Property Summary

NCBI Gene PubMed Count 35
PubMed Score 233.86
PubTator Score 40.71

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Anemia 365
Autosomal recessive predisposition 1442
Birth length less than 3rd percentile 6
Bulging forehead 66
Calvarial osteosclerosis 1
Cleft uvula 27
Concave bridge of nose 195
Congenital hypoparathyroidism 2
Congenital hypoplasia of penis 176
Convex nasal ridge 37
Cryptorchidism 296
Decreased calcification of skull 10
Defect of skull ossification 10
Defective tooth enamel 31
Delayed bone age 136
Delayed closure of the soft spot on the skull 11
Dental caries 164
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dilated ventricles (finding) 121
Dull intelligence 645
Dystrophic tooth enamel 31
Enamel abnormalities 31
Enophthalmos 75
Epilepsy 792
Fetal Growth Retardation 189
Frontal bossing 157
Hemoglobin low 124
High forehead 102
Hyperphosphatemia (disorder) 17
Hypocalcaemic seizure 4
Hypocalcemia 32
Hypomagnesemia 12
Hypoplastic feet 66
Hypoplastic mandible condyle 275
Increased susceptibility to bacterial infections 42
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Kenny-Caffey syndrome 2
Late closure of anterior fontanel 11
Long clavicle 7
Long philtrum 137
Low intelligence 645
Low set ears 181
Low-set, posteriorly rotated ears 110
Malformed pinnae 37
Mandibular hypoplasia 275
Mental Retardation 645
Mental deficiency 645
Micrognathism 275
Orbital separation excessive 244
Patchy osteosclerosis 1
Poor school performance 645
Posteriorly rotated ear 61
Postnatal growth retardation 57
Prominent forehead 66
Prone to bacterial infection 42
Proportionate short stature 4
Recurrent bacterial infection 42
Recurrent respiratory infections 141
Rotting teeth 73
SERUM PHOSPHATE ELEVATED 14
Seizures 596
Severe intrauterine growth retardation 3
Short hands 50
Short stature 531
Slender, gracile long tubular bones 21
Small hand 36
Small head 374
Sunken eyes 63
Tall forehead 102
Tetany 18
Thin clavicle 4
Thin lips 49
Thin rib 21
Disease Target Count P-value
psoriasis 6694 6.0e-05
invasive ductal carcinoma 2951 1.1e-04
group 3 medulloblastoma 4104 1.8e-04
osteosarcoma 7950 6.1e-04
ovarian cancer 8520 1.3e-03
lung cancer 4740 1.4e-03
medulloblastoma, large-cell 6241 2.3e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Obesity 678 0.0 2.2
Disease Target Count Z-score Confidence
Neurodegenerative disease 414 0.0 4.0

Expression

  Differential Expression (7)

Disease log2 FC p
group 3 medulloblastoma 1.200 1.8e-04
invasive ductal carcinoma 1.100 1.1e-04
lung cancer 1.600 1.4e-03
medulloblastoma, large-cell 1.200 2.3e-03
osteosarcoma -1.239 6.1e-04
ovarian cancer 1.400 1.3e-03
psoriasis -1.600 6.0e-05

 GO Function (1)

 GO Component (2)

 GWAS Trait (1)

Gene RIF (15)

AA Sequence

MSDTLTADVIGRRVEVNGEHATVRFAGVVPPVAGPWLGVEWDNPERGKHDGSHEGTVYFKCRHPTGGSFI      1 - 70
RPNKVNFGTDFLTAIKNRYVLEDGPEEDRKEQIVTIGNKPVETIGFDSIMKQQSQLSKLQEVSLRNCAVS     71 - 140
CAGEKGGVAEACPNIRKVDLSKNLLSSWDEVIHIADQLRHLEVLNVSENKLKFPSGSVLTGTLSVLKVLV    141 - 210
LNQTGITWAEVLRCVAGCPGLEELYLESNNIFISERPTDVLQTVKLLDLSSNQLIDENQLYLIAHLPRLE    211 - 280
QLILSDTGISSLHFPDAGIGCKTSMFPSLKYLVVNDNQISQWSFFNELEKLPSLRALSCLRNPLTKEDKE    281 - 350
AETARLLIIASIGQLKTLNKCEILPEERRRAELDYRKAFGNEWKQAGGHKDPEKNRLSEEFLTAHPRYQF    351 - 420
LCLKYGAPEDWELKTQQPLMLKNQLLTLKIKYPHQLDQKVLEKQLPGSMTIQKVKGLLSRLLKVPVSDLL    421 - 490
LSYESPKKPGREIELENDLKSLQFYSVENGDCLLVRW                                     491 - 527
//

Text Mined References (42)

PMID Year Title