Development Level

Tclin 47 | 612
Tbio 5 | 11,651
Tdark 2 | 6,593

IMPC Phenotype

preweaning lethality, complete... 10 | 979
cataract 2 | 92
embryonic lethality prior to o... 2 | 239
abnormal allantois morphology 1 | 8
abnormal behavior 1 | 298
abnormal chorioallantoic fusio... 1 | 8
abnormal embryo development 1 | 7
abnormal embryo size 1 | 220
abnormal embryo turning 1 | 31
abnormal heart morphology 1 | 162
abnormal lens morphology 1 | 81
abnormal neural tube morpholog... 1 | 12
abnormal tail movements 1 | 12
abnormal visceral yolk sac mor... 1 | 6
abnormal vitelline vasculature... 1 | 6
decreased circulating choleste... 1 | 93
decreased circulating triglyce... 1 | 79
decreased erythrocyte cell num... 1 | 62
decreased lactate dehydrogenas... 1 | 16
decreased total retina thickne... 1 | 17
decreased vertical activity 1 | 208
embryonic growth retardation 1 | 106
embryonic lethality prior to t... 1 | 278
hemorrhage 1 | 23
hypoactivity 1 | 132
increased body weight 1 | 25
increased circulating calcium ... 1 | 34
increased circulating phosphat... 1 | 26
increased grip strength 1 | 41
increased heart weight 1 | 62
increased lean body mass 1 | 172
pale yolk sac 1 | 25
pallor 1 | 34
prenatal lethality prior to he... 1 | 87

Disease

Diabetes mellitus type 2 47 | 69
Treatment Refractory Type 2 Diabetes Mellitus 47 | 53
Mitochondrial complex I deficiency 37 | 46
ovarian cancer 36 | 8,520
Leigh disease 28 | 100
Mitochondrial Complex 1 Deficiency 26 | 28
Multiple myeloma 24 | 1,332
NADH:Q(1) Oxidoreductase deficiency 23 | 24
Cerebellar Ataxia 22 | 304
Acidosis, Lactic 21 | 97
Blepharoptosis 21 | 231
Lactic acidemia 21 | 95
Sensorineural Hearing Loss (disorder) 21 | 284
Epilepsy 19 | 792
Failure to gain weight 18 | 365
Nystagmus 18 | 317
Pediatric failure to thrive 18 | 365
Seizures 18 | 596
Strabismus 18 | 270
Abnormal mitochondria in muscle tissue 17 | 20
Autosomal recessive predisposition 17 | 1,442
CSF lactate increased 17 | 33
Cognitive delay 17 | 608
Developmental regression 17 | 95
Global developmental delay 17 | 608
Highly variable clinical phenotype 17 | 150
Highly variable phenotype and severity 17 | 150
Highly variable phenotype, even within families 17 | 150
Hyperreflexia 17 | 209
Leigh syndrome 17 | 28
Loss of developmental milestones 17 | 95
Mental and motor retardation 17 | 608
Mental deterioration in childhood 17 | 95
Muscle Spasticity 17 | 195
Muscle Weakness 17 | 170
Muscle hypotonia 17 | 571
Neurodevelopmental regression 17 | 95
Phenotypic variability 17 | 150
Psychomotor regression 17 | 95
Psychomotor regression beginning in infancy 17 | 95
Psychomotor regression in infants 17 | 95
Psychomotor regression, progressive 17 | 95
Respiratory Failure 17 | 104
osteosarcoma 16 | 7,950
X-linked dominant 14 | 57
Acute necrotizing encephalopathy 13 | 14
Atrophy of cerebellum 13 | 103
Babinski Reflex 13 | 100
Blind Vision 13 | 111
Blindness, Legal 13 | 110
Brain Edema 13 | 50
Cerebellar degeneration 13 | 103
Cerebral Edema 13 | 30
Comatose 13 | 56
Decreased tendon reflex 13 | 122
Feeding difficulties in infancy 13 | 175
Growth delay 13 | 114
Growth failure 13 | 114
Growth retardation 13 | 115
Hypertrophic Cardiomyopathy 13 | 117
Hypoglycemia 13 | 152
Impaired exercise tolerance 13 | 42
Infratentorial atrophy 13 | 103
Lethargy 13 | 77
Leukodystrophy 13 | 55
Liver Failure 13 | 73
Neurogenic Muscular Atrophy 13 | 139
Neurogenic muscle atrophy, especially in the lower limbs 13 | 139
Pallor of optic disc 13 | 39
Poor growth 13 | 114
Progressive macrocephaly 13 | 18
Skeletal muscle atrophy 13 | 139
Very poor growth 13 | 114
Vomiting 13 | 116
muscle degeneration 13 | 139
pancreatic ductal adenocarcinoma liver metastasis 13 | 1,962
Dystonia 12 | 164
astrocytic glioma 12 | 2,597
Dystonic disease 11 | 106
Optic Atrophy 11 | 242
Increased serum lactate 10 | 60
Ophthalmoplegia 10 | 106
glioblastoma 10 | 5,792
lung cancer 10 | 4,740
Carcinoma 9 | 11,493
medulloblastoma, large-cell 9 | 6,241
psoriasis 9 | 6,694
Mitochondrial myopathy 8 | 26
Retinitis Pigmentosa 8 | 226
ependymoma 8 | 4,679
acute myeloid leukemia 7 | 783
atypical teratoid / rhabdoid tumor 7 | 5,112
Dull intelligence 6 | 645
Gliosis 6 | 56
Infantile onset 6 | 238
Low intelligence 6 | 645
Mental deficiency 6 | 645
Poor school performance 6 | 645
Progressive disorder 6 | 142
diabetes mellitus 6 | 1,728

Tissue

Blood and immune system 54 | 16,909
Cardiovascular System 54 | 15,192
Digestive Tract 54 | 17,369
Endocrine System 54 | 18,159
Female tissues 54 | 17,400
Liver and Pancreas 54 | 16,750
Male tissues 54 | 17,142
Nervous System 54 | 16,725
Respiratory system 54 | 16,393
Skin and soft tissues 54 | 17,230
Urinary Tract 54 | 16,678

Target Family

Enzyme 47 | 4,145
Non-IDG 7 | 12,091

Reactome Pathway

Complex I biogenesis 54 | 54
Signal Transduction 2,657 | 2,657
Immune System 2,101 | 2,101
Metabolism of proteins 2,091 | 2,091
Metabolism 2,081 | 2,081
Post-translational protein mod... 1,398 | 1,398
Gene expression (Transcription... 1,369 | 1,369
RNA Polymerase II Transcriptio... 1,228 | 1,228
Signaling by GPCR 1,217 | 1,217
Innate Immune System 1,176 | 1,176
GPCR downstream signalling 1,157 | 1,157
Generic Transcription Pathway 1,108 | 1,108
Developmental Biology 1,026 | 1,026
Adaptive Immune System 892 | 892
Disease 879 | 879
Cytokine Signaling in Immune s... 752 | 752
Metabolism of lipids 739 | 739
Vesicle-mediated transport 720 | 720
Transport of small molecules 717 | 717
Metabolism of RNA 682 | 682
Hemostasis 666 | 666
Membrane Trafficking 608 | 608
Cell Cycle 590 | 590
G alpha (s) signalling events 574 | 574
Neutrophil degranulation 539 | 539
Axon guidance 533 | 533
Cell Cycle, Mitotic 488 | 488
Cellular responses to external... 463 | 463
GPCR ligand binding 459 | 459
Signaling by Interleukins 448 | 448
Class I MHC mediated antigen p... 435 | 435
Signaling by Receptor Tyrosine... 430 | 430
Olfactory Signaling Pathway 428 | 428
Infectious disease 404 | 404
G alpha (i) signalling events 394 | 394
Cellular responses to stress 386 | 386
Signaling by Rho GTPases 386 | 386
Metabolism of amino acids and ... 370 | 370
Diseases of signal transductio... 367 | 367
Neuronal System 367 | 367
Transcriptional Regulation by ... 365 | 365
M Phase 344 | 344
Class A/1 (Rhodopsin-like rece... 322 | 322
Antigen processing: Ubiquitina... 306 | 306
Extracellular matrix organizat... 297 | 297
Translation 297 | 297
Signaling by WNT 293 | 293
Intracellular signaling by sec... 289 | 289
DNA Repair 288 | 288
Asparagine N-linked glycosylat... 287 | 287
MAPK family signaling cascades 285 | 285
Deubiquitination 276 | 276
Interferon Signaling 275 | 275
Immunoregulatory interactions ... 272 | 272
Metabolism of carbohydrates 271 | 271
Cell Cycle Checkpoints 270 | 270
Organelle biogenesis and maint... 261 | 261
PIP3 activates AKT signaling 259 | 259
RHO GTPase Effectors 257 | 257
Platelet activation, signaling... 256 | 256
HIV Infection 254 | 254
MAPK1/MAPK3 signaling 244 | 244
SLC-mediated transmembrane tra... 243 | 243
Processing of Capped Intron-Co... 238 | 238
RAF/MAP kinase cascade 238 | 238
Chromatin modifying enzymes 236 | 236
Chromatin organization 236 | 236
Neddylation 234 | 234
Transmission across Chemical S... 221 | 221
Biological oxidations 220 | 220
Signaling by ROBO receptors 219 | 219
Keratinization 216 | 216
rRNA processing 216 | 216
G alpha (q) signalling events 211 | 211
Cell surface interactions at t... 210 | 210
Phospholipid metabolism 209 | 209
Fc epsilon receptor (FCERI) si... 204 | 204
Transcriptional regulation by ... 203 | 203
Ub-specific processing proteas... 203 | 203
TCF dependent signaling in res... 199 | 199
Muscle contraction 198 | 198
rRNA processing in the nucleus... 192 | 192
Metabolism of vitamins and cof... 188 | 188
Peptide ligand-binding recepto... 188 | 188
mRNA Splicing 187 | 187
Cilium Assembly 186 | 186
Intra-Golgi and retrograde Gol... 186 | 186
Mitotic G2-G2/M phases 184 | 184
Mitotic Metaphase and Anaphase 183 | 183
G2/M Transition 182 | 182
Major pathway of rRNA processi... 182 | 182
Mitotic Anaphase 182 | 182
Mitotic Prometaphase 181 | 181
Fatty acid metabolism 180 | 180
mRNA Splicing - Major Pathway 179 | 179
Ion channel transport 177 | 177
Signaling by the B Cell Recept... 176 | 176
Regulation of expression of SL... 173 | 173
Programmed Cell Death 172 | 172
Interferon gamma signaling 171 | 171
Separation of Sister Chromatid... 170 | 170

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