Development Level

Tbio 9 | 11,445
Tchem 1 | 1,598

IMPC Phenotype

preweaning lethality, complete... 2 | 979
abnormal lens morphology 1 | 81
abnormal vitreous body morphol... 1 | 10
decreased vertical activity 1 | 208
embryonic lethality prior to o... 1 | 239
embryonic lethality prior to t... 1 | 278
enlarged heart atrium 1 | 4
increased startle reflex 1 | 112

Disease

osteosarcoma 8 | 7,950
Carcinoma 7 | 11,493
Porphyria 7 | 10
Hereditary coproporphyria 6 | 8
Photosensitivity of skin 6 | 51
ovarian cancer 6 | 8,520
Acute intermittent porphyria 5 | 15
Erythropoietic protoporphyria 5 | 15
Variegate Porphyria 5 | 10
lung cancer 5 | 4,740
psoriasis 5 | 6,694
Anemia 4 | 365
Autosomal recessive predisposition 4 | 1,442
Cutaneous porphyria 4 | 6
Hypertrichosis 4 | 46
Porphyria cutanea tarda 4 | 12
Abdominal Pain 3 | 98
Abnormal blistering of the skin 3 | 54
Anemia, Hemolytic 3 | 55
Blister of skin 3 | 54
Constipation 3 | 181
Dyschezia 3 | 135
Elevated heart rate 3 | 25
Epilepsy 3 | 792
Intellectual disability 3 | 1,016
Seizures 3 | 596
Skin bulla 3 | 54
Tachycardia 3 | 43
Thin skin 3 | 47
Vomiting 3 | 116
astrocytic glioma 3 | 2,597
ependymoma 3 | 4,679
group 3 medulloblastoma 3 | 4,104
malignant mesothelioma 3 | 3,232
medulloblastoma, large-cell 3 | 6,241
Abnormal respiratory patterns 2 | 20
Acidosis, Lactic 2 | 97
Alopecia 2 | 115
Anxiety 2 | 136
Anxiety disease 2 | 113
Blepharoptosis 2 | 231
CSF lactate increased 2 | 33
Central nervous system demyelination 2 | 28
Childhood onset 2 | 38
Cholelithiasis 2 | 33
Cognitive delay 2 | 608
Congenital myasthenic syndrome, acetazolamide-responsive 2 | 5
Depressive disorder 2 | 409
Diarrhea 2 | 253
Dull intelligence 2 | 645
Dysarthria 2 | 192
Dystonia 2 | 164
Dystonic disease 2 | 106
Failure to gain weight 2 | 365
Gliosis 2 | 56
Hemoglobin low 2 | 124
Hepatocellular necrosis 2 | 14
Hepatomegaly 2 | 285
Highly variable clinical phenotype 2 | 150
Highly variable phenotype and severity 2 | 150
Highly variable phenotype, even within families 2 | 150
Hyperreflexia 2 | 209
Hypertrophic Cardiomyopathy 2 | 117
Increased hepatocellular carcinoma risk 2 | 27
Increased incidence of hepatocellular carcinoma 2 | 27
Increased serum lactate 2 | 60
Infantile onset 2 | 238
Lactic acidemia 2 | 95
Leigh disease 2 | 100
Leigh syndrome 2 | 28
Liver carcinoma 2 | 240
Mental and motor retardation 2 | 608
Mood swings 2 | 77
Muscle Spasticity 2 | 195
Muscle Weakness 2 | 170
Nausea and vomiting 2 | 97
Neuropathy 2 | 261
Ophthalmoplegia 2 | 106
Pediatric failure to thrive 2 | 365
Peripheral Neuropathy 2 | 134
Phenotypic variability 2 | 150
Pick disease 2 | 1,894
Progressive disorder 2 | 142
Respiratory Failure 2 | 104
Scleroderma 2 | 7
Scleroderma-like secondary cutaneous sclerosis 2 | 7
Sensorineural Hearing Loss (disorder) 2 | 284
Sideroblastic anemia 2 | 20
Sleeplessness 2 | 16
Strabismus 2 | 270
Urine color abnormal 2 | 6
Waldenstrons macroglobulinemia 2 | 765
cytochrome-c oxidase deficiency disease 2 | 19
dermatomyositis 2 | 966
glioblastoma 2 | 5,792
intraductal papillary-mucinous neoplasm (IPMN) 2 | 3,291
lung adenocarcinoma 2 | 2,716
pancreatic ductal adenocarcinoma liver metastasis 2 | 1,962
subependymal giant cell astrocytoma 2 | 2,287
tuberculosis 2 | 2,010

Tissue

Blood and immune system 10 | 16,909
Digestive Tract 10 | 17,369
Endocrine System 10 | 18,159
Female tissues 10 | 17,400
Liver and Pancreas 10 | 16,750
Male tissues 10 | 17,142
Respiratory system 10 | 16,393
Skin and soft tissues 10 | 17,230
Urinary Tract 10 | 16,678
Cardiovascular System 9 | 15,192
Nervous System 9 | 16,725

Target Family

Enzyme 10 | 4,145

Reactome Pathway

Heme biosynthesis 10 | 10
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

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Cytochrome c oxidase assembly protein COX15 homolog COX15 Tbio Enzyme -1.37513 23.0 104
Protoheme IX farnesyltransferase, mitochondrial COX10 Tbio Enzyme -1.60266 40.9 154
5-aminolevulinate synthase, nonspecific, mitochondrial ALAS1 Tbio Enzyme -1.80580 61.7 153
Oxygen-dependent coproporphyrinogen-III oxidase, mitochondrial CPOX Tbio Enzyme -2.05504 112.4 87
Protoporphyrinogen oxidase PPOX Tchem Enzyme -2.47389 296.8 173
Porphobilinogen deaminase HMBS Tbio Enzyme -2.78202 588.5 255
5-aminolevulinate synthase, erythroid-specific, mitochondrial ALAS2 Tbio Enzyme -2.18341 149.7 219
Uroporphyrinogen-III synthase UROS Tbio Enzyme -2.48982 310.9 67
Ferrochelatase, mitochondrial FECH Tbio Enzyme -2.73759 528.2 136
Uroporphyrinogen decarboxylase UROD Tbio Enzyme -2.94694 872.4 188