Development Level

Tbio 1 | 11,445

IMPC Phenotype

abnormal nail morphology 1 | 8
preweaning lethality, complete... 1 | 979

Disease

Abnormality of the larynx 1 | 6
Abnormally small eyeball 1 | 97
Accessory spleen 1 | 7
Adrenal hypoplasia 1 | 12
Ambiguous genitalia due to virilization 1 | 9
Ambiguous genitalia, female 1 | 9
Ambiguous genitalia, male 1 | 9
Aplasia/Hypoplasia of the iris 1 | 10
Autosomal recessive predisposition 1 | 1,442
BARDET-BIEDL SYNDROME 13 1 | 1
Bardet-Biedl syndrome 1 1 | 22
Bile duct proliferation 1 | 9
Biparietal narrowing 1 | 28
Bowing of the long bones 1 | 31
Cerebellar Hypoplasia 1 | 61
Cerebellar vermis hypoplasia 1 | 24
Cerebral hypoplasia 1 | 3
Chorioretinal abnormality 1 | 21
Chubby cheeks 1 | 50
Cognitive delay 1 | 608
Coloboma of iris 1 | 38
Congenital absence of kidney 1 | 31
Congenital absence of spleen 1 | 10
Congenital clinodactyly 1 | 57
Congenital hypoplasia of lung 1 | 48
Congenital hypoplasia of ovary 1 | 30
Congenital hypoplasia of penis 1 | 176
Congenital malrotation of intestine 1 | 16
Congenital omphalocele 1 | 20
Corneal diameter decreased 1 | 47
Curvature of digit 1 | 57
Decreased size of eyeball 1 | 97
Decreased width of the skull 1 | 28
Defective or absent horizontal voluntary eye movements 1 | 25
Depressed nasal ridge 1 | 51
Dull intelligence 1 | 645
Electroretinogram abnormal 1 | 95
Elevated amniotic fluid alpha-fetoprotein 1 | 3
Familial aplasia of the vermis 1 | 19
Feeding difficulties 1 | 127
Feeding difficulties in infancy 1 | 175
Fibular polydactyly 1 | 12
Full cheeks 1 | 50
Gait abnormality 1 | 135
Global developmental delay 1 | 608
Hyperplasia of cheeks 1 | 50
Hyperpnea, episodic 1 | 7
Hypertrophy of cheeks 1 | 50
Hypoplastic bladder 1 | 3
Hypoplastic mandible condyle 1 | 275
Hypoplastic ovary 1 | 30
Increase in blood pressure 1 | 119
Intrauterine retardation 1 | 176
Joubert syndrome with ocular defect 1 | 4
Large placenta 1 | 2
Lens Opacities 1 | 231
Lobar Holoprosencephaly 1 | 20
Lobulated tongue 1 | 4
Long face 1 | 71
Low intelligence 1 | 645
Low set ears 1 | 181
Low-set, posteriorly rotated ears 1 | 110
Mandibular hypoplasia 1 | 275
Maternal oligohydramnios 1 | 31
Meckel Syndrome, Type 1 1 | 1
Meckel syndrome type 1 1 | 1
Meckel-Gruber syndrome 1 | 13
Mental and motor retardation 1 | 608
Mental deficiency 1 | 645
Microcornea 1 | 47
Molar tooth sign on MRI 1 | 12
Multicystic Dysplastic Kidney 1 | 52
Neck webbing 1 | 35
Oculomotor apraxia 1 | 25
Olfactory lobe absence 1 | 6
Orbital separation diminished 1 | 23
Polycystic Kidney - body part 1 | 18
Poor school performance 1 | 645
Postaxial foot polydactyly 1 | 12
Puffy cheeks 1 | 50
Radially deviated fingers 1 | 38
Retinal Dystrophies 1 | 33
Sclerocornea 1 | 29
Short neck 1 | 140
Short stature 1 | 531
Single umbilical artery 1 | 5
Sloping forehead 1 | 46
Small adrenal gland 1 | 12
Small genitalia 1 | 13
Small head 1 | 374
Talipes 1 | 20
Talipes foot deformities 1 | 20
Ulnar polydactyly of fingers 1 | 47
Uranostaphyloschisis 1 | 167
Ureteral anomalies 1 | 5
Uterine Anomalies 1 | 5
glioblastoma 1 | 5,792
group 3 medulloblastoma 1 | 4,104
lung cancer 1 | 4,740
primitive neuroectodermal tumor 1 | 3,035

Tissue

Blood and immune system 1 | 16,909
Cardiovascular System 1 | 15,192
Digestive Tract 1 | 17,369
Endocrine System 1 | 18,159
Female tissues 1 | 17,400
Liver and Pancreas 1 | 16,750
Male tissues 1 | 17,142
Nervous System 1 | 16,725
Respiratory system 1 | 16,393
Skin and soft tissues 1 | 17,230
Urinary Tract 1 | 16,678

Target Family

Non-IDG 1 | 12,091

GO Process

regulation of smoothened signa... 1 | 1
transcription, DNA-templated 1,742 | 1,742
regulation of transcription, D... 1,135 | 1,135
G-protein coupled receptor sig... 1,053 | 1,053
signal transduction 1,005 | 1,005
positive regulation of transcr... 932 | 932
negative regulation of transcr... 683 | 683
positive regulation of transcr... 529 | 529
apoptotic process 511 | 511
cell differentiation 511 | 511
negative regulation of transcr... 492 | 492
neutrophil degranulation 484 | 484
negative regulation of apoptot... 479 | 479
positive regulation of cell pr... 470 | 470
innate immune response 469 | 469
multicellular organism develop... 460 | 460
cell adhesion 458 | 458
immune response 426 | 426
viral process 405 | 405
negative regulation of cell pr... 398 | 398
spermatogenesis 389 | 389
intracellular signal transduct... 376 | 376
inflammatory response 373 | 373
cell proliferation 366 | 366
post-translational protein mod... 356 | 356
protein transport 348 | 348
protein ubiquitination 347 | 347
cell division 345 | 345
regulation of transcription fr... 345 | 345
protein phosphorylation 334 | 334
nervous system development 321 | 321
positive regulation of apoptot... 320 | 320
response to drug 303 | 303
cell-cell signaling 300 | 300
positive regulation of gene ex... 297 | 297
transcription from RNA polymer... 286 | 286
protein deubiquitination 271 | 271
cell cycle 268 | 268
regulation of immune response 259 | 259
transport 255 | 255
regulation of apoptotic proces... 250 | 250
MAPK cascade 242 | 242
cell surface receptor signalin... 239 | 239
mRNA splicing, via spliceosome 236 | 236
protein polyubiquitination 222 | 222
angiogenesis 220 | 220
chemical synaptic transmission 219 | 219
cellular response to DNA damag... 217 | 217
proteolysis 217 | 217
proteasome-mediated ubiquitin-... 210 | 210
adaptive immune response 209 | 209
intracellular protein transpor... 209 | 209
DNA repair 206 | 206
leukocyte migration 206 | 206
protein homooligomerization 206 | 206
rRNA processing 204 | 204
extracellular matrix organizat... 198 | 198
visual perception 198 | 198
positive regulation of ERK1 an... 194 | 194
cellular protein metabolic pro... 192 | 192
brain development 188 | 188
axon guidance 186 | 186
Fc-epsilon receptor signaling ... 182 | 182
keratinization 182 | 182
cell migration 181 | 181
defense response to virus 181 | 181
positive regulation of cell mi... 179 | 179
regulation of cell proliferati... 177 | 177
in utero embryonic development 176 | 176
Wnt signaling pathway 175 | 175
cilium assembly 175 | 175
blood coagulation 170 | 170
RNA splicing 169 | 169
translation 169 | 169
mRNA processing 168 | 168
protein autophosphorylation 168 | 168
aging 167 | 167
response to hypoxia 166 | 166
T cell receptor signaling path... 164 | 164
heart development 164 | 164
negative regulation of canonic... 164 | 164
positive regulation of I-kappa... 164 | 164
ubiquitin-dependent protein ca... 164 | 164
ER to Golgi vesicle-mediated t... 162 | 162
protein stabilization 160 | 160
response to lipopolysaccharide 160 | 160
transcription initiation from ... 160 | 160
defense response to bacterium 159 | 159
protein folding 159 | 159
sensory perception of smell 157 | 157
homophilic cell adhesion via p... 156 | 156
transmembrane transport 154 | 154
negative regulation of gene ex... 151 | 151
interferon-gamma-mediated sign... 150 | 150
receptor-mediated endocytosis 150 | 150
ion transmembrane transport 148 | 148
peptidyl-serine phosphorylatio... 148 | 148
positive regulation of protein... 148 | 148
antigen processing and present... 143 | 143
DNA replication 142 | 142
cell cycle arrest 142 | 142

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Meckel syndrome type 1 protein MKS1 Tbio Non-IDG -1.31837 20.5 59