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 94
Arteriosclerosis 10
Arthralgia 85
Atrophic condition of skin 24
Atrophy of cerebellum 101
Autosomal recessive predisposition 1407
Basal cell carcinoma 54
Basal cell nevi 23
Basal ganglia calcification 25
Brittle hair 25
Cachexia 50
Cataract 290
Cerebellar Ataxia 302
Cerebellar degeneration 101
Congenital Nonbullous Ichthyosiform Erythroderma 16
Congenital deafness 180
Conjunctival telangiectasis 14
Cryptorchidism 287
Deafness 193
Decreased fertility 31
Decreased nerve conduction velocity 34
Decreased size of eyeball 94
Dental abnormalities 57
Developmental regression 94
Dilated ventricles (finding) 119
Dry skin 74
Dull intelligence 634
Electroencephalogram abnormal 100
Erythema 57
Failure to gain weight 359
Fatigue 176
Fever 136
Flushing 59
Fractured hair 25
Fragile hair 25
Freckles 33
Hardened artery wall 6
Hearing Loss, Partial 180
Hydrocephalus 148
Hyperkeratosis 50
Hyperpigmented macules 41
Hyperreflexia 208
Hypogonadism 169
Impaired cognition 95
Increased cellular sensitivity to UV light 3
Infratentorial atrophy 101
Intellectual disability 998
Keratitis 60
Lens Opacities 227
Loss of developmental milestones 94
Low intelligence 634
Melanoma 689
Mental Retardation 634
Mental deficiency 634
Mental deterioration in childhood 94
Mental impairment 95
Microphthalmos 95
Muscle Spasticity 192
Neurodevelopmental regression 94
Numerous pigmented freckles 4
Optic Atrophy 239
Papilloma 44
Pediatric failure to thrive 359
Peripheral Neuropathy 131
Peripheral demyelinating neuropathy 7
Photosensitivity of skin 51
Poikiloderma 14
Poor school performance 634
Precociously senile appearance 18
Progressive mental retardation 37
Psychomotor regression 94
Psychomotor regression beginning in infancy 94
Psychomotor regression in infants 94
Psychomotor regression, progressive 94
Reduced tensile strength of hair 25
Retinal Diseases 54
Retinitis Pigmentosa 223
Sensorineural Hearing Loss (disorder) 281
Short stature 514
Small head 366
Squamous cell carcinoma of skin 10
Strabismus 265
Telangiectasia of the skin 38
Thin skin 44
Tiger tail banding 1
Tooth Abnormalities 66
Trichothiodystrophy Syndromes 6
Wizened face 9
Xeroderma pigmentosum, group B 1
Xerosis 74
hearing impairment 194
hypopigmented skin patch 59
Disease Target Count P-value
osteosarcoma 7766 1.6e-05
ovarian cancer 8297 2.4e-05
Pick disease 1856 3.2e-05
lung cancer 4607 9.2e-04
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.8
Disease Target Count Z-score Confidence
Cockayne syndrome 59 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