Development Level

Tbio 4 | 11,445
Tdark 1 | 6,588

IMPC Phenotype

decreased grip strength 1 | 116
increased startle reflex 1 | 112
prenatal lethality prior to he... 1 | 87
preweaning lethality, complete... 1 | 979

Disease

Autosomal recessive predisposition 3 | 1,442
Congenital muscular dystrophy 3 | 29
Creatine phosphokinase serum increased 3 | 110
Electroencephalogram abnormal 3 | 101
Elevated creatine kinase 3 | 110
Epilepsy 3 | 792
Highly variable severity 3 | 157
Infantile onset 3 | 238
Muscle biopsy shows dystrophic changes 3 | 39
Muscle hypotonia 3 | 571
Muscular dystrophy 3 | 75
Optic Atrophy 3 | 242
Seizures 3 | 596
Small head 3 | 374
Strabismus 3 | 270
Variable expressivity 3 | 157
Abnormality of the voice 2 | 46
Abnormally small eyeball 2 | 97
Absent auditory canals 2 | 23
Absent external auditory canals 2 | 23
Atresia of the external auditory canal 2 | 23
Atretic auditory canal 2 | 23
Atrophic retina 2 | 7
Bell Palsy 2 | 58
Blind Vision 2 | 111
Blindness, Legal 2 | 110
Cerebellar dysplasia 2 | 8
Clouding of corneal stroma 2 | 50
Cobblestone Lissencephaly 2 | 8
Cognitive delay 2 | 608
Congenital joint contractures 2 | 9
Congenital keratoglobus 2 | 14
Congenital muscular dystrophy (disorder) 2 | 14
Congenital ocular coloboma (disorder) 2 | 40
Congenital small ears 2 | 48
Contracture 2 | 96
Contracture of joint 2 | 93
Corneal Opacity 2 | 53
Corneal diameter increased 2 | 13
Decreased size of eyeball 2 | 97
Dull intelligence 2 | 645
Electromyogram abnormal 2 | 49
Excessive daytime somnolence 2 | 14
Facial Paresis 2 | 59
Facial muscle weakness of muscles innervated by CN VII 2 | 58
Flexion contracture 2 | 93
Flexion contractures of joints 2 | 93
Glaucoma 2 | 239
Globe of eye large 2 | 20
Highly variable clinical phenotype 2 | 150
Highly variable phenotype and severity 2 | 150
Highly variable phenotype, even within families 2 | 150
Hydrophthalmos 2 | 19
Hypoplasia of corpus callosum 2 | 90
Hypoplasia of the brainstem 2 | 22
Hypoplasia of the optic nerve 2 | 17
Hypoplastic male genitalia 2 | 7
Hypotonia, severe 2 | 33
Impaired cognition 2 | 96
Irido-corneo-trabecular dysgenesis (disorder) 2 | 10
Lens Opacities 2 | 231
Lissencephaly 2 | 69
Low Vision 2 | 174
MUSCULAR DYSTROPHY, CONGENITAL, 1C 2 | 9
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 2 | 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 2 | 7
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 2 | 7
Macroglossia 2 | 65
Meningoencephalocele 2 | 4
Mental and motor retardation 2 | 608
Mental deficiency 2 | 645
Mental impairment 2 | 95
Motor delay 2 | 147
Muscle Hypertonia 2 | 88
Muscle eye brain disease 2 | 8
Muscular Dystrophy, Congenital, Type 1D 2 | 5
Myopathy 2 | 185
Myopia 2 | 176
No development of motor milestones 2 | 147
Pachygyria 2 | 41
Phenotypic variability 2 | 150
Polymicrogyria 2 | 48
Poor school performance 2 | 645
Posterior fossa cyst 2 | 8
Profound Mental Retardation 2 | 31
Profound intellectual disabilities 2 | 31
RENAL ADYSPLASIA 2 | 25
Renal dysplasia 2 | 28
Retinal Degeneration 2 | 106
Retinal Detachment 2 | 51
Retinal Dysplasia 2 | 11
Severe mental retardation (I.Q. 20-34) 2 | 99
Speech Disorders 2 | 58
Spinal rigidity 2 | 13
Uranostaphyloschisis 2 | 167
Visual Impairment 2 | 174
Walker-Warburg congenital muscular dystrophy 2 | 14
Walker-Warburg syndrome 2 | 20
limb-girdle muscular dystrophy 2 | 37
psoriasis 2 | 6,694

Tissue

Blood and immune system 5 | 16,909
Cardiovascular System 5 | 15,192
Digestive Tract 5 | 17,369
Endocrine System 5 | 18,159
Female tissues 5 | 17,400
Liver and Pancreas 5 | 16,750
Male tissues 5 | 17,142
Nervous System 5 | 16,725
Respiratory system 5 | 16,393
Skin and soft tissues 5 | 17,230
Urinary Tract 5 | 16,678

Target Family

Enzyme 3 | 4,145
Non-IDG 2 | 12,091

GO Function

dolichyl-phosphate-mannose-pro... 5 | 5
metal ion binding 2,256 | 2,256
DNA binding 1,481 | 1,481
ATP binding 1,477 | 1,477
RNA binding 1,383 | 1,383
identical protein binding 1,084 | 1,084
zinc ion binding 828 | 828
transcription factor activity,... 816 | 816
protein homodimerization activ... 801 | 801
calcium ion binding 690 | 690
G-protein coupled receptor act... 658 | 658
protein heterodimerization act... 473 | 473
olfactory receptor activity 425 | 425
protein kinase binding 410 | 410
chromatin binding 378 | 378
receptor binding 374 | 374
sequence-specific DNA binding 374 | 374
GTP binding 372 | 372
protein serine-threonine kinas... 360 | 360
RNA polymerase II core promote... 346 | 346
enzyme binding 340 | 340
ubiquitin protein ligase bindi... 301 | 301
transcription factor binding 297 | 297
GTPase activity 286 | 286
GTPase activator activity 281 | 281
cadherin binding 277 | 277
transcriptional activator acti... 274 | 274
actin binding 272 | 272
ubiquitin-protein transferase ... 260 | 260
transcription coactivator acti... 249 | 249
serine-type endopeptidase acti... 246 | 246
protein domain specific bindin... 241 | 241
protein complex binding 231 | 231
structural molecule activity 229 | 229
microtubule binding 212 | 212
nucleic acid binding 210 | 210
signal transducer activity 208 | 208
transcription regulatory regio... 205 | 205
RNA polymerase II regulatory r... 204 | 204
receptor activity 202 | 202
transmembrane signaling recept... 202 | 202
ubiquitin protein ligase activ... 202 | 202
transcription corepressor acti... 200 | 200
magnesium ion binding 197 | 197
calmodulin binding 194 | 194
protein C-terminus binding 191 | 191
protein kinase activity 182 | 182
carbohydrate binding 178 | 178
RNA polymerase II transcriptio... 174 | 174
cytokine activity 171 | 171
antigen binding 169 | 169
growth factor activity 162 | 162
heparin binding 161 | 161
protein dimerization activity 161 | 161
structural constituent of ribo... 161 | 161
actin filament binding 151 | 151
iron ion binding 139 | 139
transcriptional activator acti... 139 | 139
Rab GTPase binding 138 | 138
transcriptional repressor acti... 135 | 135
transporter activity 134 | 134
heme binding 129 | 129
ATPase activity 128 | 128
lipid binding 127 | 127
SH3 domain binding 125 | 125
protein tyrosine kinase activi... 122 | 122
ion channel binding 118 | 118
mRNA binding 118 | 118
Ras guanyl-nucleotide exchange... 116 | 116
metalloendopeptidase activity 115 | 115
unfolded protein binding 113 | 113
integrin binding 112 | 112
histone binding 111 | 111
protease binding 108 | 108
histone deacetylase binding 107 | 107
structural constituent of cyto... 107 | 107
guanyl-nucleotide exchange fac... 106 | 106
protein N-terminus binding 106 | 106
peptide antigen binding 103 | 103
hormone activity 96 | 96
serine-type endopeptidase inhi... 96 | 96
odorant binding 94 | 94
kinase binding 92 | 92
single-stranded DNA binding 92 | 92
chaperone binding 91 | 91
oxidoreductase activity 91 | 91
protein tyrosine phosphatase a... 91 | 91
PDZ domain binding 87 | 87
thiol-dependent ubiquitinyl hy... 86 | 86
kinase activity 84 | 84
transcriptional repressor acti... 84 | 84
beta-catenin binding 83 | 83
hydrolase activity 80 | 80
peptidase activity 80 | 80
protein binding, bridging 80 | 80
ATPase binding 79 | 79
double-stranded DNA binding 79 | 79
phospholipid binding 78 | 78
phosphatidylinositol binding 77 | 77
thiol-dependent ubiquitin-spec... 76 | 76
drug binding 75 | 75

This is where graphics are reside..
Name Gene Development Level Target Family Log Novelty  Pubmed Score  Antibody Count  Knowledge Availability 
Protein O-mannosyl-transferase 1 POMT1 Tbio Enzyme -1.57372 38.3 123
Stromal cell-derived factor 2-like protein 1 SDF2L1 Tdark Non-IDG -0.57145 4.35 62
Protein O-mannosyl-transferase 2 POMT2 Tbio Enzyme -1.48456 31.6 104
Dolichol-phosphate mannosyltransferase subunit 1 DPM1 Tbio Enzyme -2.44968 261.7 86
Stromal cell-derived factor 2 SDF2 Tbio Non-IDG -1.33159 22.7 117