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 19
Abnormally small eyeball 97
Arteriosclerosis 11
Arthralgia 90
Arthrogryposis 54
Asthma 385
Atrophic condition of skin 25
Autosomal recessive predisposition 1442
Basal cell carcinoma 54
Basal cell nevi 23
Bladder Neoplasm 112
Brittle hair 25
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
Choreoathetoid movements 32
Choreoathetosis 32
Cognitive delay 608
Congenital Nonbullous Ichthyosiform Erythroderma 16
Congenital anomaly of face 56
Congenital deafness 185
Congenital hypoplasia of penis 176
Conjunctival telangiectasis 14
Conjunctivitis 53
Conjunctivitis, recurrent 37
Contracture 96
Contracture of joint 93
Cryptorchidism 296
Deafness 198
Death in childhood 14
Death in early childhood 82
Death in infancy 82
Decreased size of eyeball 97
Decreased tendon reflex 122
Decreased to absent deep tendon reflexes 42
Defective DNA repair after ultraviolet radiation damage 7
Dental abnormalities 60
Dermatologic disorders 93
Developmental regression 95
Disorder of face 10
Dry skin 75
Dull intelligence 645
Ectropion 38
Electroencephalogram abnormal 101
Enophthalmos 75
Entropion 22
Epilepsy 792
Erythema 58
Everted lower lip vermilion 54
Exfoliative dermatitis 24
Failure to gain weight 365
Fatigue 182
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Fever 138
Flexion contracture 93
Flexion contracture of proximal interphalangeal joint 75
Flexion contractures of joints 93
Flushing 60
Fractured hair 25
Fragile hair 25
Fragile nails 16
Freckles 33
Global developmental delay 608
Global developmental delay, severe 47
Hardened artery wall 6
Hearing Loss, Partial 185
Hydrocephalus 152
Hyperkeratosis 50
Hyperpigmented macules 42
Hypogonadism 173
Hypoplasia of scrotum 24
Hypoplastic mandible condyle 275
IgG Deficiency 22
Impaired cognition 96
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intestinal Obstruction 31
Intrauterine retardation 176
Joint stiffness 84
Keratitis 62
Kyphoscoliosis deformity of spine 60
Lack of subcutaneous fatty tissue 2
Large beaked nose 5
Lens Opacities 231
Loss of developmental milestones 95
Low Birth Weights 69
Low Vision 174
Low intelligence 645
Mandibular hypoplasia 275
Melanoma 711
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental deterioration 32
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
Photodysphoria 121
Photophobia 121
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
Reactive airway disease 21
Recurrent infections 48
Reduced tensile strength of hair 25
Retinal Diseases 55
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe psychomotor retardation 47
Short neck 140
Short stature 531
Small for gestational age (disorder) 69
Small head 374
Spider Veins 17
Squamous cell carcinoma 129
Squamous cell carcinoma of skin 11
Strabismus 270
Sunken eyes 63
Telangiectasia of the skin 39
Telangiectasis 36
Thin skin 47
Tooth Abnormalities 69
Trichothiodystrophy Syndromes 6
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 1.0
Disease Target Count Z-score Confidence
Cockayne syndrome 60 4.996 2.5

Expression

Synonym

Accession P18074 Q2TB78 Q2YDY2 Q7KZU6 Q8N721
Symbols EM9
TTD
XPD
TTD1
COFS2
TFIIH

Gene

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