Search results for Adenine

679 hits were found for Adenine

# Family MCID Name MIFTS Score
1
ADN024 Adenine Phosphoribosyltransferase Deficiency 52 10.504
2
LPD042 Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency 21 5.816
3
DHY008 Dihydroxyadeninuria 19 3.042
4
P KDN018 Kidney Disease 70 0.342
5
c CHR684 Chronic Kidney Disease 66 0.236
6
P HRP006 Herpes Simplex 65 0.234
7
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.178
8
HLX001 Helix Syndrome 47 0.176
9
ANX004 Anoxia 42 0.145
10
NPH091 Nephrolithiasis, Calcium Oxalate 66 0.143
11
VCC001 Vaccinia 49 0.143
12
P ENC004 Encephalitis 61 0.140
13
LSC001 Lesch-Nyhan Syndrome 62 0.129
14
CHC001 Chickenpox 60 0.129
15
c HPT016 Hepatitis B 59 0.129
16
c DLT002 Dilated Cardiomyopathy 79 0.123
17
DPH001 Diphtheria 60 0.116
18
KRT019 Keratitis, Hereditary 67 0.113
19
PRT037 Pertussis 65 0.113
20
P CHR012 Chronic Granulomatous Disease 67 0.110
21
P MYP004 Myopathy 64 0.110
22
GT001 Gout 63 0.106
23
HYP266 Hypoxia 56 0.106
24
P ART106 Arterial Calcification, Generalized, of Infancy, 1 48 0.106
25
P MSC005 Muscular Dystrophy 66 0.103
26
ISC004 Ischemia 60 0.103
27
RNL077 Renal Fibrosis 47 0.103
28
c ATR087 Atrial Standstill 1 74 0.099
29
HMN044 Human Immunodeficiency Virus Type 1 71 0.099
30
P LVR013 Liver Disease 68 0.099
31
HRP009 Herpes Simplex Encephalitis 50 0.099
32
KRN002 Kearns-Sayre Syndrome 63 0.095
33
FTT001 Fatty Liver Disease 61 0.095
34
P AST007 Astrocytoma 50 0.095
35
URM002 Uremia 49 0.091
36
c CHR095 Chronic Progressive External Ophthalmoplegia 46 0.091
37
IMM167 Immune Deficiency Disease 78 0.087
38
P LYM031 Lymphocytic Leukemia 55 0.087
39
P BRS047 Breast Cancer 96 0.082
40
DFC004 Deficiency Anemia 75 0.082
41
P LKM002 Leukemia 66 0.082
42
ACQ007 Acquired Immunodeficiency Syndrome 60 0.082
43
HRP004 Herpes Zoster 60 0.082
44
c ACT071 Acute Kidney Failure 59 0.082
45
BNR002 Bone Resorption Disease 48 0.082
46
SVR004 Severe Combined Immunodeficiency 73 0.078
47
P HYP086 Hypothyroidism 68 0.078
48
P HYP069 Hyperparathyroidism 62 0.078
49
ERY051 Erythroleukemia, Familial 56 0.078
50
HMN014 Human Immunodeficiency Virus Infectious Disease 55 0.078
51
CHL014 Cholera 55 0.078
52
HYP014 Hyperuricemia 51 0.078
53
P LCT001 Lactic Acidosis 51 0.078
54
ATS010 Autosomal Recessive Disease 48 0.078
55
CHR074 Choriocarcinoma 46 0.078
56
INT067 Interstitial Nephritis 46 0.078
57
c ATS025 Autosomal Dominant Progressive External Ophthalmoplegia 40 0.078
58
P OVR042 Ovarian Cancer 89 0.073
59
MSC157 Muscular Dystrophy, Duchenne Type 71 0.073
60
P NRB001 Neuroblastoma 71 0.073
61
LVR012 Liver Cirrhosis 63 0.073
62
P MYC008 Myocarditis 59 0.073
63
AGN016 Aging 56 0.073
64
STM007 Stomatitis 49 0.073
65
P MTC133 Mitochondrial Myopathy 49 0.073
66
HYP025 Hyperphosphatemia 47 0.073
67
TRD008 Triiodothyronine Receptor Auxiliary Protein 34 0.073
68
c CHR688 Chronic Acquired Demyelinating Polyneuropathy 19 0.073
69
P CLR023 Colorectal Cancer 98 0.067
70
P THR014 Thrombocytopenia 68 0.067
71
c VNT034 Ventricular Fibrillation, Paroxysmal Familial, 1 66 0.067
72
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 57 0.067
73
P MTC069 Mitochondrial Disorders 56 0.067
74
47X002 47,xyy 49 0.067
75
ADN001 Adenosine Deaminase Deficiency 47 0.067
76
SNG007 Sengers Syndrome 46 0.067
77
TRT001 Teratocarcinoma 46 0.067
78
CWP001 Cowpox 45 0.067
79
48X005 48,xyyy 39 0.067
80
P LNG032 Lung Cancer 97 0.061
81
c LKM071 Leukemia, Chronic Lymphocytic 79 0.061
82
PLM129 Pulmonary Disease, Chronic Obstructive 73 0.061
83
c HYP836 Hypercholesterolemia, Familial, 1 72 0.061
84
P HNT016 Huntington Disease 71 0.061
85
c MGR028 Migraine with or Without Aura 1 69 0.061
86
P MYC084 Mycobacterium Tuberculosis 1 68 0.061
87
P HPT021 Hepatitis 67 0.061
88
ALL026 Allergic Hypersensitivity Disease 64 0.061
89
TYP007 Typhoid Fever 63 0.061
90
P NTR004 Neutropenia 63 0.061
91
NNL005 Non-Alcoholic Fatty Liver Disease 62 0.061
92
HYP066 Hyperglycemia 61 0.061
93
P BND020 Bone Disease 59 0.061
94
END030 End Stage Renal Failure 58 0.061
95
CMB003 Combined T Cell and B Cell Immunodeficiency 52 0.061
96
IMP005 Impotence 52 0.061
97
c SCN007 Secondary Hyperparathyroidism 50 0.061
98
P SCK005 Sickle Cell Disease 50 0.061
99
BRN071 Brain Injury 49 0.061
100
RTN023 Retinitis 46 0.061
101
ATX038 Ataxia and Polyneuropathy, Adult-Onset 44 0.061
102
NRR001 Neuroretinitis 43 0.061
103
HMP009 Haemophilus Influenzae 42 0.061
104
P PNC035 Pancreatic Cancer 84 0.055
105
P RHM011 Rheumatoid Arthritis 80 0.055
106
c PLM164 Pulmonary Hypertension, Primary, 1 75 0.055
107
P MLT020 Multiple Sclerosis 72 0.055
108
c LKM063 Leukemia, Chronic Myeloid 71 0.055
109
c HPT073 Hepatitis C Virus 70 0.055
110
DWN001 Down Syndrome 70 0.055
111
CNG034 Congestive Heart Failure 70 0.055
112
OST159 Osteogenic Sarcoma 66 0.055
113
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 66 0.055
114
P MCR115 Microvascular Complications of Diabetes 5 66 0.055
115
HYP056 Hypoglycemia 66 0.055
116
P VSC007 Vascular Disease 63 0.055
117
c ACT068 Acute Cystitis 63 0.055
118
P FCS012 Facioscapulohumeral Muscular Dystrophy 1 61 0.055
119
P CTR002 Cataract 60 0.055
120
INS001 Insulinoma 60 0.055
121
P BRS044 Breast Adenocarcinoma 59 0.055
122
P BCL017 B-Cell Lymphoma 58 0.055
123
P INF032 Infertility 57 0.055
124
EMB004 Embryonal Carcinoma 57 0.055
125
P NRP001 Neuropathy 56 0.055
126
PLM010 Pulmonary Edema 55 0.055
127
P SLM003 Salmonellosis 54 0.055
128
P TRM003 Tremor 53 0.055
129
MTC005 Mitochondrial Metabolism Disease 48 0.055
130
SPL018 Splenomegaly 48 0.055
131
RBF001 Riboflavin Deficiency 45 0.055
132
CRB004 Cerebral Artery Occlusion 44 0.055
133
c PRG038 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 40 0.055
134
ALL014 Allergic Encephalomyelitis 39 0.055
135
CHR178 Chromosomal Triplication 35 0.055
136
c DNT047 Dentinogenesis Imperfecta Type 2 33 0.055
137
MTY003 Mutyh Polyposis 29 0.055
138
c MTC138 Mitochondrial Dna Depletion Syndrome 12b , Autosomal Recessive 27 0.055
139
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.048
140
P ALZ034 Alzheimer Disease 88 0.048
141
P ATX030 Ataxia-Telangiectasia 83 0.048
142
CYS001 Cystic Fibrosis 80 0.048
143
P BLD134 Bladder Cancer 78 0.048
144
P HRT032 Heart Disease 75 0.048
145
P SLP006 Sleep Apnea 69 0.048
146
P LKM062 Leukemia, Acute Lymphoblastic 68 0.048
147
P PLM037 Pulmonary Hypertension 68 0.048
148
P MLG056 Malignant Hyperthermia 67 0.048
149
P HYP061 Hypertrophic Cardiomyopathy 66 0.048
150
ALC007 Alcohol Dependence 66 0.048
151
c CNG006 Congenital Hypothyroidism 65 0.048
152
P DBT009 Diabetes Mellitus 64 0.048
153
TTN003 Tetanus 64 0.048
154
CLN015 Colon Adenocarcinoma 63 0.048
155
c PRC016 Pre-Eclampsia 63 0.048
156
P NPH012 Nephrotic Syndrome 63 0.048
157
P END044 Endometriosis 62 0.048
158
P PSR002 Psoriasis 62 0.048
159
TXC005 Toxic Shock Syndrome 61 0.048
160
P PRM006 Primary Biliary Cirrhosis 61 0.048
161
CHR066 Chronic Fatigue Syndrome 61 0.048
162
MSL001 Measles 61 0.048
163
CHL068 Cholestasis 60 0.048
164
SPN186 Spinal Cord Injury 60 0.048
165
P SLP005 Sleep Disorder 59 0.048
166
P SZR006 Seizure Disorder 58 0.048
167
VSL002 Visual Epilepsy 58 0.048
168
CNS004 Constipation 57 0.048
169
LYM027 Lymphopenia 57 0.048
170
IRN002 Iron Metabolism Disease 57 0.048
171
PLG002 Plague 57 0.048
172
APH002 Aphasia 57 0.048
173
P GLM007 Glomerulonephritis 57 0.048
174
P FBR017 Fibrosarcoma 56 0.048
175
c ACT075 Acute Myocardial Infarction 56 0.048
176
P MLN007 Male Infertility 56 0.048
177
P HYP076 Hyperthyroidism 55 0.048
178
GNT003 Genital Herpes 54 0.048
179
GLC003 Glucose Intolerance 54 0.048
180
TRM010 Traumatic Brain Injury 53 0.048
181
PST011 Pustulosis of Palm and Sole 52 0.048
182
LMY002 Leiomyoma 50 0.048
183
MTB004 Metabolic Acidosis 50 0.048
184
CYT005 Cytomegalovirus Retinitis 49 0.048
185
STR089 Storage Pool Platelet Disease 47 0.048
186
P MTH007 Methemoglobinemia 46 0.048
187
c INH020 Inherited Metabolic Disorder 46 0.048
188
P PLL002 Pellagra 45 0.048
189
NWC001 Newcastle Disease 44 0.048
190
GRN017 Granulocytopenia 44 0.048
191
CYT002 Cytokine Deficiency 44 0.048
192
IRT001 Iritis 43 0.048
193
WLL004 Wallerian Degeneration 39 0.048
194
HRW001 Hair Whorl 36 0.048
195
c PLM127 Pulmonary Hypertension, Primary, 3 33 0.048
196
VLK001 Volkmann Contracture 32 0.048
197
PLR005 Pleuropneumonia 32 0.048
198
NNT018 Neonatal Herpes 24 0.048
199
P HPT023 Hepatocellular Carcinoma 100 0.039
200
P PRS040 Prostate Cancer 97 0.039
201
P LNG064 Lung Cancer Susceptibility 3 77 0.039
202
P RTN008 Retinitis Pigmentosa 77 0.039
203
GLB015 Glioblastoma Multiforme 75 0.039
204
P APL001 Aplastic Anemia 74 0.039
205
P RSP003 Respiratory Failure 74 0.039
206
P HYP724 Hyperlipoproteinemia, Type Iii 72 0.039
207
P RTN024 Retinoblastoma 72 0.039
208
P FML011 Familial Adenomatous Polyposis 72 0.039
209
P GRF003 Graft-Versus-Host Disease 71 0.039
210
P PHC003 Pheochromocytoma 71 0.039
211
PRP027 Peripheral Vascular Disease 71 0.039
212
ADL002 Adult Syndrome 69 0.039
213
P CRD119 Cardiac Arrest 67 0.039
214
MLT118 Multiple Acyl-Coa Dehydrogenase Deficiency 67 0.039
215
P ATR011 Atrial Fibrillation 66 0.039
216
P CCK001 Cockayne Syndrome 66 0.039
217
CHD001 Chediak-Higashi Syndrome 66 0.039
218
DBT091 Diabetes Insipidus, Nephrogenic, Autosomal 66 0.039
219
CHG001 Chagas Disease 66 0.039
220
ATH013 Atherosclerosis Susceptibility 66 0.039
221
SRC014 Sarcoma 65 0.039
222
c HMP029 Hemophilia a 65 0.039
223
c SML038 Small Cell Cancer of the Lung 65 0.039
224
P DYS154 Dystonia 65 0.039
225
BRR014 Barrett Esophagus 64 0.039
226
P MCP040 Mucopolysaccharidosis-Plus Syndrome 64 0.039
227
CLR108 Colorectal Adenoma 64 0.039
228
P ABD014 Abdominal Obesity-Metabolic Syndrome 1 64 0.039
229
P ADN016 Adenocarcinoma 64 0.039
230
IDP011 Idiopathic Interstitial Pneumonia 63 0.039
231
P CRN018 Coronary Artery Anomaly 63 0.039
232
P ANR048 Aniridia 1 63 0.039
233
ANR007 Anorexia Nervosa 63 0.039
234
HYD058 Hydrops, Lactic Acidosis, and Sideroblastic Anemia 63 0.039
235
LPD008 Lipid Metabolism Disorder 62 0.039
236
P PRP029 Porphyria 62 0.039
237
P PLM036 Pulmonary Fibrosis 61 0.039
238
CRC021 Carcinosarcoma 61 0.039
239
DRM006 Dermatitis 61 0.039
240
P ENC018 Encephalopathy 61 0.039
241
ATM095 Autoimmune Disease 61 0.039
242
ACN002 Acanthosis Nigricans 60 0.039
243
THY029 Thyroid Carcinoma 59 0.039
244
HYD002 Hydronephrosis 59 0.039
245
P TRC086 Trichohepatoenteric Syndrome 1 59 0.039
246
CHL123 Chlamydia 59 0.039
247
MTC146 Mitochondrial Complex I Deficiency, Nuclear Type 1 59 0.039
248
ADN018 Adenoma 58 0.039
249
c ACT073 Acute Leukemia 58 0.039
250
RBS001 Rabies 58 0.039
251
LYM021 Lymphadenitis 58 0.039
252
URN010 Urinary Tract Obstruction 57 0.039
253
BRN056 Bronchopulmonary Dysplasia 57 0.039
254
OPT066 Optic Atrophy with or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy 57 0.039
255
P PRP019 Peripheral Nervous System Disease 57 0.039
256
P PYL005 Pyelonephritis 56 0.039
257
SCH014 Schistosomiasis 56 0.039
258
CYT008 Cytomegalovirus Infection 56 0.039
259
SML019 Smallpox 56 0.039
260
RHM027 Rheumatic Disease 56 0.039
261
P INF037 Inflammatory Bowel Disease 56 0.039
262
BRN004 Brain Edema 55 0.039
263
ATR057 Atrioventricular Block 55 0.039
264
P DBT005 Diabetes Insipidus 55 0.039
265
FCT001 Factor Viii Deficiency 55 0.039
266
HYP060 Hyperinsulinism 54 0.039
267
PNC001 Pancytopenia 54 0.039
268
RHM028 Rheumatic Heart Disease 53 0.039
269
HMC014 Homocysteinemia 53 0.039
270
KRT006 Keratoconjunctivitis 53 0.039
271
c FML008 Familial Retinoblastoma 53 0.039
272
ART140 Arteries, Anomalies of 53 0.039
273
PRN001 Purine Nucleoside Phosphorylase Deficiency 53 0.039
274
THR013 Thoracic Outlet Syndrome 53 0.039
275
c MCR113 Microvascular Complications of Diabetes 3 52 0.039
276
PLY118 Polyglucosan Body Myopathy 1 with or Without Immunodeficiency 52 0.039
277
GTR002 Goiter 52 0.039
278
P INS002 in Situ Carcinoma 52 0.039
280
P HMP007 Hemophilia 51 0.039
281
TLN003 Telangiectasis 51 0.039
282
SPP010 Suppressor of Tumorigenicity 3 51 0.039
283
PNG002 Pain Agnosia 51 0.039
284
ALP041 Alopecia, Neurologic Defects, and Endocrinopathy Syndrome 51 0.039
285
NNL006 Non-Alcoholic Steatohepatitis 51 0.039
286
P MMB011 Membranous Nephropathy 50 0.039
287
P CHR345 Chronic Pain 50 0.039
288
P ART153 Arthrochalasia Ehlers-Danlos Syndrome 50 0.039
289
TLR001 Tularemia 49 0.039
290
c VRL005 Viral Pneumonia 49 0.039
291
c MCP047 Mucopolysaccharidosis, Type Iva 49 0.039
292
P SDR003 Sideroblastic Anemia 49 0.039
293
ENT004 Enthesopathy 48 0.039
294
SLP001 Sleeping Sickness 48 0.039
295
CRD137 Cardiogenic Shock 48 0.039
296
RTN020 Retinal Vascular Disease 48 0.039
297
c MCR120 Microvascular Complications of Diabetes 7 47 0.039
298
ALB002 Albinism 46 0.039
299
ADR040 Adrenal Gland Pheochromocytoma 46 0.039
300
P CRN025 Corneal Dystrophy 45 0.039
301
HRT015 Heritable Pulmonary Arterial Hypertension 44 0.039
302
c RTN047 Retinitis Pigmentosa 18 44 0.039
303
URT014 Ureterolithiasis 42 0.039
304
PST053 Postherpetic Neuralgia 42 0.039
305
P XNT004 Xanthinuria 41 0.039
306
c MCR130 Microvascular Complications of Diabetes 6 41 0.039
307
c MCR133 Microvascular Complications of Diabetes 4 41 0.039
308
THR035 Thrombasthenia 41 0.039
309
PLY100 Polyploidy 40 0.039
310
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 39 0.039
311
P MRQ003 Morquio Syndrome 38 0.039
312
AMN006 Aminoaciduria 38 0.039
313
OVR094 Ovarian Epithelial Cancer 38 0.039
314
ATX010 Ataxia Neuropathy Spectrum 38 0.039
315
ACY011 Acyl-Coa Dehydrogenase Deficiency 37 0.039
316
KDN013 Kidney Hypertrophy 34 0.039
317
ACT064 Acute Necrotizing Encephalitis 32 0.039
318
c HRD142 Hereditary Xanthinuria 32 0.039
319
MTR087 Maternal Uniparental Disomy 30 0.039
320
DSR074 Disorder of Purine Metabolism 29 0.039
321
OBS507 Obsolete: Small Pox 22 0.039
322
HML018 Homologous Wasting Disease 22 0.039
323
BLD137 Blood Group--Ahonen 19 0.039
324
c MTR067 Maternal Uniparental Disomy of Chromosome 16 16 0.039
325
CHR207 Chromosome 16q Duplication 14 0.039
326
c PRC032 Preeclampsia/eclampsia 2 12 0.039
327
DST075 Distal Trisomy 16q 6 0.039
328
c HYP595 Hypertension, Essential 84 0.027
329
P GST053 Gastric Cancer 83 0.027
330
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 81 0.027
331
c FNC027 Fanconi Anemia, Complementation Group a 81 0.027
332
MLR004 Malaria 80 0.027
333
OST012 Osteoarthritis 78 0.027
334
P MDL005 Medulloblastoma 77 0.027
335
AST005 Asthma 77 0.027
336
CRV035 Cervical Cancer 76 0.027
337
KPS004 Kaposi Sarcoma 75 0.027
338
P SCH015 Schizophrenia 75 0.027
339
c HMC039 Hemochromatosis, Type 1 74 0.027
340
XRD010 Xeroderma Pigmentosum, Variant Type 73 0.027
341
c SPN225 Spondyloarthropathy 1 73 0.027
342
c THR092 Thrombophilia Due to Thrombin Defect 73 0.027
343
c BTT014 Beta-Thalassemia 72 0.027
344
P EPL164 Epilepsy 71 0.027
345
LPD012 Lipoid Congenital Adrenal Hyperplasia 71 0.027
346
P WSK001 Wiskott-Aldrich Syndrome 71 0.027
347
ACR007 Acromegaly 71 0.027
348
P MYC007 Myocardial Infarction 70 0.027
349
P ART022 Arthritis 70 0.027
350
LGH007 Leigh Syndrome 70 0.027
351
P SYS005 Systemic Scleroderma 70 0.027
352
P TTR001 Tetralogy of Fallot 69 0.027
353
PLY001 Polycythemia Vera 69 0.027
354
MLN008 Melanoma 69 0.027
355
ART016 Aortic Aneurysm 68 0.027
356
P LYM118 Lymphoma 68 0.027
357
P ALP004 Alport Syndrome 68 0.027
358
BRN024 Bronchitis 68 0.027
359
c NMN015 Niemann-Pick Disease, Type C1 68 0.027
360
P INF038 Influenza 68 0.027
361
P PNM007 Pneumonia 68 0.027
362
P ESS003 Essential Thrombocythemia 67 0.027
363
PNC129 Pancreatic Adenocarcinoma 67 0.027
364
MYL005 Myelofibrosis 67 0.027
365
c PRG042 Progressive Familial Heart Block, Type Ia 67 0.027
366
ALL003 Allergic Rhinitis 67 0.027
367
ABT001 Abetalipoproteinemia 67 0.027
368
P ANG001 Angelman Syndrome 67 0.027
369
P SKN015 Skin Carcinoma 67 0.027
370
GLN010 Glanzmann Thrombasthenia 66 0.027
371
AND002 Androgen Insensitivity Syndrome 66 0.027
372
P ASP006 Aspergillosis 66 0.027
373
ART001 Arterial Tortuosity Syndrome 66 0.027
374
LWC002 Lowe Oculocerebrorenal Syndrome 66 0.027
375
P HYP098 Hypereosinophilic Syndrome 66 0.027
376
P NRV007 Nervous System Disease 66 0.027
377
P HRM001 Hermansky-Pudlak Syndrome 65 0.027
378
P AGM001 Agammaglobulinemia 65 0.027
379
P ACR001 Aicardi-Goutieres Syndrome 65 0.027
380
P 3MT016 3-Methylglutaconic Aciduria, Type Iii 65 0.027
381
P MNN013 Meningitis 65 0.027
382
AND019 Andersen Cardiodysrhythmic Periodic Paralysis 65 0.027
383
PRT036 Peritonitis 65 0.027
384
P THY023 Thymoma 65 0.027
385
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 65 0.027
386
DBT083 Diabetes Mellitus, Permanent Neonatal 64 0.027
387
c HYP604 Hyperinsulinemic Hypoglycemia, Familial, 2 64 0.027
388
P VNW001 Von Willebrand's Disease 64 0.027
389
P CHR071 Charcot-Marie-Tooth Disease 64 0.027
390
LYM017 Lyme Disease 63 0.027
391
LSH001 Leishmaniasis 63 0.027
392
NRM005 Neuromuscular Disease 63 0.027
393
P GLM045 Glioma 63 0.027
394
P CRN300 Coronary Heart Disease 1 63 0.027
395
ART002 Arts Syndrome 63 0.027
396
c HPT001 Hepatitis C 63 0.027
397
SKN016 Skin Disease 63 0.027
398
P FRD001 Friedreich Ataxia 63 0.027
399
c SCL052 Scleroderma, Familial Progressive 62 0.027
400
P PRM002 Primary Hyperoxaluria 62 0.027
401
CYS013 Cystinuria 62 0.027
402
INT323 Intraocular Pressure Quantitative Trait Locus 62 0.027
404
c ALP101 Alpha-Thalassemia 62 0.027
405
c GLC092 Glaucoma, Primary Open Angle 62 0.027
406
P ESP024 Esophagitis 62 0.027
407
c ATM011 Autoimmune Hepatitis 62 0.027
408
P BLD124 Bleeding Disorder, Platelet-Type, 11 61 0.027
409
3HY005 3-Hydroxyacyl-Coa Dehydrogenase Deficiency 61 0.027
410
P DRM010 Dermatomyositis 61 0.027
411
NTR005 Nutritional Deficiency Disease 61 0.027
412
MTC114 Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 61 0.027
413
c BRN108 Branchiootic Syndrome 1 61 0.027
414
c PNS012 Paine Syndrome 61 0.027
415
LNG099 Lung Disease 61 0.027
416
P DNT020 Dent Disease 1 60 0.027
417
CRD223 Cardiac Arrhythmia 60 0.027
418
MCR013 Microphthalmia 60 0.027
419
P MYL006 Myeloid Leukemia 60 0.027
420
RGH009 Right Atrial Isomerism 60 0.027
421
SQM006 Squamous Cell Carcinoma 60 0.027
422
P NMN002 Niemann-Pick Disease 60 0.027
423
P HRD011 Hereditary Spherocytosis 60 0.027
424
P SCL018 Scoliosis 60 0.027
425
P PRX003 Paroxysmal Nocturnal Hemoglobinuria 60 0.027
426
P THL005 Thalassemia 60 0.027
427
c ART138 Aortic Aneurysm, Familial Abdominal, 1 60 0.027
428
P GLY013 Glycogen Storage Disease 59 0.027
429
STT001 Status Epilepticus 59 0.027
430
ANT009 Antithrombin Iii Deficiency 59 0.027
431
GNG013 Gingivitis 59 0.027
432
PRT058 Pure Autonomic Failure 59 0.027
433
P SYP003 Syphilis 59 0.027
434
c HYD046 Hydatidiform Mole, Recurrent, 1 59 0.027
435
ANT024 Anthrax Disease 58 0.027
436
PPT005 Peptic Ulcer Disease 58 0.027
437
CRZ002 Crouzon Syndrome with Acanthosis Nigricans 58 0.027
438
c PRG043 Progressive Familial Heart Block, Type Ib 58 0.027
439
P AXN002 Axenfeld-Rieger Syndrome 58 0.027
440
c MCP004 Mucopolysaccharidosis Iv 58 0.027
441
c PTT056 Pituitary Adenoma 1, Multiple Types 58 0.027
442
APP015 Apparent Mineralocorticoid Excess 58 0.027
443
P PLY006 Polydactyly 58 0.027
444
CNT047 Contact Dermatitis 57 0.027
445
P OPT006 Optic Nerve Disease 57 0.027
446
SJG002 Sjogren-Larsson Syndrome 57 0.027
447
DSS009 Disseminated Intravascular Coagulation 57 0.027
448
P RHN004 Rhinitis 57 0.027
449
BLR008 Bilirubin Metabolic Disorder 57 0.027
450
P EXN002 Exanthem 57 0.027
451
c MST023 Mesothelioma, Malignant 57 0.027
452
P SHR029 Short Syndrome 57 0.027
453
PLM031 Poliomyelitis 57 0.027
454
P DRR001 Diarrhea 57 0.027
455
VSC002 Vascular Dementia 57 0.027
456
VRG001 Variegate Porphyria 56 0.027
457
GRN051 Granulomatous Disease, Chronic, X-Linked 56 0.027
458
P FTL069 Fetal Akinesia Deformation Sequence 1 56 0.027
459
SFT003 Soft Tissue Sarcoma 56 0.027
460
LMY014 Leiomyoma, Uterine 56 0.027
461
FRC011 Fructose Intolerance, Hereditary 56 0.027
462
ISV001 Isovaleric Acidemia 56 0.027
463
P GST044 Gastritis 55 0.027
464
PRP030 Purpura 55 0.027
465
c SVR001 Severe Acute Respiratory Syndrome 55 0.027
466
MCS002 Mucositis 55 0.027
467
P GRV001 Graves' Disease 55 0.027
468
P PLY018 Polycythemia 55 0.027
469
c BCT007 Bacterial Meningitis 55 0.027
470
P ALP106 Alport Syndrome 1, X-Linked 55 0.027
471
P SCK002 Sick Sinus Syndrome 55 0.027
472
c SCN036 Secondary Progressive Multiple Sclerosis 55 0.027
473
RLP002 Relapsing-Remitting Multiple Sclerosis 55 0.027
474
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.027
475
RTC002 Reticular Dysgenesis 55 0.027
476
HRY003 Hairy Cell Leukemia 55 0.027
477
ORL004 Oral Submucous Fibrosis 55 0.027
478
ENC067 Encephalopathy, Progressive, Early-Onset, with Episodic Rhabdomyolysis 55 0.027
479
c GLY011 Glycogen Storage Disease Vii 55 0.027
480
PPL022 Papilloma 54 0.027
481
c OPT053 Optic Atrophy 1 54 0.027
482
P ART021 Arteriosclerosis 54 0.027
483
LST001 Listeriosis 54 0.027
484
HMS001 Hemosiderosis 54 0.027
485
P HYP050 Hyperinsulinemic Hypoglycemia 54 0.027
486
ORT008 Orotic Aciduria 54 0.027
487
PRT082 Preterm Premature Rupture of the Membranes 54 0.027
488
c THY107 Thymoma, Familial 54 0.027
489
c CNT035 Central Nervous System Disease 54 0.027
490
P MNC007 Monocytic Leukemia 54 0.027
491
TRC008 Trachoma 53 0.027
492
HYP276 Hypercarotenemia and Vitamin a Deficiency, Autosomal Dominant 53 0.027
493
P LTR001 Lateral Sclerosis 53 0.027
494
SNS003 Sensory Peripheral Neuropathy 53 0.027
495
OCL006 Ocular Hypertension 53 0.027
496
HRT012 Heart Valve Disease 53 0.027
497
MST005 Mastitis 53 0.027
498
HMT008 Hematuria, Benign Familial 53 0.027
499
HYP063 Hypersplenism 53 0.027
500
P THY032 Thyroiditis 53 0.027
501
PRG009 Progressive Multifocal Leukoencephalopathy 53 0.027
502
ACY005 Acyl-Coa Dehydrogenase, Short-Chain, Deficiency of 52 0.027
503
SBC001 Subacute Sclerosing Panencephalitis 52 0.027
504
ACR041 Acromelic Frontonasal Dysostosis 52 0.027
505
P PTS002 Ptosis 52 0.027
506
P END047 Endophthalmitis 52 0.027
507
OST011 Osteomalacia 52 0.027
508
PRN011 Pernicious Anemia 52 0.027
509
TCK001 Tick-Borne Encephalitis 52 0.027
510
P MSC003 Muscular Atrophy 52 0.027
511
TRC003 Trichomoniasis 52 0.027
512
NPH003 Nephrocalcinosis 51 0.027
513
RYS001 Reye Syndrome 51 0.027
514
c ACR116 Aicardi-Goutieres Syndrome 1 51 0.027
515
c ACT135 Acute Graft Versus Host Disease 51 0.027
516
OCL069 Ocular Motor Apraxia 51 0.027
517
c VRL010 Viral Hepatitis 51 0.027
518
MSC190 Muscular Disease 51 0.027
519
THR016 Thrombophlebitis 51 0.027
520
c VRL007 Viral Encephalitis 51 0.027
521
VTR016 Vater/vacterl Association 51 0.027
522
THR004 Thrombocytosis 51 0.027
523
ADR042 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 51 0.027
524
ASP003 Aseptic Meningitis 51 0.027
525
c PRM108 Primary Progressive Multiple Sclerosis 51 0.027
526
SPN035 Spindle Cell Sarcoma 51 0.027
527
ENT011 Enterocolitis 50 0.027
528
P SMP003 Simpson-Golabi-Behmel Syndrome 50 0.027
529
NPH018 Nephrogenic Systemic Fibrosis 50 0.027
530
RLP003 Relapsing Fever 50 0.027
531
TCL023 T-Cell Lymphoma, Subcutaneous Panniculitis-Like 50 0.027
532
c XNT010 Xanthinuria, Type I 50 0.027
533
TRY001 Trypanosomiasis 50 0.027
534
HYP080 Hypogonadism 50 0.027
535
CRV040 Cervix Carcinoma 50 0.027
536
DRR003 Diarrhea 5, with Tufting Enteropathy, Congenital 50 0.027
537
c MTC055 Mitochondrial Dna Depletion Syndrome 4b 50 0.027
538
HYP017 Hypophosphatemia 49 0.027
539
PLC008 Placenta Disease 49 0.027
540
P OPN001 Open-Angle Glaucoma 49 0.027
541
HMG002 Hemoglobinuria 49 0.027
542
KRT002 Keratomalacia 48 0.027
543
BLD044 Bladder Disease 48 0.027
544
PLP001 Pulpitis 48 0.027
545
RFR010 Refractory Anemia 48 0.027
546
ASP007 Aspiration Pneumonia 48 0.027
547
SXL003 Sexual Disorder 48 0.027
548
ATX019 Ataxia with Vitamin E Deficiency 48 0.027
549
ART004 Aortic Atherosclerosis 48 0.027
550
IRR003 Irritant Dermatitis 47 0.027
551
SCH038 Schopf-Schulz-Passarge Syndrome 47 0.027
552
PRL017 Prolymphocytic Leukemia 47 0.027
553
RGH001 Right Bundle Branch Block 47 0.027
554
c MTR002 Mitral Valve Insufficiency 47 0.027
555
P TCL004 T-Cell Leukemia 47 0.027
556
P CRC039 Coarctation of Aorta 47 0.027
557
RYN005 Raynaud Phenomenon 46 0.027
558
SVR095 Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency 46 0.027
559
c ACT076 Acute Myocarditis 46 0.027
560
c GRN049 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 46 0.027
561
MYC005 Myocardial Stunning 46 0.027
562
KRT008 Keratopathy 46 0.027
563
GST010 Gestational Trophoblastic Neoplasm 46 0.027
564
EBL001 Ebola Hemorrhagic Fever 46 0.027
565
LMB050 Limbal Stem Cell Deficiency 45 0.027
566
GLL048 Glial Tumor 45 0.027
567
CYN002 Cyanosis, Transient Neonatal 45 0.027
568
RTR008 Root Resorption 45 0.027
569
SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 45 0.027
570
P BNG032 Benign Mesothelioma 45 0.027
571
MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 45 0.027
572
ACT003 Acute Kidney Tubular Necrosis 45 0.027
573
MTS001 Mutism 45 0.027
574
GRD001 Giardiasis 45 0.027
575
PTT037 Pituitary Tumors 44 0.027
576
c HYP793 Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 44 0.027
577
ECZ002 Eczema Herpeticum 44 0.027
578
CRB025 Carbohydrate Metabolic Disorder 44 0.027
579
HYP003 Hypermethioninemia 44 0.027
580
DST006 Diastolic Heart Failure 44 0.027
581
VCT001 Vacterl Association 44 0.027
582
CHL152 Childhood Acute Lymphocytic Leukemia 43 0.027
583
LNG020 Lung Oat Cell Carcinoma 43 0.027
584
OVR063 Overnutrition 43 0.027
585
VRL003 Variola Major 43 0.027
586
c HYP272 Hypercholesterolemia, Familial, 3 43 0.027
587
ORL015 Oral Squamous Cell Carcinoma 43 0.027
588
PRS063 Paresthesia 43 0.027
589
PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 42 0.027
590
ALC010 Alcoholic Cardiomyopathy 42 0.027
591
c TRN032 Transient Neonatal Diabetes Mellitus 42 0.027
592
BCK006 Back Pain 42 0.027
593
MYF001 Myofibroma 42 0.027
594
P HYP265 Hypotonia 42 0.027
595
c GRN050 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 42 0.027
596
P KLZ004 Kala-Azar 1 41 0.027
597
FSC002 Fascioliasis 41 0.027
598
P RRH023 Rare Hereditary Hemochromatosis 41 0.027
599
FRS012 First-Degree Atrioventricular Block 41 0.027
600
P STN012 Sting-Associated Vasculopathy, Infantile-Onset 41 0.027
601
AMN002 Amino Acid Metabolic Disorder 40 0.027
602
c EPS039 Episodic Pain Syndrome, Familial, 1 40 0.027
603
HYP064 Hypogonadotropism 40 0.027
604
NPH078 Nephrolithiasis, Uric Acid 40 0.027
605
END011 Endometriosis of Ovary 40 0.027
606
CHL045 Choline Deficiency Disease 39 0.027
607
GLM044 Glomerular Disease 39 0.027
608
HYP784 Hypogonadism, Male 39 0.027
609
ADP007 Adie Pupil 39 0.027
610
c ERL056 Early-Onset Parkinson's Disease 39 0.027
611
P OGC005 Oguchi Disease 38 0.027
612
KLL014 Kelley-Seegmiller Syndrome 38 0.027
613
SCR011 Scrapie 38 0.027
614
c PRG020 Paragangliomas 3 38 0.027
615
HPT082 Hepatic Adenomas, Familial 37 0.027
616
c OGC001 Oguchi Disease 1 37 0.027
617
SPN331 Spondyloocular Syndrome 37 0.027
618
P AXN001 Axonal Neuropathy 36 0.027
619
c CNG223 Congenital Methemoglobinemia 36 0.027
620
c FNC059 Fanconi-Like Syndrome 36 0.027
621
ARB001 Ariboflavinosis 36 0.027
622
MTH026 Methemoglobinemia Due to Deficiency of Methemoglobin Reductase 36 0.027
623
MYT011 Myotonia 35 0.027
624
AKN002 Akinetic Mutism 35 0.027
625
c CHR660 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a 35 0.027
626
c ATM022 Autoimmune Myocarditis 35 0.027
627
NND010 Nondisjunction 34 0.027
628
BWN003 Bowenoid Papulosis 34 0.027
629
ALR002 Al-Raqad Syndrome 34 0.027
630
ART010 Arteriolosclerosis 34 0.027
631
TRG019 Trigonocephaly with Short Stature and Developmental Delay 34 0.027
632
MTC023 Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 33 0.027
633
TRC020 Tracheitis 33 0.027
634
HND015 Hand Skill, Relative 33 0.027
635
TQP001 Taqi Polymorphism 32 0.027
636
VCT005 Vacterl Association, X-Linked, with or Without Hydrocephalus 32 0.027
637
MYP035 Myopathy, Distal, with Anterior Tibial Onset 32 0.027
638
NRD001 Neurodermatitis 32 0.027
639
MNG003 Mungan Syndrome 32 0.027
640
PRX097 Paroxysmal Dystonia 31 0.027
641
P SKN067 Skin/hair/eye Pigmentation, Variation in, 2 31 0.027
642
c BLD140 Blood Group, I System 30 0.027
643
MNG007 Manganese Poisoning 29 0.027
644
MYC088 Mycobacterium Avium Complex Infections 29 0.027
645
HNM002 Hinman Syndrome 29 0.027
646
P SKL032 Skeletal Muscle Disease 29 0.027
647
HYP346 Hypotrichosis and Recurrent Skin Vesicles 29 0.027
648
PST092 Posttransplant Acute Limbic Encephalitis 29 0.027
649
c STN011 Sting-Associated Vasculopathy with Onset in Infancy 28 0.027
650
c PLM121 Pulmonary Hypertension, Primary, 4 28 0.027
651
MSN003 Mesenteric Vascular Occlusion 27 0.027
652
URT011 Urethral Calculus 27 0.027
653
DMN026 Dementia Pugilistica 27 0.027
654
PYR035 Pyrimidine Metabolic Disorder 27 0.027
655
BLD163 Blood Group, Dombrock System 26 0.027
656
MTH071 Methane Production 26 0.027
657
PRN024 Purine-Pyrimidine Metabolic Disorder 24 0.027
658
TXC004 Toxic Diffuse Goiter 24 0.027
659
GNT018 Gianotti Crosti Syndrome 24 0.027
660
HYP690 Hyper-Beta-Alaninemia 24 0.027
661
MSC193 Muscular Lipidosis 23 0.027
662
P VRT014 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 22 0.027
663
c DBT044 Diabetes Mellitus, Transient Neonatal, 3 22 0.027
664
AND005 Androgen Insensitivity Syndrome, Mild 22 0.027
665
c RNG019 Ring Chromosome 3 21 0.027
666
CMB039 Combined Pulmonary Fibrosis-Emphysema Syndrome 20 0.027
667
FRG013 Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) 20 0.027
668
MXD027 Mixed Type Thymoma 19 0.027
669
c VRT015 Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 19 0.027
670
c DBT077 Diabetes Mellitus, Insulin-Dependent, 19 19 0.027
671
P MTC195 Mitochondrial Oxidative Phosphorylation Disorder 19 0.027
672
OBN001 Ouabain Resistance 18 0.027
673
IMM169 Immunoerythromyeloid Hypoplasia 18 0.027
674
OBS524 Obsolete: Benign Exophthalmos Syndrome 15 0.027
675
PST054 Postinfectious Encephalomyelitis 15 0.027
676
HML010 Hemolytic Anemia Due to Glutathione Reductase Deficiency 15 0.027
677
DST103 Distal Muscular Dystrophy with Anterior Tibial Onset 14 0.027
678
HYP779 Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 8 0.027
679
CRD022 Cardiomyopathy and Deafness Due to Trna Lysine Gene Mutation 5 0.027
Content
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