Property Summary

NCBI Gene PubMed Count 36
PubMed Score 221.50
PubTator Score 133.67

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Refsum disease 20 6.891 3.4
Disease Target Count
Retinitis Pigmentosa 226
Abnormal skeletal development 60
Abnormality of epiphysis morphology 39
Abnormality of metabolism/homeostasis 134
Abnormality of retinal pigmentation 111
Anosmia 22
Autosomal recessive predisposition 1442
Blepharoptosis 231
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cardiomegaly 116
Cardiomyopathies 110
Cataract 297
Cerebellar Ataxia 304
Cerebrospinal fluid protein increased above normal 14
Conduction disorder of the heart 79
Congenital pes cavus 88
Congestive heart failure 113
Decreased tendon reflex 122
Developmental regression 95
Difficulties with night vision 87
Dry skin 75
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Elevated levels of phytanic acid 15
Hammer Toe 23
Heart failure 162
Hemiplegia and hemiparesis 38
Hypesthesia 7
Ichthyoses 41
Lens Opacities 231
Loss of developmental milestones 95
Low Vision 174
Mental deterioration in childhood 95
Miosis disorder 6
Multiple epiphyseal dysplasia 18
Muscle hypotonia 571
Muscle weakness of limb 21
Nail dysplasia 52
Neurodevelopmental regression 95
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Neuropathy 261
Night Blindness 101
Nystagmus 317
Osteochondrodysplasias 72
Peripheral Neuropathy 134
Peripheral sensorimotor neuropathy 16
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Pyramidal sign 29
Retinal Degeneration 106
Retinal Diseases 55
Retinal pigment epithelial abnormality 111
Sensorineural Hearing Loss (disorder) 284
Severe mental retardation (I.Q. 20-34) 99
Short fourth metatarsals 4
Short metacarpal 43
Skeletal muscle atrophy 139
Splenomegaly 190
Visual Impairment 174
Xerosis 75
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count Z-score Confidence
Peroxisomal disease 22 0.0 4.0
Disease Target Count
Phytanic acid storage disease 2

Expression

  Differential Expression (9)

Disease log2 FC p
astrocytic glioma -1.500 4.7e-02
ductal carcinoma in situ -1.600 4.2e-03
malignant mesothelioma -3.700 6.3e-08
medulloblastoma, large-cell -2.900 4.9e-04
oligodendroglioma -2.200 4.6e-02
ovarian cancer -1.300 4.1e-03
psoriasis -1.700 1.4e-08
spina bifida -1.754 4.5e-02
ulcerative colitis -1.700 2.1e-06

 GWAS Trait (1)

Protein-protein Interaction (1)

Gene RIF (9)

AA Sequence

MEQLRAAARLQIVLGHLGRPSAGAVVAHPTSGTISSASFHPQQFQYTLDNNVLTLEQRKFYEENGFLVIK      1 - 70
NLVPDADIQRFRNEFEKICRKEVKPLGLTVMRDVTISKSEYAPSEKMITKVQDFQEDKELFRYCTLPEIL     71 - 140
KYVECFTGPNIMAMHTMLINKPPDSGKKTSRHPLHQDLHYFPFRPSDLIVCAWTAMEHISRNNGCLVVLP    141 - 210
GTHKGSLKPHDYPKWEGGVNKMFHGIQDYEENKARVHLVMEKGDTVFFHPLLIHGSGQNKTQGFRKAISC    211 - 280
HFASADCHYIDVKGTSQENIEKEVVGIAHKFFGAENSVNLKDIWMFRARLVKGERTNL                281 - 338
//

Text Mined References (38)

PMID Year Title