Property Summary

Ligand Count 121
NCBI Gene PubMed Count 1,678
PubMed Score 3805.66
PubTator Score 4357.85

Knowledge Summary

Patent (27,459)

TINX Plot

  Disease (8)

Disease Target Count
'Bulging' epiphyses 3
'Bulging' of the costochondral junction 2
Abdominal wall muscle weakness 6
Abnormality of adipose tissue 3
Abnormality of the hip bone 16
Abnormality of the metaphyses 48
Abnormality of the thorax 19
Abnormally-shaped vertebrae 31
Alkaline phosphatase serum increased 29
Alopecia universalis 16
Autosomal recessive predisposition 1442
Bipolar Disorder 666
Bone Cysts 12
Bone pain 42
Chronic Lymphocytic Leukemia 262
Defective enamel matrix 35
Deformed rib cage 2
Delayed epiphyseal ossification 10
Delayed maturation of end part of long bone 10
Dental Enamel Hypoplasia 43
Dental caries 164
Depressive Symptoms 28
Dermatologic disorders 93
Difficulty standing 3
Difficulty walking 28
Dysplasia of tooth enamel 35
Enlargement of the ankles 3
Enlargement of the wrists 5
Failure to gain weight 365
Femoral bowing 20
Fibular bowing 5
Flat back of the head 26
Flat occiput 26
Frequent fractures 53
Frontal bossing 157
Gait abnormality 135
Genu varum 29
Growth delay 114
Growth failure 114
Growth retardation 115
Hyperparathyroidism, Secondary 7
Hypertensive disease 292
Hypocalcaemic seizure 4
Increased fracture rate 53
Increased serum 1,25-dihydroxyvitamin D3 2
Increased serum parathyroid hormone 14
Infantile onset 238
Irritation - emotion 68
Late tooth eruption 61
Long narrow head 75
Lytic lesion 32
Mammary Neoplasms 425
Metaphyseal irregularity 23
Motor delay 147
Muscle hypotonia 571
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nephrolithiasis 56
No development of motor milestones 147
Pediatric failure to thrive 365
Poor growth 114
Precocious exfoliation of primary tooth 11
Protuberant abdomen 16
Rotting teeth 73
Rough bone trabeculation 11
Schizophrenia 1160
Short stature 531
Skin Abnormalities 37
Sparse bone trabeculae 3
Subperiosteal erosions due to secondary hyperparathyroidism 2
Thin bony cortex 9
Thin dental enamel 35
Tibial bowing 19
Turridolichocephaly 75
Varying degree of multiple fractures 53
Very poor growth 114
Widely patent fontanels and sutures 12
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Degenerative disc disease 35 3.483 1.7
Leprosy 73 0.0 5.0

Expression

  Differential Expression (18)

Disease log2 FC p
tuberculosis -1.800 2.0e-05
aldosterone-producing adenoma 1.331 2.7e-02
ductal carcinoma in situ 1.200 6.5e-03
fibroadenoma 1.800 2.7e-02
intraductal papillary-mucinous neoplasm ... 2.000 1.2e-02
invasive ductal carcinoma 1.299 5.5e-03
lung adenocarcinoma 1.200 2.0e-07
lung cancer -1.900 4.6e-04
lung carcinoma -1.400 1.7e-23
malignant mesothelioma -2.500 2.6e-06
nephrosclerosis -1.612 1.8e-02
osteosarcoma -2.189 7.5e-03
ovarian cancer 4.100 8.9e-06
pancreatic cancer 1.200 1.3e-03
pituitary cancer -1.100 6.2e-04
posterior fossa group A ependymoma 1.500 6.0e-09
primary pancreatic ductal adenocarcinoma 1.257 4.2e-03
ulcerative colitis -1.100 5.2e-06

PDB (46)

Gene RIF (1903)

AA Sequence

MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTCPFNGDCRITK      1 - 70
DNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSLRPKLSEEQQRIIAILLDAHH     71 - 140
KTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSGDSSSSCSDHCITSSDMMDSSSFSNLDLSEE    141 - 210
DSDDPSVTLELSQLSMLPHLADLVSYSIQKVIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSNESFT    211 - 280
MDDMSWTCGNQDYKYRVSDVTKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAA    281 - 350
LIEAIQDRLSNTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLE    351 - 420
VFGNEIS                                                                   421 - 427
//

Text Mined References (1688)

PMID Year Title