Search results for UDP

330 hits were found for UDP

# Family MCID Name MIFTS Score
1
GLC011 Galactose Epimerase Deficiency 48 6.168
2
P CRG003 Crigler-Najjar Syndrome, Type I 61 2.905
3
GLC006 Galactosemia 65 2.794
4
GNR029 Generalized Galactose Epimerase Deficiency 12 2.420
5
ERY041 Erythrocyte Galactose Epimerase Deficiency 9 2.420
6
BLR008 Bilirubin Metabolic Disorder 57 0.337
7
GLB001 Gilbert Syndrome 57 0.315
8
P MYP004 Myopathy 64 0.183
9
c CRG004 Crigler-Najjar Syndrome, Type Ii 47 0.175
10
P CLR023 Colorectal Cancer 98 0.159
11
P LVR013 Liver Disease 68 0.154
12
P BRS047 Breast Cancer 96 0.150
13
P NTR004 Neutropenia 63 0.140
14
NNT012 Neonatal Jaundice 53 0.140
15
HMP009 Haemophilus Influenzae 42 0.140
16
CHL068 Cholestasis 60 0.135
17
P PRS040 Prostate Cancer 97 0.130
18
HLX001 Helix Syndrome 47 0.130
19
GLC004 Galactokinase Deficiency 51 0.124
20
SLR001 Sialuria 50 0.124
21
P HPT023 Hepatocellular Carcinoma 100 0.118
23
ATS010 Autosomal Recessive Disease 48 0.112
24
NNK001 Nonaka Myopathy 45 0.112
25
P LNG032 Lung Cancer 97 0.106
26
P PNC035 Pancreatic Cancer 84 0.106
27
PRT037 Pertussis 65 0.106
28
LSH001 Leishmaniasis 63 0.106
29
P AST007 Astrocytoma 50 0.106
30
P KLZ004 Kala-Azar 1 41 0.106
31
CHG001 Chagas Disease 66 0.099
32
P ADN016 Adenocarcinoma 64 0.099
33
CHL123 Chlamydia 59 0.099
34
P MCL001 Mucolipidosis 47 0.099
35
BLR030 Bilirubin, Serum Level of, Quantitative Trait Locus 1 33 0.099
36
CNG486 Congenital Disorders of N-Linked Glycosylation and Multiple Pathway 31 0.099
37
HYP766 Hyperbilirubinemia, Transient Familial Neonatal 28 0.099
38
IRN007 Irinotecan Toxicity 25 0.099
39
P BLD134 Bladder Cancer 78 0.092
40
c CNG411 Congenital Disorder of Glycosylation, Type in 68 0.092
41
LVR012 Liver Cirrhosis 63 0.092
42
P MYS079 Miyoshi Muscular Dystrophy 53 0.092
43
VSC003 Visceral Leishmaniasis 55 0.084
44
STM007 Stomatitis 49 0.084
45
47X002 47,xyy 49 0.084
46
MYP120 Myopathy, Distal, with Rimmed Vacuoles 29 0.084
47
P LNG064 Lung Cancer Susceptibility 3 77 0.075
48
GLB015 Glioblastoma Multiforme 75 0.075
49
c BTT014 Beta-Thalassemia 72 0.075
50
P NRB001 Neuroblastoma 71 0.075
51
c HPT001 Hepatitis C 63 0.075
52
c ATM011 Autoimmune Hepatitis 62 0.075
53
FTT001 Fatty Liver Disease 61 0.075
54
P THL005 Thalassemia 60 0.075
55
P RNL017 Renal Oncocytoma 53 0.075
56
GLC009 Glucosephosphate Dehydrogenase Deficiency 52 0.075
57
CHL004 Cholelithiasis 49 0.075
58
c HPT015 Hepatitis D 49 0.075
59
SLP001 Sleeping Sickness 48 0.075
60
P KRN004 Kernicterus 47 0.075
61
c MCL016 Mucolipidosis Iii Gamma 43 0.075
62
P HYP265 Hypotonia 42 0.075
63
48X005 48,xyyy 39 0.075
64
RPD005 Rapidly Involuting Congenital Hemangioma 38 0.075
65
c ATM111 Autoimmune Hepatitis Type 2 30 0.075
66
P GST053 Gastric Cancer 83 0.065
67
OST012 Osteoarthritis 78 0.065
68
c LKM063 Leukemia, Chronic Myeloid 71 0.065
69
c PNC108 Pancreatitis, Hereditary 69 0.065
70
P HPT021 Hepatitis 67 0.065
71
P MSC005 Muscular Dystrophy 66 0.065
72
NRM005 Neuromuscular Disease 63 0.065
73
P ART023 Arthropathy 62 0.065
74
P PNC044 Pancreatitis 61 0.065
75
ADN018 Adenoma 58 0.065
76
P DRR001 Diarrhea 57 0.065
77
CHR177 Chromophobe Renal Cell Carcinoma 56 0.065
78
c MCL046 Mucolipidosis Iii Alpha/beta 55 0.065
79
P HYP076 Hyperthyroidism 55 0.065
80
FLR002 Filariasis 55 0.065
81
c GLL024 Gallbladder Disease 1 52 0.065
82
PRV004 Periventricular Leukomalacia 51 0.065
83
c ACT134 Acute Liver Failure 51 0.065
84
FLR001 Filarial Elephantiasis 50 0.065
85
VCC001 Vaccinia 49 0.065
86
c HMG003 Hemoglobin E Disease 43 0.065
87
DRG002 Drug-Induced Hepatitis 42 0.065
88
c PRG020 Paragangliomas 3 38 0.065
89
PST092 Posttransplant Acute Limbic Encephalitis 29 0.065
90
CLS031 Classic Galactosemia and Clinical Variant Galactosemia 17 0.065
91
P OVR042 Ovarian Cancer 89 0.053
92
P ALZ034 Alzheimer Disease 88 0.053
93
BRN028 Brain Cancer 73 0.053
94
SVR004 Severe Combined Immunodeficiency 73 0.053
95
SCK003 Sickle Cell Anemia 72 0.053
96
P PHC003 Pheochromocytoma 71 0.053
97
P WSK001 Wiskott-Aldrich Syndrome 71 0.053
98
CNG034 Congestive Heart Failure 70 0.053
99
MLN008 Melanoma 69 0.053
100
P HYP086 Hypothyroidism 68 0.053
101
PNC129 Pancreatic Adenocarcinoma 67 0.053
102
P OLG002 Oligodendroglioma 67 0.053
103
ALL003 Allergic Rhinitis 67 0.053
104
P NSP012 Nasopharyngeal Carcinoma 67 0.053
105
ALP042 Alpha/beta T-Cell Lymphopenia with Gamma/delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity 66 0.053
107
CLN015 Colon Adenocarcinoma 63 0.053
108
P GLM045 Glioma 63 0.053
109
WLL001 Williams-Beuren Syndrome 62 0.053
110
CTN007 Cutaneous Leishmaniasis 61 0.053
111
P ENC018 Encephalopathy 61 0.053
112
P CTR002 Cataract 60 0.053
113
P HRD011 Hereditary Spherocytosis 60 0.053
114
c MSC047 Muscular Dystrophy-Dystroglycanopathy , Type a, 1 59 0.053
115
P LKD001 Leukodystrophy 59 0.053
116
P PLY014 Polycystic Kidney Disease 59 0.053
117
c HPT016 Hepatitis B 59 0.053
118
ANT024 Anthrax Disease 58 0.053
119
P ALC033 Alcohol Use Disorder 58 0.053
120
P BCL017 B-Cell Lymphoma 58 0.053
121
P RHN004 Rhinitis 57 0.053
122
PLG002 Plague 57 0.053
123
P CHN012 Chondrosarcoma 56 0.053
124
P LYM031 Lymphocytic Leukemia 55 0.053
125
HMS001 Hemosiderosis 54 0.053
126
CMB003 Combined T Cell and B Cell Immunodeficiency 52 0.053
127
PRS045 Prostatic Hypertrophy 52 0.053
128
c VRL010 Viral Hepatitis 51 0.053
129
PRS021 Prostatic Adenoma 51 0.053
130
LGN006 Legionnaire Disease 50 0.053
131
c PNC106 Pancreatic Agenesis 1 50 0.053
132
DYS015 Dysentery 50 0.053
133
PRS129 Prostatic Hyperplasia, Benign 49 0.053
134
MSC077 Muscle Eye Brain Disease 47 0.053
135
CHR074 Choriocarcinoma 46 0.053
136
PNC034 Pancreas Disease 46 0.053
137
c CNG389 Congenital Disorder of Glycosylation, Type Iim 46 0.053
138
ADR040 Adrenal Gland Pheochromocytoma 46 0.053
139
TRT001 Teratocarcinoma 46 0.053
140
GLL048 Glial Tumor 45 0.053
141
LWC001 Low Compliance Bladder 42 0.053
142
c AGM013 Agammaglobulinemia 1, Autosomal Recessive 36 0.053
143
c CNG205 Congenital Disorder of Glycosylation, Type Ij 35 0.053
144
ARG004 Argyria 28 0.053
145
c GLC079 Glaucoma 1, Open Angle, P 23 0.053
146
c BLD146 Blood Group, P1pk System 21 0.053
147
SLC037 Slc35a2-Congenital Disorder of Glycosylation 12 0.053
148
P DBT026 Diabetes Mellitus, Noninsulin-Dependent 89 0.037
149
c AMY091 Amyotrophic Lateral Sclerosis 1 89 0.037
150
c LKM061 Leukemia, Acute Myeloid 83 0.037
151
CYS001 Cystic Fibrosis 80 0.037
152
MLR004 Malaria 80 0.037
153
STR067 Stroke, Ischemic 80 0.037
154
INS024 Insulin-Like Growth Factor I 79 0.037
155
IMM167 Immune Deficiency Disease 78 0.037
156
CRV035 Cervical Cancer 76 0.037
157
DFC004 Deficiency Anemia 75 0.037
158
END057 Endometrial Cancer 74 0.037
159
LYM143 Lymphoma, Non-Hodgkin, Familial 72 0.037
160
PRP027 Peripheral Vascular Disease 71 0.037
161
HMN044 Human Immunodeficiency Virus Type 1 71 0.037
162
c GCH015 Gaucher Disease, Type I 70 0.037
163
c HPT073 Hepatitis C Virus 70 0.037
164
P MTC003 Metachromatic Leukodystrophy 70 0.037
165
DWN001 Down Syndrome 70 0.037
166
GST040 Gastric Adenocarcinoma 70 0.037
167
MYL009 Myelodysplastic Syndrome 70 0.037
168
P KRB001 Krabbe Disease 69 0.037
169
RCK004 Rickets 69 0.037
170
LYM133 Lymphoma, Hodgkin, Classic 69 0.037
171
P LYM118 Lymphoma 68 0.037
172
P THR014 Thrombocytopenia 68 0.037
173
SKN019 Skin Melanoma 67 0.037
174
P CHR012 Chronic Granulomatous Disease 67 0.037
175
P LPR021 Leprosy 3 67 0.037
176
MLD001 Melioidosis 67 0.037
177
c TYR012 Tyrosinemia, Type I 67 0.037
178
P LKM002 Leukemia 66 0.037
179
c MCL062 Mucolipidosis Ii Alpha/beta 66 0.037
180
OST159 Osteogenic Sarcoma 66 0.037
181
UND005 Undifferentiated Pleomorphic Sarcoma 66 0.037
182
P ASP006 Aspergillosis 66 0.037
183
ANG054 Angina Pectoris 66 0.037
184
NPH091 Nephrolithiasis, Calcium Oxalate 66 0.037
185
P HYD006 Hydrocephalus 65 0.037
186
LNG039 Lung Squamous Cell Carcinoma 65 0.037
187
PRT036 Peritonitis 65 0.037
188
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 65 0.037
189
ATM096 Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia 64 0.037
190
INC002 Inclusion Body Myositis 64 0.037
191
KWS002 Kawasaki Disease 64 0.037
192
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 64 0.037
193
CLR108 Colorectal Adenoma 64 0.037
194
ALL026 Allergic Hypersensitivity Disease 64 0.037
195
P GCH001 Gaucher's Disease 64 0.037
196
P VSC007 Vascular Disease 63 0.037
197
LYM017 Lyme Disease 63 0.037
198
TYP007 Typhoid Fever 63 0.037
199
ART002 Arts Syndrome 63 0.037
200
ANR007 Anorexia Nervosa 63 0.037
201
P HYP069 Hyperparathyroidism 62 0.037
202
NNL005 Non-Alcoholic Fatty Liver Disease 62 0.037
203
P PRD008 Periodontitis 62 0.037
204
P HML002 Hemolytic Anemia 62 0.037
205
CLT003 Colitis 62 0.037
206
P VSC011 Vasculitis 62 0.037
207
HYP780 Hypoadrenocorticism, Familial 62 0.037
208
MDD011 Mood Disorder 62 0.037
209
ALC006 Alcoholic Hepatitis 61 0.037
210
MSL001 Measles 61 0.037
211
ATM095 Autoimmune Disease 61 0.037
212
P TMR018 Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 60 0.037
213
NRL005 Neurilemmoma 60 0.037
214
SPN186 Spinal Cord Injury 60 0.037
215
P MYL006 Myeloid Leukemia 60 0.037
216
THY029 Thyroid Carcinoma 59 0.037
217
c HYP798 Hypophosphatemic Rickets, X-Linked Recessive 59 0.037
218
STT001 Status Epilepticus 59 0.037
219
c ACT071 Acute Kidney Failure 59 0.037
220
SPP011 Suppression of Tumorigenicity 12 59 0.037
221
P VTL004 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 59 0.037
222
DCT002 Ductal Carcinoma in Situ 59 0.037
223
PPT005 Peptic Ulcer Disease 58 0.037
224
CRY005 Cryptococcosis 58 0.037
225
BRS051 Breast Disease 58 0.037
226
P MCR010 Microcephaly 58 0.037
227
P URT039 Urticaria 58 0.037
228
P TYR004 Tyrosinemia 58 0.037
229
P CND004 Candidiasis 57 0.037
230
P INF032 Infertility 57 0.037
231
P FTT008 Fatty Liver Disease, Nonalcoholic 1 57 0.037
232
P EHL001 Ehlers-Danlos Syndrome 57 0.037
233
SCH014 Schistosomiasis 56 0.037
234
P NRP001 Neuropathy 56 0.037
235
HYP266 Hypoxia 56 0.037
236
GLL018 Gallbladder Cancer 56 0.037
237
SML019 Smallpox 56 0.037
238
RHM027 Rheumatic Disease 56 0.037
239
HPT022 Hepatoblastoma 56 0.037
240
c SVR001 Severe Acute Respiratory Syndrome 55 0.037
241
P GRV001 Graves' Disease 55 0.037
242
c BCT007 Bacterial Meningitis 55 0.037
243
PLV003 Pelvic Inflammatory Disease 55 0.037
244
CHL014 Cholera 55 0.037
245
CRC006 Carcinoid Syndrome 55 0.037
246
CRT017 Cartilage Disease 54 0.037
247
P ART021 Arteriosclerosis 54 0.037
248
P ICH004 Ichthyosis 54 0.037
249
CRY003 Cryptosporidiosis 54 0.037
250
c HYP260 Hypophosphatemic Rickets, Autosomal Dominant 53 0.037
251
P LTR001 Lateral Sclerosis 53 0.037
252
OCL006 Ocular Hypertension 53 0.037
253
P INS002 in Situ Carcinoma 52 0.037
254
IMP005 Impotence 52 0.037
255
CHR073 Choreatic Disease 52 0.037
256
NNL006 Non-Alcoholic Steatohepatitis 51 0.037
257
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.037
258
c CNG191 Congenital Disorder of Glycosylation, Type Iia 50 0.037
259
c SCN007 Secondary Hyperparathyroidism 50 0.037
260
PTT041 Pituitary Stalk Interruption Syndrome 50 0.037
261
CLR109 Colorectal Adenocarcinoma 50 0.037
262
P SCK005 Sickle Cell Disease 50 0.037
263
TRY001 Trypanosomiasis 50 0.037
264
P CHR345 Chronic Pain 50 0.037
265
OPT003 Opiate Dependence 50 0.037
266
BLR001 Biliary Atresia 50 0.037
267
FDL002 Food Allergy 49 0.037
268
ENT004 Enthesopathy 48 0.037
269
SXL003 Sexual Disorder 48 0.037
270
P BRS053 Breast Fibroadenoma 48 0.037
271
CLC006 Calcinosis 48 0.037
272
SPL018 Splenomegaly 48 0.037
273
SPH010 Sphingolipidosis 47 0.037
274
THY128 Thyroid Tumor 47 0.037
275
MLT006 Multidrug-Resistant Tuberculosis 47 0.037
276
CLS016 Clostridium Difficile Colitis 46 0.037
277
HST009 Histiocytoma 46 0.037
278
PRX001 Peroxisomal Disease 46 0.037
279
c INH020 Inherited Metabolic Disorder 46 0.037
280
CHR607 Chorea, Childhood-Onset, with Psychomotor Retardation 46 0.037
281
EPD015 Epidemic Typhus 46 0.037
282
SYN036 Syncope 45 0.037
283
MLG065 Malignant Fibroxanthoma 44 0.037
284
ATX038 Ataxia and Polyneuropathy, Adult-Onset 44 0.037
285
c PCH010 Pachyonychia Congenita 3 43 0.037
286
VRL003 Variola Major 43 0.037
287
MCR011 Microinvasive Gastric Cancer 43 0.037
288
BLD161 Blood Group, Globoside System 42 0.037
289
EXT022 Exotropia 42 0.037
290
BBN001 Bubonic Plague 42 0.037
291
c VTL009 Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 42 0.037
292
FSC002 Fascioliasis 41 0.037
293
P RRH023 Rare Hereditary Hemochromatosis 41 0.037
294
FBR003 Fibrous Histiocytoma 41 0.037
295
c CNG187 Congenital Disorder of Glycosylation, Type Iid 41 0.037
296
INF159 Infantile Sialic Acid Storage Disease 40 0.037
297
EXT006 Extrahepatic Cholestasis 40 0.037
298
FML091 Familial Tumoral Calcinosis 40 0.037
299
IMM080 Immunodeficiency 23 40 0.037
300
ART103 Arthrogryposis, Mental Retardation, and Seizures 40 0.037
301
CHL045 Choline Deficiency Disease 39 0.037
302
ALC005 Alcoholic Pancreatitis 39 0.037
303
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 39 0.037
304
BRS050 Breast Cyst 38 0.037
305
P CRB088 Cerebral Atrophy 38 0.037
306
FSR001 Fusariosis 38 0.037
307
OVR094 Ovarian Epithelial Cancer 38 0.037
308
HRW001 Hair Whorl 36 0.037
309
CHR178 Chromosomal Triplication 35 0.037
310
HNS001 Hansen's Disease 34 0.037
311
PYR009 Pyridoxine Deficiency Anemia 34 0.037
312
ALT003 Alternating Exotropia 34 0.037
313
PPL052 Papillomatosis, Confluent and Reticulated 34 0.037
314
P EHL076 Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 34 0.037
315
TRD008 Triiodothyronine Receptor Auxiliary Protein 34 0.037
316
FTD001 Foot Drop 33 0.037
317
HLT002 Halothane Hepatitis 33 0.037
318
c DNT047 Dentinogenesis Imperfecta Type 2 33 0.037
319
P FRS004 Free Sialic Acid Storage Disorders 32 0.037
320
c PRG019 Paragangliomas 2 31 0.037
321
PLY150 Polykaryocytosis Inducer 31 0.037
322
c LNG109 Lung Cancer Susceptibility 1 26 0.037
323
MLG164 Malignant Epithelial Tumor of Ovary 26 0.037
324
P PRG139 Progeroid Syndrome 26 0.037
325
FRT005 Fruit Allergy 24 0.037
326
c RNG021 Ring Chromosome 5 23 0.037
327
P HMG026 Hemoglobin E-Beta-Thalassemia Syndrome 23 0.037
329
HYP765 Hyperbilirubinemia, Shunt, Primary 17 0.037
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