Search results for adk

211 hits were found for adk

# Family MCID Name MIFTS Score
1
HYP241 Hypermethioninemia Due to Adenosine Kinase Deficiency 37 69.269
2
c ATS204 Autosomal Recessive Non-Syndromic Intellectual Disability 48 39.079
3
P EPL164 Epilepsy 68 20.972
4
HYP003 Hypermethioninemia 51 20.415
5
P ALZ034 Alzheimer Disease 87 14.811
6
LSC001 Lesch-Nyhan Syndrome 62 8.324
7
GLY015 Glycine N-Methyltransferase Deficiency 40 8.324
8
ATX023 Ataxia, Sensory, 1, Autosomal Dominant 37 8.324
9
STT001 Status Epilepticus 59 4.121
10
P TMP001 Temporal Lobe Epilepsy 49 3.974
11
P SZR006 Seizure Disorder 70 3.898
12
P SCH015 Schizophrenia 74 3.865
13
P GLM040 Glioma Susceptibility 1 71 3.774
14
MLG169 Malignant Astrocytoma 57 3.774
15
BRN071 Brain Injury 50 3.088
16
CRB004 Cerebral Artery Occlusion 45 2.990
17
P PRK039 Parkinsonism 55 2.961
18
KRT019 Keratitis, Hereditary 66 2.873
19
P ADN016 Adenocarcinoma 63 2.783
20
P HYP265 Hypotonia 42 2.588
21
ATH013 Atherosclerosis Susceptibility 63 2.504
22
P FTT008 Fatty Liver Disease, Nonalcoholic 1 48 2.502
23
NNL005 Non-Alcoholic Fatty Liver Disease 63 2.502
24
P DMN002 Dementia 66 2.502
25
P ENC018 Encephalopathy 62 2.502
26
TRM010 Traumatic Brain Injury 51 2.441
27
P MYC084 Mycobacterium Tuberculosis 1 68 2.316
28
HPT004 Hepatic Coma 43 2.316
29
HPT019 Hepatic Encephalopathy 59 2.316
30
P BRS044 Breast Adenocarcinoma 58 2.114
31
FCL014 Focal Epilepsy 53 2.043
32
P ENC004 Encephalitis 61 2.043
33
MLD001 Melioidosis 67 1.998
34
DSS032 Disease by Infectious Agent 55 1.998
35
PRT251 Proteinuria, Chronic Benign 57 1.726
36
GLL048 Glial Tumor 52 1.726
37
48X005 48,xyyy 39 1.726
38
URC003 Urachal Adenocarcinoma 30 1.726
39
GLM045 Glioma 63 1.726
40
BNR002 Bone Resorption Disease 47 1.638
41
c CHR684 Chronic Kidney Disease 69 1.638
42
P KDN018 Kidney Disease 72 1.638
43
PTR032 Peters-Plus Syndrome 63 1.544
44
P ANR048 Aniridia 1 64 1.544
45
ACT003 Acute Kidney Tubular Necrosis 46 1.544
46
P LVR013 Liver Disease 69 1.544
47
SVR001 Severe Acute Respiratory Syndrome 67 1.544
48
ADN018 Adenoma 59 1.544
49
ISC004 Ischemia 61 1.544
50
CHL068 Cholestasis 61 1.544
51
P CLR023 Colorectal Cancer 100 1.444
52
c HPT073 Hepatitis C Virus 71 1.444
53
P LNG064 Lung Cancer Susceptibility 3 70 1.444
54
SPP011 Suppression of Tumorigenicity 12 61 1.337
55
PLS025 Plasmablastic Lymphoma 56 1.337
56
P LYM118 Lymphoma 67 1.337
57
ALC028 Alacrima, Achalasia, and Mental Retardation Syndrome 68 1.337
58
SPS204 Spastic Paraplegia, Intellectual Disability, Nystagmus, and Obesity 44 1.337
59
MYL069 Myeloma, Multiple 77 1.337
60
GLC003 Glucose Intolerance 54 1.337
61
APP009 Appendix Adenocarcinoma 45 1.337
62
MCN001 Mucinous Adenocarcinoma 49 1.337
63
P LKM002 Leukemia 67 1.337
64
BNN003 Bone Inflammation Disease 48 1.337
65
P MTC069 Mitochondrial Disorders 57 1.337
66
HMP009 Haemophilus Influenzae 41 1.337
68
HYP638 Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome 32 1.323
69
c HYP698 Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2 29 1.323
70
P LCT001 Lactic Acidosis 51 1.323
71
c MTC088 Mitochondrial Dna Depletion Syndrome 13 43 1.323
72
BRC012 Brucellosis 66 1.323
73
P MTC010 Mitochondrial Dna Depletion Syndrome 47 1.323
74
UNC020 Unc80 Deficiency 10 1.323
75
HYP056 Hypoglycemia 65 1.323
76
INF065 Infantile Hypotonia 21 1.323
77
PLM014 Pleomorphic Adenoma 51 1.221
78
P CRD119 Cardiac Arrest 67 1.221
79
HYP266 Hypoxia 57 1.221
80
P DRM053 Dermatitis, Atopic 65 1.092
81
BRR014 Barrett Esophagus 66 1.092
82
c HYP836 Hypercholesterolemia, Familial, 1 73 1.092
83
ESP021 Esophageal Cancer 83 1.092
84
P NRB001 Neuroblastoma 66 1.092
85
EXT007 Extracutaneous Mastocytoma 38 1.092
86
MST004 Mast Cell Neoplasm 42 1.092
87
c HPT001 Hepatitis C 62 1.092
88
INS001 Insulinoma 59 1.092
89
END041 Endometrial Adenocarcinoma 64 1.092
90
PRS045 Prostatic Hypertrophy 53 1.092
91
DRM006 Dermatitis 62 1.092
92
P GLM007 Glomerulonephritis 60 1.092
93
SQM006 Squamous Cell Carcinoma 60 1.092
94
P MYS005 Myositis 56 0.946
95
c AMY091 Amyotrophic Lateral Sclerosis 1 88 0.946
96
ATS010 Autosomal Recessive Disease 42 0.946
97
GST105 Gastroesophageal Adenocarcinoma 42 0.946
98
P SML001 Small Cell Carcinoma 52 0.946
99
CLR108 Colorectal Adenoma 64 0.946
100
VSC053 Visceral Steatosis, Congenital 34 0.946
101
P DVL012 Developmental Dysplasia of the Hip 1 46 0.946
102
c SML038 Small Cell Cancer of the Lung 69 0.946
103
INC002 Inclusion Body Myositis 57 0.946
104
P PLY041 Polymyositis 59 0.946
105
PRT037 Pertussis 65 0.946
106
P MYP004 Myopathy 67 0.946
107
LRN003 Learning Disability 49 0.946
108
FTT001 Fatty Liver Disease 62 0.946
109
PST092 Posttransplant Acute Limbic Encephalitis 28 0.946
110
GST040 Gastric Adenocarcinoma 67 0.946
111
PLS011 Plasmacytoma 56 0.946
112
SCB001 Scabies 50 0.946
113
HLX001 Helix Syndrome 48 0.946
114
P DRM010 Dermatomyositis 61 0.946
115
ALL029 Allergic Disease 59 0.946
116
P LTR001 Lateral Sclerosis 58 0.946
117
CHL014 Cholera 62 0.946
118
NNT012 Neonatal Jaundice 53 0.946
119
CHL123 Chlamydia 58 0.946
120
c INH020 Inherited Metabolic Disorder 48 0.946
121
PLG002 Plague 58 0.946
122
PNC041 Pancreatic Ductal Adenocarcinoma 51 0.946
123
P CHR345 Chronic Pain 50 0.946
124
P BRS047 Breast Cancer 98 0.851
125
ANX004 Anoxia 40 0.772
126
PRS129 Prostatic Hyperplasia, Benign 49 0.772
127
P KLZ004 Kala-Azar 1 41 0.772
128
SCH060 Schistosoma Mansoni Infection, Susceptibility/ 38 0.772
129
PRX015 Paroxysmal Extreme Pain Disorder 56 0.772
130
GST092 Gastroesophageal Reflux 61 0.772
131
TRD008 Triiodothyronine Receptor Auxiliary Protein 33 0.772
132
HMN044 Human Immunodeficiency Virus Type 1 78 0.772
133
P INF037 Inflammatory Bowel Disease 53 0.772
134
IMM167 Immune Deficiency Disease 78 0.772
135
P PRS040 Prostate Cancer 95 0.772
136
P HRP006 Herpes Simplex 65 0.772
137
LSH001 Leishmaniasis 64 0.772
138
PRS047 Prostatitis 58 0.772
139
ACQ007 Acquired Immunodeficiency Syndrome 59 0.772
140
ATX031 Ataxia, Combined Cerebellar and Peripheral, with Hearing Loss and Diabetes Mellitus 58 0.772
141
CHL147 Chlamydia Pneumonia 47 0.772
142
CHG001 Chagas Disease 66 0.772
143
P NTR004 Neutropenia 63 0.772
144
P ESP024 Esophagitis 60 0.772
145
PRS021 Prostatic Adenoma 43 0.772
146
P MLN008 Melanoma 76 0.772
147
CYS014 Cystadenocarcinoma 51 0.772
148
SCH014 Schistosomiasis 56 0.772
149
DPH001 Diphtheria 59 0.772
150
FLR002 Filariasis 55 0.772
151
TCL003 T Cell Deficiency 44 0.772
152
SRS001 Serous Cystadenocarcinoma 52 0.772
153
PPT001 Peptic Esophagitis 52 0.772
154
KRK001 Krukenberg Carcinoma 39 0.772
156
DYS073 Dysphagia 53 0.772
157
CHR182 Chromosome 10p Duplication 18 0.772
158
CHR178 Chromosomal Triplication 34 0.772
159
P PNC035 Pancreatic Cancer 86 0.602
160
PST021 Postpartum Depression 50 0.546
161
EPL050 Epilepsy, Partial, with Pericentral Spikes 26 0.546
162
MYC006 Mycosis Fungoides 65 0.546
163
c ATM006 Autoimmune Lymphoproliferative Syndrome 75 0.546
164
ATM095 Autoimmune Disease 61 0.546
165
P PRK057 Parkinson Disease, Late-Onset 80 0.546
166
FDB001 Foodborne Botulism 55 0.546
167
EPD015 Epidemic Typhus 44 0.546
168
DFF005 Diffuse Large B-Cell Lymphoma 54 0.546
169
P URN019 Urinary Tract Infection 49 0.546
170
P CNG436 Congenital Disorder of Deglycosylation 51 0.546
171
MLY008 Molybdenum Cofactor Deficiency, Complementation Group a 47 0.546
172
OCL069 Ocular Motor Apraxia 57 0.546
173
P SRC025 Sarcoidosis 1 71 0.546
174
P HNT016 Huntington Disease 73 0.546
175
ADN024 Adenine Phosphoribosyltransferase Deficiency 53 0.546
177
MLY001 Molybdenum Cofactor Deficiency 40 0.546
178
LYM014 Lymphangitis 38 0.546
179
P BCL017 B-Cell Lymphoma 59 0.546
180
P MSC003 Muscular Atrophy 52 0.546
181
ADN001 Adenosine Deaminase Deficiency 59 0.546
182
P TRM003 Tremor 48 0.546
183
P ALC033 Alcohol Use Disorder 61 0.546
184
PLM001 Pulmonary Tuberculosis 69 0.546
185
PRT002 Paratyphoid Fever 54 0.546
186
P CND004 Candidiasis 58 0.546
187
LYM027 Lymphopenia 56 0.546
188
P ART022 Arthritis 71 0.546
189
OST012 Osteoarthritis 77 0.546
190
P PRD008 Periodontitis 64 0.546
191
P GRF003 Graft-Versus-Host Disease 71 0.546
192
c RBN023 Robinow Syndrome, Autosomal Recessive 2 26 0.546
193
c ACT068 Acute Cystitis 61 0.546
194
SCR008 Scrub Typhus 57 0.546
195
PLM012 Pulmonary Sarcoidosis 53 0.546
196
SKN006 Skin Sarcoidosis 42 0.546
197
MST005 Mastitis 53 0.546
198
P MCR010 Microcephaly 60 0.546
199
BRN024 Bronchitis 67 0.546
200
BCT002 Bacterial Vaginosis 53 0.546
201
P KDN017 Kidney Cancer 61 0.546
202
VLV011 Vulvovaginal Candidiasis 49 0.546
203
CLN003 Clonorchiasis 43 0.546
204
LYM021 Lymphadenitis 56 0.546
205
VGN023 Vaginitis 56 0.546
206
LPT001 Leptospirosis 66 0.546
207
NRN004 Neuroendocrine Tumor 59 0.546
208
PTH003 Pathologic Nystagmus 52 0.546
209
NSS002 Neisseria Meningitidis Infection 47 0.546
210
CYT002 Cytokine Deficiency 43 0.546
211
DHY008 Dihydroxyadeninuria 24 0.546
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