Property Summary

NCBI Gene PubMed Count 16
PubMed Score 16.79
PubTator Score 10.22

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Liver neoplasms 130 0.0 0.0
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8 1 0.0 0.0
Disease Target Count
Osteopetrosis 43
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
Bell Palsy 58
Big calvaria 147
Blister of skin 54
Body Temperature Changes 10
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
Decreased platelet count 111
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Failure to gain weight 365
Feeding difficulties 127
Frequent fractures 53
Frontal bossing 157
Growth delay 114
Growth failure 114
Growth retardation 115
Hearing Loss, Partial 185
Hemoglobin low 124
Hepatomegaly 285
Hydrocephalus 152
Increased fracture rate 53
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infantile malignant osteopetrosis 4
Late tooth eruption 61
Low Vision 174
Lymphadenopathy 62
Narrow thorax 53
Nystagmus 317
Opsoclonus 5
Optic Atrophy 242
Otitis Media 52
Pallor 40
Pediatric failure to thrive 365
Poor growth 114
Poor temperature regulation 10
Precocious exfoliation of primary tooth 11
Recurrent respiratory infections 141
Skin bulla 54
Skull malformation 38
Splenomegaly 190
Thrombocytopenia 197
Tremor 113
Varying degree of multiple fractures 53
Very poor growth 114
Visual Impairment 174
hearing impairment 199
Disease Target Count Z-score Confidence
Acquired metabolic disease 336 0.0 1.2

Expression

  Differential Expression (27)

Disease log2 FC p
astrocytic glioma -2.900 2.0e-03
atypical teratoid / rhabdoid tumor -2.400 2.1e-07
colon cancer 1.400 5.7e-03
cutaneous lupus erythematosus 2.600 2.6e-03
ependymoma -3.400 3.7e-03
gastric carcinoma 1.900 4.5e-02
glioblastoma -1.500 2.3e-02
group 3 medulloblastoma -2.800 1.5e-04
head and neck cancer and chronic obstruc... 1.900 9.0e-04
inflammatory breast cancer 1.100 4.4e-02
interstitial cystitis 2.300 3.9e-04
intraductal papillary-mucinous adenoma (... -2.300 7.5e-04
intraductal papillary-mucinous carcinoma... -1.800 1.2e-02
invasive ductal carcinoma 1.982 3.0e-05
lung cancer -1.900 7.6e-04
malignant mesothelioma 4.100 2.0e-09
medulloblastoma, large-cell -3.900 3.4e-06
non-small cell lung cancer -1.036 1.9e-07
oligodendroglioma -2.800 1.5e-02
ovarian cancer -1.300 4.6e-03
pancreatic ductal adenocarcinoma liver m... -1.077 6.6e-04
Parkinson's disease -1.500 1.6e-02
Pick disease -1.400 1.5e-02
primary Sjogren syndrome 2.500 8.1e-05
primitive neuroectodermal tumor -1.600 1.2e-02
psoriasis 1.100 1.3e-05
ulcerative colitis 2.300 2.2e-05

Gene RIF (9)

AA Sequence

MFPEQQKEEFVSVWVRDPRIQKEDFWHSYIDYEICIHTNSMCFTMKTSCVRRRYREFVWLRQRLQSNALL      1 - 70
VQLPELPSKNLFFNMNNRQHVDQRRQGLEDFLRKVLQNALLLSDSSLHLFLQSHLNSEDIEACVSGQTKY     71 - 140
SVEEAIHKFALMNRRFPEEDEEGKKENDIDYDSESSSSGLGHSSDDSSSHGCKVNTAPQES             141 - 201
//

Text Mined References (19)

PMID Year Title