Property Summary

Ligand Count 32
NCBI Gene PubMed Count 233
PubMed Score 113.91
PubTator Score 283.75

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal nasal morphology 16
Abnormality of immune system physiology 16
Abnormally small eyeball 97
Arteriosclerosis 11
Arthralgia 90
Arthrogryposis 54
Atrophic condition of skin 25
Autosomal recessive predisposition 1442
Basal cell carcinoma 54
Basal cell nevi 23
Broad flat nasal bridge 236
CAMFAK syndrome 4
Cachexia 50
Cataract 297
Cerebellar Ataxia 304
Cerebellar hypoplasia and atrophy 41
Cerebral atrophy 178
Cerebral calcification 43
Cerebrooculofacioskeletal Syndrome 1 4
Cognitive delay 608
Congenital clubfoot 109
Congenital deafness 185
Conjunctival telangiectasis 14
Cryptorchidism 296
Deafness 198
Death in early childhood 82
Death in infancy 82
Decreased size of eyeball 97
Decreased to absent deep tendon reflexes 42
Defective DNA repair after ultraviolet radiation damage 7
Dental abnormalities 60
Developmental regression 95
Dry skin 75
Dull intelligence 645
Edema 81
Electroencephalogram abnormal 101
Epilepsy 792
Erythema 58
Everted lower lip vermilion 54
Failure to gain weight 365
Fatigue 182
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Fever 138
Flexion contracture of proximal interphalangeal joint 75
Flushing 60
Freckles 33
Global developmental delay 608
Global developmental delay, severe 47
Hardened artery wall 6
Hearing Loss, Partial 185
Highly variable severity 157
Hydrocephalus 152
Hyperkeratosis 50
Hyperpigmented macules 42
Hypogonadism 173
Hypoplastic mandible condyle 275
Impaired cognition 96
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intrauterine retardation 176
Joint stiffness 84
Keratitis 62
Lens Opacities 231
Loss of developmental milestones 95
Low Vision 174
Low intelligence 645
Low set ears 181
Mandibular hypoplasia 275
Melanoma 711
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental deterioration in childhood 95
Mental impairment 95
Micrognathism 275
Microphthalmos 100
Muscle Hypertonia 88
Muscle Spasticity 195
Muscle hypotonia 571
Nasal bridge wide 236
Neurodevelopmental regression 95
Numerous pigmented freckles 4
Optic Atrophy 242
Papilloma 44
Pediatric failure to thrive 365
Pena Shokeir syndrome Type 2 4
Peripheral demyelinating neuropathy 7
Photosensitivity of skin 51
Poikiloderma 14
Poor school performance 645
Precociously senile appearance 18
Progressive mental retardation 37
Prominent metopic ridge 15
Protruding lower lip 54
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Reduced fetal movement 51
Retinal Diseases 55
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe psychomotor retardation 47
Short neck 140
Short stature 531
Small head 374
Squamous cell carcinoma of skin 11
Strabismus 270
Telangiectasia of the skin 39
Thin skin 47
Tooth Abnormalities 69
Variable expressivity 157
Vertical Talus 25
Visual Impairment 174
Xerosis 75
hearing impairment 199
hypopigmented skin patch 59
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Kidney cancer 2613 0.0 0.5
Disease Target Count Z-score Confidence
Cockayne syndrome 60 4.854 2.4
Disease Target Count Z-score Confidence
Cancer 2499 3.895 1.9

Expression

  Differential Expression (6)

 GO Component (2)

Gene RIF (199)

AA Sequence

MGVQGLWKLLECSGRQVSPEALEGKILAVDISIWLNQALKGVRDRHGNSIENPHLLTLFHRLCKLLFFRI      1 - 70
RPIFVFDGDAPLLKKQTLVKRRQRKDLASSDSRKTTEKLLKTFLKRQAIKTAFRSKRDEALPSLTQVRRE     71 - 140
NDLYVLPPLQEEEKHSSEEEDEKEWQERMNQKQALQEEFFHNPQAIDIESEDFSSLPPEVKHEILTDMKE    141 - 210
FTKRRRTLFEAMPEESDDFSQYQLKGLLKKNYLNQHIEHVQKEMNQQHSGHIRRQYEDEGGFLKEVESRR    211 - 280
VVSEDTSHYILIKGIQAKTVAEVDSESLPSSSKMHGMSFDVKSSPCEKLKTEKEPDATPPSPRTLLAMQA    281 - 350
ALLGSSSEEELESENRRQARGRNAPAAVDEGSISPRTLSAIKRALDDDEDVKVCAGDDVQTGGPGAEEMR    351 - 420
INSSTENSDEGLKVRDGKGIPFTATLASSSVNSAEEHVASTNEGREPTDSVPKEQMSLVHVGTEAFPISD    421 - 490
ESMIKDRKDRLPLESAVVRHSDAPGLPNGRELTPASPTCTNSVSKNETHAEVLEQQNELCPYESKFDSSL    491 - 560
LSSDDETKCKPNSASEVIGPVSLQETSSIVSVPSEAVDNVENVVSFNAKEHENFLETIQEQQTTESAGQD    561 - 630
LISIPKAVEPMEIDSEESESDGSFIEVQSVISDEELQAEFPETSKPPSEQGEEELVGTREGEAPAESESL    631 - 700
LRDNSERDDVDGEPQEAEKDAEDSLHEWQDINLEELETLESNLLAQQNSLKAQKQQQERIAATVTGQMFL    701 - 770
ESQELLRLFGIPYIQAPMEAEAQCAILDLTDQTSGTITDDSDIWLFGARHVYRNFFNKNKFVEYYQYVDF    771 - 840
HNQLGLDRNKLINLAYLLGSDYTEGIPTVGCVTAMEILNEFPGHGLEPLLKFSEWWHEAQKNPKIRPNPH    841 - 910
DTKVKKKLRTLQLTPGFPNPAVAEAYLKPVVDDSKGSFLWGKPDLDKIREFCQRYFGWNRTKTDESLFPV    911 - 980
LKQLDAQQTQLRIDSFFRLAQQEKEDAKRIKSQRLNRAVTCMLRKEKEAAASEIEAVSVAMEKEFELLDK    981 - 1050
AKGKTQKRGITNTLEESSSLKRKRLSDSKGKNTCGGFLGETCLSESSDGSSSEDAESSSLMNVQRRTAAK   1051 - 1120
EPKTSASDSQNSVKEAPVKNGGATTSSSSDSDDDGGKEKMVLVTARSVFGKKRRKLRRARGRKRKT       1121 - 1186
//

Text Mined References (236)

PMID Year Title