Development Level

Tbio 10 | 11,445
Tdark 3 | 6,588

IMPC Phenotype

preweaning lethality, complete... 2 | 979
abnormal nail morphology 1 | 8
abnormal response to tactile s... 1 | 17
abnormal startle reflex 1 | 15
increased body weight 1 | 25
increased total body fat amoun... 1 | 134

Disease

Joubert syndrome 13 | 66
Meckel syndrome 13 | 46
Nephronophthisis 12 | 80
Polydactyly 10 | 107
Meckel-Gruber syndrome 9 | 13
ependymoma 8 | 4,679
Familial aplasia of the vermis 7 | 19
Intellectual disability 7 | 1,016
Carcinoma 6 | 11,493
Senior-Loken syndrome 6 | 22
medulloblastoma, large-cell 6 | 6,241
ovarian cancer 6 | 8,520
Orofaciodigital syndrome 5 | 21
atypical teratoid / rhabdoid tumor 5 | 5,112
glioblastoma 5 | 5,792
lung cancer 5 | 4,740
Apnea 4 | 45
Arima syndrome 4 | 7
Autosomal recessive predisposition 4 | 1,442
Bardet-Biedl syndrome 4 | 51
Biparietal narrowing 4 | 28
Cerebellar Ataxia 4 | 304
Cerebellar vermis hypoplasia 4 | 24
Cognitive delay 4 | 608
Coloboma 4 | 51
Cystic kidney disease 4 | 26
Decreased width of the skull 4 | 28
Defective or absent horizontal voluntary eye movements 4 | 25
Dull intelligence 4 | 645
Fundus dystrophy 4 | 83
Gastrointestinal Stromal Tumors 4 | 48
Global developmental delay 4 | 608
Hydrolethalus syndrome 4 | 128
Hyperpnea, episodic 4 | 7
Long face 4 | 71
Low intelligence 4 | 645
Mental Retardation 4 | 645
Mental and motor retardation 4 | 608
Mental deficiency 4 | 645
Muscle hypotonia 4 | 571
Nystagmus 4 | 317
Oculomotor apraxia 4 | 25
Poor school performance 4 | 645
nasopharyngeal carcinoma 4 | 1,058
osteosarcoma 4 | 7,950
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
Cleft Palate 3 | 271
Congenital cerebral hernia 3 | 21
Corneal diameter decreased 3 | 47
Cryptorchidism 3 | 296
Decreased size of eyeball 3 | 97
Depressed nasal ridge 3 | 51
Feeding difficulties in infancy 3 | 175
Fibular polydactyly 3 | 12
Full cheeks 3 | 50
Gait abnormality 3 | 135
Hepatic Fibrosis, Congenital 3 | 10
Hyperplasia of cheeks 3 | 50
Hypertrophy of cheeks 3 | 50
Hypoplastic mandible condyle 3 | 275
Lens Opacities 3 | 231
Lobar Holoprosencephaly 3 | 20
Low set ears 3 | 181
Low-set, posteriorly rotated ears 3 | 110
Mandibular hypoplasia 3 | 275
Maternal oligohydramnios 3 | 31
Microcornea 3 | 47
Micrognathism 3 | 275
Microphthalmos 3 | 100
Molar tooth sign on MRI 3 | 12
Multicystic Dysplastic Kidney 3 | 52
Obesity 3 | 678
Oligohydramnios 3 | 52
Optic Atrophy 3 | 242
Orbital separation excessive 3 | 244
Postaxial foot polydactyly 3 | 12
Puffy cheeks 3 | 50
Retinal Dystrophies 3 | 33
Sclerocornea 3 | 29
Sloping forehead 3 | 46
Small head 3 | 374
Talipes 3 | 20
Talipes foot deformities 3 | 20
Ulnar polydactyly of fingers 3 | 47
Uranostaphyloschisis 3 | 167
astrocytic glioma 3 | 2,597
group 3 medulloblastoma 3 | 4,104
primitive neuroectodermal tumor 3 | 3,035
psoriasis 3 | 6,694
Bile duct proliferation 2 | 9
Coloboma of iris 2 | 38
Electroretinogram abnormal 2 | 95
Feeding difficulties 2 | 127
Intrauterine retardation 2 | 176
Retinitis Pigmentosa 2 | 226

Tissue

Blood and immune system 13 | 16,909
Cardiovascular System 13 | 15,192
Digestive Tract 13 | 17,369
Endocrine System 13 | 18,159
Female tissues 13 | 17,400
Liver and Pancreas 13 | 16,750
Male tissues 13 | 17,142
Nervous System 13 | 16,725
Respiratory system 13 | 16,393
Skin and soft tissues 13 | 17,230
Urinary Tract 13 | 16,678

Target Family

Non-IDG 13 | 12,091

GO Component

MKS complex 13 | 13
nucleus 5,097 | 5,097
cytosol 4,834 | 4,834
plasma membrane 4,414 | 4,414
cytoplasm 4,094 | 4,094
integral component of membrane 3,665 | 3,665
nucleoplasm 2,996 | 2,996
extracellular exosome 2,767 | 2,767
membrane 1,917 | 1,917
extracellular region 1,833 | 1,833
integral component of plasma m... 1,418 | 1,418
extracellular space 1,380 | 1,380
mitochondrion 1,281 | 1,281
endoplasmic reticulum 938 | 938
Golgi apparatus 904 | 904
endoplasmic reticulum membrane 879 | 879
nucleolus 824 | 824
Golgi membrane 676 | 676
perinuclear region of cytoplas... 644 | 644
cell surface 608 | 608
intracellular membrane-bounded... 593 | 593
intracellular 566 | 566
protein complex 552 | 552
cell junction 502 | 502
mitochondrial inner membrane 432 | 432
centrosome 427 | 427
focal adhesion 387 | 387
nuclear speck 371 | 371
mitochondrial matrix 354 | 354
cytoskeleton 352 | 352
dendrite 330 | 330
neuronal cell body 325 | 325
lysosomal membrane 301 | 301
microtubule 298 | 298
apical plasma membrane 292 | 292
endoplasmic reticulum lumen 291 | 291
extracellular matrix 267 | 267
proteinaceous extracellular ma... 267 | 267
nuclear body 266 | 266
axon 250 | 250
external side of plasma membra... 247 | 247
endosome 239 | 239
nuclear membrane 239 | 239
neuron projection 235 | 235
early endosome 234 | 234
lysosome 222 | 222
cytoplasmic vesicle 217 | 217
membrane raft 215 | 215
postsynaptic membrane 210 | 210
early endosome membrane 203 | 203
postsynaptic density 202 | 202
endosome membrane 197 | 197
actin cytoskeleton 196 | 196
basolateral plasma membrane 184 | 184
nuclear chromatin 184 | 184
blood microparticle 175 | 175
synapse 172 | 172
transcription factor complex 172 | 172
cilium 171 | 171
lamellipodium 168 | 168
mitochondrial outer membrane 163 | 163
nuclear envelope 160 | 160
microtubule organizing center 153 | 153
cell-cell junction 149 | 149
myelin sheath 144 | 144
midbody 141 | 141
phagocytic vesicle membrane 138 | 138
recycling endosome membrane 138 | 138
microtubule cytoskeleton 134 | 134
vesicle 134 | 134
cytoplasmic vesicle membrane 133 | 133
ER to Golgi transport vesicle ... 132 | 132
receptor complex 132 | 132
trans-Golgi network 131 | 131
fibrillar center 128 | 128
centriole 124 | 124
ficolin-1-rich granule lumen 124 | 124
late endosome membrane 122 | 122
intracellular ribonucleoprotei... 121 | 121
Z disc 119 | 119
bicellular tight junction 119 | 119
late endosome 119 | 119
cell cortex 118 | 118
dendritic spine 118 | 118
growth cone 116 | 116
secretory granule lumen 116 | 116
spindle 116 | 116
spindle pole 115 | 115
chromosome 114 | 114
perikaryon 114 | 114
recycling endosome 109 | 109
anchored component of membrane 108 | 108
endomembrane system 108 | 108
integral component of lumenal ... 108 | 108
ciliary basal body 105 | 105
nuclear matrix 105 | 105
integral component of endoplas... 103 | 103
secretory granule membrane 103 | 103
Golgi lumen 101 | 101
melanosome 101 | 101
ubiquitin ligase complex 100 | 100

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Transmembrane protein 17 TMEM17 Tbio Non-IDG 0.61 0.56 52
Meckel syndrome type 1 protein MKS1 Tbio Non-IDG -1.31837 20.5 59
Centrosomal protein of 290 kDa CEP290 Tbio Non-IDG -2.03755 107.9 152
B9 domain-containing protein 1 B9D1 Tdark Non-IDG -0.61316 3.72 43
Coiled-coil and C2 domain-containing protein 2A CC2D2A Tbio Non-IDG -1.23748 18.2 17
Transmembrane protein 216 TMEM216 Tbio Non-IDG -1.05847 10.9 0
Meckelin TMEM67 Tbio Non-IDG -1.52954 36.3 53
Transmembrane protein 231 TMEM231 Tdark Non-IDG -0.38803 3.58 32
Tectonic-1 TCTN1 Tbio Non-IDG -0.95910 11.0 57
Jouberin AHI1 Tbio Non-IDG -1.96515 97.5 151