 0.368
690
CLR003 Clear Cell Adenocarcinoma 49 0.368
691
DSM007 Desmoplastic Small Round Cell Tumor 54 0.368
692
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 54 0.368
693
ANP008 Anaplastic Oligoastrocytoma 31 0.368
694
IND017 Indolent Plasma Cell Myeloma 41 0.368
695
HDG002 Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance 42 0.368
696
HYP705 Hyperadrenalism 24 0.368
697
OLG006 Oligoastrocytoma 35 0.368
698
HDG006 Hodgkin's Paragranuloma 22 0.368
699
P MXD050 Mixed Phenotype Acute Leukemia 46 0.368
700
ATX019 Ataxia with Vitamin E Deficiency 44 0.368
701
P BCL005 B Cell Prolymphocytic Leukemia 39 0.368
702
GRM010 Germ Cells Tumors 33 0.368
703
PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 27 0.368
704
PNC056 Pineocytoma 44 0.368
705
CHL079 Children's Interstitial Lung Disease 25 0.368
706
c HMG029 Hemoglobin Se Disease 41 0.368
707
NSS002 Neisseria Meningitidis Infection 46 0.368
708
CHR682 Chronic Bilirubin Encephalopathy 37 0.368
709
PPM002 Ppoma 28 0.368
710
LGH004 Light Chain Deposition Disease 40 0.368
711
ONC003 Oncogenic Osteomalacia 42 0.368
712
P BCL004 B-Cell Non-Hodgkin Lymphoma 41 0.368
713
ALK016 Alk-Negative Anaplastic Large Cell Lymphoma 44 0.368
714
PRT251 Proteinuria, Chronic Benign 58 0.359
715
P RHN004 Rhinitis 56 0.359
716
P HYP076 Hyperthyroidism 53 0.359
717
P VSC007 Vascular Disease 62 0.350
718
P BND020 Bone Disease 60 0.341
719
P GLM007 Glomerulonephritis 59 0.341
720
NWC001 Newcastle Disease 47 0.341
721
RNL065 Renal Cell Carcinoma, Papillary, 1 79 0.333
722
c WLM018 Wilms Tumor 5 53 0.333
723
CHR020 Chronic Interstitial Cystitis 36 0.333
724
P RNL017 Renal Oncocytoma 54 0.333
725
CHR177 Chromophobe Renal Cell Carcinoma 54 0.333
726
c SYS001 Systemic Lupus Erythematosus 85 0.331
727
MSC007 Muscle Hypertrophy 64 0.331
728
URT049 Urate Oxidase, Pseudogene 24 0.331
729
KRT019 Keratitis, Hereditary 66 0.331
730
MLD018 Mild Cognitive Impairment 48 0.331
731
P ESS003 Essential Thrombocythemia 68 0.331
732
P GST044 Gastritis 55 0.331
733
c ACT134 Acute Liver Failure 57 0.331
734
c BRN108 Branchiootic Syndrome 1 63 0.321
735
HYP679 Hypoglossia-Hypodactylia 33 0.321
736
P ART023 Arthropathy 59 0.321
737
ORL015 Oral Squamous Cell Carcinoma 43 0.311
738
ALL003 Allergic Rhinitis 66 0.301
739
P GST053 Gastric Cancer 82 0.301
740
c HYP836 Hypercholesterolemia, Familial, 1 73 0.301
741
P INT068 Intestinal Disease 53 0.301
742
GST033 Gestational Diabetes 60 0.301
743
CHR074 Choriocarcinoma 46 0.301
744
VTM002 Vitamin B12 Deficiency 48 0.290
745
P NPH012 Nephrotic Syndrome 61 0.290
746
CHG001 Chagas Disease 65 0.290
747
P DMN002 Dementia 65 0.290
748
DWR001 Dwarfism 44 0.290
749
ENT011 Enterocolitis 55 0.278
750
ALC006 Alcoholic Hepatitis 61 0.278
751
P URT039 Urticaria 57 0.278
752
ATH013 Atherosclerosis Susceptibility 63 0.267
753
STR067 Stroke, Ischemic 79 0.267
754
HYP561 Hypertelorism, Preauricular Sinus, Punctal Pits, and Deafness 26 0.267
755
CTN028 Cutaneous Telangiectasia and Cancer Syndrome, Familial 70 0.267
756
P TMR010 Tumor Predisposition Syndrome 69 0.267
758
GT001 Gout 63 0.267
759
INH023 Inherited Cancer-Predisposing Syndrome 53 0.267
760
PRP001 Propionic Acidemia 65 0.254
761
NRL016 Neural Tube Defects 80 0.254
762
HYP025 Hyperphosphatemia 47 0.254
763
P HYP750 Hypertriglyceridemia, Familial 61 0.254
764
THR024 Thrombosis 56 0.254
765
P ECL001 Eclampsia 52 0.254
766
PRP016 Paraplegia 52 0.254
767
CNS004 Constipation 56 0.254
768
P MTH008 Methylmalonic Acidemia 52 0.254
769
P PRN023 Prion Disease 60 0.254
770
SBC016 Subacute Delirium 42 0.254
771
P HYP055 Hypoplastic Left Heart Syndrome 65 0.254
772
SGW002 Segawa Syndrome, Autosomal Recessive 44 0.241
773
AND002 Androgen Insensitivity Syndrome 63 0.241
774
ACT088 Acute Insulin Response 39 0.241
775
P STR020 Strabismus 56 0.241
776
P AST005 Asthma 75 0.241
777
NNL006 Non-Alcoholic Steatohepatitis 54 0.241
778
P FLL037 Follicular Lymphoma 66 0.241
779
THR004 Thrombocytosis 52 0.241
780
P LNG028 Long Qt Syndrome 63 0.241
781
HYP014 Hyperuricemia 51 0.241
782
P SYS005 Systemic Scleroderma 73 0.241
783
P PLM036 Pulmonary Fibrosis 65 0.241
784
PLM010 Pulmonary Edema 54 0.241
785
AMN003 Amnestic Disorder 53 0.241
786
P GND004 Gonadal Dysgenesis 46 0.241
787
LYM009 Lymphocytic Choriomeningitis 46 0.241
788
P BRN022 Bronchiectasis 59 0.241
789
MCH006 Mechanical Strabismus 40 0.241
790
PRN019 Perinatal Necrotizing Enterocolitis 60 0.241
791
RNL077 Renal Fibrosis 46 0.227
792
c SPN225 Spondyloarthropathy 1 70 0.227
793
c ATM006 Autoimmune Lymphoproliferative Syndrome 75 0.227
794
ANR007 Anorexia Nervosa 59 0.227
795
CYS013 Cystinuria 66 0.227
796
c THY109 Thyroid Cancer, Nonmedullary, 1 55 0.227
797
c BTT014 Beta-Thalassemia 72 0.227
798
ESP021 Esophageal Cancer 84 0.227
799
GST023 Gastric Ulcer 52 0.227
800
P HYP069 Hyperparathyroidism 62 0.227
801
P GLY013 Glycogen Storage Disease 59 0.227
802
PLM029 Palmoplantar Keratosis 48 0.227
803
FBR047 Fibromyalgia 57 0.227
804
SPN051 Spondylitis 51 0.227
805
P HYP050 Hyperinsulinemic Hypoglycemia 56 0.227
806
P GRV001 Graves' Disease 54 0.227
807
MCR013 Microphthalmia 59 0.227
808
P AGG001 Aggressive Periodontitis 55 0.227
809
PLR008 Pleurisy 49 0.227
810
INF009 Inflammatory Spondylopathy 30 0.227
811
ISL099 Isolated Methylmalonic Acidemia 35 0.227
812
PRX001 Peroxisomal Disease 46 0.227
813
P CRB210 Cerebrofacial Arteriovenous Metameric Syndrome 27 0.227
814
GTP002 Gtp Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia 17 0.227
815
P HDC001 Headache 56 0.227
816
P OVR082 Overgrowth Syndrome 41 0.227
817
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.213
818
P CRN300 Coronary Heart Disease 1 73 0.213
819
HMC014 Homocysteinemia 52 0.213
820
INT323 Intraocular Pressure Quantitative Trait Locus 63 0.213
821
KPS004 Kaposi Sarcoma 76 0.213
822
HRT031 Hartnup Disorder 51 0.213
823
P RTN008 Retinitis Pigmentosa 79 0.213
825
P RSP003 Respiratory Failure 73 0.213
826
SPP007 Suppression Amblyopia 38 0.213
827
P DDN001 Duodenal Ulcer 52 0.213
828
PST028 Post-Traumatic Stress Disorder 58 0.213
829
AMB002 Amblyopia 49 0.213
830
BRN004 Brain Edema 54 0.213
831
P MYP006 Myopia 55 0.213
832
NRR001 Neuroretinitis 42 0.213
833
IGG001 Iga Glomerulonephritis 50 0.213
834
MTH009 Mouth Disease 57 0.213
835
ART016 Aortic Aneurysm 68 0.213
836
GTR002 Goiter 52 0.213
837
P GLL022 Guillain-Barre Syndrome 59 0.213
838
URL001 Urolithiasis 45 0.213
839
MCR011 Microinvasive Gastric Cancer 41 0.213
840
RTN023 Retinitis 45 0.213
841
PLG002 Plague 58 0.213
842
P MYC008 Myocarditis 59 0.213
843
CHR066 Chronic Fatigue Syndrome 59 0.213
844
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 46 0.213
845
P MTR004 Maturity-Onset Diabetes of the Young 66 0.197
846
RTN017 Retinal Detachment 60 0.197
847
PHS025 Phosphatase, Acid, of Tissues 28 0.197
848
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.197
849
c HYD046 Hydatidiform Mole, Recurrent, 1 59 0.197
850
LRN002 Laron Syndrome 62 0.197
851
LPP008 Lipoprotein Quantitative Trait Locus 65 0.197
852
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 0.197
853
IFP003 Ifap Syndrome 2 41 0.197
855
MYL013 Myeloperoxidase Deficiency 44 0.197
856
P ASP006 Aspergillosis 71 0.197
857
DBT087 Diabetes Insipidus, Neurohypophyseal 58 0.197
858
c MLT159 Multiple Endocrine Neoplasia, Type Iib 60 0.197
859
HLC007 Helicobacter Pylori Infection 67 0.197
860
P FTL001 Fetal Alcohol Syndrome 55 0.197
861
BCT021 Bacterial Sepsis 43 0.197
862
P SNS001 Sensorineural Hearing Loss 60 0.197
863
AMT001 Ametropic Amblyopia 26 0.197
864
BLN006 Blind Loop Syndrome 35 0.197
865
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.197
866
P GCH001 Gaucher's Disease 69 0.197
867
EXC002 Exocrine Pancreatic Insufficiency 42 0.197
868
P ALC033 Alcohol Use Disorder 67 0.197
869
P HRM001 Hermansky-Pudlak Syndrome 65 0.197
870
MDD018 Middle East Respiratory Syndrome 44 0.197
871
P PRP029 Porphyria 60 0.197
872
P KDN017 Kidney Cancer 60 0.197
873
INT066 Interstitial Lung Disease 60 0.197
874
GST010 Gestational Trophoblastic Neoplasm 52 0.197
875
P HYP061 Hypertrophic Cardiomyopathy 68 0.197
876
RNL011 Renal Osteodystrophy 48 0.197
877
FLR002 Filariasis 55 0.197
878
CMP034 Complete Androgen Insensitivity Syndrome 55 0.197
879
P HYP035 Hypophosphatasia 61 0.197
880
P ATS308 Autosomal Dominant Cerebellar Ataxia 64 0.197
881
DYS015 Dysentery 49 0.197
882
P PMP001 Pemphigus 54 0.197
883
CHC001 Chickenpox 56 0.197
884
CND006 Candida Glabrata 29 0.197
885
GRN017 Granulocytopenia 42 0.197
886
IRR002 Irritable Bowel Syndrome 64 0.197
887
MTH086 Methotrexate Toxicity 33 0.197
888
GLB021 Global Developmental Delay, Absent or Hypoplastic Corpus Callosum, and Dysmorphic Facies 38 0.180
889
PSR001 Psoriatic Arthritis 61 0.180
890
P CTR077 Citrullinemia, Type Ii, Neonatal-Onset 41 0.180
891
CHD001 Chediak-Higashi Syndrome 66 0.180
892
CTR172 Citrullinemia, Classic 64 0.180
893
c NRF024 Neurofibromatosis, Type I 76 0.180
894
c ERY058 Erythrocytosis, Familial, 1 55 0.180
895
c SCL052 Scleroderma, Familial Progressive 60 0.180
896
c SML038 Small Cell Cancer of the Lung 68 0.180
897
BTN003 Biotinidase Deficiency 61 0.180
898
c GLC092 Glaucoma, Primary Open Angle 60 0.180
899
CRD132 Cardiac Conduction Defect 59 0.180
900
GST092 Gastroesophageal Reflux 59 0.180
902
AGN018 Agenesis of Corpus Callosum, Cardiac, Ocular, and Genital Syndrome 58 0.180
903
RSP019 Respiratory Distress Syndrome in Premature Infants 52 0.180
904
c THY107 Thymoma, Familial 42 0.180
905
LKC009 Leukocyte Adhesion Deficiency, Type I 69 0.180
906
P PLT029 Platelet Groups--Ko System 15 0.180
907
P LPR021 Leprosy 3 71 0.180
908
HYP020 Hyperprolactinemia 63 0.180
909
CHL065 Cholangiocarcinoma 57 0.180
910
PMP006 Pemphigus Vulgaris, Familial 57 0.180
911
RBS001 Rabies 57 0.180
912
DSS009 Disseminated Intravascular Coagulation 56 0.180
913
P SHR001 Short Bowel Syndrome 53 0.180
914
P AML002 Amelogenesis Imperfecta 56 0.180
915
P THY023 Thymoma 64 0.180
916
c CNT035 Central Nervous System Disease 53 0.180
917
P MTR014 Motor Neuron Disease 65 0.180
918
PSY004 Psychotic Disorder 66 0.180
919
GNG013 Gingivitis 59 0.180
920
INT079 Intrahepatic Cholangiocarcinoma 51 0.180
921
P OPN001 Open-Angle Glaucoma 55 0.180
922
P HYD006 Hydrocephalus 62 0.180
923
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.180
924
P MST009 Mastocytosis 64 0.180
925
PLC008 Placenta Disease 48 0.180
926
MCL003 Macular Holes 44 0.180
927
BSL008 Basal Ganglia Disease 41 0.180
928
P LMB006 Limb-Girdle Muscular Dystrophy 52 0.180
929
BRN056 Bronchopulmonary Dysplasia 57 0.180
930
HNS001 Hansen's Disease 32 0.180
931
PTT037 Pituitary Tumors 44 0.180
932
OVR094 Ovarian Epithelial Cancer 39 0.180
933
PRN029 Parainfluenza Virus Type 3 32 0.180
934
ACY011 Acyl-Coa Dehydrogenase Deficiency 31 0.180
935
P SLW003 Slow-Channel Congenital Myasthenic Syndrome 36 0.180
936
P CRB088 Cerebral Atrophy 32 0.180
937
MTH047 Methanol Poisoning 37 0.180
938
ACT119 Acute Promyelocytic Leukemia 62 0.161
939
INT029 Interleukin-7 Receptor Alpha Deficiency 27 0.161
940
P SLP006 Sleep Apnea 69 0.161
941
SVN002 Sveinsson Chorioretinal Atrophy 45 0.161
942
CYS019 Cystathioninuria 46 0.161
943
MCK029 Meckel Diverticulum 38 0.161
944
3HY007 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency 51 0.161
945
P FML018 Familial Mediterranean Fever 73 0.161