Development Level

Tbio 19 | 11,445
Tdark 1 | 6,588

Collection

GPCR: IDG Consortium (Targets) 1 | 126

IMPC Phenotype

abnormal coat-hair pigmentatio... 2 | 64
abnormal retina morphology 2 | 71
hemorrhage 2 | 23
preweaning lethality, complete... 2 | 979
abnormal craniofacial morpholo... 1 | 33
abnormal iris morphology 1 | 13
abnormal iris pigmentation 1 | 4
abnormal limb bud morphology 1 | 17
abnormal pericardium morpholog... 1 | 26
abnormal placenta size 1 | 20
convulsive seizures 1 | 13
decreased blood urea nitrogen ... 1 | 51
edema 1 | 59
embryonic lethality prior to t... 1 | 278
increased body length 1 | 32
increased lymphocyte cell numb... 1 | 32
increased or absent threshold ... 1 | 101
increased startle reflex 1 | 112
pale liver 1 | 6
prenatal lethality prior to he... 1 | 87
preweaning lethality, incomple... 1 | 499
small superior vagus ganglion 1 | 74

Disease

Hermansky-Pudlak syndrome 11 | 42
Carcinoma 10 | 11,493
ovarian cancer 10 | 8,520
Platelet storage pool deficiency 8 | 21
osteosarcoma 8 | 7,950
Oculocutaneous albinism 7 | 29
psoriasis 7 | 6,694
medulloblastoma, large-cell 6 | 6,241
Nystagmus 5 | 317
atypical teratoid / rhabdoid tumor 5 | 5,112
ependymoma 5 | 4,679
malignant mesothelioma 5 | 3,232
Autosomal recessive predisposition 4 | 1,442
Hermanski-Pudlak Syndrome 4 | 8
Schizophrenia 4 | 1,160
Strabismus 4 | 270
adult high grade glioma 4 | 3,801
astrocytic glioma 4 | 2,597
cutaneous lupus erythematosus 4 | 1,057
group 4 medulloblastoma 4 | 1,855
intraductal papillary-mucinous neoplasm (IPMN) 4 | 3,291
oligodendroglioma 4 | 2,850
pancreatic cancer 4 | 2,398
Albinism, Ocular 3 | 8
Astrocytoma, Pilocytic 3 | 3,081
Breast cancer 3 | 3,578
Chediak-Higashi syndrome 3 | 26
Low Vision 3 | 174
Melanoma 3 | 711
Ocular albinism 3 | 26
Photodysphoria 3 | 121
Photophobia 3 | 121
Pick disease 3 | 1,894
Visual Impairment 3 | 174
Vitiligo 3 | 73
glioblastoma 3 | 5,792
intraductal papillary-mucinous adenoma (IPMA) 3 | 2,955
lung cancer 3 | 4,740
Achromasia 2 | 11
Albinism 2 | 11
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells 2 | 7
Amblyopia 2 | 38
Congenital nystagmus 2 | 26
Decreased platelet count 2 | 111
Freckles 2 | 33
Giant melanosomes in melanocytes 2 | 4
Gingival Diseases 2 | 19
Hemophagocytic lymphohistiocytosis 2 | 30
Hepatomegaly 2 | 285
Hermansky-Pudlak Syndrome 1 2 | 6
Hypopigmentation disorder 2 | 25
Kidney cancer 2 | 2,613
Microphthalmia 2 | 76
Neutrophil count decreased 2 | 47
Periodontal Diseases 2 | 21
Pigment dispersion syndrome 2 | 11
Pigmentary iris degeneration 2 | 20
Prostate cancer 2 | 175
Reduced visual acuity 2 | 63
Rheumatoid arthritis 2 | 1,191
Splenomegaly 2 | 190
Thrombocytopenia 2 | 197
Type 2 diabetes mellitus 2 | 272
acute quadriplegic myopathy 2 | 1,158
group 3 medulloblastoma 2 | 4,104
invasive ductal carcinoma 2 | 2,951
medulloblastoma 2 | 720
periodontitis 2 | 293
pituitary cancer 2 | 1,972
primary pancreatic ductal adenocarcinoma 2 | 1,109
primitive neuroectodermal tumor 2 | 3,035
progressive supranuclear palsy 2 | 676
spina bifida 2 | 1,074
tuberculosis 2 | 2,010
ulcerative colitis 2 | 1,819
Adenocarcinoma 1 | 122
Anogenital venereal wart 1 | 14
Astigmatism 1 | 54
Basal cell carcinoma 1 | 54
Carcinoma, Basal Cell 1 | 28
Chromosome 9p deletion syndrome 1 | 13
Decreased nerve conduction velocity 1 | 35
Dental caries 1 | 164
Griscelli syndrome 1 | 24
Immunologic Deficiency Syndromes 1 | 113
Increased susceptibility to bacterial infections 1 | 42
Klippel-Trenaunay syndrome 1 | 13
Lymphadenopathy 1 | 62
Neuro-degenerative disease 1 | 43
Neurodegenerative Disorders 1 | 79
Ocular melanoma 1 | 4
Peripheral Neuropathy 1 | 134
Progressive peripheral neuropathy 1 | 3
Prone to bacterial infection 1 | 42
Pulmonary Fibrosis 1 | 106
Recurrent bacterial infection 1 | 42
Rotting teeth 1 | 73
Skin Ulcer 1 | 48
Thin upper lip vermilion 1 | 67
Varicose veins 1 | 20

Tissue

Blood and immune system 20 | 16,909
Digestive Tract 20 | 17,369
Endocrine System 20 | 18,159
Female tissues 20 | 17,400
Liver and Pancreas 20 | 16,750
Male tissues 20 | 17,142
Nervous System 20 | 16,725
Respiratory system 20 | 16,393
Skin and soft tissues 20 | 17,230
Urinary Tract 20 | 16,678
Cardiovascular System 19 | 15,192

Target Family

Non-IDG 17 | 12,091
Enzyme 2 | 4,145
GPCR 1 | 408

GO Process

melanosome organization 20 | 20
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

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