Property Summary

NCBI Gene PubMed Count 37
PubMed Score 39.44
PubTator Score 51.49

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormal skeletal development 60
Abnormality of epiphysis morphology 39
Abnormality of metabolism/homeostasis 134
Abnormality of retinal pigmentation 111
Alopecia 115
Anosmia 22
Autosomal recessive predisposition 1442
Blepharoptosis 231
Calcific stippling of infantile cartilaginous skeleton 1
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cardiomegaly 116
Cardiomyopathies 110
Cataract 297
Cerebellar Ataxia 304
Cerebral atrophy 178
Cerebrospinal fluid protein increased above normal 14
Cleft Palate 271
Concave bridge of nose 195
Conduction disorder of the heart 79
Congenital Bilateral Cataracts 50
Congenital cataract 50
Congenital pes cavus 88
Congestive heart failure 113
Contracture 96
Contracture of joint 93
Coronal cleft vertebrae 8
Decreased tendon reflex 122
Delayed CNS myelination 6
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Developmental regression 95
Difficulties with night vision 87
Dry skin 75
Dull intelligence 645
Dwarfism 37
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Elevated levels of phytanic acid 15
Epilepsy 792
Flat face 52
Flexion contracture 93
Flexion contractures of joints 93
Frontal bossing 157
Hammer Toe 23
Heart failure 162
Hemiplegia and hemiparesis 38
Hypesthesia 7
Hypoplastic mandible condyle 275
Hypotrophic malar bone 129
Ichthyoses 41
Intellectual disability 1016
Kyphoscoliosis deformity of spine 60
Lens Opacities 231
Loss of developmental milestones 95
Low Vision 174
Low intelligence 645
Malar flattening 129
Mandibular hypoplasia 275
Mental Retardation 645
Mental deficiency 645
Mental deterioration in childhood 95
Micrognathism 275
Miosis disorder 6
Multiple epiphyseal dysplasia 18
Muscle Spasticity 195
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
Poor school performance 645
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Pyramidal sign 29
Refsum Disease, Adult, 2 1
Respiratory Insufficiency 132
Respiratory function loss 121
Retinal Degeneration 106
Retinal Diseases 55
Retinal pigment epithelial abnormality 111
Retinitis Pigmentosa 226
Rhizomelia 25
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe failure to thrive 4
Severe mental retardation (I.Q. 20-34) 99
Short fourth metatarsals 4
Short metacarpal 43
Skeletal muscle atrophy 139
Small head 374
Splayed metaphyses 19
Splenomegaly 190
Stippled epiphyses 28
Upward slant of palpebral fissure 75
Uranostaphyloschisis 167
Visual Impairment 174
Xerosis 75
muscle degeneration 139
Disease Target Count Z-score Confidence
Peroxisomal disease 22 0.0 4.0

Expression

  Differential Expression (8)

Disease log2 FC p
acute myeloid leukemia -1.100 4.6e-03
gastric carcinoma -1.500 1.2e-02
group 4 medulloblastoma -1.100 1.1e-03
interstitial cystitis -1.200 1.2e-02
intraductal papillary-mucinous neoplasm ... -1.400 4.6e-02
lung carcinoma 1.100 1.2e-21
ovarian cancer -1.200 4.6e-04
psoriasis 1.100 4.9e-04

Protein-protein Interaction (13)

Gene RIF (19)

AA Sequence

MSAVCGGAARMLRTPGRHGYAAEFSPYLPGRLACATAQHYGIAGCGTLLILDPDEAGLRLFRSFDWNDGL      1 - 70
FDVTWSENNEHVLITCSGDGSLQLWDTAKAAGPLQVYKEHAQEVYSVDWSQTRGEQLVVSGSWDQTVKLW     71 - 140
DPTVGKSLCTFRGHESIIYSTIWSPHIPGCFASASGDQTLRIWDVKAAGVRIVIPAHQAEILSCDWCKYN    141 - 210
ENLLVTGAVDCSLRGWDLRNVRQPVFELLGHTYAIRRVKFSPFHASVLASCSYDFTVRFWNFSKPDSLLE    211 - 280
TVEHHTEFTCGLDFSLQSPTQVADCSWDETIKIYDPACLTIPA                               281 - 323
//

Text Mined References (35)

PMID Year Title