Property Summary

Ligand Count 62
NCBI Gene PubMed Count 217
PubMed Score 453.39
PubTator Score 273.82

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Osteomalacia 35
Rickets 49
Craniosynostosis 74
Hypercalcemia 59
Abnormality of the voice 46
Adult hypophosphatasia (disorder) 1
Anemia 365
Anorexia 43
Apnea 45
Autosomal recessive predisposition 1442
Beading of ribs 6
Blue sclera 32
Calcium pyrophosphate deposition disease 13
Childhood hypophosphatasia (disorder) 1
Constipation 181
Death in early childhood 82
Death in infancy 82
Dental abnormalities 60
Dental caries 164
Dyschezia 135
Elevated plasma pyrophosphate 1
Elevated urine pyrophosphate 1
Epilepsy 792
Exophthalmos 112
Failure to gain weight 365
Fever 138
Foot Deformities 30
Frequent fractures 53
Frontal bossing 157
Genu varum 29
Hemoglobin low 124
Hypercalciuria 27
Increased calcium level in kidney 21
Increased fracture rate 53
Increased susceptibility to fractures 21
Intracranial Hemorrhages 16
Irritation - emotion 68
Long narrow head 75
Low alkaline phosphatase 2
Metaphyseal cupping 10
Micromelia 58
Muscle hypotonia 571
Myopathy 185
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nephrocalcinosis 35
ODONTOHYPOPHOSPHATASIA (disorder) 1
Pathological fracture 20
Pediatric failure to thrive 365
Platyspondyly 56
Polyhydramnios 108
Precocious exfoliation of primary tooth 11
Premature loss of secondary teeth 2
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Recurrent respiratory infections 141
Rotting teeth 73
Short leg 3
Short limb dwarfism, disproportionate 22
Short ribs 30
Short stature 531
Skin dimple over apex of long bone angulation 1
Skull malformation 38
Soft calvaria 8
Stillbirth 17
Tooth Abnormalities 69
Turridolichocephaly 75
Unossified vertebral bodies 2
Varying degree of multiple fractures 53
Vertebral clefts 1
Vomiting 116
Waddling gait 34
Widely patent fontanels and sutures 12
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Disease of metabolism 18 0.0 3.0
Rheumatoid arthritis 1191 0.0 0.9

Expression

  Differential Expression (9)

Disease log2 FC p
axial spondyloarthropathy 1.500 3.6e-02
cystic fibrosis -1.827 5.0e-04
lung adenocarcinoma -1.300 3.0e-06
lung cancer -1.200 3.5e-02
lung carcinoma -2.900 2.4e-26
non-small cell lung cancer -1.538 4.2e-08
posterior fossa group B ependymoma -1.100 3.3e-05
psoriasis 1.200 3.4e-31
sarcoidosis -1.800 1.5e-02

Protein-protein Interaction (2)

Gene RIF (159)

AA Sequence

MISPFLVLAIGTCLTNSLVPEKEKDPKYWRDQAQETLKYALELQKLNTNVAKNVIMFLGDGMGVSTVTAA      1 - 70
RILKGQLHHNPGEETRLEMDKFPFVALSKTYNTNAQVPDSAGTATAYLCGVKANEGTVGVSAATERSRCN     71 - 140
TTQGNEVTSILRWAKDAGKSVGIVTTTRVNHATPSAAYAHSADRDWYSDNEMPPEALSQGCKDIAYQLMH    141 - 210
NIRDIDVIMGGGRKYMYPKNKTDVEYESDEKARGTRLDGLDLVDTWKSFKPRYKHSHFIWNRTELLTLDP    211 - 280
HNVDYLLGLFEPGDMQYELNRNNVTDPSLSEMVVVAIQILRKNPKGFFLLVEGGRIDHGHHEGKAKQALH    281 - 350
EAVEMDRAIGQAGSLTSSEDTLTVVTADHSHVFTFGGYTPRGNSIFGLAPMLSDTDKKPFTAILYGNGPG    351 - 420
YKVVGGERENVSMVDYAHNNYQAQSAVPLRHETHGGEDVAVFSKGPMAHLLHGVHEQNYVPHVMAYAACI    421 - 490
GANLGHCAPASSAGSLAAGPLLLALALYPLSVLF                                        491 - 524
//

Text Mined References (223)

PMID Year Title