Development Level

Tbio 4 | 11,651

IMPC Phenotype

abnormal kidney morphology 1 | 65
abnormal spleen morphology 1 | 55
abnormal urinary bladder morph... 1 | 11
cystolithiasis 1 | 3
enlarged kidney 1 | 14
enlarged spleen 1 | 41
enlarged urinary bladder 1 | 8
improved glucose tolerance 1 | 79
increased body length 1 | 32
polycystic kidney 1 | 15
small kidney 1 | 16

Disease

Autosomal recessive predisposition 3 | 1,442
Carcinoma 3 | 11,493
Kidney Failure 3 | 111
Nephrolithiasis 3 | 56
Renal Insufficiency 3 | 90
Renal failure in adulthood 3 | 76
atypical teratoid / rhabdoid tumor 3 | 5,112
Argininuria 2 | 2
Cerebral atrophy 2 | 178
Cognitive delay 2 | 608
Congenital neurologic anomalies 2 | 20
Cystinuria 2 | 18
Degenerative brain disorder 2 | 100
Epilepsy 2 | 792
Failure to gain weight 2 | 365
Frontal bossing 2 | 157
Global developmental delay 2 | 608
Growth delay 2 | 114
Growth failure 2 | 114
Growth retardation 2 | 115
Highly variable severity 2 | 157
Hyperlysinuria 2 | 3
Lysinuric protein intolerance 2 | 15
Mental and motor retardation 2 | 608
Muscle hypotonia 2 | 571
Ornithinuria 2 | 2
Pediatric failure to thrive 2 | 365
Poor growth 2 | 114
Recurrent urinary tract infection 2 | 24
Supratentorial atrophy 2 | 94
Variable expressivity 2 | 157
Very poor growth 2 | 114
diabetes mellitus 2 | 1,728
glioblastoma 2 | 5,792
medulloblastoma, large-cell 2 | 6,241
nephrosclerosis 2 | 333
osteosarcoma 2 | 7,950
pancreatic cancer 2 | 2,398
ulcerative colitis 2 | 1,819
Abnormal urinary amino-acid findings 1 | 38
Adult Fanconi syndrome 1 | 12
Aminoaciduria 1 | 38
Barrett's esophagus 1 | 182
Blepharoptosis 1 | 231
Chronic kidney disease stage 5 1 | 31
Constipation 1 | 181
Cystinosis 1 | 14
Deglutition Disorders 1 | 132
Dehydration 1 | 40
Delayed Puberty 1 | 97
Dyschezia 1 | 135
Exocrine pancreatic insufficiency 1 | 32
Fanconi syndrome 1 | 14
Fatigue 1 | 182
Glycosuria 1 | 29
Hair hypopigmentation 1 | 12
Hartnup disease 1 | 13
Hyperactive behavior 1 | 91
Hyperchloremic metabolic acidosis 1 | 5
Hypernasal voice 1 | 39
Hyperphagia 1 | 23
Hyperphosphaturia 1 | 21
Hypocalcemia 1 | 32
Hypohidrosis 1 | 34
Hypokalemia 1 | 52
Hypophosphatemia 1 | 40
Hypopigmentation disorder 1 | 25
Increased appetite (finding) 1 | 23
Irritation - emotion 1 | 68
Kidney Diseases 1 | 114
Knee joint valgus deformity 1 | 56
Long eyelashes 1 | 37
Long narrow head 1 | 75
Microscopic hematuria 1 | 9
Mitochondrial respiratory chain defects 1 | 15
Moderate mental retardation (I.Q. 35-49) 1 | 28
Narrow cranium shape 1 | 75
Narrow head shape 1 | 75
Narrow skull shape 1 | 75
Nasal voice 1 | 39
Nephritis, Tubulointerstitial 1 | 8
Pancreatic Insufficiency 1 | 13
Photodysphoria 1 | 121
Photophobia 1 | 121
Polydipsia 1 | 15
Polyuria 1 | 23
Progressive neurologic deterioration 1 | 19
Reduced fetal movement 1 | 51
Reduced visual acuity 1 | 63
Renal tubular disorder 1 | 12
Retinal Diseases 1 | 55
Retinitis pigmentosa 28 1 | 19
Retrognathia 1 | 54
Rickets 1 | 49
Serine deficiency 1 | 9
Spastic Quadriplegia 1 | 42
Turridolichocephaly 1 | 75
Urine phosphorous concentration above normal 1 | 21
X-linked cerebral adrenoleukodystrophy 1 | 116
facioscapulohumeral dystrophy 1 | 288

Tissue

Blood and immune system 4 | 16,909
Digestive Tract 4 | 17,369
Endocrine System 4 | 18,159
Female tissues 4 | 17,400
Liver and Pancreas 4 | 16,750
Male tissues 4 | 17,142
Nervous System 4 | 16,725
Respiratory system 4 | 16,393
Skin and soft tissues 4 | 17,230
Urinary Tract 4 | 16,678
Cardiovascular System 3 | 15,192

Target Family

Transporter 3 | 473
Non-IDG 1 | 12,091

GO Process

L-cystine transport 4 | 4
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 
b(0,+)-type amino acid transporter 1 SLC7A9 Tbio Transporter -1.94552 85.8 55
Neutral and basic amino acid transport protein rBAT SLC3A1 Tbio Transporter -2.60836 401.8 140
Cystinosin CTNS Tbio Non-IDG -2.31471 205.6 165
Neutral amino acid transporter A SLC1A4 Tbio Transporter -1.77799 59.3 148