Property Summary

Ligand Count 4,186
NCBI Gene PubMed Count 178
PubMed Score 3526.06
PubTator Score 3644.41

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Osteopetrosis 43
Intellectual disability 1016
Abnormal vision 52
Abnormality of epiphysis morphology 39
Abnormality of the renal tubule 7
Anemia 365
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Aseptic Necrosis of Bone 8
Aseptic necrosis 8
Autosomal recessive predisposition 1442
Basal ganglia calcification 27
Bone infarction 8
Bone necrosis 9
Bone pain 42
Camurati-Engelmann Syndrome 5
Cerebral calcification 43
Class III malocclusion 78
Cognitive delay 608
Compression of optic nerve 7
Decreased bone mineral density Z score 31
Decreased platelet count 111
Dental abnormalities 60
Dental caries 164
Distal Renal Tubular Acidosis 3
Dull intelligence 645
Elevated serum acid phosphatase 4
Enlargement of skull bones 7
Excessive growth of skull bones 7
Extramedullary Hematopoiesis (disorder) 5
Extramedullary erythropoiesis 5
Failure to gain weight 365
Frequent fractures 53
Global developmental delay 608
Hemoglobin low 124
Hepatomegaly 285
Hepatosplenomegaly 22
Hyperostosis of cranial vault 7
Hypertrophy of cranial bones 7
Hypertrophy of lower jaw 78
Increased fracture rate 53
Increased size of mandible 78
Knee joint valgus deformity 56
Liver carcinoma 240
Low intelligence 645
Malocclusion 57
Mandibular hyperplasia 78
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Neuropathy 261
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 1
Pediatric failure to thrive 365
Periodic hypokalemic paresis 7
Peripheral Neuropathy 134
Poor school performance 645
Rotting teeth 73
Short stature 531
Splenomegaly 190
Squamous cell carcinoma of esophagus 77
Thick skull bones 7
Thrombocytopenia 197
Tooth Abnormalities 69
Varying degree of multiple fractures 53
mandibular excess (physical finding) 78

Expression

  Differential Expression (25)

Disease log2 FC p
active ulcerative colitis -1.808 4.6e-03
Barrett's esophagus 2.800 2.0e-02
Breast cancer -2.100 4.6e-03
colon cancer -2.900 1.8e-03
cystic fibrosis 1.500 2.1e-03
Down syndrome 2.100 1.0e-04
Duchenne muscular dystrophy -1.874 2.6e-07
gastric cancer 1.400 2.9e-03
group 4 medulloblastoma -1.300 1.7e-02
hepatocellular carcinoma 1.800 1.0e-04
intraductal papillary-mucinous adenoma (... 4.300 1.6e-04
intraductal papillary-mucinous neoplasm ... 3.500 8.5e-03
limb girdle muscular dystrophy 2A -1.336 3.5e-04
lung adenocarcinoma -1.600 2.6e-11
lung cancer -2.300 1.3e-03
lung carcinoma -1.500 8.3e-08
malignant mesothelioma 3.700 3.3e-08
medulloblastoma, large-cell -3.000 5.0e-05
mucosa-associated lymphoid tissue lympho... 1.733 3.0e-02
non-small cell lung cancer -2.031 1.9e-13
pancreatic cancer 1.900 5.9e-04
pancreatic carcinoma 1.900 5.9e-04
pituitary cancer -1.100 1.2e-02
tuberculosis -1.200 7.2e-03
uncontrolled asthma 2.000 2.5e-03

PDB (676)

Gene RIF (106)

AA Sequence

MSHHWGYGKHNGPEHWHKDFPIAKGERQSPVDIDTHTAKYDPSLKPLSVSYDQATSLRILNNGHAFNVEF      1 - 70
DDSQDKAVLKGGPLDGTYRLIQFHFHWGSLDGQGSEHTVDKKKYAAELHLVHWNTKYGDFGKAVQQPDGL     71 - 140
AVLGIFLKVGSAKPGLQKVVDVLDSIKTKGKSADFTNFDPRGLLPESLDYWTYPGSLTTPPLLECVTWIV    141 - 210
LKEPISVSSEQVLKFRKLNFNGEGEPEELMVDNWRPAQPLKNRQIKASFK                        211 - 260
//

Text Mined References (265)

PMID Year Title