Development Level

Tbio 16 | 11,445

IMPC Phenotype

preweaning lethality, complete... 2 | 979
abnormal craniofacial morpholo... 1 | 33
abnormal embryo size 1 | 220
abnormal epididymis morphology 1 | 42
abnormal eye morphology 1 | 68
abnormal heart morphology 1 | 162
abnormal lung morphology 1 | 26
anophthalmia 1 | 33
decreased fasted circulating g... 1 | 65
edema 1 | 59
embryonic lethality prior to o... 1 | 239
embryonic lethality prior to t... 1 | 278
enlarged lymph nodes 1 | 37
hyperactivity 1 | 148
hypoactivity 1 | 132
increased blood urea nitrogen ... 1 | 48
increased bone mineral density 1 | 72
increased fasted circulating g... 1 | 76
increased mean corpuscular hem... 1 | 96
pallor 1 | 34
prenatal lethality prior to he... 1 | 87
preweaning lethality, incomple... 1 | 499
small kidney 1 | 16

Disease

Autosomal recessive predisposition 12 | 1,442
Carcinoma 12 | 11,493
Vitamin B12 deficiency 10 | 20
Methylmalonic acidemia 9 | 37
osteosarcoma 9 | 7,950
pancreatic ductal adenocarcinoma liver metastasis 9 | 1,962
Anemia 8 | 365
Cognitive delay 8 | 608
Dull intelligence 8 | 645
Failure to gain weight 8 | 365
Global developmental delay 8 | 608
Intellectual disability 8 | 1,016
Low intelligence 8 | 645
Mental Retardation 8 | 645
Mental and motor retardation 8 | 608
Mental deficiency 8 | 645
Pediatric failure to thrive 8 | 365
Poor school performance 8 | 645
ovarian cancer 8 | 8,520
Anemia, Megaloblastic 7 | 16
Epilepsy 7 | 792
Lethargy 7 | 77
Seizures 7 | 596
Cerebral atrophy 6 | 178
Homocystinuria 6 | 21
Muscle hypotonia 6 | 571
lung cancer 6 | 4,740
Decreased platelet count 5 | 111
Kidney cancer 5 | 2,613
Methylmalonic aciduria 5 | 9
Thrombocytopenia 5 | 197
medulloblastoma, large-cell 5 | 6,241
psoriasis 5 | 6,694
Cleft Lip 4 | 141
Decreased methionine synthase activity 4 | 4
Decreased methylcobalamin 4 | 4
Degenerative brain disorder 4 | 100
Dystonia 4 | 164
Dystonic disease 4 | 106
Feeding difficulties in infancy 4 | 175
Hepatomegaly 4 | 285
Hyperhomocysteinemia 4 | 37
Hyperhomocystinemia 4 | 6
Hypomethioninemia 4 | 4
Infantile onset 4 | 238
Megaloblastic anemia 4 | 18
Metabolic acidosis 4 | 90
Neutrophil count decreased 4 | 47
Propionic acidemia 4 | 16
Supratentorial atrophy 4 | 94
Vomiting 4 | 116
intraductal papillary-mucinous adenoma (IPMA) 4 | 2,955
3-Methylcrotonyl-CoA carboxylase deficiency 3 | 11
3-methylglutaconic aciduria type 1 3 | 7
Acidosis, Lactic 3 | 97
Adverse reaction to drug 3 | 61
Anorexia 3 | 43
Biotinidase deficiency 3 | 14
Bone marrow megaloblastic (finding) 3 | 3
Breast cancer 3 | 3,578
Cardiomyopathies 3 | 110
Comatose 3 | 56
Dehydration 3 | 40
Drug-Related Side Effects and Adverse Reactions 3 | 62
Gait abnormality 3 | 135
Hemoglobin low 3 | 124
Hyperammonemia 3 | 30
Hyperglycinemia 3 | 6
Hypoglycemia 3 | 152
Lactic acidemia 3 | 95
Nystagmus 3 | 317
Pancreatitis 3 | 123
Pancytopenia 3 | 45
Proteinuria 3 | 144
atypical teratoid / rhabdoid tumor 3 | 5,112
glioblastoma 3 | 5,792
interstitial cystitis 3 | 2,312
intraductal papillary-mucinous neoplasm (IPMN) 3 | 3,291
lung adenocarcinoma 3 | 2,716
non-small cell lung cancer 3 | 2,890
Abnormality of immune system physiology 2 | 16
Adenoma 2 | 167
Cancer 2 | 2,499
Cardiac Arrhythmia 2 | 103
Conduction disorder of the heart 2 | 79
Constipation 2 | 181
Dementia 2 | 175
Disease of metabolism 2 | 18
Down syndrome 2 | 499
Dyschezia 2 | 135
Electrocardiogram abnormal 2 | 81
Infertility, Male 2 | 46
Isovaleric acidemia 2 | 15
Leukoencephalopathies 2 | 29
Liver cancer 2 | 604
Male infertility 2 | 206
Osteoporosis 2 | 363
active Crohn's disease 2 | 922
adrenocortical carcinoma 2 | 1,428
breast carcinoma 2 | 1,638

Tissue

Blood and immune system 16 | 16,909
Digestive Tract 16 | 17,369
Endocrine System 16 | 18,159
Female tissues 16 | 17,400
Liver and Pancreas 16 | 16,750
Male tissues 16 | 17,142
Nervous System 16 | 16,725
Skin and soft tissues 16 | 17,230
Urinary Tract 16 | 16,678
Respiratory system 15 | 16,393
Cardiovascular System 14 | 15,192

Target Family

Enzyme 8 | 4,145
Non-IDG 8 | 12,091

Reactome Pathway

Defects in vitamin and cofacto... 16 | 16
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 
Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial MCCC1 Tbio Enzyme -1.91194 82.4 102
Methylcrotonoyl-CoA carboxylase beta chain, mitochondrial MCCC2 Tbio Enzyme -1.24396 15.5 189
Methionine synthase MTR Tbio Enzyme -2.56900 300.2 87
Methylmalonic aciduria type A protein, mitochondrial MMAA Tbio Non-IDG -2.22747 160.8 90
Methylmalonic aciduria and homocystinuria type C protein MMACHC Tbio Non-IDG -1.83573 76.5 233
Methylmalonyl-CoA mutase, mitochondrial MUT Tbio Enzyme -2.51690 305.3 99
CD320 antigen CD320 Tbio Non-IDG -1.51819 33.4 107
Methionine synthase reductase MTRR Tbio Enzyme -2.46986 307.5 53
Pyruvate carboxylase, mitochondrial PC Tbio Enzyme -2.57922 361.7 238
Protein amnionless AMN Tbio Non-IDG -1.36104 18.1 35