Development Level

Tbio 26 | 11,445
Tchem 3 | 1,598
Tclin 1 | 613

IMPC Phenotype

preweaning lethality, complete... 3 | 979
embryonic lethality prior to t... 2 | 278
abnormal embryo size 1 | 220
decreased red blood cell distr... 1 | 41
decreased spleen weight 1 | 10
decreased threshold for audito... 1 | 26
decreased vertical activity 1 | 208
embryonic growth retardation 1 | 106
embryonic lethality prior to o... 1 | 239
enlarged lymph nodes 1 | 37
increased bone mineral density 1 | 72
vertebral fusion 1 | 23

Disease

Autosomal recessive predisposition 19 | 1,442
Carcinoma 19 | 11,493
Muscular dystrophy 19 | 75
Myopathy 19 | 185
Creatine phosphokinase serum increased 17 | 110
Elevated creatine kinase 17 | 110
ovarian cancer 17 | 8,520
limb-girdle muscular dystrophy 15 | 37
Muscle biopsy shows dystrophic changes 14 | 39
osteosarcoma 12 | 7,950
psoriasis 12 | 6,694
Cardiomyopathy 11 | 116
glioblastoma 10 | 5,792
Intellectual disability 9 | 1,016
Muscle hypotonia 9 | 571
Proximal muscle weakness 9 | 47
Proximal neurogenic muscle weakness 9 | 47
Dull intelligence 8 | 645
Gowers sign 8 | 24
Gowers sign present 8 | 24
Highly variable severity 8 | 157
Kidney cancer 8 | 2,613
Low intelligence 8 | 645
Mental Retardation 8 | 645
Mental deficiency 8 | 645
Poor school performance 8 | 645
Variable expressivity 8 | 157
invasive ductal carcinoma 8 | 2,951
Adult onset 7 | 82
atypical teratoid / rhabdoid tumor 7 | 5,112
colon cancer 7 | 1,478
ependymoma 7 | 4,679
lung adenocarcinoma 7 | 2,716
lung cancer 7 | 4,740
medulloblastoma, large-cell 7 | 6,241
Astrocytoma, Pilocytic 6 | 3,081
Cognitive delay 6 | 608
Contracture 6 | 96
Contracture of joint 6 | 93
Flexion contracture 6 | 93
Flexion contractures of joints 6 | 93
Global developmental delay 6 | 608
Mental and motor retardation 6 | 608
Muscle Weakness 6 | 170
Respiratory Failure 6 | 104
Slow progression 6 | 89
lung carcinoma 6 | 2,843
pancreatic cancer 6 | 2,398
pituitary cancer 6 | 1,972
tuberculosis 6 | 2,010
Acquired scoliosis 5 | 281
Cardiomyopathies 5 | 110
Curvature of spine 5 | 282
Difficulty walking up stairs 5 | 12
Epilepsy 5 | 792
Hydrocephalus 5 | 152
Lissencephaly 5 | 69
Muscle atrophy, proximal 5 | 11
Neurogenic Muscular Atrophy 5 | 139
Neurogenic muscle atrophy, especially in the lower limbs 5 | 139
Neuropathy 5 | 261
Ptosis 5 | 48
Seizures 5 | 596
Skeletal muscle atrophy 5 | 139
Strabismus 5 | 270
Waddling gait 5 | 34
ductal carcinoma in situ 5 | 1,745
group 4 medulloblastoma 5 | 1,855
intraductal papillary-mucinous adenoma (IPMA) 5 | 2,955
intraductal papillary-mucinous carcinoma (IPMC) 5 | 2,989
intraductal papillary-mucinous neoplasm (IPMN) 5 | 3,291
muscle degeneration 5 | 139
primitive neuroectodermal tumor 5 | 3,035
Absent reflex 4 | 92
Absent tendon reflex 4 | 92
Bell Palsy 4 | 58
Breast cancer 4 | 3,578
Cardiomyopathy, Dilated 4 | 83
Congenital muscular dystrophy 4 | 29
Congenital myasthenic syndrome 4 | 25
Decreased tendon reflex 4 | 122
Difficulty walking 4 | 28
Facial Paresis 4 | 59
Facial muscle weakness of muscles innervated by CN VII 4 | 58
Infantile onset 4 | 238
Lens Opacities 4 | 231
Limb-girdle muscle weakness 4 | 12
Melanoma 4 | 711
Motor delay 4 | 147
Myopia 4 | 176
No development of motor milestones 4 | 147
Reflex, Deep Tendon, Absent 4 | 92
Respiratory Insufficiency 4 | 132
Skin cancer 4 | 469
Uranostaphyloschisis 4 | 167
Walker-Warburg syndrome 4 | 20
adult high grade glioma 4 | 3,801
astrocytic glioma 4 | 2,597
breast carcinoma 4 | 1,638
cutaneous lupus erythematosus 4 | 1,057

Tissue

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

Target Family

Non-IDG 19 | 12,091
Enzyme 6 | 4,145
Transcription Factor 3 | 1,400
Kinase 2 | 634

Compartment GO Term

Dinoflagellate cingulum 30 | 30
cellular_component 18,320 | 18,320
Cell 16,178 | 16,178
Cell part 16,177 | 16,177
Intracellular 14,109 | 14,109
Intracellular part 13,972 | 13,972
Organelle 12,237 | 12,237
Intracellular organelle 12,023 | 12,023
membrane-bounded organelle 11,130 | 11,130
Cytoplasm 10,983 | 10,983
Intracellular membrane-bounded... 10,340 | 10,340
Cytoplasmic part 9,247 | 9,247
Organelle part 8,976 | 8,976
Intracellular organelle part 8,784 | 8,784
Membrane 8,531 | 8,531
Nucleus 7,561 | 7,561
Cytosol 6,686 | 6,686
Membrane part 6,554 | 6,554
Plasma membrane 5,830 | 5,830
Macromolecular complex 5,476 | 5,476
Intrinsic component of membran... 5,458 | 5,458
Cell periphery 5,382 | 5,382
Integral component of membrane 5,331 | 5,331
Intracellular organelle lumen 5,090 | 5,090
Organelle lumen 5,090 | 5,090
membrane-enclosed lumen 5,090 | 5,090
Nucleoplasm 5,077 | 5,077
Nuclear part 4,290 | 4,290
Endomembrane system 4,237 | 4,237
Intracellular non-membrane-bou... 3,972 | 3,972
non-membrane-bounded organelle 3,972 | 3,972
Nuclear lumen 3,968 | 3,968
Protein complex 3,674 | 3,674
Organelle membrane 2,846 | 2,846
Extracellular region 2,732 | 2,732
Plasma membrane part 2,594 | 2,594
Vesicle 2,342 | 2,342
Cytoplasmic vesicle 2,218 | 2,218
Intracellular vesicle 2,217 | 2,217
Cytoskeleton 2,108 | 2,108
Endoplasmic reticulum 2,001 | 2,001
Bounding membrane of organelle 1,955 | 1,955
Golgi apparatus 1,932 | 1,932
Intrinsic component of plasma ... 1,749 | 1,749
Integral component of plasma m... 1,693 | 1,693
Catalytic complex 1,641 | 1,641
Cytoskeletal part 1,637 | 1,637
Extracellular region part 1,628 | 1,628
Vesicles 1,613 | 1,613
Mitochondrion 1,576 | 1,576
Whole membrane 1,547 | 1,547
Cell projection 1,541 | 1,541
Cytoplasmic vesicle part 1,513 | 1,513
Endoplasmic reticulum part 1,359 | 1,359
GO:0031975 1,150 | 1,150
Organelle envelope 1,142 | 1,142
Microtubule cytoskeleton 1,137 | 1,137
Extracellular space 1,123 | 1,123
Nuclear outer membrane-endopla... 1,121 | 1,121
Nucleoplasm part 1,121 | 1,121
Endoplasmic reticulum membrane 1,103 | 1,103
Chromosome 1,040 | 1,040
Mitochondrial part 1,036 | 1,036
Mitochondria 998 | 998
Secretory vesicle 971 | 971
Neuron part 970 | 970
Supramolecular polymer 967 | 967
Supramolecular complex 966 | 966
Cell junction 960 | 960
Supramolecular fiber 959 | 959
Golgi apparatus part 949 | 949
Nucleoli 942 | 942
Endosome 931 | 931
Nucleolus 926 | 926
Chromosomal part 889 | 889
GO:0098796 884 | 884
Ribonucleoprotein complex 864 | 864
Secretory granule 852 | 852
Cell projection part 850 | 850
Intracellular ribonucleoprotei... 849 | 849
Transferase complex 848 | 848
Cell surface 842 | 842
Plasma membrane region 841 | 841
Vesicle membrane 801 | 801
Cytoplasmic vesicle membrane 795 | 795
Polymeric cytoskeletal fiber 764 | 764
Mitochondrial envelope 746 | 746
Vacuole 732 | 732
Nuclear body 725 | 725
Golgi membrane 724 | 724
Microtubule organizing center 721 | 721
Extracellular matrix 714 | 714
Neuron projection 712 | 712
Centrosome 696 | 696
Mitochondrial membrane 696 | 696
Receptor complex 686 | 686
Synapse 662 | 662
Lysosome 624 | 624
Lytic vacuole 624 | 624
Chromatin 565 | 565
Endosomal part 565 | 565

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Polyadenylate-binding protein 2 PABPN1 Tbio Non-IDG -2.48757 316.4 120
Selenoprotein N SELENON Tbio Non-IDG -1.95384 87.6 96
Fukutin FKTN Tbio Non-IDG -2.34994 236.9 131
T-box transcription factor TBX15 TBX15 Tbio Transcription Factor -1.29899 21.5 123
Paired box protein Pax-1 PAX1 Tbio Transcription Factor -2.03339 106.1 245
Protein Dok-7 DOK7 Tbio Non-IDG -1.97574 98.6 244
Glutamine--fructose-6-phosphate aminotransferase [isomerizing] 1 GFPT1 Tchem Enzyme -2.79406 584.2 135
Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha PIK3C2A Tchem Kinase -3.50398 3129.0 525
Myotilin MYOT Tbio Non-IDG -1.90038 80.3 177
Dystroglycan DAG1 Tbio Enzyme -2.77503 560.0 254