Development Level

Tbio 5 | 11,445
Tchem 1 | 1,598

IMPC Phenotype

preweaning lethality, complete... 2 | 979
abnormal behavior 1 | 298
abnormal bone mineralization 1 | 38
abnormal head morphology 1 | 10
abnormal optic disc morphology 1 | 10
abnormal retina morphology 1 | 71
abnormal startle reflex 1 | 15
abnormal tooth morphology 1 | 24
corneal opacity 1 | 32
embryonic lethality prior to o... 1 | 239
embryonic lethality prior to t... 1 | 278
enlarged heart 1 | 210
increased bone mineral density 1 | 72
increased circulating potassiu... 1 | 29
increased startle reflex 1 | 112
increased total body fat amoun... 1 | 134
irregularly shaped pupil 1 | 7
mammalian phenotype 1 | 17
prenatal lethality 1 | 28
small testis 1 | 58

Disease

Autosomal recessive predisposition 5 | 1,442
Carcinoma 5 | 11,493
Dull intelligence 5 | 645
Intellectual disability 5 | 1,016
Low intelligence 5 | 645
Mental Retardation 5 | 645
Mental deficiency 5 | 645
Poor school performance 5 | 645
lung cancer 5 | 4,740
Melanoma 4 | 711
Strabismus 4 | 270
medulloblastoma, large-cell 4 | 6,241
Brittle hair 3 | 25
Broad flat nasal bridge 3 | 236
Cataract 3 | 297
Cognitive delay 3 | 608
Congenital Nonbullous Ichthyosiform Erythroderma 3 | 16
Congenital deafness 3 | 185
Deafness 3 | 198
Dental abnormalities 3 | 60
Failure to gain weight 3 | 365
Fractured hair 3 | 25
Fragile hair 3 | 25
Global developmental delay 3 | 608
Hearing Loss, Partial 3 | 185
Hypogonadism 3 | 173
Lens Opacities 3 | 231
Mental and motor retardation 3 | 608
Nasal bridge wide 3 | 236
Optic Atrophy 3 | 242
Pediatric failure to thrive 3 | 365
Prostatic Neoplasms 3 | 495
Reduced tensile strength of hair 3 | 25
Sensorineural Hearing Loss (disorder) 3 | 284
Small head 3 | 374
Tooth Abnormalities 3 | 69
hearing impairment 3 | 199
ovarian cancer 3 | 8,520
pancreatic cancer 3 | 2,398
psoriasis 3 | 6,694
Abnormality of retinal pigmentation 2 | 111
Arthralgia 2 | 90
Basal cell carcinoma 2 | 54
Cachexia 2 | 50
Cancer 2 | 2,499
Cockayne syndrome 2 | 60
Colorectal Neoplasms 2 | 243
Congenital anomaly of face 2 | 56
Conjunctival telangiectasis 2 | 14
Craniofacial Abnormalities 2 | 151
DOID:9917 2 | 31
Developmental regression 2 | 95
Dry skin 2 | 75
Electroencephalogram abnormal 2 | 101
Endometrial cancer 2 | 311
Epilepsy 2 | 792
Erythema 2 | 58
Fatigue 2 | 182
Fever 2 | 138
Flushing 2 | 60
Freckles 2 | 33
Glaucoma 2 | 239
Hyperkeratosis 2 | 50
Hyperpigmented macules 2 | 42
Impaired cognition 2 | 96
Keratitis 2 | 62
Large intestine cancer 2 | 126
Liver cancer 2 | 604
Loss of developmental milestones 2 | 95
Low Vision 2 | 174
Lymphoid leukemia 2 | 160
Malabsorption 2 | 82
Mental deterioration in childhood 2 | 95
Mental impairment 2 | 95
Muscle Spasticity 2 | 195
Neurodevelopmental regression 2 | 95
Photodysphoria 2 | 121
Photophobia 2 | 121
Pigmentary iris degeneration 2 | 20
Progressive mental retardation 2 | 37
Psychomotor regression 2 | 95
Psychomotor regression beginning in infancy 2 | 95
Psychomotor regression in infants 2 | 95
Psychomotor regression, progressive 2 | 95
Reactive airway disease 2 | 21
Recurrent infections 2 | 48
Retinal Diseases 2 | 55
Retinal pigment epithelial abnormality 2 | 111
Seizures 2 | 596
Skin cancer 2 | 469
Stomach Neoplasms 2 | 300
Telangiectasia of the skin 2 | 39
Thin skin 2 | 47
Thin upper lip vermilion 2 | 67
Visual Impairment 2 | 174
Xerosis 2 | 75
hypopigmented skin patch 2 | 59
pituitary cancer 2 | 1,972
sonic hedgehog group medulloblastoma 2 | 467
spina bifida 2 | 1,074

Tissue

Cardiovascular System 5 | 15,192
Endocrine System 5 | 18,159
Liver and Pancreas 5 | 16,750
Male tissues 5 | 17,142
Urinary Tract 5 | 16,678
Digestive Tract 4 | 17,369
Female tissues 4 | 17,400
Skin and soft tissues 4 | 17,230
Blood and immune system 3 | 16,909
Nervous System 3 | 16,725
Respiratory system 3 | 16,393

Target Family

Enzyme 3 | 4,145
Non-IDG 2 | 12,091
Transcription Factor 1 | 1,400

GO Process

hair cell differentiation 6 | 6
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 
Usherin USH2A Tbio Non-IDG -2.45871 284.8 38
TFIIH basal transcription factor complex helicase XPD subunit ERCC2 Tbio Enzyme -2.58326 365.8 191
Pituitary homeobox 2 PITX2 Tbio Transcription Factor -2.67290 480.0 220
Catenin beta-1 CTNNB1 Tchem Non-IDG -3.99948 9786.0 3058
TFIIH basal transcription factor complex helicase XPB subunit ERCC3 Tbio Enzyme -1.96419 91.4 163
Serine protease inhibitor Kazal-type 5 SPINK5 Tbio Enzyme -2.70647 498.0 135