Property Summary

NCBI Gene PubMed Count 52
PubMed Score 100.71
PubTator Score 84.92

Knowledge Summary

Patent (4,605)

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Osteopetrosis 43 7.475 3.7
Osteopetrosis, Autosomal Recessive 4 1 0.0 0.0
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 pelvic girdle bone morphology 37
Abnormality of the metacarpal bones 17
Abnormality of the metaphyses 48
Abnormality of the ribs 32
Abnormality of the vertebral endplates 1
Anemia 365
Arthritis 290
Aseptic Necrosis of Bone 8
Aseptic necrosis 8
Autosomal recessive predisposition 1442
Bell Palsy 58
Big calvaria 147
Blister of skin 54
Body Temperature Changes 10
Bone infarction 8
Bone necrosis 9
Bone pain 42
Bowing of the long bones 31
Chronic rhinitis 7
Compression of optic nerve 7
Congenital deafness 185
Craniosynostosis 74
Deafness 198
Decreased bone mineral density Z score 31
Degenerative polyarthritis 115
Diffuse, symmetrical osteosclerosis 5
Elevated serum acid phosphatase 4
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Facial paralysis 18
Frequent fractures 53
Frontal bossing 157
Growth delay 114
Growth failure 114
Growth retardation 115
Hearing Loss, Partial 185
Hemoglobin low 124
Hepatomegaly 285
Hepatosplenomegaly 22
Hydrocephalus 152
Increased bone density in skeletal bones 5
Increased fracture rate 53
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infantile malignant osteopetrosis 4
Knee joint valgus deformity 56
Late tooth eruption 61
Long bone fractures 2
Low Vision 174
Lymphadenopathy 62
Narrow thorax 53
Nystagmus 317
Opsoclonus 5
Optic Atrophy 242
Osteoarthritis of hip 6
Osteomyelitis of mandible 2
Osteopetrosis - intermediate type 2
Otitis Media 52
Pallor 40
Poor growth 114
Poor temperature regulation 10
Precocious exfoliation of primary tooth 11
Recurrent respiratory infections 141
Reticulocytosis 20
Short distal phalanges 50
Short stature 531
Skin bulla 54
Skull malformation 38
Splenomegaly 190
Tremor 113
Varying degree of multiple fractures 53
Very poor growth 114
Visual Impairment 174
hearing impairment 199
Disease Target Count P-value
psoriasis 6694 1.7e-04
diabetes mellitus 1728 3.3e-03
Disease Target Count Z-score Confidence
Osteoporosis 363 3.062 1.5

Expression

  Differential Expression (2)

Disease log2 FC p
diabetes mellitus -1.300 3.3e-03
psoriasis 1.400 1.7e-04

Protein-protein Interaction (1)

Gene RIF (37)

AA Sequence

MANVSKKVSWSGRDRDDEEAAPLLRRTARPGGGTPLLNGAGPGAARQSPRSALFRVGHMSSVELDDELLD      1 - 70
PDMDPPHPFPKEIPHNEKLLSLKYESLDYDNSENQLFLEEERRINHTAFRTVEIKRWVICALIGILTGLV     71 - 140
ACFIDIVVENLAGLKYRVIKGNIDKFTEKGGLSFSLLLWATLNAAFVLVGSVIVAFIEPVAAGSGIPQIK    141 - 210
CFLNGVKIPHVVRLKTLVIKVSGVILSVVGGLAVGKEGPMIHSGSVIAAGISQGRSTSLKRDFKIFEYFR    211 - 280
RDTEKRDFVSAGAAAGVSAAFGAPVGGVLFSLEEGASFWNQFLTWRIFFASMISTFTLNFVLSIYHGNMW    281 - 350
DLSSPGLINFGRFDSEKMAYTIHEIPVFIAMGVVGGVLGAVFNALNYWLTMFRIRYIHRPCLQVIEAVLV    351 - 420
AAVTATVAFVLIYSSRDCQPLQGGSMSYPLQLFCADGEYNSMAAAFFNTPEKSVVSLFHDPPGSYNPLTL    421 - 490
GLFTLVYFFLACWTYGLTVSAGVFIPSLLIGAAWGRLFGISLSYLTGAAIWADPGKYALMGAAAQLGGIV    491 - 560
RMTLSLTVIMMEATSNVTYGFPIMLVLMTAKIVGDVFIEGLYDMHIQLQSVPFLHWEAPVTSHSLTAREV    561 - 630
MSTPVTCLRRREKVGVIVDVLSDTASNHNGFPVVEHADDTQPARLQGLILRSQLIVLLKHKVFVERSNLG    631 - 700
LVQRRLRLKDFRDAYPRFPPIQSIHVSQDERECTMDLSEFMNPSPYTVPQEASLPRVFKLFRALGLRHLV    701 - 770
VVDNRNQVVGLVTRKDLARYRLGKRGLEELSLAQT                                       771 - 805
//

Text Mined References (58)

PMID Year Title