Development Level

Tbio 4 | 11,445
Tdark 2 | 6,588

IMPC Phenotype

abnormal skin coloration 1 | 25
abnormal spleen morphology 1 | 55

Disease

osteosarcoma 5 | 7,950
Carcinoma 4 | 11,493
ependymoma 3 | 4,679
psoriasis 3 | 6,694
Breast cancer 2 | 3,578
adult high grade glioma 2 | 3,801
atypical teratoid / rhabdoid tumor 2 | 5,112
ductal carcinoma in situ 2 | 1,745
glioblastoma 2 | 5,792
interstitial cystitis 2 | 2,312
intraductal papillary-mucinous adenoma (IPMA) 2 | 2,955
intraductal papillary-mucinous carcinoma (IPMC) 2 | 2,989
Abnormality of metabolism/homeostasis 1 | 134
Abnormality of retinal pigmentation 1 | 111
Abnormality of the hypothalamus-pituitary axis 1 | 12
Absent reflex 1 | 92
Absent tendon reflex 1 | 92
Action Tremor 1 | 22
Amyotrophic lateral sclerosis type 1 1 | 23
Ataxia, Spinocerebellar 1 | 16
Atrophy of cerebellum 1 | 103
Axonal neuropathy 1 | 27
Babinski Reflex 1 | 100
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 1 | 2
Cerebellar degeneration 1 | 103
Chorioretinal dystrophy 1 | 4
Decreased fertility 1 | 33
Decreased tendon reflex 1 | 122
Decreased visual acuity, progressive 1 | 36
Delayed Puberty 1 | 97
Distal amyotrophy 1 | 51
Distal limb muscle weakness due to peripheral neuropathy 1 | 62
Distal lower limb muscle weakness 1 | 6
Distal muscle weakness 1 | 62
Dwarfism 1 | 37
Explosive speech 1 | 9
Gordon Holmes Syndrome 1 | 2
Gynecomastia 1 | 64
Hand deformities 1 | 32
Hemiplegia and hemiparesis 1 | 38
Highly variable clinical phenotype 1 | 150
Highly variable phenotype and severity 1 | 150
Highly variable phenotype, even within families 1 | 150
Hyperreflexia 1 | 209
Hypogonadism, Isolated Hypogonadotropic 1 | 71
Hypogonadotropic hypogonadism 1 | 89
Hypoplasia of scrotum 1 | 24
Infratentorial atrophy 1 | 103
Isolated somatotropin deficiency 1 | 30
Kidney Failure 1 | 111
Klinefelter's syndrome 1 | 56
Lipidoses 1 | 19
Lipoidosis 1 | 19
Long eyebrows 1 | 2
Long eyelashes 1 | 37
Low Birth Weights 1 | 69
Major Depressive Disorder 1 | 301
Motor neuron disease 1 | 49
Nervous System Diseases 1 | 53
Neurodegenerative disease 1 | 414
Neuropathy 1 | 261
Neutral lipid storage disease 1 | 12
Paraplegia 1 | 74
Peripheral Nervous System Diseases 1 | 52
Peripheral Neuropathy 1 | 134
Peripheral axonal neuropathy 1 | 18
Phenotypic variability 1 | 150
Photodysphoria 1 | 121
Photophobia 1 | 121
Pigmentary retinal degeneration 1 | 11
Polyneuropathies 1 | 3
Polyneuropathy 1 | 64
Progressive disorder 1 | 142
Progressive spastic paraplegia 1 | 2
Progressive visual loss 1 | 36
Reflex, Deep Tendon, Absent 1 | 92
Renal Insufficiency 1 | 90
Renal failure in adulthood 1 | 76
Retinal exudates 1 | 11
Retinal pigment epithelial abnormality 1 | 111
Scanning speech 1 | 9
Sengers syndrome 1 | 18
Sensorineural Hearing Loss (disorder) 1 | 284
Sick building syndrome 1 | 8
Small for gestational age (disorder) 1 | 69
Spastic Paraplegia 1 | 42
Spastic Paraplegia, Hereditary 1 | 5
Speech Disorders 1 | 58
Syndactyly of fingers 1 | 48
Terminal tremor 1 | 20
Toxic encephalopathy 1 | 141
Unipolar Depression 1 | 250
breast carcinoma 1 | 1,638
colon cancer 1 | 1,478
fibroadenoma 1 | 559
hereditary spastic paraplegia 1 | 318
lung adenocarcinoma 1 | 2,716
nasopharyngeal carcinoma 1 | 1,058
nervous system disorder 1 | 53
pediatric high grade glioma 1 | 1,064

Tissue

Blood and immune system 6 | 16,909
Cardiovascular System 6 | 15,192
Digestive Tract 6 | 17,369
Endocrine System 6 | 18,159
Female tissues 6 | 17,400
Liver and Pancreas 6 | 16,750
Male tissues 6 | 17,142
Nervous System 6 | 16,725
Respiratory system 6 | 16,393
Skin and soft tissues 6 | 17,230
Urinary Tract 6 | 16,678

Target Family

Enzyme 6 | 4,145

Reactome Pathway

Glycerophospholipid catabolism 6 | 6
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 
Neuropathy target esterase PNPLA6 Tbio Enzyme -2.67941 466.8 159
Patatin-like phospholipase domain-containing protein 7 PNPLA7 Tdark Enzyme -0.71321 5.24 7
Glycerophosphodiester phosphodiesterase 1 GDE1 Tbio Enzyme -1.05500 11.2 131
Lysophospholipase D GDPD1 GDPD1 Tbio Enzyme -0.71878 5.87 96
Glycerophosphodiester phosphodiesterase domain-containing protein 5 GDPD5 Tbio Enzyme -1.19911 17.6 110
Lysophospholipase D GDPD3 GDPD3 Tdark Enzyme -0.38021 3.00 88