Property Summary

NCBI Gene PubMed Count 42
PubMed Score 37.09
PubTator Score 34.43

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal behavior 52
Abnormal skeletal development 60
Abnormality of metabolism/homeostasis 134
Abnormality of retinal pigmentation 111
Abnormality of the liver 21
Abnormality of the nasal bridge 1
Abnormality of the palate 17
Addison Disease 18
Adrenal cortical hypofunction 23
Adrenoleukodystrophy, Neonatal 13
Anteverted nostril 191
Autosomal recessive predisposition 1442
Big calvaria 147
Bilateral single transverse palmar creases 34
Blepharoptosis 231
Broad flat nasal bridge 236
Byzanthine arch palate 194
Cataract 297
Central hypotonia 5
Cerebellar Ataxia 304
Chorioretinal abnormality 21
Clouding of corneal stroma 50
Cognitive delay 608
Concave bridge of nose 195
Congenital Epicanthus 177
Corneal Opacity 53
Cryptorchidism 296
Death in early childhood 82
Death in infancy 82
Decreased to absent deep tendon reflexes 42
Delayed closure of the soft spot on the skull 11
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Developmental regression 95
Difficulties with night vision 87
Disorder of eye 27
Electroencephalogram abnormal 101
Elevated levels of phytanic acid 15
Embryotoxon 28
Epilepsy 792
Eye Abnormalities 35
Failure to gain weight 365
Feeding difficulties 127
Feeding difficulties in infancy 175
Flat back of the head 26
Flat face 52
Flat occiput 26
Global developmental delay 608
Global developmental delay, severe 47
Hepatomegaly 285
High forehead 102
Hydronephrosis 89
Hyperreflexia 209
Hypertrophy of clitoris 40
Hypoplastic mandible condyle 275
Hypotonia, severe 33
Icterus 82
Impaired cognition 96
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infantile Refsum Disease (disorder) 13
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Late closure of anterior fontanel 11
Lens Opacities 231
Liver Failure 73
Liver diseases 87
Long narrow head 75
Loss of developmental milestones 95
Low Vision 174
Low-set, posteriorly rotated ears 110
Malabsorption 82
Malformations of Cortical Development, Group II 31
Malformed pinnae 37
Mandibular hypoplasia 275
Mental and motor retardation 608
Mental deterioration in childhood 95
Mental impairment 95
Micrognathism 275
Movement Disorders 55
Multicystic Dysplastic Kidney 52
Muscle Spasticity 195
Muscle hypotonia 571
Muscle weakness, progressive 22
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nasal bridge wide 236
Neurodevelopmental regression 95
Night Blindness 101
Nystagmus 317
Optic Atrophy 242
Osteochondrodysplasias 72
Pediatric failure to thrive 365
Penile hypospadias 106
Polymicrogyria 48
Posterior embryotoxon 28
Premature Birth 77
Premature birth of newborn 67
Profound global developmental delay 17
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Psychomotor retardation, profound 17
Pyloric Stenosis 47
Respiratory Insufficiency 132
Respiratory function loss 121
Retinal pigment epithelial abnormality 111
Retinitis Pigmentosa 226
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe psychomotor retardation 47
Short stature 531
Small head 374
Stippled epiphyses 28
Strabismus 270
Tall forehead 102
Triangular face 58
Turridolichocephaly 75
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Upward slant of palpebral fissure 75
Very long chain fatty acid accumulation 13
Visual Impairment 174
Visual field constriction 36
Wide anterior fontanel 44
Wide bregma sutures 46
Disease Target Count P-value
lung cancer 4740 9.1e-04
Disease Target Count Z-score Confidence
Breast cancer 3578 0.0 3.0
Eye and adnexa disease 18 0.0 0.9
Disease Target Count Z-score Confidence
Peroxisomal disease 22 0.0 4.0

Expression

  Differential Expression (1)

Disease log2 FC p
lung cancer 1.300 9.1e-04

 MGI Phenotype (1)

Gene RIF (16)

AA Sequence

MASSEQAEQPSQPSSTPGSENVLPREPLIATAVKFLQNSRVRQSPLATRRAFLKKKGLTDEEIDMAFQQS      1 - 70
GTAADEPSSLGPATQVVPVQPPHLISQPYSPAGSRWRDYGALAIIMAGIAFGFHQLYKKYLLPLILGGRE     71 - 140
DRKQLERMEAGLSELSGSVAQTVTQLQTTLASVQELLIQQQQKIQELAHELAAAKATTSTNWILESQNIN    141 - 210
ELKSEINSLKGLLLNRRQFPPSPSAPKIPSWQIPVKSPSPSSPAAVNHHSSSDISPVSNESTSSSPGKEG    211 - 280
HSPEGSTVTYHLLGPQEEGEGVVDVKGQVRMEVQGEEEKREDKEDEEDEEDDDVSHVDEEDCLGVQREDR    281 - 350
RGGDGQINEQVEKLRRPEGASNESERD                                               351 - 377
//

Text Mined References (48)

PMID Year Title