Development Level

Tbio 14 | 11,445
Tdark 6 | 6,588

IMPC Phenotype

preweaning lethality, complete... 3 | 979
abnormal nail morphology 1 | 8
abnormal response to tactile s... 1 | 17
abnormal spleen morphology 1 | 55
abnormal startle reflex 1 | 15
abnormal testis morphology 1 | 43
enlarged uterus 1 | 11
hydrometra 1 | 53
increased body weight 1 | 25
increased total body fat amoun... 1 | 134
male infertility 1 | 123
small superior vagus ganglion 1 | 74
small testis 1 | 58

Disease

Carcinoma 17 | 11,493
Joubert syndrome 15 | 66
Nephronophthisis 15 | 80
Meckel syndrome 13 | 46
ependymoma 12 | 4,679
ovarian cancer 11 | 8,520
Intellectual disability 10 | 1,016
Polydactyly 9 | 107
glioblastoma 9 | 5,792
group 3 medulloblastoma 9 | 4,104
medulloblastoma, large-cell 9 | 6,241
Meckel-Gruber syndrome 8 | 13
atypical teratoid / rhabdoid tumor 8 | 5,112
lung cancer 8 | 4,740
osteosarcoma 8 | 7,950
psoriasis 8 | 6,694
Autosomal recessive predisposition 7 | 1,442
Dull intelligence 7 | 645
Low intelligence 7 | 645
Mental Retardation 7 | 645
Mental deficiency 7 | 645
Nystagmus 7 | 317
Poor school performance 7 | 645
Senior-Loken syndrome 7 | 22
Apnea 6 | 45
Biparietal narrowing 6 | 28
Cerebellar Ataxia 6 | 304
Cerebellar vermis hypoplasia 6 | 24
Cognitive delay 6 | 608
Cystic kidney disease 6 | 26
Decreased width of the skull 6 | 28
Fundus dystrophy 6 | 83
Global developmental delay 6 | 608
Kidney cancer 6 | 2,613
Long face 6 | 71
Mental and motor retardation 6 | 608
Molar tooth sign on MRI 6 | 12
Muscle hypotonia 6 | 571
adult high grade glioma 6 | 3,801
Bardet-Biedl syndrome 5 | 51
Defective or absent horizontal voluntary eye movements 5 | 25
Gait abnormality 5 | 135
Low-set, posteriorly rotated ears 5 | 110
Obesity 5 | 678
Oculomotor apraxia 5 | 25
Retinal Degeneration 5 | 106
Retinal Dystrophies 5 | 33
chronic rhinosinusitis 5 | 512
intraductal papillary-mucinous adenoma (IPMA) 5 | 2,955
invasive ductal carcinoma 5 | 2,951
malignant mesothelioma 5 | 3,232
Cleft Palate 4 | 271
Coloboma 4 | 51
Familial aplasia of the vermis 4 | 19
Feeding difficulties 4 | 127
Feeding difficulties in infancy 4 | 175
Multicystic Dysplastic Kidney 4 | 52
Retinitis Pigmentosa 4 | 226
Small head 4 | 374
Ulnar polydactyly of fingers 4 | 47
Uranostaphyloschisis 4 | 167
intraductal papillary-mucinous carcinoma (IPMC) 4 | 2,989
primitive neuroectodermal tumor 4 | 3,035
tuberculosis 4 | 2,010
Abnormally small eyeball 3 | 97
Aplasia/Hypoplasia of the iris 3 | 10
Bardet-Biedl syndrome 1 3 | 22
Cataract 3 | 297
Chorioretinal abnormality 3 | 21
Chubby cheeks 3 | 50
Coloboma of iris 3 | 38
Congenital hypoplasia of penis 3 | 176
Corneal diameter decreased 3 | 47
Decreased size of eyeball 3 | 97
Depressed nasal ridge 3 | 51
Electroretinogram abnormal 3 | 95
Fibular polydactyly 3 | 12
Full cheeks 3 | 50
Hyperplasia of cheeks 3 | 50
Hyperpnea, episodic 3 | 7
Hypertrophy of cheeks 3 | 50
Hypoplastic mandible condyle 3 | 275
Lens Opacities 3 | 231
Lobar Holoprosencephaly 3 | 20
Mandibular hypoplasia 3 | 275
Maternal oligohydramnios 3 | 31
Microcornea 3 | 47
Micrognathism 3 | 275
Microphthalmos 3 | 100
Oligohydramnios 3 | 52
Optic Atrophy 3 | 242
Orbital separation excessive 3 | 244
Postaxial foot polydactyly 3 | 12
Puffy cheeks 3 | 50
Sclerocornea 3 | 29
Sloping forehead 3 | 46
Talipes 3 | 20
Talipes foot deformities 3 | 20
astrocytic glioma 3 | 2,597
oligodendroglioma 3 | 2,850

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 18 | 12,091
Enzyme 1 | 4,145
Transcription Factor 1 | 1,400

Compartment GO Term

Y-shaped link 20 | 20
cellular_component 18,320 | 18,320
Cell 16,178 | 16,178
Cell part 16,177 | 16,177
Intracellular 14,108 | 14,108
Intracellular part 13,972 | 13,972
Organelle 12,238 | 12,238
Intracellular organelle 12,025 | 12,025
membrane-bounded organelle 11,132 | 11,132
Cytoplasm 10,983 | 10,983
Intracellular membrane-bounded... 10,341 | 10,341
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 7,562 | 7,562
Cytosol 6,686 | 6,686
Membrane part 6,554 | 6,554
Plasma membrane 5,830 | 5,830
Macromolecular complex 5,475 | 5,475
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... 3,975 | 3,975
non-membrane-bounded organelle 3,974 | 3,974
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 1,956 | 1,956
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 1,627 | 1,627
Vesicles 1,613 | 1,613
Mitochondrion 1,576 | 1,576
Whole membrane 1,548 | 1,548
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 1,124 | 1,124
Nucleoplasm part 1,122 | 1,122
Nuclear outer membrane-endopla... 1,121 | 1,121
Endoplasmic reticulum membrane 1,103 | 1,103
Chromosome 1,039 | 1,039
Mitochondrial part 1,036 | 1,036
Mitochondria 998 | 998
Secretory vesicle 970 | 970
Neuron part 969 | 969
Supramolecular polymer 967 | 967
Supramolecular complex 966 | 966
Cell junction 960 | 960
Supramolecular fiber 959 | 959
Golgi apparatus part 950 | 950
Nucleoli 942 | 942
Endosome 930 | 930
Nucleolus 926 | 926
Chromosomal part 889 | 889
GO:0098796 884 | 884
Ribonucleoprotein complex 865 | 865
Secretory granule 852 | 852
Cell projection part 850 | 850
Intracellular ribonucleoprotei... 850 | 850
Transferase complex 849 | 849
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 711 | 711
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 
Protein fantom RPGRIP1L Tbio Non-IDG -2.19530 157.0 80
Centrosomal protein of 290 kDa CEP290 Tbio Non-IDG -2.03755 107.9 152
Jouberin AHI1 Tbio Non-IDG -1.96515 97.5 151
Nephrocystin-1 NPHP1 Tbio Non-IDG -1.76149 55.3 96
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 RPGRIP1 Tbio Enzyme -1.69109 46.2 64
Zinc finger protein 423 ZNF423 Tbio Transcription Factor -1.62303 45.3 77
Meckelin TMEM67 Tbio Non-IDG -1.52954 36.3 53
Nephrocystin-4 NPHP4 Tbio Non-IDG -1.41456 27.1 54
Myomegalin PDE4DIP Tbio Non-IDG -1.36271 24.7 81
Meckel syndrome type 1 protein MKS1 Tbio Non-IDG -1.31837 20.5 59