Development Level

Tbio 11 | 11,445
Tclin 1 | 613

IMPC Phenotype

abnormal coat-hair pigmentatio... 2 | 64
abnormal behavior 1 | 298
abnormal heart morphology 1 | 162
abnormal skin morphology 1 | 50
decreased blood urea nitrogen ... 1 | 51
enlarged heart 1 | 210
hyperactivity 1 | 148
increased startle reflex 1 | 112

Disease

Carcinoma 9 | 11,493
psoriasis 8 | 6,694
Melanoma 7 | 711
Autosomal recessive predisposition 6 | 1,442
Oculocutaneous albinism 6 | 29
Chediak-Higashi syndrome 5 | 26
Hermansky-Pudlak syndrome 5 | 42
Nystagmus 5 | 317
Pigmentary iris degeneration 5 | 20
cutaneous lupus erythematosus 5 | 1,057
glioblastoma 5 | 5,792
ovarian cancer 5 | 8,520
Achromasia 4 | 11
Albinism 4 | 11
Breast cancer 4 | 3,578
Hair hypopigmentation 4 | 12
Low Vision 4 | 174
Microphthalmia 4 | 76
Ocular albinism 4 | 26
Photodysphoria 4 | 121
Photophobia 4 | 121
Piebaldism 4 | 15
Skin cancer 4 | 469
Strabismus 4 | 270
Visual Impairment 4 | 174
Vitiligo 4 | 73
ependymoma 4 | 4,679
malignant mesothelioma 4 | 3,232
osteosarcoma 4 | 7,950
Astrocytoma, Pilocytic 3 | 3,081
Basal cell carcinoma 3 | 54
Carcinoma, Basal Cell 3 | 28
Freckles 3 | 33
Hypopigmentation disorder 3 | 25
Kidney cancer 3 | 2,613
Optic nerve abnormalities 3 | 5
Reduced visual acuity 3 | 63
Retinal depigmentation 3 | 12
blue iris (physical finding) 3 | 17
diabetes mellitus 3 | 1,728
group 3 medulloblastoma 3 | 4,104
intraductal papillary-mucinous adenoma (IPMA) 3 | 2,955
intraductal papillary-mucinous carcinoma (IPMC) 3 | 2,989
Astigmatism 2 | 54
Congenital nystagmus 2 | 26
Dull foveal reflex 2 | 9
Foveal hypoplasia (finding) 2 | 9
Hyperopia 2 | 70
Red hair 2 | 6
Retinal Diseases 2 | 55
Skin Neoplasms 2 | 69
Uveal melanoma 2 | 20
Waardenburg's syndrome 2 | 17
White hair 2 | 7
adult high grade glioma 2 | 3,801
astrocytic glioma 2 | 2,597
atypical teratoid / rhabdoid tumor 2 | 5,112
breast carcinoma 2 | 1,638
cystic fibrosis 2 | 1,696
invasive ductal carcinoma 2 | 2,951
medulloblastoma, large-cell 2 | 6,241
oligodendroglioma 2 | 2,850
primitive neuroectodermal tumor 2 | 3,035
ALBINISM, OCULOCUTANEOUS, TYPE III 1 | 1
Accumulation of melanosomes in melanocytes 1 | 2
Acute conjunctivitis 1 | 4
Adult Fanconi syndrome 1 | 12
Albinism, Oculocutaneous, Type 3 1 | 1
Chronic kidney disease stage 5 1 | 31
Cycloplegia 1 | 12
Dilated cardiomyopathy 1P 1 | 3
Diplopia 1 | 8
Exocrine pancreatic insufficiency 1 | 32
Fanconi syndrome 1 | 14
Follicular adenoma 1 | 7
Generalized hypotonia 1 | 37
Glycine encephalopathy 1 | 29
Glycosuria 1 | 29
Griscelli syndrome type 1 1 | 5
Hemophagocytic lymphohistiocytosis 1 | 30
Hyperchloremic metabolic acidosis 1 | 5
Hyperphosphaturia 1 | 21
Iris disease 1 | 10
Lymphangioleiomyomatosis 1 | 16
Measles 1 | 22
Melanin pigment aggregation in hair shafts 1 | 2
Microscopic hematuria 1 | 9
Multiple lentigines 1 | 10
Nephritis, Tubulointerstitial 1 | 8
Oculocutaneous albinism type 3 1 | 1
Optic nerve dysplasia 1 | 6
Pancreatic Insufficiency 1 | 13
Polydipsia 1 | 15
Polyuria 1 | 23
Premature canities 1 | 24
Renal tubular disorder 1 | 12
Senile lentigo 1 | 10
Silver-gray hair 1 | 2
Subacute sclerosing panencephalitis 1 | 11
Urine phosphorous concentration above normal 1 | 21

Tissue

Endocrine System 12 | 18,159
Female tissues 12 | 17,400
Skin and soft tissues 12 | 17,230
Male tissues 11 | 17,142
Urinary Tract 11 | 16,678
Blood and immune system 10 | 16,909
Digestive Tract 10 | 17,369
Liver and Pancreas 10 | 16,750
Nervous System 10 | 16,725
Respiratory system 10 | 16,393
Cardiovascular System 9 | 15,192

Target Family

Non-IDG 6 | 12,091
Enzyme 4 | 4,145
Ion Channel 1 | 344
Transporter 1 | 473

GO Process

melanin biosynthetic process 12 | 12
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 
5,6-dihydroxyindole-2-carboxylic acid oxidase TYRP1 Tbio Enzyme -2.95336 876.7 309
Tyrosinase TYR Tclin Enzyme -3.32888 2021.2 494
D-dopachrome decarboxylase DDT Tbio Enzyme -1.83692 64.5 245
Short transient receptor potential channel 1 TRPC1 Tbio Ion Channel -2.52589 340.7 162
P protein OCA2 Tbio Non-IDG -2.47946 286.8 125
Cystinosin CTNS Tbio Non-IDG -2.31471 205.6 165
Membrane-associated transporter protein SLC45A2 Tbio Transporter -2.45584 276.5 83
L-dopachrome tautomerase DCT Tbio Enzyme -2.30152 161.6 299
Cbp/p300-interacting transactivator 1 CITED1 Tbio Non-IDG -1.74130 57.5 210
Unconventional myosin-Va MYO5A Tbio Non-IDG -1.77097 54.9 83