Property Summary

NCBI Gene PubMed Count 135
PubMed Score 91.43
PubTator Score 125.98

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal CNS myelination 4
Abnormally small eyeball 97
Arteriosclerosis 11
Arthralgia 90
Atrophic condition of skin 25
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Basal cell carcinoma 54
Basal cell nevi 23
Basal ganglia calcification 27
Brittle hair 25
Cachexia 50
Cataract 297
Cerebellar Ataxia 304
Cerebellar degeneration 103
Congenital Nonbullous Ichthyosiform Erythroderma 16
Congenital deafness 185
Conjunctival telangiectasis 14
Cryptorchidism 296
Deafness 198
Decreased fertility 33
Decreased nerve conduction velocity 35
Decreased size of eyeball 97
Dental abnormalities 60
Developmental regression 95
Dilated ventricles (finding) 121
Dry skin 75
Dull intelligence 645
Electroencephalogram abnormal 101
Erythema 58
Failure to gain weight 365
Fatigue 182
Fever 138
Flushing 60
Fractured hair 25
Fragile hair 25
Freckles 33
Hardened artery wall 6
Hearing Loss, Partial 185
Hydrocephalus 152
Hyperkeratosis 50
Hyperpigmented macules 42
Hyperreflexia 209
Hypogonadism 173
Impaired cognition 96
Increased cellular sensitivity to UV light 3
Infratentorial atrophy 103
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 in childhood 95
Mental impairment 95
Microphthalmos 100
Muscle Spasticity 195
Neurodevelopmental regression 95
Numerous pigmented freckles 4
Optic Atrophy 242
Papilloma 44
Pediatric failure to thrive 365
Peripheral Neuropathy 134
Peripheral demyelinating neuropathy 7
Photosensitivity of skin 51
Poikiloderma 14
Poor school performance 645
Precociously senile appearance 18
Progressive mental retardation 37
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Reduced tensile strength of hair 25
Retinal Diseases 55
Retinitis Pigmentosa 226
Sensorineural Hearing Loss (disorder) 284
Short stature 531
Small head 374
Squamous cell carcinoma of skin 11
Strabismus 270
Telangiectasia of the skin 39
Thin skin 47
Tiger tail banding 1
Tooth Abnormalities 69
Trichothiodystrophy Syndromes 6
Wizened face 9
Xeroderma pigmentosum, group B 1
Xerosis 75
hearing impairment 199
hypopigmented skin patch 59
Disease Target Count P-value
osteosarcoma 7950 1.6e-05
ovarian cancer 8520 2.4e-05
Pick disease 1894 3.2e-05
lung cancer 4740 9.2e-04
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Cockayne syndrome 60 5.983 3.0

Expression

  Differential Expression (4)

Disease log2 FC p
lung cancer 1.200 9.2e-04
osteosarcoma -1.275 1.6e-05
ovarian cancer 1.500 2.4e-05
Pick disease -1.300 3.2e-05

Gene RIF (70)

AA Sequence

MGKRDRADRDKKKSRKRHYEDEEDDEEDAPGNDPQEAVPSAAGKQVDESGTKVDEYGAKDYRLQMPLKDD      1 - 70
HTSRPLWVAPDGHIFLEAFSPVYKYAQDFLVAIAEPVCRPTHVHEYKLTAYSLYAAVSVGLQTSDITEYL     71 - 140
RKLSKTGVPDGIMQFIKLCTVSYGKVKLVLKHNRYFVESCHPDVIQHLLQDPVIRECRLRNSEGEATELI    141 - 210
TETFTSKSAISKTAESSGGPSTSRVTDPQGKSDIPMDLFDFYEQMDKDEEEEEETQTVSFEVKQEMIEEL    211 - 280
QKRCIHLEYPLLAEYDFRNDSVNPDINIDLKPTAVLRPYQEKSLRKMFGNGRARSGVIVLPCGAGKSLVG    281 - 350
VTAACTVRKRCLVLGNSAVSVEQWKAQFKMWSTIDDSQICRFTSDAKDKPIGCSVAISTYSMLGHTTKRS    351 - 420
WEAERVMEWLKTQEWGLMILDEVHTIPAKMFRRVLTIVQAHCKLGLTATLVREDDKIVDLNFLIGPKLYE    421 - 490
ANWMELQNNGYIAKVQCAEVWCPMSPEFYREYVAIKTKKRILLYTMNPNKFRACQFLIKFHERRNDKIIV    491 - 560
FADNVFALKEYAIRLNKPYIYGPTSQGERMQILQNFKHNPKINTIFISKVGDTSFDLPEANVLIQISSHG    561 - 630
GSRRQEAQRLGRVLRAKKGMVAEEYNAFFYSLVSQDTQEMAYSTKRQRFLVDQGYSFKVITKLAGMEEED    631 - 700
LAFSTKEEQQQLLQKVLAATDLDAEEEVVAGEFGSRSSQASRRFGTMSSMSGADDTVYMEYHSSRSKAPS    701 - 770
KHVHPLFKRFRK                                                              771 - 782
//

Text Mined References (143)

PMID Year Title