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 51
Abnormal skeletal development 60
Abnormality of metabolism/homeostasis 133
Abnormality of retinal pigmentation 109
Abnormality of the liver 21
Abnormality of the palate 17
Addison Disease 18
Adrenal cortical hypofunction 23
Adrenoleukodystrophy, Neonatal 13
Anteverted nostril 186
Autosomal recessive predisposition 1407
Big calvaria 147
Bilateral single transverse palmar creases 34
Bleeding tendency 35
Blepharoptosis 229
Broad flat nasal bridge 232
Byzanthine arch palate 194
Cataract 290
Cerebellar Ataxia 302
Chorioretinal abnormality 21
Clouding of corneal stroma 49
Cognitive delay 596
Concave bridge of nose 191
Congenital Epicanthus 175
Congenital anomaly of face 54
Corneal Opacity 52
Cryptorchidism 287
Death in early childhood 82
Death in infancy 82
Decreased tendon reflex 121
Decreased to absent deep tendon reflexes 42
Depressed nasal bridge 191
Depressed nasal ridge 48
Depressed nasal root/bridge 191
Developmental regression 94
Difficulties with night vision 85
Distortion of face 44
Dull intelligence 634
Dysmorphic facies 44
Electroencephalogram abnormal 100
Electroretinogram abnormal 94
Elevated levels of phytanic acid 15
Embryotoxon 28
Epilepsy 775
Failure to gain weight 359
Feeding difficulties in infancy 174
Flat back of the head 26
Flat face 51
Flat occiput 26
Funny looking face 44
Global developmental delay 596
Global developmental delay, severe 47
Hepatomegaly 280
High forehead 101
Hydronephrosis 87
Hyperreflexia 208
Hypertrophy of clitoris 38
Hypocholesterolemia 6
Hypoplastic mandible condyle 273
Hypotonia, neonatal, generalized 7
Hypotonia, severe 33
Hypotrophic malar bone 129
Icterus 81
Impaired cognition 95
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infantile Refsum Disease (disorder) 13
Intellectual disability 998
Lens Opacities 227
Liver Failure 72
Liver diseases 85
Long narrow head 75
Loss of developmental milestones 94
Low Vision 167
Low intelligence 634
Low-set, posteriorly rotated ears 109
Malabsorption 81
Malar flattening 129
Malformations of Cortical Development, Group II 30
Malformed pinnae 36
Mandibular hypoplasia 273
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Mental deterioration in childhood 94
Mental impairment 95
Micrognathism 273
Movement Disorders 54
Multicystic Dysplastic Kidney 51
Muscle Spasticity 192
Muscle hypotonia 562
Muscle weakness, progressive 22
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Nasal bridge wide 232
Neurodevelopmental regression 94
Night Blindness 99
Nystagmus 309
Optic Atrophy 239
Osteochondrodysplasias 72
Osteoporosis 348
Pediatric failure to thrive 359
Penile hypospadias 102
Peripheral Neuropathy 131
Polymicrogyria 48
Polyneuropathy 63
Poor school performance 634
Posterior embryotoxon 28
Premature Birth 76
Premature birth of newborn 67
Prenatal onset 137
Profound global developmental delay 17
Psychomotor regression 94
Psychomotor regression beginning in infancy 94
Psychomotor regression in infants 94
Psychomotor regression, progressive 94
Psychomotor retardation, profound 17
Pyloric Stenosis 47
Respiratory Insufficiency 130
Respiratory function loss 119
Retinal pigment epithelial abnormality 109
Retinitis Pigmentosa 223
Seizures 584
Sensorineural Hearing Loss (disorder) 281
Severe psychomotor retardation 47
Short stature 514
Single transverse palmar crease 29
Small head 366
Steatorrhea 32
Stippled epiphyses 28
Strabismus 265
Tall forehead 101
Turridolichocephaly 75
Underdeveloped brows 37
Underdeveloped supraorbital ridges 37
Upward slant of palpebral fissure 74
Very long chain fatty acid accumulation 13
Visual Impairment 167
Visual field constriction 35
Wide anterior fontanel 44
facial deformity 44
Disease Target Count P-value
ovarian cancer 8297 8.6e-06
psoriasis 6514 6.6e-05
Disease Target Count Z-score Confidence
Carcinoma 11192 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 40 4.11 2.1
Atypical autism 25 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