Property Summary

NCBI Gene PubMed Count 200
PubMed Score 739.59
PubTator Score 478.87

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Arthralgia 90
Atrophic condition of skin 25
Autosomal recessive predisposition 1442
Cataract 297
Cerebellar Ataxia 304
Choreoathetoid movements 32
Choreoathetosis 32
Conjunctival telangiectasis 14
Conjunctivitis 53
Conjunctivitis, recurrent 37
Cryptorchidism 296
Decreased tendon reflex 122
Defective DNA repair after ultraviolet radiation damage 7
Dental abnormalities 60
Developmental regression 95
Dry skin 75
Dull intelligence 645
Ectropion 38
Electroencephalogram abnormal 101
Entropion 22
Erythema 58
Failure to gain weight 365
Fatigue 182
Fever 138
Flushing 60
Freckles 33
Hyperkeratosis 50
Hyperpigmented macules 42
Hypogonadism 173
Impaired cognition 96
Intellectual disability 1016
Keratitis 62
Lens Opacities 231
Loss of developmental milestones 95
Low intelligence 645
Melanoma 711
Mental Retardation 645
Mental deficiency 645
Mental deterioration 32
Mental deterioration in childhood 95
Mental impairment 95
Muscle Spasticity 195
Neurodevelopmental regression 95
Optic Atrophy 242
Papilloma 44
Pediatric failure to thrive 365
Photodysphoria 121
Photophobia 121
Photosensitivity of skin 51
Poikiloderma 14
Poor school performance 645
Progressive mental retardation 37
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Sensorineural Hearing Loss (disorder) 284
Small head 374
Spider Veins 17
Strabismus 270
Telangiectasia of the skin 39
Telangiectasis 36
Thin skin 47
Tooth Abnormalities 69
Xeroderma pigmentosum, group A 1
Xerosis 75
hypopigmented skin patch 59
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5

Expression

  Differential Expression (5)

Disease log2 FC p
intraductal papillary-mucinous neoplasm ... 1.500 7.3e-03
malignant mesothelioma 1.500 7.1e-07
osteosarcoma -1.234 5.2e-04
ovarian cancer -1.900 4.2e-10
progressive supranuclear palsy -1.100 1.8e-02

Protein-protein Interaction (4)

Gene RIF (171)

AA Sequence

MAAADGALPEAAALEQPAELPASVRASIERKRQRALMLRQARLAARPYSATAAAATGGMANVKAAPKIID      1 - 70
TGGGFILEEEEEEEQKIGKVVHQPGPVMEFDYVICEECGKEFMDSYLMNHFDLPTCDNCRDADDKHKLIT     71 - 140
KTEAKQEYLLKDCDLEKREPPLKFIVKKNPHHSQWGDMKLYLKLQIVKRSLEVWGSQEALEEAKEVRQEN    141 - 210
REKMKQKKFDKKVKELRRAVRSSVWKRETIVHQHEYGPEENLEDDMYRKTCTMCGHELTYEKM           211 - 273
//

Text Mined References (207)

PMID Year Title