Search results for hprt1

223 hits were found for hprt1

# Family MCID Name MIFTS Score
1
LSC001 Lesch-Nyhan Syndrome 62 83.786
3
GT001 Gout 64 24.172
4
HYP014 Hyperuricemia 51 18.911
5
P CLR023 Colorectal Cancer 100 18.221
6
NPH009 Nephrolithiasis 54 15.560
7
P MCR010 Microcephaly 60 11.819
8
P DYS154 Dystonia 64 11.469
9
P ATX030 Ataxia-Telangiectasia 80 11.413
10
P APL001 Aplastic Anemia 73 11.413
11
XRD010 Xeroderma Pigmentosum, Variant Type 73 11.413
12
NPH078 Nephrolithiasis, Uric Acid 39 11.413
13
BLM001 Bloom Syndrome 65 11.413
14
TRT001 Teratocarcinoma 42 11.413
15
P SKN015 Skin Carcinoma 71 11.413
16
P CCK001 Cockayne Syndrome 68 11.413
17
P LKM062 Leukemia, Acute Lymphoblastic 69 11.219
18
DSR074 Disorder of Purine Metabolism 23 10.432
19
P INF037 Inflammatory Bowel Disease 53 10.283
20
P FRG001 Fragile X Syndrome 70 10.106
21
c FNC027 Fanconi Anemia, Complementation Group a 81 9.875
22
P RTT002 Rett Syndrome 79 9.319
23
PHS004 Phosphoribosylpyrophosphate Synthetase Superactivity 49 9.319
24
c TBL031 Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 47 9.319
25
PRN001 Purine Nucleoside Phosphorylase Deficiency 53 9.319
26
URL001 Urolithiasis 46 9.319
27
ADN024 Adenine Phosphoribosyltransferase Deficiency 53 9.319
28
IMM174 Immunodeficiency with Hyper-Igm, Type 1 64 9.319
29
P MVM001 Movement Disease 61 9.319
30
CNN005 Connective Tissue Disease 67 9.319
31
c RTN052 Retinitis Pigmentosa 23 37 6.589
32
ART002 Arts Syndrome 66 6.589
33
P RTN008 Retinitis Pigmentosa 80 6.589
34
P HYP761 Hypouricemia, Renal, 1 44 6.589
35
XLN230 X-Linked Monogenic Disease 18 6.589
36
c CTR097 Cataract 34, Multiple Types 29 6.589
37
c CTR103 Cataract 4, Multiple Types 48 6.589
38
c NRP044 Neuropathy, Hereditary Sensory and Autonomic, Type Viii 43 6.589
39
c PSR018 Psoriasis 13 52 6.589
40
c INF075 Inflammatory Bowel Disease 16 32 6.589
41
c MYS074 Myasthenic Syndrome, Congenital, 12 45 6.589
42
c PRK085 Parkinson Disease 1, Autosomal Dominant 49 6.589
43
c DFN173 Deafness, Autosomal Recessive 40 25 6.589
44
c DFN030 Deafness, Autosomal Recessive 55 25 6.589
45
HRD224 Hereditary Nonpolyposis Colon Cancer 51 6.589
46
XLN228 X-Linked Recessive Disease 24 6.589
47
DSS008 Disease of Mental Health 74 6.589
48
c HYP562 Hypothyroidism, Congenital, Nongoitrous, 6 38 6.589
49
PRN024 Purine-Pyrimidine Metabolic Disorder 25 6.589
50
TTR005 Tetrahydrobiopterin Deficiency 48 6.589
51
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 3.539
52
CRB037 Cerebral Palsy 67 3.014
53
c ACT071 Acute Kidney Failure 60 2.794
54
NPH091 Nephrolithiasis, Calcium Oxalate 61 2.633
55
P HYP265 Hypotonia 42 2.151
56
END057 Endometrial Cancer 72 1.928
57
SPS057 Spasticity 42 1.900
58
ULC004 Ulcerative Colitis 74 1.900
59
P NRB001 Neuroblastoma 66 1.751
60
ATH004 Athetosis 25 1.751
61
CRH001 Crohn's Disease 80 1.574
62
P OST002 Osteoporosis 76 1.473
63
c BNM022 Bone Mineral Density Quantitative Trait Locus 8 45 1.473
64
P BNM029 Bone Mineral Density Quantitative Trait Locus 15 48 1.473
65
HYP266 Hypoxia 57 1.473
66
NNL005 Non-Alcoholic Fatty Liver Disease 63 1.363
67
P HPT023 Hepatocellular Carcinoma 96 1.363
68
P NSP012 Nasopharyngeal Carcinoma 61 1.245
69
P PRS040 Prostate Cancer 95 1.245
70
LVR012 Liver Cirrhosis 63 1.245
71
P ATS364 Autism 69 1.130
72
FNG016 Fungal Keratitis 39 1.113
73
P BRS047 Breast Cancer 98 1.113
74
KRT019 Keratitis, Hereditary 66 1.113
75
c THY109 Thyroid Cancer, Nonmedullary, 1 55 1.113
76
THY029 Thyroid Carcinoma 51 1.113
77
P EPL164 Epilepsy 68 1.113
78
OST012 Osteoarthritis 77 1.113
79
P CRN024 Corneal Disease 44 1.113
80
CRN027 Corneal Neovascularization 47 1.113
81
P TMP001 Temporal Lobe Epilepsy 49 1.113
82
P GLM007 Glomerulonephritis 60 1.113
83
c HPT016 Hepatitis B 62 1.113
84
P SZR006 Seizure Disorder 70 0.964
85
P AVS003 Avascular Necrosis 41 0.964
86
CRV035 Cervical Cancer 73 0.964
87
P PLM037 Pulmonary Hypertension 72 0.964
88
CRC021 Carcinosarcoma 64 0.964
89
GLB002 Glioblastoma 67 0.964
90
SPN035 Spindle Cell Sarcoma 54 0.964
91
HYP082 Hypopharynx Cancer 47 0.964
92
P DNG005 Dengue Virus 56 0.964
93
P MLN008 Melanoma 76 0.964
94
SRC014 Sarcoma 65 0.964
95
MST005 Mastitis 53 0.964
96
UTR043 Uterine Sarcoma 40 0.964
97
P LNG032 Lung Cancer 98 0.787
98
SPN186 Spinal Cord Injury 61 0.787
99
MSC157 Muscular Dystrophy, Duchenne Type 79 0.787
100
AGN016 Aging 54 0.787
101
P MLT020 Multiple Sclerosis 79 0.787
102
c AMY091 Amyotrophic Lateral Sclerosis 1 88 0.787
103
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 0.787
104
c HPT073 Hepatitis C Virus 71 0.787
105
TBL029 Tubulin, Beta 28 0.787
106
c NRP037 Neuropathy, Hereditary Sensory and Autonomic, Type V 55 0.787
107
MYL069 Myeloma, Multiple 77 0.787
108
URT049 Urate Oxidase, Pseudogene 24 0.787
109
MRS009 Marsili Syndrome 21 0.787
110
TNG007 Tongue Carcinoma 52 0.787
111
P MSC005 Muscular Dystrophy 67 0.787
112
HYP066 Hyperglycemia 61 0.787
113
c HPT001 Hepatitis C 62 0.787
114
P GST044 Gastritis 55 0.787
115
CLR030 Clear Cell Renal Cell Carcinoma 54 0.787
116
THY006 Thymus Lymphoma 27 0.787
117
P LTR001 Lateral Sclerosis 58 0.787
118
RLP002 Relapsing-Remitting Multiple Sclerosis 56 0.787
119
c ACT027 Acute Pancreatitis 60 0.787
120
P HPT021 Hepatitis 69 0.787
121
CLN015 Colon Adenocarcinoma 65 0.787
122
P ADN016 Adenocarcinoma 63 0.787
123
P INT099 Intrahepatic Cholestasis of Pregnancy 62 0.787
124
P PLY011 Polycystic Ovary Syndrome 57 0.787
125
THY030 Thyroid Gland Disease 50 0.787
126
P PNC044 Pancreatitis 61 0.787
127
CHL068 Cholestasis 61 0.787
128
STT001 Status Epilepticus 59 0.787
129
CYT002 Cytokine Deficiency 43 0.787
130
P PNC035 Pancreatic Cancer 86 0.573
131
PLY100 Polyploidy 36 0.557
132
P THL005 Thalassemia 56 0.557
133
MCN019 Mucinous Adenocarcinoma of Ovary 16 0.557
134
P BLD134 Bladder Cancer 79 0.557
135
PRS129 Prostatic Hyperplasia, Benign 49 0.557
136
YMN001 Yemenite Deaf-Blind Hypopigmentation Syndrome 66 0.557
137
PLM134 Pulmonary Fibrosis, Idiopathic 76 0.557
138
P AST005 Asthma 76 0.557
139
ONC007 Oncocytoma 50 0.557
140
P RHM011 Rheumatoid Arthritis 82 0.557
141
P FCS012 Facioscapulohumeral Muscular Dystrophy 1 68 0.557
142
P OVR042 Ovarian Cancer 88 0.557
143
c EXD008 Exudative Vitreoretinopathy 1 71 0.557
144
c FBR046 Fibrosis of Extraocular Muscles, Congenital, 1 59 0.557
145
c ATR087 Atrial Standstill 1 74 0.557
146
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.557
147
c LKM063 Leukemia, Chronic Myeloid 71 0.557
148
CHR100 Chronic Ulcer of Skin 57 0.557
149
MTB004 Metabolic Acidosis 48 0.557
150
P FML011 Familial Adenomatous Polyposis 71 0.557
151
c MCR115 Microvascular Complications of Diabetes 5 65 0.557
152
DFC004 Deficiency Anemia 74 0.557
153
CRB028 Cerebellar Medulloblastoma 34 0.557
154
OLG022 Oligoasthenoteratozoospermia 36 0.557
155
P CRP001 Carpal Tunnel Syndrome 66 0.557
157
HRN029 Hearing Loss, Noise-Induced 37 0.557
158
VRC005 Varicose Veins 60 0.557
159
OST159 Osteogenic Sarcoma 66 0.557
160
c HYP595 Hypertension, Essential 85 0.557
161
RNL114 Renal Cell Carcinoma, Nonpapillary 80 0.557
162
P HNT016 Huntington Disease 73 0.557
163
P MDL005 Medulloblastoma 75 0.557
164
c ALT008 Alternating Hemiplegia of Childhood 1 39 0.557
165
RNL077 Renal Fibrosis 46 0.557
166
LMY002 Leiomyoma 51 0.557
167
NPH003 Nephrocalcinosis 49 0.557
168
TRM010 Traumatic Brain Injury 51 0.557
169
P HYP083 Hypopituitarism 52 0.557
170
c CHR684 Chronic Kidney Disease 69 0.557
171
P KDN018 Kidney Disease 72 0.557
172
P RBL001 Rubella 58 0.557
173
P MYL006 Myeloid Leukemia 61 0.557
174
FTT001 Fatty Liver Disease 62 0.557
175
OVR011 Ovarian Mucinous Adenocarcinoma 34 0.557
176
APP009 Appendix Adenocarcinoma 45 0.557
177
GLL048 Glial Tumor 52 0.557
178
P ALC033 Alcohol Use Disorder 61 0.557
179
P LVR013 Liver Disease 69 0.557
180
MCN001 Mucinous Adenocarcinoma 49 0.557
181
P FBR017 Fibrosarcoma 56 0.557
182
P PLM036 Pulmonary Fibrosis 66 0.557
183
P SYS005 Systemic Scleroderma 74 0.557
184
LNG039 Lung Squamous Cell Carcinoma 57 0.557
185
NRM005 Neuromuscular Disease 63 0.557
186
END086 End Stage Renal Disease 52 0.557
187
PRP016 Paraplegia 52 0.557
188
P ART022 Arthritis 71 0.557
189
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.557
190
HLX001 Helix Syndrome 48 0.557
191
TCK001 Tick-Borne Encephalitis 59 0.557
192
c PRC016 Pre-Eclampsia 65 0.557
193
c DLT002 Dilated Cardiomyopathy 78 0.557
194
P LKM002 Leukemia 67 0.557
195
P GLL022 Guillain-Barre Syndrome 60 0.557
196
PRS021 Prostatic Adenoma 43 0.557
197
c HRD010 Hereditary Spastic Paraplegia 66 0.557
198
MYL031 Myeloproliferative Neoplasm 66 0.557
199
PPL002 Papillary Carcinoma 46 0.557
200
P END044 Endometriosis 62 0.557
201
GST033 Gestational Diabetes 61 0.557
202
CHL123 Chlamydia 58 0.557
203
PRS045 Prostatic Hypertrophy 53 0.557
204
TRC008 Trachoma 53 0.557
205
CNG034 Congestive Heart Failure 69 0.557
206
c INH020 Inherited Metabolic Disorder 48 0.557
207
P INF032 Infertility 57 0.557
208
P RTN018 Retinal Disease 53 0.557
209
P GLL018 Gallbladder Cancer 53 0.557
210
P KDN017 Kidney Cancer 61 0.557
211
NWC001 Newcastle Disease 47 0.557
212
P HRD011 Hereditary Spherocytosis 64 0.557
213
AZS001 Azoospermia 45 0.557
214
ENT004 Enthesopathy 51 0.557
215
SQM006 Squamous Cell Carcinoma 60 0.557
216
P MYC008 Myocarditis 59 0.557
217
P ENC004 Encephalitis 61 0.557
218
MYX011 Myxozoa 18 0.557
219
ATN005 Autonomic Dysfunction 46 0.557
220
BRN071 Brain Injury 50 0.557
221
DYS073 Dysphagia 53 0.557
222
P ATS382 Autosomal Dominant Tubulointerstitial Kidney Disease 34 0.557
223
GLM045 Glioma 63 0.557
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