Development Level

Tbio 14 | 11,445
Tdark 4 | 6,588

IMPC Phenotype

decreased vertical activity 2 | 208
embryonic lethality prior to t... 2 | 278
enlarged heart 2 | 210
abnormal embryo size 1 | 220
abnormal heart morphology 1 | 162
abnormal liver morphology 1 | 17
abnormal pericardium morpholog... 1 | 26
abnormal retina morphology 1 | 71
abnormal spleen morphology 1 | 55
cardiovascular system phenotyp... 1 | 36
decreased basophil cell number 1 | 16
decreased eosinophil cell numb... 1 | 24
decreased heart rate variabili... 1 | 13
edema 1 | 59
enlarged spleen 1 | 41
hydrometra 1 | 53
increased or absent threshold ... 1 | 101
prenatal lethality prior to he... 1 | 87

Disease

Carcinoma 11 | 11,493
osteosarcoma 8 | 7,950
psoriasis 8 | 6,694
Erythrokeratodermia variabilis 7 | 10
adult high grade glioma 7 | 3,801
ovarian cancer 7 | 8,520
Oculodentodigital dysplasia 6 | 14
interstitial cystitis 6 | 2,312
non-small cell lung cancer 6 | 2,890
lung adenocarcinoma 5 | 2,716
medulloblastoma, large-cell 5 | 6,241
Cataract 4 | 297
Clouston syndrome 4 | 9
Deafness, autosomal recessive 1A 4 | 4
Nonsyndromic deafness 4 | 142
Palmoplantar keratosis 4 | 74
Sensorineural hearing loss 4 | 106
intraductal papillary-mucinous neoplasm (IPMN) 4 | 3,291
ulcerative colitis 4 | 1,819
Alopecia 3 | 115
Autosomal recessive predisposition 3 | 1,442
Bart-Pumphrey syndrome 3 | 4
Breast cancer 3 | 3,578
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) 3 | 3
Deafness 3 | 198
Enlarged vestibular aqueduct 3 | 10
Erythema 3 | 58
Flushing 3 | 60
Hyperkeratosis, generalized 3 | 14
Hypertension 3 | 396
Hypertensive disease 3 | 292
Lens Opacities 3 | 231
Neuropathy 3 | 261
Schizophrenia 3 | 1,160
Sensorineural Hearing Loss (disorder) 3 | 284
Small head 3 | 374
X- linked recessive 3 | 110
ependymoma 3 | 4,679
group 3 medulloblastoma 3 | 4,104
intraductal papillary-mucinous carcinoma (IPMC) 3 | 2,989
invasive ductal carcinoma 3 | 2,951
lung cancer 3 | 4,740
pancreatic cancer 3 | 2,398
primitive neuroectodermal tumor 3 | 3,035
spina bifida 3 | 1,074
subependymal giant cell astrocytoma 3 | 2,287
Absence of eyebrows 2 | 31
Aplasia/Hypoplasia of the eyebrow 2 | 31
Autistic Disorder 2 | 364
Broad thumbs 2 | 28
Bulbous nasal tip 2 | 48
Bulbous nose 2 | 48
Cataract, Pulverulent 2 | 11
Cellulitis 2 | 20
Charcot-Marie-Tooth disease 2 | 62
Conductive hearing loss 2 | 123
Congenital deafness 2 | 185
Congenital pes cavus 2 | 88
Discordant ventriculoarterial connection 2 | 17
Dystrophia unguium 2 | 53
Enophthalmos 2 | 75
Fine hair 2 | 42
Frontal bossing 2 | 157
Hearing Loss, Partial 2 | 185
Hypohidrosis 2 | 34
Hypoplastic fingernails 2 | 11
Hypoplastic toenails 2 | 22
Ichthyoses 2 | 41
Ichthyosis 2 | 56
Infantile onset 2 | 238
Isolated cases 2 | 72
Keratitis 2 | 62
Keratoconjunctivitis sicca 2 | 25
Leukokeratosis 2 | 19
Leukoplakia, Oral 2 | 20
Low Vision 2 | 174
Lymphedema 2 | 42
Lytic lesion 2 | 32
MEDNIK syndrome 2 | 8
Microphthalmia 2 | 76
Myopia 2 | 176
Nail dysplasia 2 | 52
Nuclear cataract 2 | 19
Nuclear non-senile cataract 2 | 18
Orchitis 2 | 28
Photodysphoria 2 | 121
Photophobia 2 | 121
Potato nose 2 | 48
Sinoatrial node disease 2 | 5
Skin Ulcer 2 | 48
Skin disease 2 | 66
Sparse hair 2 | 59
Sparse or absent eyebrows 2 | 31
Sparse/absent eyebrows 2 | 31
Sunken eyes 2 | 63
Thin, sparse hair 2 | 59
Visual Impairment 2 | 174
cataract 2 multiple types 2 | 9
facioscapulohumeral dystrophy 2 | 288
hearing impairment 2 | 199

Tissue

Endocrine System 18 | 18,159
Urinary Tract 17 | 16,678
Female tissues 16 | 17,400
Digestive Tract 15 | 17,369
Liver and Pancreas 15 | 16,750
Skin and soft tissues 15 | 17,230
Blood and immune system 14 | 16,909
Male tissues 14 | 17,142
Nervous System 14 | 16,725
Respiratory system 12 | 16,393
Cardiovascular System 11 | 15,192

Target Family

Non-IDG 18 | 12,091

Reactome Pathway

Gap junction assembly 18 | 18
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 
Gap junction delta-2 protein GJD2 Tbio Non-IDG -2.48933 326.9 192
Gap junction alpha-3 protein GJA3 Tbio Non-IDG -2.14059 135.1 171
Gap junction alpha-8 protein GJA8 Tbio Non-IDG -2.81282 660.2 196
Gap junction alpha-4 protein GJA4 Tbio Non-IDG -2.27043 180.6 231
Gap junction alpha-5 protein GJA5 Tbio Non-IDG -2.59423 377.5 194
Gap junction beta-2 protein GJB2 Tbio Non-IDG -3.17642 1514.7 242
Gap junction beta-3 protein GJB3 Tbio Non-IDG -2.13572 133.9 212
Gap junction alpha-10 protein GJA10 Tdark Non-IDG 0.15 0.90 51
Gap junction beta-1 protein GJB1 Tbio Non-IDG -2.93115 861.6 295
Gap junction beta-5 protein GJB5 Tbio Non-IDG -1.17560 15.2 110