Property Summary

Ligand Count 1
NCBI Gene PubMed Count 541
PubMed Score 4276.69
PubTator Score 1951.46

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal blistering of the skin 54
Abnormal visual evoked potential 26
Abnormality of epiphysis morphology 39
Abnormality of hair consistency 5
Abnormality of hair curl pattern 5
Abnormality of hair texture 5
Abnormality of hair volume 5
Abnormality of the metaphyses 48
Abnormality of the ribs 32
Anemia 365
Autosomal recessive predisposition 1442
Big calvaria 147
Blind Vision 111
Blindness, Legal 110
Blister of skin 54
Body Temperature Changes 10
Bone pain 42
Bowing of the long bones 31
Camurati-Engelmann Syndrome 5
Chronic Lymphocytic Leukemia 262
Chronic rhinitis 7
Chronic rhinitis due to narrow nasal airway 1
Class III malocclusion 78
Compression of optic nerve 7
Congenital deafness 185
Craniosynostosis 74
Deafness 198
Decreased bone mineral density Z score 31
Decreased platelet count 111
Dental caries 164
Enlargement of skull bones 7
Excessive growth of skull bones 7
Extramedullary Hematopoiesis (disorder) 5
Extramedullary erythropoiesis 5
Facial Paresis 59
Facial paralysis 18
Failure of exfoliation of primary tooth 8
Frequent fractures 53
Growth delay 114
Growth failure 114
Growth retardation 115
Hearing Loss, Partial 185
Hemoglobin low 124
Hepatomegaly 285
Hepatosplenomegaly 22
Hydrocephalus 152
Hyperostosis of cranial vault 7
Hypertrophy of cranial bones 7
Hypertrophy of lower jaw 78
Increased fracture rate 53
Increased head circumference 147
Increased size of cranium 147
Increased size of mandible 78
Increased size of skull 147
Infantile malignant osteopetrosis 4
Knee joint valgus deformity 56
Late tooth eruption 61
Low Vision 174
Lymphadenopathy 62
Lytic lesion 32
Mandibular hyperplasia 78
Narrow thorax 53
Nystagmus 317
Opsoclonus 5
Optic Atrophy 242
Osteomyelitis of mandible 2
Osteopetrosis, mild autosomal recessive form 1
Otitis Media 52
Pallor 40
Pancytopenia 45
Poor growth 114
Poor temperature regulation 10
Precocious exfoliation of primary tooth 11
Recurrent respiratory infections 141
Rotting teeth 73
Skin bulla 54
Skull malformation 38
Splenomegaly 190
Thick skull bones 7
Thrombocytopenia 197
Tremor 113
Varying degree of multiple fractures 53
Very poor growth 114
Visual Impairment 174
hearing impairment 199
mandibular excess (physical finding) 78
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5

Expression

  Differential Expression (12)

Disease log2 FC p
cystic fibrosis -1.100 3.5e-03
inflammatory breast cancer -1.400 9.4e-03
intraductal papillary-mucinous carcinoma... 1.900 5.4e-03
intraductal papillary-mucinous neoplasm ... 1.500 2.0e-02
lung cancer 1.800 2.9e-04
nasopharyngeal carcinoma -1.200 2.0e-03
osteosarcoma 1.340 4.1e-03
ovarian cancer 1.100 1.4e-09
pancreatic cancer 1.400 1.8e-03
pituitary cancer 1.100 2.9e-03
tuberculosis -1.100 9.6e-05
ulcerative colitis 1.400 9.1e-04

Protein-protein Interaction (4)

Gene RIF (530)

AA Sequence

MRRASRDYTKYLRGSEEMGGGPGAPHEGPLHAPPPPAPHQPPAASRSMFVALLGLGLGQVVCSVALFFYF      1 - 70
RAQMDPNRISEDGTHCIYRILRLHENADFQDTTLESQDTKLIPDSCRRIKQAFQGAVQKELQHIVGSQHI     71 - 140
RAEKAMVDGSWLDLAKRSKLEAQPFAHLTINATDIPSGSHKVSLSSWYHDRGWAKISNMTFSNGKLIVNQ    141 - 210
DGFYYLYANICFRHHETSGDLATEYLQLMVYVTKTSIKIPSSHTLMKGGSTKYWSGNSEFHFYSINVGGF    211 - 280
FKLRSGEEISIEVSNPSLLDPDQDATYFGAFKVRDID                                     281 - 317
//

Text Mined References (541)

PMID Year Title