Development Level

Tbio 26 | 11,178
Tchem 3 | 1,885
Tclin 1 | 612

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 | 1,407
Carcinoma 19 | 11,192
Muscular dystrophy 19 | 75
Myopathy 19 | 185
Creatine phosphokinase serum increased 17 | 110
Elevated creatine kinase 17 | 110
ovarian cancer 17 | 8,297
limb-girdle muscular dystrophy 15 | 37
Muscle biopsy shows dystrophic changes 14 | 39
osteosarcoma 12 | 7,766
psoriasis 12 | 6,514
Cardiomyopathy 11 | 116
glioblastoma 10 | 5,635
Intellectual disability 9 | 998
Muscle hypotonia 9 | 562
Proximal muscle weakness 9 | 47
Proximal neurogenic muscle weakness 9 | 47
Dull intelligence 8 | 634
Gowers sign 8 | 23
Gowers sign present 8 | 23
Highly variable severity 8 | 149
Kidney cancer 8 | 2,548
Low intelligence 8 | 634
Mental Retardation 8 | 634
Mental deficiency 8 | 634
Poor school performance 8 | 634
Variable expressivity 8 | 149
invasive ductal carcinoma 8 | 2,867
Adult onset 7 | 81
atypical teratoid / rhabdoid tumor 7 | 4,971
colon cancer 7 | 1,428
ependymoma 7 | 4,559
lung adenocarcinoma 7 | 2,627
lung cancer 7 | 4,607
medulloblastoma, large-cell 7 | 6,086
Astrocytoma, Pilocytic 6 | 3,006
Cognitive delay 6 | 596
Contracture 6 | 95
Contracture of joint 6 | 92
Flexion contracture 6 | 92
Flexion contractures of joints 6 | 92
Global developmental delay 6 | 596
Mental and motor retardation 6 | 596
Muscle Weakness 6 | 168
Respiratory Failure 6 | 101
Slow progression 6 | 88
lung carcinoma 6 | 2,755
pancreatic cancer 6 | 2,322
pituitary cancer 6 | 1,915
tuberculosis 6 | 1,963
Acquired scoliosis 5 | 274
Cardiomyopathies 5 | 109
Curvature of spine 5 | 275
Difficulty walking up stairs 5 | 12
Epilepsy 5 | 775
Hydrocephalus 5 | 148
Lissencephaly 5 | 69
Muscle atrophy, proximal 5 | 11
Neurogenic Muscular Atrophy 5 | 136
Neurogenic muscle atrophy, especially in the lower limbs 5 | 136
Neuropathy 5 | 254
Ptosis 5 | 46
Seizures 5 | 584
Skeletal muscle atrophy 5 | 136
Strabismus 5 | 265
Waddling gait 5 | 33
ductal carcinoma in situ 5 | 1,686
group 4 medulloblastoma 5 | 1,806
intraductal papillary-mucinous adenoma (IPMA) 5 | 2,872
intraductal papillary-mucinous carcinoma (IPMC) 5 | 2,902
intraductal papillary-mucinous neoplasm (IPMN) 5 | 3,204
muscle degeneration 5 | 136
primitive neuroectodermal tumor 5 | 2,957
Absent reflex 4 | 90
Absent tendon reflex 4 | 90
Bell Palsy 4 | 57
Breast cancer 4 | 3,469
Cardiomyopathy, Dilated 4 | 83
Congenital muscular dystrophy 4 | 29
Congenital myasthenic syndrome 4 | 25
Decreased tendon reflex 4 | 121
Difficulty walking 4 | 27
Facial Paresis 4 | 58
Facial muscle weakness of muscles innervated by CN VII 4 | 57
Infantile onset 4 | 236
Lens Opacities 4 | 227
Limb-girdle muscle weakness 4 | 12
Melanoma 4 | 689
Motor delay 4 | 144
Myopia 4 | 175
No development of motor milestones 4 | 144
Reflex, Deep Tendon, Absent 4 | 90
Respiratory Insufficiency 4 | 130
Skin cancer 4 | 451
Uranostaphyloschisis 4 | 162
Walker-Warburg syndrome 4 | 20
adult high grade glioma 4 | 3,701
astrocytic glioma 4 | 2,530
breast carcinoma 4 | 1,589
cutaneous lupus erythematosus 4 | 1,016

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 17,863 | 17,863
Cell 15,779 | 15,779
Cell part 15,778 | 15,778
Intracellular 13,764 | 13,764
Intracellular part 13,630 | 13,630
Organelle 11,921 | 11,921
Intracellular organelle 11,712 | 11,712
membrane-bounded organelle 10,823 | 10,823
Cytoplasm 10,720 | 10,720
Intracellular membrane-bounded... 10,057 | 10,057
Cytoplasmic part 9,029 | 9,029
Organelle part 8,755 | 8,755
Intracellular organelle part 8,566 | 8,566
Membrane 8,335 | 8,335
Nucleus 7,336 | 7,336
Cytosol 6,551 | 6,551
Membrane part 6,403 | 6,403
Plasma membrane 5,682 | 5,682
Macromolecular complex 5,345 | 5,345
Intrinsic component of membran... 5,320 | 5,320
Cell periphery 5,248 | 5,248
Integral component of membrane 5,197 | 5,197
Nucleoplasm 4,931 | 4,931
Intracellular organelle lumen 4,923 | 4,923
Organelle lumen 4,923 | 4,923
membrane-enclosed lumen 4,923 | 4,923
Nuclear part 4,169 | 4,169
Endomembrane system 4,108 | 4,108
Intracellular non-membrane-bou... 3,917 | 3,917
non-membrane-bounded organelle 3,917 | 3,917
Nuclear lumen 3,851 | 3,851
Protein complex 3,565 | 3,565
Organelle membrane 2,798 | 2,798
Extracellular region 2,600 | 2,600
Plasma membrane part 2,531 | 2,531
Vesicle 2,280 | 2,280
Cytoplasmic vesicle 2,158 | 2,158
Intracellular vesicle 2,157 | 2,157
Cytoskeleton 2,084 | 2,084
Bounding membrane of organelle 1,924 | 1,924
Endoplasmic reticulum 1,922 | 1,922
Golgi apparatus 1,884 | 1,884
Intrinsic component of plasma ... 1,701 | 1,701
Integral component of plasma m... 1,647 | 1,647
Cytoskeletal part 1,613 | 1,613
Catalytic complex 1,592 | 1,592
Vesicles 1,566 | 1,566
Mitochondrion 1,557 | 1,557
Extracellular region part 1,533 | 1,533
Cell projection 1,524 | 1,524
Whole membrane 1,521 | 1,521
Cytoplasmic vesicle part 1,468 | 1,468
Endoplasmic reticulum part 1,315 | 1,315
GO:0031975 1,139 | 1,139
Organelle envelope 1,131 | 1,131
Microtubule cytoskeleton 1,127 | 1,127
Nucleoplasm part 1,100 | 1,100
Nuclear outer membrane-endopla... 1,094 | 1,094
Endoplasmic reticulum membrane 1,076 | 1,076
Extracellular space 1,059 | 1,059
Mitochondrial part 1,027 | 1,027
Chromosome 1,020 | 1,020
Mitochondria 985 | 985
Neuron part 958 | 958
Supramolecular polymer 950 | 950
Cell junction 949 | 949
Supramolecular complex 949 | 949
Supramolecular fiber 942 | 942
Secretory vesicle 930 | 930
Golgi apparatus part 923 | 923
Nucleoli 923 | 923
Nucleolus 916 | 916
Endosome 915 | 915
Chromosomal part 872 | 872
GO:0098796 868 | 868
Ribonucleoprotein complex 845 | 845
Cell projection part 838 | 838
Transferase complex 837 | 837
Intracellular ribonucleoprotei... 830 | 830
Plasma membrane region 826 | 826
Secretory granule 810 | 810
Cell surface 805 | 805
Vesicle membrane 786 | 786
Cytoplasmic vesicle membrane 780 | 780
Polymeric cytoskeletal fiber 753 | 753
Mitochondrial envelope 739 | 739
Golgi membrane 715 | 715
Microtubule organizing center 712 | 712
Nuclear body 708 | 708
Vacuole 708 | 708
Neuron projection 701 | 701
Mitochondrial membrane 689 | 689
Centrosome 685 | 685
Extracellular matrix 670 | 670
Receptor complex 670 | 670
Synapse 656 | 656
Lysosome 600 | 600
Lytic vacuole 600 | 600
Endosomal part 554 | 554
Chromatin 552 | 552

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Dystroglycan DAG1 Tbio Enzyme -2.77503 560.0 254
Fukutin-related protein FKRP Tbio Non-IDG -2.01629 107.6 173
Homeobox protein EMX2 EMX2 Tbio Transcription Factor -2.04282 110.8 265
Myotilin MYOT Tbio Non-IDG -1.90038 80.3 177
Beta-sarcoglycan SGCB Tbio Non-IDG -2.98252 853.7 151
Gamma-sarcoglycan SGCG Tbio Non-IDG -2.52283 333.0 85
Anoctamin-5 ANO5 Tbio Non-IDG -2.16849 115.8 67
Polyadenylate-binding protein 2 PABPN1 Tbio Non-IDG -2.48757 316.4 120
T-box transcription factor TBX15 TBX15 Tbio Transcription Factor -1.29899 21.5 123
Fukutin FKTN Tbio Non-IDG -2.34994 236.9 131