Property Summary

Ligand Count 289
NCBI Gene PubMed Count 403
PubMed Score 712.31
PubTator Score 947.18

Knowledge Summary

Patent (175,967)

TINX Plot

  Disease (8)

Disease Target Count
Basal ganglia calcification 27
Abnormality of connective tissue 1
Abnormality of the metaphyses 48
Abnormality of the musculature 16
Abnormality of the thorax 19
Acro-Osteolysis 12
Adult onset 82
Athetosis 16
Blepharoptosis 231
Bone Cysts 12
Brachydactyly 156
Bradykinesia 34
Broad flat nasal bridge 236
Bulging forehead 66
Calcification of the small brain vessels 3
Calcium pyrophosphate deposition disease 13
Cerebral calcification 43
Chorea 29
Choreatic disease 52
Clouding of corneal stroma 50
Corneal Opacity 53
Decreased platelet count 111
Decreased projection of midface 105
Delayed bone age 136
Dense calcifications in the cerebellar dentate nucleus 3
Depressive disorder 409
Dilated ventricles (finding) 121
Downward slant of palpebral fissure 158
Dysarthria 192
Dysdiadochokinesis 25
Dystonia 164
Dystonic disease 106
Eosinophilia 28
Epilepsy 792
Exophthalmos 112
Fahr's syndrome (disorder) 4
Fetal Growth Retardation 189
Fetal overgrowth 16
Fibroma 18
Fibromatosis, Gingival 8
Forgetful 40
Fragile skin 18
Gait abnormality 135
Generalized osteopenia 99
Generalized overgrowth 16
Haemorrhage subcutaneous 10
Hair shaft abnormalities 30
Hepatomegaly 285
Hereditary gingival fibromatosis 8
Hyperkeratosis 50
Hyperopia 70
Hyperplasia of supraorbital margins 19
Hyperplasia of supraorbital ridge 19
Hyperreflexia 209
Hypertrophy of supraorbital margins 19
Hypertrophy of supraorbital ridge 19
Hypoplastic mandible condyle 275
Hypotrophic midface 105
Idiopathic gingival hyperplasia 8
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Late fontanel closure 28
Late tooth eruption 61
Leukemia, Myelomonocytic, Chronic 3
Limb dysmetria 4
Lipoatrophy 19
Long foot 8
Lung Neoplasms 232
Malformations of Cortical Development, Group II 31
Malignant neoplasm of skin 15
Mandibular hypoplasia 275
Mask-like facies 25
Memory Loss 40
Memory impairment 40
Mental deterioration 32
Micrognathism 275
Midface retrusion 105
Multiple, subcutaneous nodules 53
Muscle Rigidity 49
Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement 1
Myeloproliferative disease 16
Narrow nose 20
Nasal bridge wide 236
Osteopenia 99
Overgrowth 16
Parkinsonian Disorders 56
Pointed chin 33
Postural instability 19
Progressive disorder 142
Progressive neurologic deterioration 19
Prominent eyes 96
Prominent forehead 66
Prominent globes 96
Prominent supraorbital ridges 19
Protruding eyes 96
Psychotic Disorders 151
Raised TSH level 8
Schizoaffective Disorder 55
Schizophrenia 1160
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Skin Neoplasms 69
Skin hyperelastic 32
Skull malformation 38
Slender, gracile long tubular bones 21
Small head 374
Small midface 105
Sparse hair 59
Subcutaneous nodule 53
Thin calvarium 1
Thin lips 49
Thin skin 47
Thin skull bone 1
Thin upper lip vermilion 67
Thin, sparse hair 59
Thoracolumbar scoliosis 4
Thrombocytopenia 197
Tremor 113
Uncoordinated limb movement 4
Urinary Incontinence 50
abnormal growth 26
hair abnormalities (non-specific) 30
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Disease Target Count Z-score Confidence
Cancer 2499 5.388 2.7

Expression

  Differential Expression (9)

Disease log2 FC p
Breast cancer 1.200 5.3e-07
cystic fibrosis -2.351 4.5e-06
gastric carcinoma 2.100 4.5e-03
interstitial cystitis 1.400 2.6e-03
invasive ductal carcinoma -1.200 4.3e-03
malignant mesothelioma 2.500 8.2e-08
pancreatic cancer 1.500 1.8e-03
primary pancreatic ductal adenocarcinoma 1.627 4.2e-03
urothelial carcinoma 1.100 3.0e-02

Gene RIF (259)

AA Sequence

MRLPGAMPALALKGELLLLSLLLLLEPQISQGLVVTPPGPELVLNVSSTFVLTCSGSAPVVWERMSQEPP      1 - 70
QEMAKAQDGTFSSVLTLTNLTGLDTGEYFCTHNDSRGLETDERKRLYIFVPDPTVGFLPNDAEELFIFLT     71 - 140
EITEITIPCRVTDPQLVVTLHEKKGDVALPVPYDHQRGFSGIFEDRSYICKTTIGDREVDSDAYYVYRLQ    141 - 210
VSSINVSVNAVQTVVRQGENITLMCIVIGNEVVNFEWTYPRKESGRLVEPVTDFLLDMPYHIRSILHIPS    211 - 280
AELEDSGTYTCNVTESVNDHQDEKAINITVVESGYVRLLGEVGTLQFAELHRSRTLQVVFEAYPPPTVLW    281 - 350
FKDNRTLGDSSAGEIALSTRNVSETRYVSELTLVRVKVAEAGHYTMRAFHEDAEVQLSFQLQINVPVRVL    351 - 420
ELSESHPDSGEQTVRCRGRGMPQPNIIWSACRDLKRCPRELPPTLLGNSSEEESQLETNVTYWEEEQEFE    421 - 490
VVSTLRLQHVDRPLSVRCTLRNAVGQDTQEVIVVPHSLPFKVVVISAILALVVLTIISLIILIMLWQKKP    491 - 560
RYEIRWKVIESVSSDGHEYIYVDPMQLPYDSTWELPRDQLVLGRTLGSGAFGQVVEATAHGLSHSQATMK    561 - 630
VAVKMLKSTARSSEKQALMSELKIMSHLGPHLNVVNLLGACTKGGPIYIITEYCRYGDLVDYLHRNKHTF    631 - 700
LQHHSDKRRPPSAELYSNALPVGLPLPSHVSLTGESDGGYMDMSKDESVDYVPMLDMKGDVKYADIESSN    701 - 770
YMAPYDNYVPSAPERTCRATLINESPVLSYMDLVGFSYQVANGMEFLASKNCVHRDLAARNVLICEGKLV    771 - 840
KICDFGLARDIMRDSNYISKGSTFLPLKWMAPESIFNSLYTTLSDVWSFGILLWEIFTLGGTPYPELPMN    841 - 910
EQFYNAIKRGYRMAQPAHASDEIYEIMQKCWEEKFEIRPPFSQLVLLLERLLGEGYKKKYQQVDEEFLRS    911 - 980
DHPAILRSQARLPGFHGLRSPLDTSSVLYTAVQPNEGDNDYIIPLPDPKPEVADEGPLEGSPSLASSTLN    981 - 1050
EVNTSSTISCDSPLEPQDEPEPEPQLELQVEPEPELEQLPDSGCPAPRAEAEDSFL                 1051 - 1106
//

Text Mined References (416)

PMID Year Title