Development Level

Tbio 2 | 11,651

IMPC Phenotype

preweaning lethality, incomple... 1 | 499

Disease

Carcinoma 2 | 11,493
Abnormal vision 1 | 52
Addison Disease 1 | 18
Adrenal cortical hypofunction 1 | 23
Adrenoleukodystrophy 1 | 29
Atrophy of corpus callosum 1 | 4
Bifunctional peroxisomal enzyme deficiency 1 | 3
Big calvaria 1 | 147
Calcific stippling 1 | 2
Cerebellar hypoplasia and atrophy 1 | 41
Cholestasis 1 | 155
Chondrodysplasia punctata 1 | 41
Claw hand 1 | 26
Concave bridge of nose 1 | 195
Congenital anomaly of face 1 | 56
Congenital clubfoot 1 | 109
Congenital pes cavus 1 | 88
Cortical Dysplasia 1 | 13
Cystic kidney 1 | 30
D-bifunctional protein deficiency 1 | 3
Decreased muscle mass 1 | 28
Depressed nasal root/bridge 1 | 195
Dilated ventricles (finding) 1 | 121
Distortion of face 1 | 46
Dysmorphic facies 1 | 46
Dysmyelination of the brain 1 | 6
Elevated gonadotropins 1 | 15
Elevated hepatic transaminases 1 | 81
Extinguished electroretinogram 1 | 15
Fetal ascites 1 | 3
Frontal bossing 1 | 157
Funny looking face 1 | 46
Gait Ataxia 1 | 51
Generalized cerebral atrophy/hypoplasia 1 | 1
Generalized osteopenia 1 | 99
Gliosis 1 | 56
Gonadal Dysgenesis 1 | 28
Gonadal Dysgenesis, Mixed 1 | 19
Gonadal dysgenesis XX type deafness 1 | 5
Hammer Toe 1 | 23
Hepatic enzyme increased 1 | 81
High forehead 1 | 102
Highly variable clinical phenotype 1 | 150
Highly variable phenotype and severity 1 | 150
Highly variable phenotype, even within families 1 | 150
Hypoplasia of corpus callosum 1 | 90
Increased head circumference 1 | 147
Increased size of cranium 1 | 147
Increased size of skull 1 | 147
Infantile Refsum disease 1 | 23
Infantile onset 1 | 238
Large bregma sutures 1 | 46
Large fontanelle 1 | 46
Large, late-closing fontanelle 1 | 46
Late fontanel closure 1 | 28
Limited extraocular movements 1 | 2
Liver Dysfunction 1 | 99
Liver enzymes abnormal 1 | 81
Liver function test increased 1 | 81
Liver function tests abnormal finding 1 | 81
Long narrow head 1 | 75
Long philtrum 1 | 137
Low Vision 1 | 174
Narrow cranium shape 1 | 75
Narrow head shape 1 | 75
Narrow skull shape 1 | 75
Neonatal Hypotonia 1 | 64
Neonatal adrenoleukodystrophy 1 | 14
Osteopenia 1 | 99
Osteoporosis 1 | 363
Pectus excavatum 1 | 100
Pediatric failure to thrive 1 | 365
Peroxisomal Disorders 1 | 2
Peroxisomal acyl-CoA oxidase deficiency 1 | 4
Perrault syndrome 1 | 19
Phenotypic variability 1 | 150
Polyhydramnios 1 | 108
Polymicrogyria 1 | 48
Premature ovarian failure 1 | 65
Primary physiologic amenorrhea 1 | 55
Pure gonadal dysgenesis 1 | 19
Refsum disease 1 | 20
Renal cyst 1 | 30
Retrognathia 1 | 54
Sensorineural Hearing Loss (disorder) 1 | 284
Sensorineural hearing loss 1 | 106
Spasms, Infantile 1 | 6
Steatohepatitis 1 | 44
Subclinical abnormal liver function tests 1 | 81
Tall forehead 1 | 102
Thoracic hypoplasia 1 | 14
Transaminases increased 1 | 81
Turridolichocephaly 1 | 75
Visual Impairment 1 | 174
West Syndrome 1 | 28
White matter dysmyelination/demyelination 1 | 6
Wide bregma sutures 1 | 46
Zellweger syndrome 1 | 37
alpha-methylacyl-CoA racemase deficiency 1 | 9
facial deformity 1 | 46

Tissue

Digestive Tract 2 | 17,369
Endocrine System 2 | 18,159
Liver and Pancreas 2 | 16,750
Male tissues 2 | 17,142
Nervous System 2 | 16,725
Skin and soft tissues 2 | 17,230
Urinary Tract 2 | 16,678
Blood and immune system 1 | 16,909
Cardiovascular System 1 | 15,192
Female tissues 1 | 17,400
Respiratory system 1 | 16,393

Target Family

Enzyme 1 | 4,145
Non-IDG 1 | 12,091

GO Process

medium-chain fatty-acyl-CoA me... 2 | 2
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 
Peroxisomal multifunctional enzyme type 2 HSD17B4 Tbio Non-IDG -2.17283 152.2 275
Acyl-coenzyme A synthetase ACSM2A, mitochondrial ACSM2A Tbio Enzyme -2.11752 121.7 60