Development Level

Tclin 48 | 613
Tbio 40 | 11,445
Tdark 9 | 6,588
Tchem 3 | 1,598

IMPC Phenotype

preweaning lethality, complete... 22 | 979
embryonic lethality prior to o... 7 | 239
abnormal embryo size 4 | 220
embryonic lethality prior to t... 4 | 278
pallor 4 | 34
cataract 3 | 92
prenatal lethality prior to he... 3 | 87
abnormal behavior 2 | 298
abnormal lens morphology 2 | 81
abnormal placenta size 2 | 20
abnormal skin coloration 2 | 25
embryonic growth retardation 2 | 106
increased circulating phosphat... 2 | 26
abnormal allantois morphology 1 | 8
abnormal chorioallantoic fusio... 1 | 8
abnormal embryo development 1 | 7
abnormal embryo turning 1 | 31
abnormal embryonic autopod pla... 1 | 2
abnormal heart morphology 1 | 162
abnormal hindbrain development 1 | 16
abnormal kidney morphology 1 | 65
abnormal limb bud morphology 1 | 17
abnormal liver size 1 | 5
abnormal lung morphology 1 | 26
abnormal midbrain development 1 | 20
abnormal neural tube closure 1 | 46
abnormal neural tube morpholog... 1 | 12
abnormal placenta development 1 | 1
abnormal placenta morphology 1 | 5
abnormal retinal blood vessel ... 1 | 26
abnormal retinal vasculature m... 1 | 27
abnormal stomach morphology 1 | 10
abnormal tail movements 1 | 12
abnormal visceral yolk sac mor... 1 | 6
abnormal vitelline vasculature... 1 | 6
decreased bone mineral content 1 | 151
decreased circulating chloride... 1 | 30
decreased circulating choleste... 1 | 93
decreased circulating creatini... 1 | 39
decreased circulating phosphat... 1 | 27
decreased circulating triglyce... 1 | 79
decreased erythrocyte cell num... 1 | 62
decreased lactate dehydrogenas... 1 | 16
decreased lean body mass 1 | 135
decreased total retina thickne... 1 | 17
decreased vertical activity 1 | 208
hemorrhage 1 | 23
hyperactivity 1 | 148
hypoactivity 1 | 132
increased body weight 1 | 25
increased bone mineral content 1 | 108
increased circulating alkaline... 1 | 122
increased circulating calcium ... 1 | 34
increased circulating glucose ... 1 | 24
increased circulating sodium l... 1 | 71
increased fasted circulating g... 1 | 76
increased grip strength 1 | 41
increased heart weight 1 | 62
increased lean body mass 1 | 172
increased mean corpuscular hem... 1 | 96
increased startle reflex 1 | 112
pale liver 1 | 6
pale yolk sac 1 | 25
prenatal lethality 1 | 28
thrombocytopenia 1 | 56

Disease

ovarian cancer 63 | 8,520
Diabetes mellitus type 2 48 | 69
Treatment Refractory Type 2 Diabetes Mellitus 48 | 53
Multiple myeloma 41 | 1,332
Leigh disease 40 | 100
Mitochondrial complex I deficiency 37 | 46
Cerebellar Ataxia 36 | 304
osteosarcoma 34 | 7,950
Acidosis, Lactic 33 | 97
Autosomal recessive predisposition 33 | 1,442
Lactic acidemia 33 | 95
Blepharoptosis 30 | 231
pancreatic ductal adenocarcinoma liver metastasis 30 | 1,962
Cognitive delay 29 | 608
Global developmental delay 29 | 608
Mental and motor retardation 29 | 608
Sensorineural Hearing Loss (disorder) 29 | 284
Muscle hypotonia 28 | 571
Mitochondrial Complex 1 Deficiency 26 | 28
Epilepsy 25 | 792
Muscle Weakness 25 | 170
CSF lactate increased 24 | 33
Failure to gain weight 24 | 365
Increased serum lactate 24 | 60
Pediatric failure to thrive 24 | 365
Seizures 24 | 596
Carcinoma 23 | 11,493
NADH:Q(1) Oxidoreductase deficiency 23 | 24
Developmental regression 22 | 95
Loss of developmental milestones 22 | 95
Mental deterioration in childhood 22 | 95
Neurodevelopmental regression 22 | 95
Psychomotor regression 22 | 95
Psychomotor regression beginning in infancy 22 | 95
Psychomotor regression in infants 22 | 95
Psychomotor regression, progressive 22 | 95
astrocytic glioma 22 | 2,597
lung cancer 22 | 4,740
psoriasis 22 | 6,694
Hyperreflexia 21 | 209
Nystagmus 21 | 317
Strabismus 21 | 270
medulloblastoma, large-cell 21 | 6,241
Highly variable clinical phenotype 20 | 150
Highly variable phenotype and severity 20 | 150
Highly variable phenotype, even within families 20 | 150
Leigh syndrome 20 | 28
Muscle Spasticity 20 | 195
Optic Atrophy 20 | 242
Phenotypic variability 20 | 150
Abnormal mitochondria in muscle tissue 19 | 20
Hypertrophic Cardiomyopathy 19 | 117
Hypoglycemia 19 | 152
Respiratory Failure 19 | 104
glioblastoma 19 | 5,792
Dystonia 18 | 164
Impaired exercise tolerance 18 | 42
ependymoma 18 | 4,679
Dystonic disease 17 | 106
Ophthalmoplegia 17 | 106
Vomiting 16 | 116
Babinski Reflex 15 | 100
Dull intelligence 15 | 645
Intellectual disability 15 | 1,016
Low intelligence 15 | 645
Mental Retardation 15 | 645
Mental deficiency 15 | 645
Poor school performance 15 | 645
X-linked dominant 15 | 57
atypical teratoid / rhabdoid tumor 15 | 5,112
Decreased tendon reflex 14 | 122
Feeding difficulties in infancy 14 | 175
Retinitis Pigmentosa 14 | 226
Acute necrotizing encephalopathy 13 | 14
Atrophy of cerebellum 13 | 103
Blind Vision 13 | 111
Blindness, Legal 13 | 110
Brain Edema 13 | 50
Cerebellar degeneration 13 | 103
Cerebral Edema 13 | 30
Comatose 13 | 56
Growth delay 13 | 114
Growth failure 13 | 114
Growth retardation 13 | 115
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
intraductal papillary-mucinous neoplasm (IPMN) 13 | 3,291
muscle degeneration 13 | 139
Congenital cataract 12 | 50
Gliosis 12 | 56
diabetes mellitus 12 | 1,728

Tissue

Blood and immune system 100 | 16,909
Cardiovascular System 100 | 15,192
Digestive Tract 100 | 17,369
Endocrine System 100 | 18,159
Female tissues 100 | 17,400
Liver and Pancreas 100 | 16,750
Male tissues 100 | 17,142
Nervous System 100 | 16,725
Respiratory system 100 | 16,393
Skin and soft tissues 100 | 17,230
Urinary Tract 100 | 16,678

Target Family

Enzyme 74 | 4,145
Non-IDG 26 | 12,091

Reactome Pathway

Respiratory electron transport 100 | 100
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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