Property Summary

NCBI Gene PubMed Count 175
PubMed Score 361.47
PubTator Score 188.26

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormal auditory evoked potential 7
Abnormal nasal morphology 16
Abnormal peripheral myelination 2
Abnormal pigmentation 25
Abnormal visual evoked potential 26
Abnormality of immune system physiology 16
Abnormally small eyeball 97
Absent reflex 92
Absent tendon reflex 92
Age related macular degeneration 72
Agenesis of corpus callosum 83
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anhidrosis 23
Atrophic condition of skin 25
Atrophy of cerebellum 103
Atypical scarring of skin 62
Auricular malformation 41
Autosomal recessive predisposition 1442
Basal ganglia calcification 27
Blepharophimosis 70
Broad flat nasal bridge 236
CAMFAK syndrome 4
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cerebellar Ataxia 304
Cerebellar Hypoplasia 61
Cerebellar calcifications 1
Cerebellar degeneration 103
Cerebellar hypoplasia and atrophy 41
Cerebral atrophy 178
Cerebral calcification 43
Choreoathetoid movements 32
Choreoathetosis 32
Class III malocclusion 78
Cloudy cornea 33
Cockayne Syndrome, Type I 3
Cockayne Syndrome, Type II 3
Cockayne Syndrome, Type III 2
Conduction disorder of the heart 79
Congenital Camptodactyly 40
Congenital hypoplasia of penis 176
Conjunctivitis 53
Conjunctivitis, recurrent 37
Contracture of joint of hand 30
Convex nasal bridge 57
Corneal diameter decreased 47
Corneal stromal opacities 33
Coxa valga 22
Coxa valga deformity 22
Cryptorchidism 296
Death in childhood 14
Death in early childhood 82
Death in infancy 82
Decreased joint mobility 53
Decreased nerve conduction velocity 35
Decreased size of eyeball 97
Decreased size of teeth 62
Decreased subcutaneous adipose tissue 13
Decreased tendon reflex 122
Decreased to absent deep tendon reflexes 42
Defective DNA repair after ultraviolet radiation damage 7
Degenerative brain disorder 100
Delayed eruption of primary teeth 10
Delayed myelination 22
Dental caries 164
Dry hair 7
Dry skin 75
Dull intelligence 645
Dwarfism 37
EKG abnormalities 78
Ectropion 38
Electrocardiogram abnormal 81
Electrocardiogram change 78
Enophthalmos 75
Entropion 22
Epilepsy 792
Everted lower lip vermilion 54
Failure to gain weight 365
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Flexion contracture - elbow 32
Flexion contracture of proximal interphalangeal joint 75
Foot crease 1
Freckles 33
GONADAL HYPOPLASIA 2
Gliosis 56
Global developmental delay, severe 47
Hair shaft abnormalities 30
Hepatomegaly 285
Hirsutism 47
Hydrocephalus, Normal Pressure 2
Hyperkyphosis 111
Hyperopia 70
Hypertensive disease 292
Hypertrophy of lower jaw 78
Hypogonadism 173
Hypoplasia of iris 10
Hypoplastic iliac wing 19
Hypoplastic mandible condyle 275
Hypoplastic pelvis 9
Increase in blood pressure 119
Increased cellular sensitivity to UV light 3
Increased size of mandible 78
Increased thickness of cranium 17
Infant, Small for Gestational Age 176
Infantile onset 238
Infratentorial atrophy 103
Intellectual disability 1016
Intrauterine retardation 176
Joint stiffness 84
Keratitis 62
Kidney Failure 111
Kyphoscoliosis deformity of spine 60
Kyphosis deformity of spine 114
Lacrimation decreased 3
Lens Opacities 231
Long philtrum 137
Longitudinal groove on soles 1
Loss of facial adipose tissue 4
Low Birth Weights 69
Low Vision 174
Low intelligence 645
Malocclusion 57
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Mental Retardation 645
Mental deficiency 645
Mental deterioration 32
Microcornea 47
Micrognathism 275
Muscle Hypertonia 88
Muscle Spasticity 195
Muscle Weakness 170
Muscle hypotonia 571
Nasal bridge wide 236
Nystagmus 317
Olivopontocerebellar Atrophies 6
Optic Atrophy 242
Osteoporosis 363
Patchy demyelination of subcortical white matter 2
Pediatric failure to thrive 365
Pena Shokeir syndrome Type 2 4
Peripheral Neuropathy 134
Peripheral dysmyelination 3
Photodysphoria 121
Photophobia 121
Photosensitivity of skin 51
Pigmentation anomalies of sun-exposed skin 1
Poikiloderma 14
Polyneuropathy 64
Poor school performance 645
Postnatal growth retardation 57
Premature aging syndrome 4
Profound Mental Retardation 31
Profound intellectual disabilities 31
Prominent metopic ridge 15
Prominent nasal bridge 57
Proteinuria 144
Protruding lower lip 54
Reflex, Deep Tendon, Absent 92
Renal Insufficiency 90
Renal failure in adulthood 76
Retinitis Pigmentosa 226
Rotting teeth 73
Sclerotic ivory phalangeal epiphyses 3
Second metatarsal posteriorly placed 1
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe failure to thrive 4
Severe psychomotor retardation 47
Short neck 140
Short stature 531
Simple ear 41
Slender nose 3
Sloping forehead 46
Small for gestational age (disorder) 69
Small head 374
Sparse hair 59
Spider Veins 17
Splenomegaly 190
Square pelvis 2
Strabismus 270
Subcortical white matter calcifications 1
Sunken eyes 63
Supratentorial atrophy 94
Telangiectasis 36
Thickened calvaria 17
Thin lips 49
Thin, sparse hair 59
Tooth hypoplasia 7
Tremor 113
UV-SENSITIVE SYNDROME 1 2
Vertical Talus 25
Visual Impairment 174
Wide spaced nipples 46
Wizened face 9
Xerosis 75
hair abnormalities (non-specific) 30
hearing impairment 199
mandibular excess (physical finding) 78
Disease Target Count P-value
tuberculosis 2010 3.3e-06
malignant mesothelioma 3232 3.8e-06
osteosarcoma 7950 4.0e-05
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.2
Kidney cancer 2613 0.0 0.8

Expression

  Differential Expression (3)

Disease log2 FC p
malignant mesothelioma 1.200 3.8e-06
osteosarcoma -1.191 4.0e-05
tuberculosis -1.300 3.3e-06

Gene RIF (144)

AA Sequence

MPNEGIPHSSQTQEQDCLQSQPVSNNEEMAIKQESGGDGEVEEYLSFRSVGDGLSTSAVGCASAAPRRGP      1 - 70
ALLHIDRHQIQAVEPSAQALELQGLGVDVYDQDVLEQGVLQQVDNAIHEASRASQLVDVEKEYRSVLDDL     71 - 140
TSCTTSLRQINKIIEQLSPQAATSRDINRKLDSVKRQKYNKEQQLKKITAKQKHLQAILGGAEVKIELDH    141 - 210
ASLEEDAEPGPSSLGSMLMPVQETAWEELIRTGQMTPFGTQIPQKQEKKPRKIMLNEASGFEKYLADQAK    211 - 280
LSFERKKQGCNKRAARKAPAPVTPPAPVQNKNKPNKKARVLSKKEERLKKHIKKLQKRALQFQGKVGLPK    281 - 350
ARRPWESDMRPEAEGDSEGEESEYFPTEEEEEEEDDEVEGAEADLSGDGTDYELKPLPKGGKRQKKVPVQ    351 - 420
EIDDDFFPSSGEEAEAASVGEGGGGGRKVGRYRDDGDEDYYKQRLRRWNKLRLQDKEKRLKLEDDSEESD    421 - 490
AEFDEGFKVPGFLFKKLFKYQQTGVRWLWELHCQQAGGILGDEMGLGKTIQIIAFLAGLSYSKIRTRGSN    491 - 560
YRFEGLGPTVIVCPTTVMHQWVKEFHTWWPPFRVAILHETGSYTHKKEKLIRDVAHCHGILITSYSYIRL    561 - 630
MQDDISRYDWHYVILDEGHKIRNPNAAVTLACKQFRTPHRIILSGSPMQNNLRELWSLFDFIFPGKLGTL    631 - 700
PVFMEQFSVPITMGGYSNASPVQVKTAYKCACVLRDTINPYLLRRMKSDVKMSLSLPDKNEQVLFCRLTD    701 - 770
EQHKVYQNFVDSKEVYRILNGEMQIFSGLIALRKICNHPDLFSGGPKNLKGLPDDELEEDQFGYWKRSGK    771 - 840
MIVVESLLKIWHKQGQRVLLFSQSRQMLDILEVFLRAQKYTYLKMDGTTTIASRQPLITRYNEDTSIFVF    841 - 910
LLTTRVGGLGVNLTGANRVVIYDPDWNPSTDTQARERAWRIGQKKQVTVYRLLTAGTIEEKIYHRQIFKQ    911 - 980
FLTNRVLKDPKQRRFFKSNDLYELFTLTSPDASQSTETSAIFAGTGSDVQTPKCHLKRRIQPAFGADHDV    981 - 1050
PKRKKFPASNISVNDATSSEEKSEAKGAEVNAVTSNRSDPLKDDPHMSSNVTSNDRLGEETNAVSGPEEL   1051 - 1120
SVISGNGECSNSSGTGKTSMPSGDESIDEKLGLSYKRERPSQAQTEAFWENKQMENNFYKHKSKTKHHSV   1121 - 1190
AEEETLEKHLRPKQKPKNSKHCRDAKFEGTRIPHLVKKRRYQKQDSENKSEAKEQSNDDYVLEKLFKKSV   1191 - 1260
GVHSVMKHDAIMDGASPDYVLVEAEANRVAQDALKALRLSRQRCLGAVSGVPTWTGHRGISGAPAGKKSR   1261 - 1330
FGKKRNSNFSVQHPSSTSPTEKCQDGIMKKEGKDNVPEHFSGRAEDADSSSGPLASSSLLAKMRARNHLI   1331 - 1400
LPERLESESGHLQEASALLPTTEHDDLLVEMRNFIAFQAHTDGQASTREILQEFESKLSASQSCVFRELL   1401 - 1470
RNLCTFHRTSGGEGIWKLKPEYC                                                  1471 - 1493
//

Text Mined References (188)

PMID Year Title