Search results for Phenylalanine

732 hits were found for Phenylalanine

# Family MCID Name MIFTS Score
1
PHN003 Phenylketonuria 75 8.924
2
DSR025 Disorder of Phenylalanine Metabolism 9 2.646
3
DSR073 Disorder of Phenylalanin or Tyrosine Metabolism 3 2.622
4
HYP141 Hyperphenylalaninemia 39 0.427
5
MLD011 Mild Hyperphenylalaninemia 26 0.178
6
CLS049 Classic Phenylketonuria 35 0.166
7
HRT015 Heritable Pulmonary Arterial Hypertension 44 0.157
8
ATS010 Autosomal Recessive Disease 48 0.155
9
HLX001 Helix Syndrome 47 0.144
10
PRT037 Pertussis 65 0.131
11
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 60 0.126
12
c INH020 Inherited Metabolic Disorder 47 0.126
13
c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 0.126
14
P GLM045 Glioma 63 0.123
15
GLL048 Glial Tumor 45 0.123
16
P TYR004 Tyrosinemia 58 0.111
17
P MCR010 Microcephaly 59 0.105
18
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.094
19
PNG002 Pain Agnosia 51 0.091
20
P LVR013 Liver Disease 68 0.087
21
LVR012 Liver Cirrhosis 62 0.087
22
TRD008 Triiodothyronine Receptor Auxiliary Protein 34 0.087
23
GLB015 Glioblastoma Multiforme 75 0.083
24
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.083
25
TTR005 Tetrahydrobiopterin Deficiency 45 0.083
26
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 64 0.079
27
P NTR004 Neutropenia 63 0.079
28
48X005 48,xyyy 39 0.079
29
c HYP368 Hyperphenylalaninemia, Bh4-Deficient, C 37 0.079
30
c DNT047 Dentinogenesis Imperfecta Type 2 31 0.079
31
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 90 0.074
32
P NRB001 Neuroblastoma 72 0.074
33
P MPL001 Maple Syrup Urine Disease 69 0.074
34
P DYS154 Dystonia 65 0.074
35
P RHB003 Rhabdomyosarcoma 63 0.074
36
P ENC018 Encephalopathy 61 0.074
37
P SZR006 Seizure Disorder 56 0.074
38
TRD006 Tardive Dyskinesia 54 0.074
39
NTR046 Neutrophil Migration 50 0.074
40
MTR016 Maternal Hyperphenylalaninemia 19 0.074
41
CYS001 Cystic Fibrosis 81 0.069
42
P SCH015 Schizophrenia 74 0.069
43
OST159 Osteogenic Sarcoma 66 0.069
44
HYP056 Hypoglycemia 66 0.069
45
DPR016 Depression 63 0.069
46
HND015 Hand Skill, Relative 33 0.069
47
P OVR042 Ovarian Cancer 88 0.064
48
c HYP595 Hypertension, Essential 84 0.064
49
P KDN018 Kidney Disease 72 0.064
50
ADL002 Adult Syndrome 70 0.064
51
CHL014 Cholera 59 0.064
52
VSL002 Visual Epilepsy 59 0.064
53
ERY051 Erythroleukemia, Familial 56 0.064
54
HYP060 Hyperinsulinism 54 0.064
55
47X002 47,xyy 49 0.064
56
P LNG064 Lung Cancer Susceptibility 3 78 0.059
57
ANX010 Anxiety 73 0.059
58
P PHC003 Pheochromocytoma 71 0.059
59
P MLN008 Melanoma 69 0.059
60
SRC014 Sarcoma 65 0.059
61
P CTR002 Cataract 60 0.059
62
ANT024 Anthrax Disease 58 0.059
63
BCT022 Bacterial Infectious Disease 56 0.059
64
END040 Endogenous Depression 55 0.059
65
P INF037 Inflammatory Bowel Disease 54 0.059
66
SPN035 Spindle Cell Sarcoma 53 0.059
67
P SCK005 Sickle Cell Disease 50 0.059
68
P CLL015 Collagen Disease 47 0.059
69
ADR040 Adrenal Gland Pheochromocytoma 46 0.059
70
c MLG068 Malignant Glioma 46 0.059
71
P CHR345 Chronic Pain 44 0.059
72
HRW001 Hair Whorl 36 0.059
73
P BRS047 Breast Cancer 97 0.052
74
MYL069 Myeloma, Multiple 85 0.052
75
MLR004 Malaria 81 0.052
76
OST012 Osteoarthritis 78 0.052
77
P PRK057 Parkinson Disease, Late-Onset 78 0.052
78
P EPL164 Epilepsy 71 0.052
79
c NRD033 Neurodegeneration with Brain Iron Accumulation 2a 69 0.052
80
P HYP086 Hypothyroidism 69 0.052
81
P LYM118 Lymphoma 68 0.052
82
P LKM002 Leukemia 68 0.052
83
PNC129 Pancreatic Adenocarcinoma 68 0.052
84
c TYR012 Tyrosinemia, Type I 66 0.052
85
P ATT013 Attention Deficit-Hyperactivity Disorder 65 0.052
86
P ADN016 Adenocarcinoma 64 0.052
87
DRM006 Dermatitis 61 0.052
88
DPH001 Diphtheria 60 0.052
89
HPT019 Hepatic Encephalopathy 60 0.052
90
c ACT073 Acute Leukemia 58 0.052
91
MNT002 Mental Depression 58 0.052
92
IRN002 Iron Metabolism Disease 57 0.052
93
DYS161 Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency 56 0.052
94
P LTR001 Lateral Sclerosis 54 0.052
95
END086 End Stage Renal Disease 51 0.052
96
HPT004 Hepatic Coma 45 0.052
97
ARG004 Argyria 27 0.052
98
c RNG015 Ring Chromosome 2 26 0.052
99
ADG002 Audiogenic Seizures 25 0.052
100
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.045
101
c LKM061 Leukemia, Acute Myeloid 84 0.045
102
P PNC035 Pancreatic Cancer 84 0.045
103
P GLM040 Glioma Susceptibility 1 81 0.045
104
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 0.045
105
c MNN043 Meningioma, Familial 74 0.045
106
SVR004 Severe Combined Immunodeficiency 73 0.045
107
c HPT073 Hepatitis C Virus 72 0.045
108
P ATS364 Autism 70 0.045
109
DFC004 Deficiency Anemia 70 0.045
110
c CHR684 Chronic Kidney Disease 70 0.045
111
PLY001 Polycythemia Vera 69 0.045
112
P LKM062 Leukemia, Acute Lymphoblastic 69 0.045
113
P HYP098 Hypereosinophilic Syndrome 67 0.045
114
c CNG006 Congenital Hypothyroidism 64 0.045
115
LPD008 Lipid Metabolism Disorder 62 0.045
116
c SVR001 Severe Acute Respiratory Syndrome 62 0.045
117
ALL026 Allergic Hypersensitivity Disease 62 0.045
118
MNN042 Meningioma, Radiation-Induced 62 0.045
119
CRC021 Carcinosarcoma 62 0.045
120
TXC005 Toxic Shock Syndrome 62 0.045
121
NTR005 Nutritional Deficiency Disease 62 0.045
122
P MYL006 Myeloid Leukemia 60 0.045
123
ACQ007 Acquired Immunodeficiency Syndrome 60 0.045
124
P CYS018 Cystitis 59 0.045
125
ALK013 Alkaptonuria 58 0.045
126
P CRD246 Cardiovascular System Disease 57 0.045
127
P PLY018 Polycythemia 56 0.045
128
DYS192 Dystonia, Dopa-Responsive 56 0.045
129
NRN004 Neuroendocrine Tumor 55 0.045
130
CRC006 Carcinoid Syndrome 55 0.045
131
GLS001 Gliosarcoma 54 0.045
132
P HMC002 Homocystinuria 53 0.045
133
P AST007 Astrocytoma 51 0.045
134
SPN021 Spinal Meningioma 50 0.045
135
P OBS001 Obstructive Jaundice 50 0.045
136
URM002 Uremia 49 0.045
137
BNR002 Bone Resorption Disease 48 0.045
138
c HYP331 Hyperphenylalaninemia, Bh4-Deficient, a 48 0.045
139
c TYR013 Tyrosinemia, Type Ii 47 0.045
140
CNT033 Central Nervous System Cancer 47 0.045
141
LYM019 Lymphosarcoma 46 0.045
142
CHD004 Chudley-Mccullough Syndrome 46 0.045
143
MXD026 Mixed Glioma 45 0.045
144
KWS001 Kwashiorkor 44 0.045
145
SCR001 Secretory Meningioma 41 0.045
146
LYM002 Lymphoplasmacyte-Rich Meningioma 36 0.045
147
c NRP064 Neuropathy, Congenital Hypomyelinating, 2 35 0.045
148
c RNG008 Ring Chromosome 13 31 0.045
150
HYP722 Hyperphenylalaninemia, Mild, Non-Bh4-Deficient 23 0.045
151
P CLR023 Colorectal Cancer 99 0.037
152
P ALZ034 Alzheimer Disease 88 0.037
153
P MDL005 Medulloblastoma 77 0.037
154
P BDY004 Body Mass Index Quantitative Trait Locus 11 76 0.037
155
c PLM164 Pulmonary Hypertension, Primary, 1 75 0.037
156
BRN028 Brain Cancer 74 0.037
157
END057 Endometrial Cancer 74 0.037
158
CRH001 Crohn's Disease 74 0.037
159
VNH007 Von Hippel-Lindau Syndrome 73 0.037
160
ULC004 Ulcerative Colitis 73 0.037
161
P RTN024 Retinoblastoma 73 0.037
162
LYM143 Lymphoma, Non-Hodgkin, Familial 72 0.037
163
P MLT020 Multiple Sclerosis 72 0.037
164
P GRF003 Graft-Versus-Host Disease 72 0.037
165
c LKM063 Leukemia, Chronic Myeloid 72 0.037
166
P WSK001 Wiskott-Aldrich Syndrome 72 0.037
167
HMN044 Human Immunodeficiency Virus Type 1 71 0.037
168
P AMY004 Amyloidosis 70 0.037
169
MYL009 Myelodysplastic Syndrome 70 0.037
170
P ART022 Arthritis 69 0.037
171
EWN003 Ewing Sarcoma 69 0.037
172
SKN019 Skin Melanoma 68 0.037
173
BRN024 Bronchitis 68 0.037
174
c HMP004 Hemophilia B 68 0.037
175
P THR014 Thrombocytopenia 67 0.037
176
P CRD119 Cardiac Arrest 67 0.037
177
P OLG002 Oligodendroglioma 67 0.037
178
c JVN004 Juvenile Myelomonocytic Leukemia 67 0.037
179
BRK010 Burkitt Lymphoma 67 0.037
180
CRB039 Cerebrovascular Disease 67 0.037
181
P CHR012 Chronic Granulomatous Disease 67 0.037
182
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 66 0.037
183
P MSC005 Muscular Dystrophy 66 0.037
184
P DRM053 Dermatitis, Atopic 66 0.037
185
P NRV007 Nervous System Disease 66 0.037
186
TTN003 Tetanus 65 0.037
187
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.037
188
c DBT099 Diabetes Mellitus, Type I 65 0.037
189
P ADL010 Adult Respiratory Distress Syndrome 65 0.037
190
P GLC113 Galactosemia I 64 0.037
191
P PRD008 Periodontitis 64 0.037
192
HMT002 Hematologic Cancer 62 0.037
193
P PSR002 Psoriasis 62 0.037
194
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 62 0.037
195
P VSC011 Vasculitis 62 0.037
196
ATM095 Autoimmune Disease 62 0.037
197
MDD011 Mood Disorder 62 0.037
198
MSL001 Measles 62 0.037
199
HYP066 Hyperglycemia 61 0.037
200
YLL002 Yellow Fever 61 0.037
201
P VNT002 Ventricular Septal Defect 60 0.037
202
LNG099 Lung Disease 60 0.037
203
VRC005 Varicose Veins 60 0.037
204
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 60 0.037
205
GRD007 Grade Iii Astrocytoma 59 0.037
206
IRN001 Iron Deficiency Anemia 59 0.037
207
GST045 Gastroenteritis 59 0.037
208
P BCL017 B-Cell Lymphoma 58 0.037
209
INT324 Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, and Genital Anomalies 58 0.037
210
P PRP019 Peripheral Nervous System Disease 58 0.037
211
c CHR417 Chronic Graft Versus Host Disease 57 0.037
212
CRB197 Carbonic Anhydrase Va Deficiency, Hyperammonemia Due to 57 0.037
213
P BPL003 Bipolar Disorder 56 0.037
214
P PLY011 Polycystic Ovary Syndrome 56 0.037
215
P MLT074 Multiple Endocrine Neoplasia 56 0.037
216
P MTC069 Mitochondrial Disorders 56 0.037
217
P NRP001 Neuropathy 56 0.037
218
ISL001 Islet Cell Tumor 56 0.037
219
P NRF002 Neurofibromatosis 56 0.037
220
AND020 Androgen Insensitivity, Partial 56 0.037
221
P DRR001 Diarrhea 55 0.037
222
PRT038 Protein-Energy Malnutrition 54 0.037
223
LYM040 Lymphoblastic Lymphoma 54 0.037
224
P TRM003 Tremor 54 0.037
225
c PRD040 Periodontitis, Chronic 53 0.037
226
c FML008 Familial Retinoblastoma 53 0.037
227
c MLN055 Melanoma, Cutaneous Malignant 10 52 0.037
228
c VRL010 Viral Hepatitis 52 0.037
229
PST011 Pustulosis of Palm and Sole 52 0.037
230
c ACT135 Acute Graft Versus Host Disease 52 0.037
231
P BRN035 Brain Stem Glioma 52 0.037
232
P HMP007 Hemophilia 51 0.037
233
P LCT001 Lactic Acidosis 51 0.037
234
ESP002 Esophageal Varix 51 0.037
235
TRM010 Traumatic Brain Injury 51 0.037
236
FBR008 Fibrillary Astrocytoma 51 0.037
237
HYP781 Hypoascorbemia 51 0.037
238
GNT002 Giant Cell Glioblastoma 50 0.037
239
LNG015 Lingual-Facial-Buccal Dyskinesia 50 0.037
240
HMG002 Hemoglobinuria 50 0.037
241
P PNB001 Pineoblastoma 50 0.037
242
ILT001 Ileitis 50 0.037
243
VCC001 Vaccinia 49 0.037
244
LRN003 Learning Disability 49 0.037
245
HST010 Histiocytosis 48 0.037
246
HST006 Histidinemia 48 0.037
247
PRL017 Prolymphocytic Leukemia 47 0.037
248
HYP016 Hypochondriasis 47 0.037
249
RTC005 Reticulosarcoma 47 0.037
250
P MYC033 Myoclonus 46 0.037
251
ATX038 Ataxia and Polyneuropathy, Adult-Onset 45 0.037
252
c ADL023 Adult Medulloblastoma 44 0.037
253
ANP009 Anaplastic Oligodendroglioma 43 0.037
254
P HYP605 Hyperphenylalaninemia, Bh4-Deficient, B 43 0.037
255
P HYP265 Hypotonia 43 0.037
256
P STR092 Striatal Degeneration, Autosomal Dominant 2 42 0.037
257
MST004 Mast Cell Neoplasm 42 0.037
258
TTT001 Tatton-Brown-Rahman Syndrome 41 0.037
259
c MJR024 Major Affective Disorder 9 41 0.037
260
ANX004 Anoxia 40 0.037
261
EXT007 Extracutaneous Mastocytoma 38 0.037
262
c MJR022 Major Affective Disorder 8 38 0.037
263
GRM010 Germ Cells Tumors 34 0.037
264
c ADL008 Adult Oligodendroglioma 34 0.037
265
PPL052 Papillomatosis, Confluent and Reticulated 33 0.037
266
c CHR064 Chronic Monocytic Leukemia 33 0.037
267
c ADL054 Adult Brain Stem Glioma 30 0.037
268
PST092 Posttransplant Acute Limbic Encephalitis 29 0.037
269
P CNT036 Central Nervous System Germ Cell Tumor 28 0.037
270
AMN012 Aminoacidopathies 21 0.037
271
c ADL025 Adult Pineoblastoma 20 0.037
272
TYR015 Tyrosinosis 20 0.037
273
P HPT023 Hepatocellular Carcinoma 100 0.026
274
P PRS040 Prostate Cancer 97 0.026
275
c SYS001 Systemic Lupus Erythematosus 86 0.026
276
c FNC027 Fanconi Anemia, Complementation Group a 81 0.026
277
STR067 Stroke, Ischemic 81 0.026
278
P RHM011 Rheumatoid Arthritis 80 0.026
279
SQM013 Squamous Cell Carcinoma, Head and Neck 80 0.026
280
P BLD134 Bladder Cancer 79 0.026
281
P LKM071 Leukemia, Chronic Lymphocytic 79 0.026
282
INS024 Insulin-Like Growth Factor I 79 0.026
283
IMM167 Immune Deficiency Disease 78 0.026
284
RNL114 Renal Cell Carcinoma, Nonpapillary 78 0.026
285
AST005 Asthma 76 0.026
286
CRV035 Cervical Cancer 76 0.026
287
P HRT032 Heart Disease 75 0.026
288
P APL001 Aplastic Anemia 74 0.026
289
P RSP003 Respiratory Failure 74 0.026
290
SCK003 Sickle Cell Anemia 74 0.026
291
PLM129 Pulmonary Disease, Chronic Obstructive 73 0.026
292
P CNR004 Cone-Rod Dystrophy 2 73 0.026
293
MSC157 Muscular Dystrophy, Duchenne Type 72 0.026
294
P HNT016 Huntington Disease 72 0.026
295
c MLT156 Multiple Endocrine Neoplasia, Type I 72 0.026
296
OTT002 Otitis Media 72 0.026
297
PRP027 Peripheral Vascular Disease 71 0.026
298
P SRC025 Sarcoidosis 1 70 0.026
299
LPD012 Lipoid Congenital Adrenal Hyperplasia 70 0.026
300
DWN001 Down Syndrome 70 0.026
301
MYL005 Myelofibrosis 70 0.026
302
c MLT160 Multiple Endocrine Neoplasia, Type Iia 70 0.026
303
P MYP004 Myopathy 70 0.026
304
P TBR001 Tuberous Sclerosis 70 0.026
305
CNG034 Congestive Heart Failure 69 0.026
306
P DMN001 Diamond-Blackfan Anemia 69 0.026
307
PLM001 Pulmonary Tuberculosis 69 0.026
308
P MCP040 Mucopolysaccharidosis-Plus Syndrome 69 0.026
309
P TYS001 Tay-Sachs Disease 69 0.026
310
LYM133 Lymphoma, Hodgkin, Classic 69 0.026
311
P ANG001 Angelman Syndrome 69 0.026
312
P MYC084 Mycobacterium Tuberculosis 1 68 0.026
313
OBS002 Obsessive-Compulsive Disorder 68 0.026
314
P MYS003 Myasthenia Gravis 68 0.026
315
P INF038 Influenza 68 0.026
316
RCK004 Rickets 68 0.026
317
P MJR001 Major Depressive Disorder 68 0.026
318
GST092 Gastroesophageal Reflux 67 0.026
319
P HPT021 Hepatitis 67 0.026
320
P DYS007 Dyskeratosis Congenita 67 0.026
321
c INF071 Inflammatory Bowel Disease 1 67 0.026
322
THY111 Thyroid Carcinoma, Familial Medullary 67 0.026
323
P TRN020 Turner Syndrome 67 0.026
324
FLL027 Fallopian Tube Carcinoma 67 0.026
325
c ATS007 Autism Spectrum Disorder 67 0.026
326
P PLM037 Pulmonary Hypertension 67 0.026
327
c MGR028 Migraine with or Without Aura 1 67 0.026
328
c RHB024 Rhabdomyosarcoma 2 67 0.026
329
ANM044 Anemia, X-Linked, with or Without Neutropenia and/or Platelet Abnormalities 67 0.026
330
MYC006 Mycosis Fungoides 66 0.026
331
LPT001 Leptospirosis 66 0.026
332
P CLC063 Celiac Disease 1 66 0.026
333
ALC007 Alcohol Dependence 66 0.026
334
P DMN002 Dementia 66 0.026
335
P SKN015 Skin Carcinoma 66 0.026
336
P NSP012 Nasopharyngeal Carcinoma 66 0.026
337
P CNG001 Congenital Myasthenic Syndrome 66 0.026
338
P BRL012 Bare Lymphocyte Syndrome, Type Ii 66 0.026
339
P MNN013 Meningitis 66 0.026
340
MYL031 Myeloproliferative Neoplasm 66 0.026
341
c SML038 Small Cell Cancer of the Lung 65 0.026
342
P VNW001 Von Willebrand's Disease 65 0.026
343
P LPS002 Liposarcoma 65 0.026
344
P HRP006 Herpes Simplex 65 0.026
345
c WLM013 Wilms Tumor 1 65 0.026
346
P RHB008 Rhabdoid Tumor Predisposition Syndrome 1 65 0.026
347
P PRS038 Personality Disorder 65 0.026
348
CLN015 Colon Adenocarcinoma 65 0.026
349
P ART062 Arthrogryposis, Renal Dysfunction, and Cholestasis 1 65 0.026
350
P DBT009 Diabetes Mellitus 64 0.026
351
PRT036 Peritonitis 64 0.026
352
LYM129 Lymphoma, Mucosa-Associated Lymphoid Type 64 0.026
353
CLF027 Cleft Palate, Isolated 64 0.026
354
DGR001 Digeorge Syndrome 64 0.026
355
P PLZ001 Pelizaeus-Merzbacher Disease 64 0.026
356
MSC007 Muscle Hypertrophy 64 0.026
357
MGK001 Megakaryocytic Leukemia 64 0.026
358
P HML002 Hemolytic Anemia 63 0.026
359
P BLD124 Bleeding Disorder, Platelet-Type, 11 63 0.026
360
TYP007 Typhoid Fever 63 0.026
361
P VSC007 Vascular Disease 63 0.026
362
c HYP794 Hyperoxaluria, Primary, Type I 63 0.026
363
CNT061 Conotruncal Heart Malformations 63 0.026
364
P CRG003 Crigler-Najjar Syndrome, Type I 63 0.026
365
SKN016 Skin Disease 63 0.026
366
CHN016 Cohen Syndrome 63 0.026
367
P MVM001 Movement Disease 63 0.026
368
c ACT068 Acute Cystitis 63 0.026
369
RHB001 Rhabdoid Cancer 63 0.026
370
c FNC043 Fanconi Anemia, Complementation Group E 62 0.026
371
c HPT001 Hepatitis C 62 0.026
372
P PLY014 Polycystic Kidney Disease 62 0.026
373
c HPT003 Hepatitis a 62 0.026
374
P TRC086 Trichohepatoenteric Syndrome 1 62 0.026
375
LSC001 Lesch-Nyhan Syndrome 62 0.026
376
P PRM002 Primary Hyperoxaluria 62 0.026
377
P PRM006 Primary Biliary Cirrhosis 62 0.026
378
P INT143 Interstitial Cystitis 61 0.026
379
NRM001 Neuromyelitis Optica 61 0.026
380
P HYP097 Hyperekplexia 61 0.026
381
FTT001 Fatty Liver Disease 61 0.026
382
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61 0.026
383
WST001 West Syndrome 61 0.026
384
P ENC004 Encephalitis 61 0.026
385
WLD007 Waldenstroem's Macroglobulinemia 61 0.026
386
c WLM018 Wilms Tumor 5 61 0.026
387
VRL011 Viral Infectious Disease 61 0.026
388
P LPS004 Lupus Erythematosus 61 0.026
389
NRL005 Neurilemmoma 60 0.026
390
SPN186 Spinal Cord Injury 60 0.026
391
SZR001 Sezary's Disease 60 0.026
392
P CRB101 Cerebrooculofacioskeletal Syndrome 1 60 0.026
393
P BNG030 Benign Ependymoma 60 0.026
394
c EPS042 Episodic Ataxia, Type 1 60 0.026
395
PMS001 Poems Syndrome 60 0.026
396
ORL011 Oral Cancer 60 0.026
397
INS001 Insulinoma 60 0.026
398
STF001 Stiff-Person Syndrome 60 0.026
399
P THL005 Thalassemia 60 0.026
400
P CHR285 Chronic Myelomonocytic Leukemia 60 0.026
401
DRR014 Darier-White Disease 60 0.026
402
DYS164 Dyskeratosis Congenita, X-Linked 60 0.026
403
P BRN019 Bernard-Soulier Syndrome 60 0.026
404
SPP011 Suppression of Tumorigenicity 12 59 0.026
405
P EPS003 Episodic Ataxia 59 0.026
406
PRT013 Portal Hypertension 59 0.026
407
P LKD001 Leukodystrophy 59 0.026
408
P BRN022 Bronchiectasis 59 0.026
409
THY029 Thyroid Carcinoma 59 0.026
410
MTC097 Mitochondrial Complex Iv Deficiency 59 0.026
411
P SLP005 Sleep Disorder 59 0.026
412
PLM033 Pulmonary Embolism 59 0.026
413
P LYM033 Lymphoproliferative Syndrome 59 0.026
414
P MLN069 Melanoma, Uveal 59 0.026
415
P BRS044 Breast Adenocarcinoma 59 0.026
416
P HMN036 Hemangiopericytoma, Malignant 59 0.026
417
BRN002 Bronchiolitis 59 0.026
418
P DNG005 Dengue Virus 59 0.026
419
ADN018 Adenoma 59 0.026
420
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 59 0.026
421
PPT005 Peptic Ulcer Disease 59 0.026
422
P ANP001 Anaplastic Large Cell Lymphoma 58 0.026
423
CNT047 Contact Dermatitis 58 0.026
424
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.026
425
DSS008 Disease of Mental Health 58 0.026
426
c DWL002 Dowling-Degos Disease 1 58 0.026
427
LYM027 Lymphopenia 58 0.026
428
LNG108 Langerhans Cell Histiocytosis 58 0.026
429
ACR056 Acrodermatitis Enteropathica, Zinc-Deficiency Type 57 0.026
430
P INF032 Infertility 57 0.026
431
GLS018 Glass Syndrome 57 0.026
432
c CHL119 Cholangitis, Primary Sclerosing 57 0.026
433
CHR070 Chronic Inflammatory Demyelinating Polyradiculoneuropathy 57 0.026
434
P EXN002 Exanthem 57 0.026
435
THY122 Thyroid Gland Cancer 57 0.026
436
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.026
437
THR024 Thrombosis 57 0.026
438
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 57 0.026
439
CHR177 Chromophobe Renal Cell Carcinoma 57 0.026
440
c LKM070 Leukemia, Acute Monocytic 57 0.026
441
P CTR177 Citrullinemia, Type Ii, Adult-Onset 57 0.026
442
CYT008 Cytomegalovirus Infection 57 0.026
443
P ADL017 Adult T-Cell Leukemia 56 0.026
444
CMR002 Coumarin Resistance 56 0.026
445
c LKM060 Leukemia, Acute Lymphoblastic 3 56 0.026
446
HPT046 Hepatic Veno-Occlusive Disease 56 0.026
447
ALL006 Allergic Asthma 56 0.026
448
PLS011 Plasmacytoma 56 0.026
449
SFT003 Soft Tissue Sarcoma 56 0.026
450
ALL010 Allergic Contact Dermatitis 56 0.026
451
c MCR256 Microphthalmia, Syndromic 9 56 0.026
452
P PLY019 Polyneuropathy 56 0.026
453
AGN016 Aging 56 0.026
454
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 55 0.026
455
ZLL002 Zollinger-Ellison Syndrome 55 0.026
456
DFF005 Diffuse Large B-Cell Lymphoma 55 0.026
457
P PLM034 Pulmonary Emphysema 55 0.026
458
P DYS193 Dystonia 11, Myoclonic 55 0.026
459
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 55 0.026
460
EPT010 Epithelial-Myoepithelial Carcinoma 55 0.026
461
P GNR002 Generalized Epilepsy with Febrile Seizures Plus 55 0.026
462
P SLM003 Salmonellosis 55 0.026
463
HRY003 Hairy Cell Leukemia 55 0.026
464
ACT193 Acute Myeloid Leukemia with Abnormal Bone Marrow Eosinophils Inv(16)(p13q22) or T(16;16)(p13;q22) 54 0.026
465
MNN032 Meningococcal Meningitis 54 0.026
466
GLC003 Glucose Intolerance 54 0.026
467
P ALP008 Alopecia 54 0.026
468
P ICH004 Ichthyosis 54 0.026
469
c ATM082 Autoimmune Lymphoproliferative Syndrome, Type V 54 0.026
470
CLL010 Cellular Ependymoma 54 0.026
471
WST005 West Nile Virus 54 0.026
472
MYM001 Myoma 54 0.026
473
SNS003 Sensory Peripheral Neuropathy 54 0.026
474
PTT009 Pituitary Gland Disease 54 0.026
475
P TCD001 Tic Disorder 53 0.026
476
c DMN023 Diamond-Blackfan Anemia 1 53 0.026
477
LMB002 Lambert-Eaton Myasthenic Syndrome 53 0.026
478
P MNC007 Monocytic Leukemia 53 0.026
479
PRP036 Peripheral T-Cell Lymphoma 53 0.026
480
CRH005 Crohn's Colitis 53 0.026
481
P RNL017 Renal Oncocytoma 53 0.026
482
MST005 Mastitis 53 0.026
483
FNG017 Fungal Infectious Disease 53 0.026
484
CLF001 Cleft Lip 53 0.026
485
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 53 0.026
486
P FBR031 Febrile Seizures 53 0.026
487
NRT001 Neurotic Disorder 53 0.026
488
TXC002 Toxic Encephalopathy 53 0.026
489
c GLL024 Gallbladder Disease 1 53 0.026
490
c HYP326 Hyperinsulinemic Hypoglycemia, Familial, 5 53 0.026
491
c MCR113 Microvascular Complications of Diabetes 3 52 0.026
492
CHR073 Choreatic Disease 52 0.026
493
RTN193 Retinitis Pigmentosa and Erythrocytic Microcytosis 52 0.026
494
ANG046 Angioimmunoblastic T-Cell Lymphoma 52 0.026
495
OST011 Osteomalacia 52 0.026
496
ACR041 Acromelic Frontonasal Dysostosis 52 0.026
497
SMT003 Somatostatinoma 52 0.026
498
c BDY021 Body Mass Index Quantitative Trait Locus 20 52 0.026
499
PLS007 Plasmodium Falciparum Malaria 52 0.026
500
MRG003 Marginal Zone B-Cell Lymphoma 52 0.026
501
c ACR116 Aicardi-Goutieres Syndrome 1 52 0.026
502
THY030 Thyroid Gland Disease 52 0.026
503
P MSC003 Muscular Atrophy 52 0.026
504
LGN006 Legionnaire Disease 52 0.026
505
ACT200 Acute Monoblastic Leukemia 52 0.026
506
c BDY020 Body Mass Index Quantitative Trait Locus 19 52 0.026
507
P SPP010 Suppressor of Tumorigenicity 3 51 0.026
508
OCL069 Ocular Motor Apraxia 51 0.026
509
FDL002 Food Allergy 51 0.026
510
CND002 Conduct Disorder 51 0.026
511
c PNC106 Pancreatic Agenesis 1 51 0.026
512
LNG031 Lung Benign Neoplasm 51 0.026
513
c VRL007 Viral Encephalitis 51 0.026
514
TLR001 Tularemia 51 0.026
515
CRV040 Cervix Carcinoma 51 0.026
516
P CHL066 Cholangitis 51 0.026
517
ACT017 Acute Chest Syndrome 51 0.026
518
HYP081 Hypolipoproteinemia 51 0.026
519
c ALM001 Al Amyloidosis 50 0.026
520
SCB001 Scabies 50 0.026
521
LNT004 Lentigines 50 0.026
522
c PRM012 Primary Polycythemia 50 0.026
523
P FNC004 Fanconi Syndrome 50 0.026
524
c PYR010 Peyronie's Disease 50 0.026
525
c HYP271 Hyperinsulinemic Hypoglycemia, Familial, 4 50 0.026
526
CRT013 Carotid Stenosis 50 0.026
527
STM007 Stomatitis 50 0.026
528
THY125 Thyroid Gland Medullary Carcinoma 50 0.026
529
c INF145 Infantile Liver Failure Syndrome 1 50 0.026
530
PRT018 Portal Vein Thrombosis 50 0.026
531
PRN009 Paranoid Schizophrenia 50 0.026
532
MTB004 Metabolic Acidosis 50 0.026
533
BLR001 Biliary Atresia 50 0.026
534
TRP002 Tropical Spastic Paraparesis 50 0.026
535
c VNW010 Von Willebrand Disease, Type 2 50 0.026
536
VPM001 Vipoma 50 0.026
537
CLR003 Clear Cell Adenocarcinoma 50 0.026
538
TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 50 0.026
539
OCL022 Ocular Melanoma 50 0.026
540
SCR037 Sucrase-Isomaltase Deficiency, Congenital 50 0.026
541
HRT011 Heart Septal Defect 50 0.026
542
c INF023 Inflammatory Breast Carcinoma 50 0.026
543
P OCL001 Ocular Albinism 50 0.026
544
HYP017 Hypophosphatemia 50 0.026
545
TCL002 T-Cell Large Granular Lymphocyte Leukemia 49 0.026
546
ATY042 Atypical Chronic Myeloid Leukemia 49 0.026
547
c CHR418 Chronic Leukemia 49 0.026
548
OPP004 Oppositional Defiant Disorder 49 0.026
549
PPL021 Papilledema 49 0.026
550
P EST001 Estrogen-Receptor Positive Breast Cancer 49 0.026
551
MYL075 Myelodysplastic/myeloproliferative Neoplasm 49 0.026
552
P MTC133 Mitochondrial Myopathy 49 0.026
553
CMB003 Combined T Cell and B Cell Immunodeficiency 49 0.026
554
SPT005 Spotted Fever 49 0.026
555
MCR004 Macroglobulinemia 49 0.026
556
GST049 Gastrointestinal System Cancer 49 0.026
557
CHL004 Cholelithiasis 49 0.026
558
MYL003 Myeloid Sarcoma 49 0.026
559
MTC005 Mitochondrial Metabolism Disease 49 0.026
560
P CTN015 Cutaneous T Cell Lymphoma 49 0.026
561
c BCT013 Bacterial Pneumonia 48 0.026
562
WTH001 Withdrawal Disorder 48 0.026
563
CCN001 Cocaine Dependence 48 0.026
564
OLF005 Olfactory Neuroblastoma 48 0.026
565
RFR010 Refractory Anemia 48 0.026
566
ACT098 Acute Erythroid Leukemia 48 0.026
567
P SCL009 Sclerosing Cholangitis 48 0.026
568
c LKM056 Leukemia, Chronic Lymphocytic 2 48 0.026
569
GNG008 Ganglioneuroblastoma 48 0.026
570
PNC034 Pancreas Disease 48 0.026
571
SPL018 Splenomegaly 48 0.026
572
P PLY020 Polyradiculoneuropathy 48 0.026
573
c BDY005 Body Mass Index Quantitative Trait Locus 9 48 0.026
574
GRM005 Germ Cell Cancer 47 0.026
575
DRG003 Drug Dependence 47 0.026
576
CRC014 Carcinoid Tumors, Intestinal 47 0.026
577
CRN017 Coronary Thrombosis 47 0.026
578
KRT008 Keratopathy 47 0.026
579
NRN001 Neuroendocrine Carcinoma 47 0.026
580
c MCR120 Microvascular Complications of Diabetes 7 47 0.026
581
KRT002 Keratomalacia 47 0.026
582
LYM012 Lymphoplasmacytic Lymphoma 47 0.026
583
SRT004 Serotonin Syndrome 47 0.026
584
SHR059 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 47 0.026
585
c BDY019 Body Mass Index Quantitative Trait Locus 18 47 0.026
586
TCL028 T-Cell Lymphoblastic Leukemia/lymphoma 47 0.026
587
GST071 Gastrointestinal Carcinoma 47 0.026
588
OST062 Osteoarthritis with Mild Chondrodysplasia 47 0.026
589
PLS025 Plasmablastic Lymphoma 47 0.026
590
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 47 0.026
591
OPS006 Opsoclonus-Myoclonus Syndrome 47 0.026
592
MNC019 Monocarboxylate Transporter 1 Deficiency 47 0.026
593
NSS002 Neisseria Meningitidis Infection 47 0.026
594
P PRC019 Precocious Puberty 46 0.026
595
ACT113 Acute Myeloblastic Leukemia with Maturation 46 0.026
596
c CNT075 Central Precocious Puberty 46 0.026
597
ALB002 Albinism 46 0.026
598
TST014 Testicular Cancer 46 0.026
599
MYC005 Myocardial Stunning 46 0.026
600
c BDY010 Body Mass Index Quantitative Trait Locus 4 46 0.026
601
c BDY015 Body Mass Index Quantitative Trait Locus 12 46 0.026
602
P BRB001 Beriberi 46 0.026
603
GST030 Gastrinoma 45 0.026
604
EXT010 Extramedullary Plasmacytoma 45 0.026
605
c EST002 Estrogen-Receptor Negative Breast Cancer 45 0.026
606
c BDY017 Body Mass Index Quantitative Trait Locus 14 45 0.026
607
TRT001 Teratocarcinoma 45 0.026
608
c BDY011 Body Mass Index Quantitative Trait Locus 10 45 0.026
609
CRB004 Cerebral Artery Occlusion 45 0.026
610
PNC056 Pineocytoma 45 0.026
611
LYM051 Lymphomatoid Granulomatosis 45 0.026
612
GLC036 Glucagonoma 45 0.026
613
BRN032 Brain Glioma 45 0.026
614
AGR002 Agoraphobia 45 0.026
615
END035 Endocrine Gland Cancer 45 0.026
616
c CLR017 Clear Cell Sarcoma 45 0.026
617
SPS057 Spasticity 45 0.026
618
CNT046 Central Nervous System Vasculitis 44 0.026
619
CHL149 Childhood Acute Myeloid Leukemia 44 0.026
620
PTT037 Pituitary Tumors 44 0.026
621
c PCH010 Pachyonychia Congenita 3 44 0.026
622
c HYP699 Hyperekplexia 1 44 0.026
623
PPL001 Papillary Adenoma 44 0.026
624
P EPN001 Ependymoblastoma 44 0.026
625
c PRM038 Primary Agammaglobulinemia 44 0.026
626
CVD001 Covid-19 44 0.026
627
c BDY006 Body Mass Index Quantitative Trait Locus 8 44 0.026
628
c BDY012 Body Mass Index Quantitative Trait Locus 7 44 0.026
629
c ALK016 Alk-Negative Anaplastic Large Cell Lymphoma 44 0.026
630
ADR052 Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 44 0.026
631
P MYG005 Myoglobinuria 44 0.026
632
SMN007 Seminoma 43 0.026
633
TST015 Testicular Disease 43 0.026
634
BNM001 Bone Marrow Cancer 43 0.026
635
RTC009 Reticulum Cell Sarcoma 43 0.026
636
SPR008 Supratentorial Primitive Neuroectodermal Tumor 43 0.026
637
MXD050 Mixed Phenotype Acute Leukemia 43 0.026
638
HMP009 Haemophilus Influenzae 43 0.026
639
CYT002 Cytokine Deficiency 42 0.026
640
ONC003 Oncogenic Osteomalacia 42 0.026
641
HDG002 Hodgkin's Lymphoma, Lymphocytic-Histiocytic Predominance 42 0.026
642
CHR286 Chronic Neutrophilic Leukemia 42 0.026
643
c BDY007 Body Mass Index Quantitative Trait Locus 1 42 0.026
644
BCK006 Back Pain 42 0.026
645
ATX019 Ataxia with Vitamin E Deficiency 42 0.026
646
OCL011 Ocular Motility Disease 42 0.026
647
HWK001 Hawkinsinuria 42 0.026
648
c PST022 Posterior Uveal Melanoma 42 0.026
649
ANC002 Anca-Associated Vasculitis 41 0.026
650
MSN004 Mesenchymal Cell Neoplasm 41 0.026
651
c MCR130 Microvascular Complications of Diabetes 6 41 0.026
652
c MCR133 Microvascular Complications of Diabetes 4 41 0.026
653
PNL014 Pineal Gland Cancer 41 0.026
654
LRG008 Large Granular Lymphocyte Leukemia 41 0.026
655
RDN001 Reading Disorder 40 0.026
656
P HRD086 Hereditary Hypophosphatemic Rickets 40 0.026
657
P MLG074 Malignant Mesenchymoma 40 0.026
658
HYP003 Hypermethioninemia 40 0.026
659
P ALK015 Alk-Positive Anaplastic Large Cell Lymphoma 40 0.026
660
SPR126 Superior Semicircular Canal Dehiscence 40 0.026
661
LGH004 Light Chain Deposition Disease 40 0.026
662
PNC008 Pancreatic Endocrine Carcinoma 39 0.026
663
RCK002 Rocky Mountain Spotted Fever 39 0.026
664
P BCL005 B Cell Prolymphocytic Leukemia 39 0.026
665
MYL057 Myelopathy, Htlv-1-Associated 39 0.026
666
c HMG029 Hemoglobin Se Disease 39 0.026
667
AMN006 Aminoaciduria 38 0.026
668
OCH001 Ochronosis 38 0.026
669
ALL014 Allergic Encephalomyelitis 38 0.026
670
c PLY105 Polycystic Ovary Syndrome 1 38 0.026
671
c MLG157 Malignant Pheochromocytoma 38 0.026
672
OPT010 Optic Papillitis 38 0.026
673
SPS019 Spastic Paraparesis 38 0.026
674
CMP080 Complement Hyperactivation, Angiopathic Thrombosis, and Protein-Losing Enteropathy 38 0.026
675
ACR005 Acrodermatitis 38 0.026
676
PNC016 Pancreatic Cholera 37 0.026
677
ATM052 Autoimmune Disease 1 37 0.026
678
UNL002 Unilateral Retinoblastoma 37 0.026
679
HYP110 Hyperproinsulinemia 37 0.026
680
c CHR020 Chronic Interstitial Cystitis 37 0.026
681
c WLM011 Wilms Tumor 6 37 0.026
682
CNN004 Connective Tissue Cancer 37 0.026
683
SYS070 Systemic Epstein-Barr Virus-Positive T-Cell Lymphoma of Childhood 36 0.026
684
CMB081 Combined Immunodeficiency, X-Linked 36 0.026
685
CRY036 Cryptogenic Cirrhosis 36 0.026
686
HTL001 Htlv-1 Associated Myelopathy/tropical Spastic Paraparesis 35 0.026
687
OLG006 Oligoastrocytoma 35 0.026
688
FBR002 Fibrosarcoma of Bone 34 0.026
689
PYR009 Pyridoxine Deficiency Anemia 34 0.026
690
c LKM005 Leukemia, T-Cell, Chronic 34 0.026
691
P BRN076 Bronchiectasis with or Without Elevated Sweat Chloride 1 34 0.026
692
NDL020 Nodal Marginal Zone B-Cell Lymphoma 34 0.026
693
ACT114 Acute Myeloblastic Leukemia Without Maturation 33 0.026
694
c PRS136 Prostate Cancer, Hereditary, 6 33 0.026
695
TXC020 Toxic Oil Syndrome 33 0.026
696
LTT002 Letterer-Siwe Disease 33 0.026
697
c BNM018 Bone Mineral Density Quantitative Trait Locus 3 33 0.026
698
c PRS130 Prostate Cancer, Hereditary, 8 32 0.026
699
TQP001 Taqi Polymorphism 32 0.026
700
P KNB001 Knobloch Syndrome 32 0.026
701
c MYS059 Myasthenic Syndrome, Congenital, 4a, Slow-Channel 32 0.026
702
PLY150 Polykaryocytosis Inducer 31 0.026
703
c HYP365 Hyperphenylalaninemia, Bh4-Deficient, D 31 0.026
704
MDS019 Mediastinal Malignant Lymphoma 30 0.026
705
c GLM043 Glioma Susceptibility 9 30 0.026
706
RFR004 Refractory Hematologic Cancer 30 0.026
707
PRL010 Prolactin Producing Pituitary Tumor 30 0.026
708
GRN006 Granulomatous Angiitis 30 0.026
709
CMB044 Combined Oxidative Phosphorylation Deficiency 14 30 0.026
710
ANP008 Anaplastic Oligoastrocytoma 30 0.026
711
LYM048 Lymphoma, Large-Cell, Immunoblastic 29 0.026
712
PPM002 Ppoma 29 0.026
713
DSR074 Disorder of Purine Metabolism 29 0.026
714
BRW002 Brown's Tendon Sheath Syndrome 28 0.026
715
PDG002 Pdgfrb-Associated Chronic Eosinophilic Leukemia 27 0.026
716
CHL079 Children's Interstitial Lung Disease 26 0.026
717
ENT007 Enteropathica 26 0.026
718
PPL061 Papular Epidermal Nevi with Skyline Basal Cell Layers Syndrome 25 0.026
719
c BRN132 Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 23 0.026
720
c ERY064 Erythrocytosis, Familial, 6 23 0.026
721
c GLC079 Glaucoma 1, Open Angle, P 23 0.026
722
HDG004 Hodgkin's Granuloma 23 0.026
723
CHR043 Chronic Inflammatory Demyelinating Polyneuritis 23 0.026
724
HDG006 Hodgkin's Paragranuloma 22 0.026
725
PLS032 Plasmodium Falciparum Blood Infection Level 22 0.026
726
c RNG019 Ring Chromosome 3 22 0.026
727
HML018 Homologous Wasting Disease 22 0.026
728
PLM116 Pulmonary Artery Hypoplasia 20 0.026
729
MLY011 Maleylacetoacetate Isomerase Deficiency 19 0.026
730
P ANT080 Antigen Defined by Monoclonal Antibody Aj9 18 0.026
731
FRS020 Fars2 Deficiency 9 0.026
732
IMM155 Immune Response to Synthetic Polypeptide--Irphegal 5 0.026
Content
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