Property Summary

NCBI Gene PubMed Count 23
PubMed Score 21.38
PubTator Score 29.32

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 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
Bleeding tendency 37
Blepharoptosis 231
Broad flat nasal bridge 236
Byzanthine arch palate 194
Cataract 297
Cerebellar Ataxia 304
Chorioretinal abnormality 21
Clouding of corneal stroma 50
Cognitive delay 608
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital anomaly of face 56
Corneal Opacity 53
Cryptorchidism 296
Death in early childhood 82
Death in infancy 82
Decreased tendon reflex 122
Decreased to absent deep tendon reflexes 42
Depressed nasal bridge 195
Depressed nasal ridge 51
Depressed nasal root/bridge 195
Developmental regression 95
Difficulties with night vision 87
Distortion of face 46
Dull intelligence 645
Dysmorphic facies 46
Electroencephalogram abnormal 101
Electroretinogram abnormal 95
Elevated levels of phytanic acid 15
Embryotoxon 28
Epilepsy 792
Failure to gain weight 365
Feeding difficulties in infancy 175
Flat back of the head 26
Flat face 52
Flat occiput 26
Funny looking face 46
Global developmental delay 608
Global developmental delay, severe 47
Hepatomegaly 285
High forehead 102
Hydronephrosis 89
Hyperreflexia 209
Hypertrophy of clitoris 40
Hypocholesterolemia 6
Hypoplastic mandible condyle 275
Hypotonia, neonatal, generalized 7
Hypotonia, severe 33
Hypotrophic malar bone 129
Icterus 82
Impaired cognition 96
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infantile Refsum Disease (disorder) 13
Intellectual disability 1016
Lens Opacities 231
Liver Failure 73
Liver diseases 87
Long narrow head 75
Loss of developmental milestones 95
Low Vision 174
Low intelligence 645
Low-set, posteriorly rotated ears 110
Malabsorption 82
Malar flattening 129
Malformations of Cortical Development, Group II 31
Malformed pinnae 37
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
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
Osteoporosis 363
Pediatric failure to thrive 365
Penile hypospadias 106
Peripheral Neuropathy 134
Polymicrogyria 48
Polyneuropathy 64
Poor school performance 645
Posterior embryotoxon 28
Premature Birth 77
Premature birth of newborn 67
Prenatal onset 139
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
Single transverse palmar crease 29
Small head 374
Steatorrhea 34
Stippled epiphyses 28
Strabismus 270
Tall forehead 102
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
facial deformity 46
Disease Target Count P-value
ovarian cancer 8520 8.6e-06
psoriasis 6694 6.6e-05
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Peroxisomal disease 22 0.0 4.0
Disease Target Count Z-score Confidence
Chondrodysplasia punctata 41 4.11 2.1
Atypical autism 26 3.225 1.6

Expression

  Differential Expression (2)

Disease log2 FC p
ovarian cancer -1.400 8.6e-06
psoriasis 1.600 6.6e-05

Gene RIF (4)

AA Sequence

MAEHGAHFTAASVADDQPSIFEVVAQDSLMTAVRPALQHVVKVLAESNPTHYGFLWRWFDEIFTLLDLLL      1 - 70
QQHYLSRTSASFSENFYGLKRIVMGDTHKSQRLASAGLPKQQLWKSIMFLVLLPYLKVKLEKLVSSLREE     71 - 140
DEYSIHPPSSRWKRFYRAFLAAYPFVNMAWEGWFLVQQLRYILGKAQHHSPLLRLAGVQLGRLTVQDIQA    141 - 210
LEHKPAKASMMQQPARSVSEKINSALKKAVGGVALSLSTGLSVGVFFLQFLDWWYSSENQETIKSLTALP    211 - 280
TPPPPVHLDYNSDSPLLPKMKTVCPLCRKTRVNDTVLATSGYVFCYRCVFHYVRSHQACPITGYPTEVQH    281 - 350
LIKLYSPEN                                                                 351 - 359
//

Text Mined References (22)

PMID Year Title