Property Summary

NCBI Gene PubMed Count 55
PubMed Score 65.06
PubTator Score 73.00

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Schimke immunoosseous dysplasia 1 0.0 0.0
Disease Target Count
Abnormal immunoglobulin levels 2
Abnormality of T cells 2
Abnormality of epiphysis morphology 39
Anemia 365
Arteriosclerosis 11
Astigmatism 54
Autosomal recessive predisposition 1442
Bulbous nasal tip 48
Bulbous nose 48
Bullet vertebral body 17
Cafe au lait spots, multiple 17
Cellular immunodeficiency 17
Cloudy cornea 33
Coarse hair 31
Concave bridge of nose 195
Corneal stromal opacities 33
Decreased platelet count 111
Decreased size of teeth 62
Decreased width of tooth 59
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Fetal Growth Retardation 189
Fine hair 42
Focal glomerulosclerosis 37
Generalized osteopenia 99
Hardened artery wall 6
Hemoglobin low 124
High pitched voice 23
Hyperpigmented macules 42
Hypertensive disease 292
Increase in blood pressure 119
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Kidney Failure 111
Laterally displaced femoral heads 1
Lordosis 54
Lumbar lordosis 35
Lymphopenia 67
Melanocytic nevus 43
Microdontia (disorder) 59
Motor delay 147
Myopia 176
Nephrotic Syndrome 78
Neutrophil count decreased 47
No development of motor milestones 147
Noncancerous mole 28
Osteopenia 99
Ovoid vertebral bodies 17
Platyspondyly 56
Potato nose 48
Proteinuria 144
Protuberant abdomen 16
Raised TSH level 8
Recurrent infections 48
Renal Insufficiency 90
Renal failure in adulthood 76
Renal glomerular disease 12
Rough hair texture 31
Shallow acetabular fossae 5
Shallow acetabulum 5
Short neck 140
Short-trunked dwarfism 13
Small capital femoral epiphyses 10
Spondyloepiphyseal Dysplasia 7
Thoracic kyphosis 6
Thrombocytopenia 197
Transient Cerebral Ischemia 25
Waddling gait 34
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.6
Disease Target Count
Schimke immuno-osseous dysplasia 8

Expression

 GWAS Trait (1)

Gene RIF (42)

AA Sequence

MSLPLTEEQRKKIEENRQKALARRAEKLLAEQHQRTSSGTSIAGNPFQAKQGPSQNFPRESCKPVSHGVI      1 - 70
FKQQNLSSSSNADQRPHDSHSFQAKGIWKKPEEMPTACPGHSPRSQMALTGISPPLAQSPPEVPKQQLLS     71 - 140
YELGQGHAQASPEIRFTPFANPTHKPLAKPKSSQETPAHSSGQPPRDAKLEAKTAKASPSGQNISYIHSS    141 - 210
SESVTPRTEGRLQQKSGSSVQKGVNSQKGKCVRNGDRFQVLIGYNAELIAVFKTLPSKNYDPDTKTWNFS    211 - 280
MNDYSALMKAAQSLPTVNLQPLEWAYGSSESPSTSSEGQAGLPSAPSLSFVKGRCMLISRAYFEADISYS    281 - 350
QDLIALFKQMDSRRYDVKTRKWSFLLEEHSKLIAKVRCLPQVQLDPLPTTLTLAFASQLKKTSLSLTPDV    351 - 420
PEADLSEVDPKLVSNLMPFQRAGVNFAIAKGGRLLLADDMGLGKTIQAICIAAFYRKEWPLLVVVPSSVR    421 - 490
FTWEQAFLRWLPSLSPDCINVVVTGKDRLTAGLINIVSFDLLSKLEKQLKTPFKVVIIDESHFLKNSRTA    491 - 560
RCRAAMPVLKVAKRVILLSGTPAMSRPAELYTQIIAVKPTFFPQFHAFGLRYCDAKRMPWGWDYSGSSNL    561 - 630
GELKLLLEEAVMLRRLKSDVLSQLPAKQRKIVVIAPGRINARTRAALDAAAKEMTTKDKTKQQQKDALIL    631 - 700
FFNRTAEAKIPSVIEYILDLLESGREKFLVFAHHKVVLDAITQELERKHVQHIRIDGSTSSAEREDLCQQ    701 - 770
FQLSERHAVAVLSITAANMGLTFSSADLVVFAELFWNPGVLIQAEDRVHRIGQTSSVGIHYLVAKGTADD    771 - 840
YLWPLIQEKIKVLAEAGLSETNFSEMTESTDYLYKDPKQQKIYDLFQKSFEKEGSDMELLEAAESFDPGS    841 - 910
ASGTSGSSSQNMGDTLDESSLTASPQKKRRFEFFDNWDSFTSPL                              911 - 954
//

Text Mined References (63)

PMID Year Title