Development Level

Tbio 30 | 11,445
Tchem 1 | 1,598
Tclin 1 | 613

IMPC Phenotype

preweaning lethality, complete... 6 | 979
embryonic lethality prior to t... 3 | 278
abnormal embryo size 2 | 220
abnormal retinal vasculature m... 2 | 27
cataract 2 | 92
impaired pupillary reflex 2 | 26
increased circulating choleste... 2 | 66
abnormal body wall morphology 1 | 9
abnormal bone structure 1 | 187
abnormal cornea morphology 1 | 31
abnormal lens morphology 1 | 81
abnormal optic disc morphology 1 | 10
abnormal retina morphology 1 | 71
abnormal retinal blood vessel ... 1 | 26
abnormal tail morphology 1 | 25
absent startle reflex 1 | 24
cleft palate 1 | 8
corneal opacity 1 | 32
decreased circulating sodium l... 1 | 22
decreased hematocrit 1 | 46
decreased lean body mass 1 | 135
decreased spleen weight 1 | 10
embryonic lethality prior to o... 1 | 239
enlarged heart 1 | 210
enlarged lymph nodes 1 | 37
fused cornea and lens 1 | 5
hemorrhage 1 | 23
impaired righting response 1 | 26
increased circulating HDL chol... 1 | 80
increased circulating free fat... 1 | 20
increased mean corpuscular hem... 1 | 36
increased startle reflex 1 | 112
increased total body fat amoun... 1 | 134
iris synechia 1 | 3
limb grasping 1 | 41
narrow eye opening 1 | 12
no spontaneous movement 1 | 1
persistence of hyaloid vascula... 1 | 33

Disease

lung cancer 13 | 4,740
ovarian cancer 13 | 8,520
Carcinoma 10 | 11,493
psoriasis 10 | 6,694
Cancer 9 | 2,499
osteosarcoma 9 | 7,950
Breast cancer 7 | 3,578
Cleft Lip 7 | 141
Cleft Palate 7 | 271
group 3 medulloblastoma 7 | 4,104
malignant mesothelioma 7 | 3,232
non-small cell lung cancer 7 | 2,890
breast carcinoma 6 | 1,638
diabetes mellitus 6 | 1,728
Autosomal recessive predisposition 5 | 1,442
Depressive disorder 5 | 409
Kidney cancer 5 | 2,613
LADD syndrome 5 | 9
invasive ductal carcinoma 5 | 2,951
lung adenocarcinoma 5 | 2,716
Achondroplasia 4 | 21
Breast Neoplasms 4 | 445
Hereditary spherocytosis type 5 4 | 12
Mammary Neoplasms 4 | 425
Multiple myeloma 4 | 1,332
ependymoma 4 | 4,679
medulloblastoma, large-cell 4 | 6,241
Acrocephalosyndactylia 3 | 17
Bipolar Disorder 3 | 666
Congenital absence of kidney 3 | 31
Craniofacial Abnormalities 3 | 151
Craniosynostosis 3 | 74
Cryptorchidism 3 | 296
Down syndrome 3 | 499
Downward slant of palpebral fissure 3 | 158
Generalized osteopenia 3 | 99
Hypospadias 3 | 53
Liver Cirrhosis 3 | 181
Lung disease 3 | 142
Mental Depression 3 | 333
Orbital separation excessive 3 | 244
Osteopenia 3 | 99
Osteoporosis 3 | 363
Parkinson's disease 3 | 392
Synostosis 3 | 15
adult high grade glioma 3 | 3,801
astrocytoma 3 | 1,146
atypical teratoid / rhabdoid tumor 3 | 5,112
colon cancer 3 | 1,478
glioblastoma 3 | 5,792
intraductal papillary-mucinous neoplasm (IPMN) 3 | 3,291
lung carcinoma 3 | 2,843
non primary Sjogren syndrome sicca 3 | 891
oligodendroglioma 3 | 2,850
subependymal giant cell astrocytoma 3 | 2,287
Absence of pubertal development 2 | 17
Absence of radius and ulna 2 | 15
Absence of secondary sex characteristics 2 | 22
Absent radius 2 | 15
Anxiety disease 2 | 113
Choanal Atresia 2 | 42
Congenital hypoplasia of breast 2 | 25
Decreased bone mineral density Z score 2 | 31
Decreased fertility 2 | 33
Decreased testosterone in males 2 | 28
Defective enamel matrix 2 | 35
Delayed Puberty 2 | 97
Dental Enamel Hypoplasia 2 | 43
Dental caries 2 | 164
Dysplasia of tooth enamel 2 | 35
Erectile dysfunction 2 | 32
Esophageal atresia 2 | 43
Eunuchoid habitus 2 | 14
Female hypogonadism syndrome 2 | 25
Gynecomastia 2 | 64
Hypodontia 2 | 81
Hypogonadism, Isolated Hypogonadotropic 2 | 71
Hypogonadotropic hypogonadism 2 | 89
Increased female libido 2 | 13
Infantile uterus 2 | 23
Kallmann Syndrome 2 (disorder) 2 | 18
Mixed connective tissue disease 2 | 16
Non-obstructive azoospermia 2 | 21
Peg shaped front tooth 2 | 6
Peg-shaped incisors 2 | 6
Periorbital fullness 2 | 9
Pointed front tooth 2 | 6
Pointed incisor 2 | 6
Primary physiologic amenorrhea 2 | 55
Pulmonary Fibrosis 2 | 106
Radial aplasia 2 | 15
Renal agenesis 2 | 29
Rotting teeth 2 | 73
Small testicle 2 | 75
Sparse body hair 2 | 32
Testicular hypogonadism 2 | 21
Thin dental enamel 2 | 35
Tooth Abnormalities 2 | 69
Wide spaced nipples 2 | 46
Xeroderma pigmentosum group B 2 | 20

Tissue

Endocrine System 31 | 18,159
Digestive Tract 30 | 17,369
Nervous System 30 | 16,725
Female tissues 29 | 17,400
Male tissues 29 | 17,142
Skin and soft tissues 29 | 17,230
Urinary Tract 29 | 16,678
Blood and immune system 28 | 16,909
Liver and Pancreas 28 | 16,750
Respiratory system 27 | 16,393
Cardiovascular System 25 | 15,192

Target Family

Non-IDG 19 | 12,091
Enzyme 12 | 4,145
Kinase 1 | 634

Reactome Pathway

FGFR2 mutant receptor activati... 32 | 32
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

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