Property Summary

NCBI Gene PubMed Count 186
PubMed Score 69.20
PubTator Score 213.09

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Acquired scoliosis 281
Almond-shaped eyes 23
Arteriosclerosis 11
Arthralgia 90
Ascites 22
Atrophic condition of skin 25
Autosomal recessive predisposition 1442
Basal cell carcinoma 54
Basal cell nevi 23
Biliary atresia 12
Bladder Neoplasm 112
Bone marrow hypocellularity 20
Cachexia 50
Cataract 297
Cerebellar Ataxia 304
Chromosome Breakage 36
Cockayne Syndrome, Type I 3
Cognitive delay 608
Congenital deafness 185
Conjunctival telangiectasis 14
Cryptorchidism 296
Curvature of spine 282
Deafness 198
Decreased platelet count 111
Defective DNA repair after ultraviolet radiation damage 7
Defective enamel matrix 35
Dental Enamel Hypoplasia 43
Dental abnormalities 60
Developmental regression 95
Dry skin 75
Dull intelligence 645
Dwarfism 37
Dysplasia of tooth enamel 35
Electroencephalogram abnormal 101
Elevated hepatic transaminases 81
Enophthalmos 75
Erythema 58
Esophageal atresia 43
Failure to gain weight 365
Fatigue 182
Fever 138
Flushing 60
Freckles 33
Global developmental delay 608
Hardened artery wall 6
Hearing Loss, Partial 185
Hepatic enzyme increased 81
High pitched voice 23
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hydrocephalus 152
Hyperkeratosis 50
Hyperpigmented macules 42
Hypertensive disease 292
Hypogonadism 173
Impaired cognition 96
Increase in blood pressure 119
Increased chromosomal breakage 27
Infantile onset 238
Intellectual disability 1016
Irregular hyperpigmentation 33
Keratitis 62
Lack of subcutaneous fatty tissue 2
Lens Opacities 231
Leukopenia 72
Liver Dysfunction 99
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Loss of developmental milestones 95
Low Vision 174
Low intelligence 645
Low set ears 181
Melanoma 711
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental deterioration in childhood 95
Mental impairment 95
Mild Mental Retardation 70
Muscle Spasticity 195
Neurodevelopmental regression 95
Numerous pigmented freckles 4
Optic Atrophy 242
Papilloma 44
Papule 43
Pediatric failure to thrive 365
Peripheral Neuropathy 134
Peripheral demyelinating neuropathy 7
Phenotypic variability 150
Photosensitivity of skin 51
Poikiloderma 14
Poor coordination 11
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
Pyridoxine-responsive sideroblastic anemia 17
Radial aplasia/hypoplasia 29
Retinal Diseases 55
Sensorineural Hearing Loss (disorder) 284
Short palpebral fissure 38
Short stature 531
Small head 374
Squamous cell carcinoma of skin 11
Strabismus 270
Subclinical abnormal liver function tests 81
Sunken eyes 63
Telangiectasia of the skin 39
Thin dental enamel 35
Thin skin 47
Thrombocytopenia 197
Thumb aplasia 16
Tooth Abnormalities 69
Tracheoesophageal Fistula 36
Transaminases increased 81
Visual Impairment 174
Xerosis 75
hearing impairment 199
hypopigmented skin patch 59
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Conduct disorder 33 0.0 0.9
Disease Target Count Z-score Confidence
Cockayne syndrome 60 4.039 2.0

Expression

  Differential Expression (11)

Disease log2 FC p
diabetes mellitus -1.100 6.1e-03
gastric cancer 1.100 2.1e-03
glioblastoma 1.100 7.3e-04
hepatocellular carcinoma 1.600 2.2e-05
medulloblastoma, large-cell 1.200 1.4e-04
osteosarcoma 2.161 6.2e-08
pancreatic cancer 1.100 5.9e-03
pancreatic carcinoma 1.100 5.9e-03
pancreatic ductal adenocarcinoma liver m... -1.369 4.7e-03
posterior fossa group B ependymoma 1.100 1.8e-04
psoriasis 1.400 1.0e-03

Protein-protein Interaction (1)

Gene RIF (165)

AA Sequence

MESGQPARRIAMAPLLEYERQLVLELLDTDGLVVCARGLGADRLLYHFLQLHCHPACLVLVLNTQPAEEE      1 - 70
YFINQLKIEGVEHLPRRVTNEITSNSRYEVYTQGGVIFATSRILVVDFLTDRIPSDLITGILVYRAHRII     71 - 140
ESCQEAFILRLFRQKNKRGFIKAFTDNAVAFDTGFCHVERVMRNLFVRKLYLWPRFHVAVNSFLEQHKPE    141 - 210
VVEIHVSMTPTMLAIQTAILDILNACLKELKCHNPSLEVEDLSLENAIGKPFDKTIRHYLDPLWHQLGAK    211 - 280
TKSLVQDLKILRTLLQYLSQYDCVTFLNLLESLRATEKAFGQNSGWLFLDSSTSMFINARARVYHLPDAK    281 - 350
MSKKEKISEKMEIKEGEETKKELVLESNPKWEALTEVLKEIEAENKESEALGGPGQVLICASDDRTCSQL    351 - 420
RDYITLGAEAFLLRLYRKTFEKDSKAEEVWMKFRKEDSSKRIRKSHKRPKDPQNKERASTKERTLKKKKR    421 - 490
KLTLTQMVGKPEELEEEGDVEEGYRREISSSPESCPEEIKHEEFDVNLSSDAAFGILKEPLTIIHPLLGC    491 - 560
SDPYALTRVLHEVEPRYVVLYDAELTFVRQLEIYRASRPGKPLRVYFLIYGGSTEEQRYLTALRKEKEAF    561 - 630
EKLIREKASMVVPEEREGRDETNLDLVRGTASADVSTDTRKAGGQEQNGTQQSIVVDMREFRSELPSLIH    631 - 700
RRGIDIEPVTLEVGDYILTPEMCVERKSISDLIGSLNNGRLYSQCISMSRYYKRPVLLIEFDPSKPFSLT    701 - 770
SRGALFQEISSNDISSKLTLLTLHFPRLRILWCPSPHATAELFEELKQSKPQPDAATALAITADSETLPE    771 - 840
SEKYNPGPQDFLLKMPGVNAKNCRSLMHHVKNIAELAALSQDELTSILGNAANAKQLYDFIHTSFAEVVS    841 - 910
KGKGKK                                                                    911 - 916
//

Text Mined References (192)

PMID Year Title