Property Summary

NCBI Gene PubMed Count 59
PubMed Score 93.54
PubTator Score 122.42

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Osteopetrosis, Autosomal Recessive 1 2 0.0 0.0
Disease Target Count
Osteopetrosis 43
Optic Atrophy 242
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
Alkaline phosphatase serum increased 29
Anemia 365
Autosomal recessive predisposition 1442
Bell Palsy 58
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
Chronic rhinitis 7
Compression of optic nerve 7
Congenital deafness 185
Craniosynostosis 74
Deafness 198
Decreased bone mineral density Z score 31
Dental caries 164
Epilepsy 792
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Facial paralysis 18
Failure to gain weight 365
Frequent fractures 53
Frontal bossing 157
Growth delay 114
Growth failure 114
Growth retardation 115
Hearing Loss, Partial 185
Hemoglobin low 124
Hepatomegaly 285
Hip joint varus deformity - observation 24
Hydrocephalus 152
Increased fracture rate 53
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infantile malignant osteopetrosis 4
Infection of bone 19
Late tooth eruption 61
Low Vision 174
Lymphadenopathy 62
Narrow thorax 53
Neutropenia, Severe Congenital, Autosomal Dominant 1 3
Nystagmus 317
Ophthalmoparesis 11
Opsoclonus 5
Osteomyelitis 42
Otitis Media 52
Pallor 40
Pancytopenia 45
Pathological fracture 20
Pediatric failure to thrive 365
Poor growth 114
Poor temperature regulation 10
Precocious exfoliation of primary tooth 11
Recurrent respiratory infections 141
Rotting teeth 73
Sandwich appearance of vertebral bodies 1
Seizures 596
Skin bulla 54
Skull malformation 38
Splayed metaphyses 19
Splenomegaly 190
Tetany 18
Tremor 113
Varying degree of multiple fractures 53
Very poor growth 114
Visual Impairment 174
hearing impairment 199
Disease Target Count P-value
lung carcinoma 2843 3.6e-29
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Severe congenital neutropenia 12 0.0 5.0
Disease Target Count Z-score Confidence
Bone giant cell tumor 1 3.026 1.5

Expression

  Differential Expression (1)

Disease log2 FC p
lung carcinoma -1.600 3.6e-29

Protein-protein Interaction (1)

Gene RIF (37)

AA Sequence

MGSMFRSEEVALVQLFLPTAAAYTCVSRLGELGLVEFRDLNASVSAFQRRFVVDVRRCEELEKTFTFLQE      1 - 70
EVRRAGLVLPPPKGRLPAPPPRDLLRIQEETERLAQELRDVRGNQQALRAQLHQLQLHAAVLRQGHEPQL     71 - 140
AAAHTDGASERTPLLQAPGGPHQDLRVNFVAGAVEPHKAPALERLLWRACRGFLIASFRELEQPLEHPVT    141 - 210
GEPATWMTFLISYWGEQIGQKIRKITDCFHCHVFPFLQQEEARLGALQQLQQQSQELQEVLGETERFLSQ    211 - 280
VLGRVLQLLPPGQVQVHKMKAVYLALNQCSVSTTHKCLIAEAWCSVRDLPALQEALRDSSMEEGVSAVAH    281 - 350
RIPCRDMPPTLIRTNRFTASFQGIVDAYGVGRYQEVNPAPYTIITFPFLFAVMFGDVGHGLLMFLFALAM    351 - 420
VLAENRPAVKAAQNEIWQTFFRGRYLLLLMGLFSIYTGFIYNECFSRATSIFPSGWSVAAMANQSGWSDA    421 - 490
FLAQHTMLTLDPNVTGVFLGPYPFGIDPIWSLAANHLSFLNSFKMKMSVILGVVHMAFGVVLGVFNHVHF    491 - 560
GQRHRLLLETLPELTFLLGLFGYLVFLVIYKWLCVWAARAASAPSILIHFINMFLFSHSPSNRLLYPRQE    561 - 630
VVQATLVVLALAMVPILLLGTPLHLLHRHRRRLRRRPADRQEENKAGLLDLPDASVNGWSSDEEKAGGLD    631 - 700
DEEEAELVPSEVLMHQAIHTIEFCLGCVSNTASYLRLWALSLAHAQLSEVLWAMVMRIGLGLGREVGVAA    701 - 770
VVLVPIFAAFAVMTVAILLVMEGLSAFLHALRLHWVEFQNKFYSGTGYKLSPFTFAATDD              771 - 830
//

Text Mined References (60)

PMID Year Title