Development Level

Tbio 16 | 11,445
Tchem 3 | 1,598
Tdark 1 | 6,588

IMPC Phenotype

preweaning lethality, complete... 3 | 979
embryonic lethality prior to o... 2 | 239
abnormal embryo size 1 | 220
abnormal lens morphology 1 | 81
abnormal vitreous body morphol... 1 | 10
decreased body weight 1 | 161
decreased vertical activity 1 | 208
embryonic growth retardation 1 | 106
embryonic lethality prior to t... 1 | 278
enlarged heart atrium 1 | 4
increased startle reflex 1 | 112

Disease

osteosarcoma 15 | 7,950
ovarian cancer 12 | 8,520
Carcinoma 10 | 11,493
Autosomal recessive predisposition 8 | 1,442
Porphyria 8 | 10
psoriasis 8 | 6,694
Anemia 7 | 365
Hereditary coproporphyria 7 | 8
medulloblastoma, large-cell 7 | 6,241
Acute intermittent porphyria 6 | 15
Erythropoietic protoporphyria 6 | 15
Photosensitivity of skin 6 | 51
Variegate Porphyria 6 | 10
lung cancer 6 | 4,740
tuberculosis 6 | 2,010
Porphyria cutanea tarda 5 | 12
malignant mesothelioma 5 | 3,232
Abdominal Pain 4 | 98
Anemia, Hemolytic 4 | 55
Constipation 4 | 181
Cutaneous porphyria 4 | 6
Dyschezia 4 | 135
Epilepsy 4 | 792
Hemoglobin low 4 | 124
Hypertrichosis 4 | 46
Seizures 4 | 596
Sideroblastic anemia 4 | 20
Vomiting 4 | 116
atypical teratoid / rhabdoid tumor 4 | 5,112
glioblastoma 4 | 5,792
lung adenocarcinoma 4 | 2,716
pancreatic ductal adenocarcinoma liver metastasis 4 | 1,962
subependymal giant cell astrocytoma 4 | 2,287
Abnormal blistering of the skin 3 | 54
Blister of skin 3 | 54
Cerebellar Ataxia 3 | 304
Diarrhea 3 | 253
Dysarthria 3 | 192
Elevated heart rate 3 | 25
Failure to gain weight 3 | 365
Hypertensive disease 3 | 292
Hypertrophic Cardiomyopathy 3 | 117
Infantile onset 3 | 238
Intellectual disability 3 | 1,016
Muscle Weakness 3 | 170
Muscle hypotonia 3 | 571
Neuropathy 3 | 261
Nystagmus 3 | 317
Optic Atrophy 3 | 242
Pediatric failure to thrive 3 | 365
Peripheral Neuropathy 3 | 134
Pick disease 3 | 1,894
Respiratory Paralysis 3 | 7
Skin bulla 3 | 54
Tachycardia 3 | 43
Thin skin 3 | 47
Toxic encephalopathy 3 | 141
astrocytic glioma 3 | 2,597
dermatomyositis 3 | 966
ependymoma 3 | 4,679
group 3 medulloblastoma 3 | 4,104
Abnormality of metabolism/homeostasis 2 | 134
Acidosis, Lactic 2 | 97
Alopecia 2 | 115
Anemia, Sideroblastic 2 | 7
Anxiety 2 | 136
Anxiety disease 2 | 113
Blepharoptosis 2 | 231
CSF lactate increased 2 | 33
Cancer 2 | 2,499
Depressive disorder 2 | 409
Dystonia 2 | 164
Dystonic disease 2 | 106
Electrocardiogram abnormal 2 | 81
Gliosis 2 | 56
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
Increased serum lactate 2 | 60
Lactic acidemia 2 | 95
Liver Cirrhosis 2 | 181
Liver carcinoma 2 | 240
Liver diseases 2 | 87
Mood swings 2 | 77
Muscle Spasticity 2 | 195
Nausea and vomiting 2 | 97
Ophthalmoplegia 2 | 106
Paresthesia 2 | 32
Pearson syndrome 2 | 19
Phenotypic variability 2 | 150
Progressive disorder 2 | 142
Psychotic Disorders 2 | 151
Respiratory Failure 2 | 104
Sensorineural Hearing Loss (disorder) 2 | 284
Strabismus 2 | 270
Waldenstrons macroglobulinemia 2 | 765
adrenocortical carcinoma 2 | 1,428
breast carcinoma 2 | 1,638

Tissue

Blood and immune system 19 | 16,909
Digestive Tract 19 | 17,369
Endocrine System 19 | 18,159
Female tissues 19 | 17,400
Liver and Pancreas 19 | 16,750
Male tissues 19 | 17,142
Respiratory system 19 | 16,393
Skin and soft tissues 19 | 17,230
Urinary Tract 19 | 16,678
Cardiovascular System 18 | 15,192
Nervous System 18 | 16,725

Target Family

Enzyme 13 | 4,145
Non-IDG 3 | 12,091
Transporter 3 | 473
Transcription Factor 1 | 1,400

GO Process

heme biosynthetic process 20 | 20
transcription, DNA-templated 1,742 | 1,742
regulation of transcription, D... 1,135 | 1,135
G-protein coupled receptor sig... 1,053 | 1,053
signal transduction 1,005 | 1,005
positive regulation of transcr... 932 | 932
negative regulation of transcr... 683 | 683
positive regulation of transcr... 529 | 529
apoptotic process 511 | 511
cell differentiation 511 | 511
negative regulation of transcr... 492 | 492
neutrophil degranulation 484 | 484
negative regulation of apoptot... 479 | 479
positive regulation of cell pr... 470 | 470
innate immune response 469 | 469
multicellular organism develop... 460 | 460
cell adhesion 458 | 458
immune response 426 | 426
viral process 405 | 405
negative regulation of cell pr... 398 | 398
spermatogenesis 389 | 389
intracellular signal transduct... 376 | 376
inflammatory response 373 | 373
cell proliferation 366 | 366
post-translational protein mod... 356 | 356
protein transport 348 | 348
protein ubiquitination 347 | 347
cell division 345 | 345
regulation of transcription fr... 345 | 345
protein phosphorylation 334 | 334
nervous system development 321 | 321
positive regulation of apoptot... 320 | 320
response to drug 303 | 303
cell-cell signaling 300 | 300
positive regulation of gene ex... 297 | 297
transcription from RNA polymer... 286 | 286
protein deubiquitination 271 | 271
cell cycle 268 | 268
regulation of immune response 259 | 259
transport 255 | 255
regulation of apoptotic proces... 250 | 250
MAPK cascade 242 | 242
cell surface receptor signalin... 239 | 239
mRNA splicing, via spliceosome 236 | 236
protein polyubiquitination 222 | 222
angiogenesis 220 | 220
chemical synaptic transmission 219 | 219
cellular response to DNA damag... 217 | 217
proteolysis 217 | 217
proteasome-mediated ubiquitin-... 210 | 210
adaptive immune response 209 | 209
intracellular protein transpor... 209 | 209
DNA repair 206 | 206
leukocyte migration 206 | 206
protein homooligomerization 206 | 206
rRNA processing 204 | 204
extracellular matrix organizat... 198 | 198
visual perception 198 | 198
positive regulation of ERK1 an... 194 | 194
cellular protein metabolic pro... 192 | 192
brain development 188 | 188
axon guidance 186 | 186
Fc-epsilon receptor signaling ... 182 | 182
keratinization 182 | 182
cell migration 181 | 181
defense response to virus 181 | 181
positive regulation of cell mi... 179 | 179
regulation of cell proliferati... 177 | 177
in utero embryonic development 176 | 176
Wnt signaling pathway 175 | 175
cilium assembly 175 | 175
blood coagulation 170 | 170
RNA splicing 169 | 169
translation 169 | 169
mRNA processing 168 | 168
protein autophosphorylation 168 | 168
aging 167 | 167
response to hypoxia 166 | 166
T cell receptor signaling path... 164 | 164
heart development 164 | 164
negative regulation of canonic... 164 | 164
positive regulation of I-kappa... 164 | 164
ubiquitin-dependent protein ca... 164 | 164
ER to Golgi vesicle-mediated t... 162 | 162
protein stabilization 160 | 160
response to lipopolysaccharide 160 | 160
transcription initiation from ... 160 | 160
defense response to bacterium 159 | 159
protein folding 159 | 159
sensory perception of smell 157 | 157
homophilic cell adhesion via p... 156 | 156
transmembrane transport 154 | 154
negative regulation of gene ex... 151 | 151
interferon-gamma-mediated sign... 150 | 150
receptor-mediated endocytosis 150 | 150
ion transmembrane transport 148 | 148
peptidyl-serine phosphorylatio... 148 | 148
positive regulation of protein... 148 | 148
antigen processing and present... 143 | 143
DNA replication 142 | 142
cell cycle arrest 142 | 142

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
Solute carrier family 25 member 39 SLC25A39 Tbio Transporter -0.44053 3.17 27
Natural resistance-associated macrophage protein 2 SLC11A2 Tchem Transporter -2.53965 373.5 250
Porphobilinogen deaminase HMBS Tbio Enzyme -2.78202 588.5 255
Frataxin, mitochondrial FXN Tbio Non-IDG -3.02739 1114.8 403
5-aminolevulinate synthase, erythroid-specific, mitochondrial ALAS2 Tbio Enzyme -2.18341 149.7 219