Search results for tpmt

184 hits were found for tpmt

# Family MCID Name MIFTS Score
1
P THP004 Thiopurines, Poor Metabolism of, 1 42 60.564
2
THP001 Thiopurine S Methyltranferase Deficiency 20 55.575
3
P INF037 Inflammatory Bowel Disease 53 33.095
4
P LKM062 Leukemia, Acute Lymphoblastic 69 32.137
5
P NTR004 Neutropenia 63 30.776
6
ULC004 Ulcerative Colitis 74 23.607
7
CRH001 Crohn's Disease 80 22.946
8
CHL152 Childhood Acute Lymphocytic Leukemia 50 20.986
9
c ACT073 Acute Leukemia 58 20.126
10
PNC001 Pancytopenia 53 19.139
11
c ATM011 Autoimmune Hepatitis 63 18.887
12
ATM095 Autoimmune Disease 61 18.338
13
P DRM053 Dermatitis, Atopic 65 14.112
14
P LKM002 Leukemia 67 12.416
15
HPT046 Hepatic Veno-Occlusive Disease 62 11.463
16
P APL001 Aplastic Anemia 73 10.895
17
GLB001 Gilbert Syndrome 53 10.327
18
CMR002 Coumarin Resistance 59 10.327
19
DRG024 Drug Allergy 40 10.327
20
NDL013 Nodular Regenerative Hyperplasia 46 9.098
21
PDT027 Pediatric Ulcerative Colitis 27 7.976
22
GST090 Gastroduodenal Crohn's Disease 30 7.302
23
SVR097 Severe Cutaneous Adverse Reaction 69 7.302
24
c PLY008 Polyneuropathy Due to Drug 19 7.302
25
ANR003 Anorectal Stricture 32 7.302
26
P THR014 Thrombocytopenia 66 6.396
27
CLT003 Colitis 63 6.020
28
c SYS001 Systemic Lupus Erythematosus 87 5.602
29
P LPS004 Lupus Erythematosus 61 5.602
30
P PMP001 Pemphigus 55 5.379
31
c LKM061 Leukemia, Acute Myeloid 83 5.183
32
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 4.433
33
CRH005 Crohn's Colitis 53 4.421
34
PMP006 Pemphigus Vulgaris, Familial 58 4.313
35
P MYS003 Myasthenia Gravis 68 4.034
36
P ALP008 Alopecia 54 4.034
37
P VSC011 Vasculitis 61 3.958
38
P MYL006 Myeloid Leukemia 61 3.785
39
P LVR013 Liver Disease 69 3.162
40
BRN028 Brain Cancer 74 3.111
41
NRM001 Neuromyelitis Optica 61 3.078
42
UND004 Undetermined Colitis 22 3.016
43
URM002 Uremia 47 2.951
44
PLM134 Pulmonary Fibrosis, Idiopathic 76 2.946
45
P PLM036 Pulmonary Fibrosis 66 2.946
46
P RHM011 Rheumatoid Arthritis 82 2.840
47
DRM006 Dermatitis 62 2.840
48
ANC002 Anca-Associated Vasculitis 44 2.837
49
P EXN002 Exanthem 58 2.782
50
P BLY001 B-Lymphoblastic Leukemia/lymphoma 52 2.722
51
c VRL010 Viral Hepatitis 53 2.664
52
PRM236 Primary Biliary Cholangitis 60 2.664
53
GRN017 Granulocytopenia 42 2.664
54
DHY002 Dihydropyrimidine Dehydrogenase Deficiency 57 2.558
55
CHL061 Childhood Leukemia 47 2.540
56
PMP014 Pemphigoid 51 2.476
57
BLL006 Bullous Pemphigoid 61 2.342
58
PRT013 Portal Hypertension 59 2.342
59
PRS129 Prostatic Hyperplasia, Benign 49 2.280
60
PRS021 Prostatic Adenoma 43 2.280
61
PRS045 Prostatic Hypertrophy 53 2.280
62
47X002 47,xyy 48 2.272
63
SKN016 Skin Disease 63 2.272
64
LVR012 Liver Cirrhosis 63 2.272
65
P ART022 Arthritis 71 2.200
66
MYL009 Myelodysplastic Syndrome 67 2.177
67
DFC004 Deficiency Anemia 74 2.177
68
P PNC044 Pancreatitis 61 2.125
69
P MDL005 Medulloblastoma 75 1.944
70
GRM010 Germ Cells Tumors 33 1.944
71
LYM027 Lymphopenia 56 1.884
72
ENT004 Enthesopathy 51 1.884
73
IRN001 Iron Deficiency Anemia 58 1.810
74
PNC041 Pancreatic Ductal Adenocarcinoma 51 1.810
75
IRN002 Iron Metabolism Disease 57 1.810
76
STM007 Stomatitis 54 1.810
77
SPN362 Spondylometaphyseal Dysplasia, Sedaghatian Type 42 1.796
78
CHL068 Cholestasis 61 1.796
79
P ASP006 Aspergillosis 72 1.704
80
HLX001 Helix Syndrome 48 1.704
81
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 1.658
82
PMP004 Pemphigus Foliaceus 43 1.658
83
OST159 Osteogenic Sarcoma 66 1.658
84
P RNG032 Ring Chromosome 39 1.658
85
ACT113 Acute Myeloblastic Leukemia with Maturation 46 1.658
86
c RNG022 Ring Chromosome 6 28 1.658
87
P TMR010 Tumor Predisposition Syndrome 67 1.606
88
P PRT133 Proteasome-Associated Autoinflammatory Syndrome 1 80 1.606
89
MCS002 Mucositis 56 1.606
90
BNG077 Benign Idiopathic Neonatal Seizures 23 1.503
91
SPL018 Splenomegaly 49 1.503
92
P LYM118 Lymphoma 67 1.499
93
PSR001 Psoriatic Arthritis 62 1.477
94
PRT251 Proteinuria, Chronic Benign 57 1.477
95
P HRP006 Herpes Simplex 65 1.477
96
HPT022 Hepatoblastoma 54 1.477
97
P HPT023 Hepatocellular Carcinoma 96 1.391
98
P MSC003 Muscular Atrophy 52 1.391
99
PMP010 Pompholyx 34 1.391
100
ADN018 Adenoma 59 1.391
101
c WLF013 Wolfram Syndrome 1 60 1.270
102
c SCL052 Scleroderma, Familial Progressive 61 1.270
103
HMC014 Homocysteinemia 52 1.270
104
GRN037 Granulomatosis with Polyangiitis 64 1.270
105
HPT004 Hepatic Coma 43 1.270
106
CNN005 Connective Tissue Disease 67 1.270
107
MYF002 Myofascial Pain Syndrome 46 1.270
108
P DRM010 Dermatomyositis 61 1.270
109
HPT019 Hepatic Encephalopathy 59 1.270
110
P HPT021 Hepatitis 69 1.270
111
P ENC018 Encephalopathy 62 1.270
112
ALP048 Alopecia Totalis 31 1.270
113
HRN018 Hearing Loss, Cisplatin-Induced 10 1.242
114
LNG099 Lung Disease 62 1.242
115
INT066 Interstitial Lung Disease 60 1.242
116
P OVR042 Ovarian Cancer 88 1.141
117
PRC049 Precursor T-Cell Acute Lymphoblastic Leukemia 45 1.136
118
c BDY007 Body Mass Index Quantitative Trait Locus 1 40 1.136
119
INS015 Inosine Triphosphatase Deficiency 22 1.136
120
THP005 Thiopurines, Poor Metabolism of, 2 17 1.136
121
c INF089 Inflammatory Bowel Disease 6 28 1.136
122
MLT161 Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly 55 0.984
123
P THL005 Thalassemia 56 0.984
124
c BTT014 Beta-Thalassemia 72 0.984
125
VRC005 Varicose Veins 60 0.984
126
P RTN024 Retinoblastoma 73 0.984
127
YLL002 Yellow Fever 61 0.984
128
OST003 Osteonecrosis 61 0.984
129
ESP002 Esophageal Varix 51 0.984
130
PRP030 Purpura 54 0.984
131
P DRR001 Diarrhea 55 0.984
132
c ACQ014 Acquired Hemophilia 45 0.984
133
P HMP007 Hemophilia 52 0.984
134
HMR013 Hemorrhagic Proctocolitis 17 0.984
135
P BRS047 Breast Cancer 98 0.811
136
LYM133 Lymphoma, Hodgkin, Classic 74 0.803
137
ESN022 Eosinophilic Colitis 24 0.803
138
P TST021 Testicular Germ Cell Tumor 61 0.803
139
c ANM038 Anemia, Autoimmune Hemolytic 64 0.803
140
LYM143 Lymphoma, Non-Hodgkin, Familial 75 0.803
141
c HPT073 Hepatitis C Virus 71 0.803
142
CRD137 Cardiogenic Shock 56 0.803
143
P NRP001 Neuropathy 60 0.803
144
P HML002 Hemolytic Anemia 62 0.803
145
P HYP098 Hypereosinophilic Syndrome 66 0.803
146
c HPT001 Hepatitis C 62 0.803
147
P SNS001 Sensorineural Hearing Loss 59 0.803
148
ALL029 Allergic Disease 59 0.803
149
HYP063 Hypersplenism 52 0.803
150
P PRP019 Peripheral Nervous System Disease 58 0.803
151
c THR001 Thrombocytopenia Due to Platelet Alloimmunization 60 0.803
152
HYP056 Hypoglycemia 65 0.803
153
FST010 Fasting Hypoglycemia 33 0.803
154
c INF071 Inflammatory Bowel Disease 1 65 0.696
155
SCH036 Scheie Syndrome 73 0.696
156
GST106 Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets 65 0.696
157
LYM040 Lymphoblastic Lymphoma 53 0.696
158
P INT068 Intestinal Disease 53 0.696
159
LYM019 Lymphosarcoma 46 0.696
160
P PNC035 Pancreatic Cancer 86 0.573
161
c PNC108 Pancreatitis, Hereditary 69 0.568
162
PLY023 Polycystic Liver Disease 60 0.568
163
CVD001 Covid-19 57 0.568
164
NNL006 Non-Alcoholic Steatohepatitis 54 0.568
165
P LYM033 Lymphoproliferative Syndrome 59 0.568
166
P SRC025 Sarcoidosis 1 71 0.568
168
c CHR684 Chronic Kidney Disease 69 0.568
169
P MYP004 Myopathy 67 0.568
170
P MLG056 Malignant Hyperthermia 66 0.568
171
FTT001 Fatty Liver Disease 62 0.568
172
P SKN015 Skin Carcinoma 71 0.568
174
c ACT027 Acute Pancreatitis 60 0.568
175
DRG002 Drug-Induced Hepatitis 42 0.568
176
TST014 Testicular Cancer 52 0.568
177
P GLM007 Glomerulonephritis 60 0.568
178
CRS001 Crescentic Glomerulonephritis 42 0.568
179
c JVN010 Juvenile Rheumatoid Arthritis 66 0.568
180
MCR088 Microscopic Polyangiitis 51 0.568
181
PST046 Post-Transplant Lymphoproliferative Disease 53 0.568
182
PLM173 Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and 46,xx Sex Reversal 34 0.545
183
SKN022 Skin Squamous Cell Carcinoma 54 0.545
184
PSD011 Pseudovascular Skin Squamous Cell Carcinoma 16 0.545
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