Property Summary

NCBI Gene PubMed Count 774
PubMed Score 365.76
PubTator Score 889.94

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormal nasal morphology 16
Abnormality of immune system physiology 16
Abnormality of the face 10
Abnormality of the thorax 18
Abnormally small eyeball 94
Arteriosclerosis 10
Arthralgia 85
Arthrogryposis 52
Asthma 370
Atrophic condition of skin 24
Autosomal recessive predisposition 1407
Basal cell carcinoma 54
Basal cell nevi 23
Bladder Neoplasm 106
Brittle hair 25
Broad flat nasal bridge 232
CAMFAK syndrome 4
Cachexia 50
Cataract 290
Cerebellar Ataxia 302
Cerebellar hypoplasia and atrophy 39
Cerebral atrophy 175
Cerebral calcification 42
Cerebrooculofacioskeletal Syndrome 1 4
Choreoathetoid movements 32
Choreoathetosis 32
Cognitive delay 596
Congenital Nonbullous Ichthyosiform Erythroderma 16
Congenital anomaly of face 54
Congenital deafness 180
Congenital hypoplasia of penis 168
Conjunctival telangiectasis 14
Conjunctivitis 51
Conjunctivitis, recurrent 35
Contracture 95
Contracture of joint 92
Cryptorchidism 287
Deafness 193
Death in childhood 14
Death in early childhood 82
Death in infancy 82
Decreased size of eyeball 94
Decreased tendon reflex 121
Decreased to absent deep tendon reflexes 42
Defective DNA repair after ultraviolet radiation damage 7
Dental abnormalities 57
Dermatologic disorders 88
Developmental regression 94
Disorder of face 10
Dry skin 74
Dull intelligence 634
Ectropion 36
Electroencephalogram abnormal 100
Enophthalmos 74
Entropion 22
Epilepsy 775
Erythema 57
Everted lower lip vermilion 54
Exfoliative dermatitis 23
Failure to gain weight 359
Fatigue 176
Feeding difficulties in infancy 174
Fetal Growth Retardation 186
Fever 136
Flexion contracture 92
Flexion contracture of proximal interphalangeal joint 74
Flexion contractures of joints 92
Flushing 59
Fractured hair 25
Fragile hair 25
Fragile nails 16
Freckles 33
Global developmental delay 596
Global developmental delay, severe 47
Hardened artery wall 6
Hearing Loss, Partial 180
Hydrocephalus 148
Hyperkeratosis 50
Hyperpigmented macules 41
Hypogonadism 169
Hypoplasia of scrotum 23
Hypoplastic mandible condyle 273
IgG Deficiency 22
Impaired cognition 95
Infant, Small for Gestational Age 174
Intellectual disability 998
Intestinal Obstruction 30
Intrauterine retardation 174
Joint stiffness 80
Keratitis 60
Kyphoscoliosis deformity of spine 59
Lack of subcutaneous fatty tissue 2
Large beaked nose 5
Lens Opacities 227
Loss of developmental milestones 94
Low Birth Weights 69
Low Vision 167
Low intelligence 634
Mandibular hypoplasia 273
Melanoma 689
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Mental deterioration 32
Mental deterioration in childhood 94
Mental impairment 95
Micrognathism 273
Microphthalmos 95
Muscle Hypertonia 88
Muscle Spasticity 192
Muscle hypotonia 562
Nasal bridge wide 232
Neurodevelopmental regression 94
Numerous pigmented freckles 4
Optic Atrophy 239
Papilloma 44
Pediatric failure to thrive 359
Pena Shokeir syndrome Type 2 4
Peripheral demyelinating neuropathy 7
Photodysphoria 117
Photophobia 117
Photosensitivity of skin 51
Poikiloderma 14
Poor school performance 634
Precociously senile appearance 18
Progressive mental retardation 37
Prominent metopic ridge 15
Protruding lower lip 54
Psychomotor regression 94
Psychomotor regression beginning in infancy 94
Psychomotor regression in infants 94
Psychomotor regression, progressive 94
Reactive airway disease 21
Recurrent infections 48
Reduced tensile strength of hair 25
Retinal Diseases 54
Seizures 584
Sensorineural Hearing Loss (disorder) 281
Severe psychomotor retardation 47
Short neck 139
Short stature 514
Small for gestational age (disorder) 69
Small head 366
Spider Veins 17
Squamous cell carcinoma 125
Squamous cell carcinoma of skin 10
Strabismus 265
Sunken eyes 62
Telangiectasia of the skin 38
Telangiectasis 35
Thin skin 44
Tooth Abnormalities 66
Trichothiodystrophy Syndromes 6
Vertical Talus 25
Visual Impairment 167
Xerosis 74
hearing impairment 194
hypopigmented skin patch 59
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 1.0
Disease Target Count Z-score Confidence
Cockayne syndrome 59 4.996 2.5

Expression

Gene RIF (828)

AA Sequence

MKLNVDGLLVYFPYDYIYPEQFSYMRELKRTLDAKGHGVLEMPSGTGKTVSLLALIMAYQRAYPLEVTKL      1 - 70
IYCSRTVPEIEKVIEELRKLLNFYEKQEGEKLPFLGLALSSRKNLCIHPEVTPLRFGKDVDGKCHSLTAS     71 - 140
YVRAQYQHDTSLPHCRFYEEFDAHGREVPLPAGIYNLDDLKALGRRQGWCPYFLARYSILHANVVVYSYH    141 - 210
YLLDPKIADLVSKELARKAVVVFDEAHNIDNVCIDSMSVNLTRRTLDRCQGNLETLQKTVLRIKETDEQR    211 - 280
LRDEYRRLVEGLREASAARETDAHLANPVLPDEVLQEAVPGSIRTAEHFLGFLRRLLEYVKWRLRVQHVV    281 - 350
QESPPAFLSGLAQRVCIQRKPLRFCAERLRSLLHTLEITDLADFSPLTLLANFATLVSTYAKGFTIIIEP    351 - 420
FDDRTPTIANPILHFSCMDASLAIKPVFERFQSVIITSGTLSPLDIYPKILDFHPVTMATFTMTLARVCL    421 - 490
CPMIIGRGNDQVAISSKFETREDIAVIRNYGNLLLEMSAVVPDGIVAFFTSYQYMESTVASWYEQGILEN    491 - 560
IQRNKLLFIETQDGAETSVALEKYQEACENGRGAILLSVARGKVSEGIDFVHHYGRAVIMFGVPYVYTQS    561 - 630
RILKARLEYLRDQFQIRENDFLTFDAMRHAAQCVGRAIRGKTDYGLMVFADKRFARGDKRGKLPRWIQEH    631 - 700
LTDANLNLTVDEGVQVAKYFLRQMAQPFHREDQLGLSLLSLEQLESEETLKRIEQIAQQL              701 - 760
//

Text Mined References (779)

PMID Year Title