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 6
Abnormal nasal morphology 16
Abnormal peripheral myelination 2
Abnormal pigmentation 24
Abnormal visual evoked potential 25
Abnormality of immune system physiology 16
Abnormally small eyeball 94
Absent reflex 90
Absent tendon reflex 90
Age related macular degeneration 71
Agenesis of corpus callosum 79
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anhidrosis 23
Atrophic condition of skin 24
Atrophy of cerebellum 101
Atypical scarring of skin 61
Auricular malformation 41
Autosomal recessive predisposition 1407
Basal ganglia calcification 25
Blepharophimosis 69
Broad flat nasal bridge 232
CAMFAK syndrome 4
Cardiac Arrhythmia 101
Cardiac conduction abnormalities 78
Cerebellar Ataxia 302
Cerebellar Hypoplasia 61
Cerebellar calcifications 1
Cerebellar degeneration 101
Cerebellar hypoplasia and atrophy 39
Cerebral atrophy 175
Cerebral calcification 42
Choreoathetoid movements 32
Choreoathetosis 32
Class III malocclusion 75
Cloudy cornea 32
Cockayne Syndrome, Type I 3
Cockayne Syndrome, Type II 3
Cockayne Syndrome, Type III 2
Conduction disorder of the heart 79
Congenital Camptodactyly 39
Congenital hypoplasia of penis 168
Conjunctivitis 51
Conjunctivitis, recurrent 35
Contracture of joint of hand 30
Convex nasal bridge 56
Corneal diameter decreased 46
Corneal stromal opacities 32
Coxa valga 22
Coxa valga deformity 22
Cryptorchidism 287
Death in childhood 14
Death in early childhood 82
Death in infancy 82
Decreased joint mobility 53
Decreased nerve conduction velocity 34
Decreased size of eyeball 94
Decreased size of teeth 62
Decreased subcutaneous adipose tissue 12
Decreased tendon reflex 121
Decreased to absent deep tendon reflexes 42
Defective DNA repair after ultraviolet radiation damage 7
Degenerative brain disorder 98
Delayed eruption of primary teeth 10
Delayed myelination 21
Dental caries 157
Dry hair 7
Dry skin 74
Dull intelligence 634
Dwarfism 36
EKG abnormalities 78
Ectropion 36
Electrocardiogram abnormal 81
Electrocardiogram change 78
Enophthalmos 74
Entropion 22
Epilepsy 775
Everted lower lip vermilion 54
Failure to gain weight 359
Feeding difficulties in infancy 174
Fetal Growth Retardation 186
Flexion contracture - elbow 30
Flexion contracture of proximal interphalangeal joint 74
Foot crease 1
Freckles 33
GONADAL HYPOPLASIA 2
Gliosis 56
Global developmental delay, severe 47
Hair shaft abnormalities 30
Hepatomegaly 280
Hirsutism 46
Hydrocephalus, Normal Pressure 2
Hyperkyphosis 109
Hyperopia 68
Hypertensive disease 278
Hypertrophy of lower jaw 75
Hypogonadism 169
Hypoplasia of iris 10
Hypoplastic iliac wing 19
Hypoplastic mandible condyle 273
Hypoplastic pelvis 9
Increase in blood pressure 118
Increased cellular sensitivity to UV light 3
Increased size of mandible 75
Increased thickness of cranium 16
Infant, Small for Gestational Age 174
Infantile onset 236
Infratentorial atrophy 101
Intellectual disability 998
Intrauterine retardation 174
Joint stiffness 80
Keratitis 60
Kidney Failure 108
Kyphoscoliosis deformity of spine 59
Kyphosis deformity of spine 112
Lacrimation decreased 3
Lens Opacities 227
Long philtrum 137
Longitudinal groove on soles 1
Loss of facial adipose tissue 4
Low Birth Weights 69
Low Vision 167
Low intelligence 634
Malocclusion 57
Mandibular hyperplasia 75
Mandibular hypoplasia 273
Mental Retardation 634
Mental deficiency 634
Mental deterioration 32
Microcornea 46
Micrognathism 273
Muscle Hypertonia 88
Muscle Spasticity 192
Muscle Weakness 168
Muscle hypotonia 562
Nasal bridge wide 232
Nystagmus 309
Olivopontocerebellar Atrophies 5
Optic Atrophy 239
Osteoporosis 348
Patchy demyelination of subcortical white matter 2
Pediatric failure to thrive 359
Pena Shokeir syndrome Type 2 4
Peripheral Neuropathy 131
Peripheral dysmyelination 3
Photodysphoria 117
Photophobia 117
Photosensitivity of skin 51
Pigmentation anomalies of sun-exposed skin 1
Poikiloderma 14
Polyneuropathy 63
Poor school performance 634
Postnatal growth retardation 56
Premature aging syndrome 2
Profound Mental Retardation 31
Profound intellectual disabilities 31
Prominent metopic ridge 15
Prominent nasal bridge 56
Proteinuria 143
Protruding lower lip 54
Reflex, Deep Tendon, Absent 90
Renal Insufficiency 87
Renal failure in adulthood 75
Retinitis Pigmentosa 223
Rotting teeth 69
Sclerotic ivory phalangeal epiphyses 3
Second metatarsal posteriorly placed 1
Seizures 584
Sensorineural Hearing Loss (disorder) 281
Severe failure to thrive 4
Severe psychomotor retardation 47
Short neck 139
Short stature 514
Simple ear 41
Slender nose 3
Sloping forehead 46
Small for gestational age (disorder) 69
Small head 366
Sparse hair 59
Spider Veins 17
Splenomegaly 186
Square pelvis 2
Strabismus 265
Subcortical white matter calcifications 1
Sunken eyes 62
Supratentorial atrophy 93
Telangiectasis 35
Thickened calvaria 16
Thin lips 49
Thin, sparse hair 59
Tooth hypoplasia 7
Tremor 112
UV-SENSITIVE SYNDROME 1 2
Vertical Talus 25
Visual Impairment 167
Wide spaced nipples 46
Wizened face 9
Xerosis 74
hair abnormalities (non-specific) 30
hearing impairment 194
mandibular excess (physical finding) 75
Disease Target Count P-value
tuberculosis 1963 3.3e-06
malignant mesothelioma 3135 3.8e-06
osteosarcoma 7766 4.0e-05
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 1.2
Kidney cancer 2548 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