Property Summary

NCBI Gene PubMed Count 42
PubMed Score 57.33
PubTator Score 39.23

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal behavior 52
Abnormal helices 11
Abnormal skeletal development 60
Abnormality of metabolism/homeostasis 134
Abnormality of retinal pigmentation 111
Abnormality of the liver 21
Abnormality of the palate 17
Absent reflex 92
Absent tendon reflex 92
Acquired cubitus valgus 18
Addison Disease 18
Adrenal cortical hypofunction 23
Adrenoleukodystrophy, Neonatal 13
Anteverted nostril 191
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Big calvaria 147
Bilateral single transverse palmar creases 34
Blepharoptosis 231
Broad flat nasal bridge 236
Brushfield spots 4
Byzanthine arch palate 194
Cataract 297
Cerebellar Ataxia 304
Cerebellar Dysmetria 56
Cerebellar degeneration 103
Chorioretinal abnormality 21
Cleft Palate 271
Clouding of corneal stroma 50
Cloudy cornea 33
Cognitive delay 608
Concave bridge of nose 195
Congenital Camptodactyly 40
Congenital Epicanthus 177
Congenital Heart Defects 58
Congenital clubfoot 109
Congenital heart disease 93
Corneal Opacity 53
Corneal stromal opacities 33
Cryptorchidism 296
Cystic kidney 30
Death in early childhood 82
Death in infancy 82
Decreased liver function 24
Decreased tendon reflex 122
Decreased to absent deep tendon reflexes 42
Defective or absent horizontal voluntary eye movements 25
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Developmental regression 95
Difficulties with night vision 87
Difficulty running 7
Dull intelligence 645
Dysarthria 192
Edema of eyelid 10
Electroencephalogram abnormal 101
Elevated levels of phytanic acid 15
Embryotoxon 28
Epilepsy 792
Failure to gain weight 365
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Flat back of the head 26
Flat face 52
Flat occiput 26
Gait, Unsteady 29
Global developmental delay 608
Global developmental delay, severe 47
Hepatomegaly 285
Hepatosplenomegaly 22
High forehead 102
Highly variable severity 157
Hydronephrosis 89
Hyperreflexia 209
Hypertrophy of clitoris 40
Hypoplastic mandible condyle 275
Hypotonia, neonatal, generalized 7
Hypotonia, severe 33
Icterus 82
Impaired cognition 96
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infant, Small for Gestational Age 176
Infantile Refsum Disease (disorder) 13
Infratentorial atrophy 103
Intellectual disability 1016
Intrahepatic biliary dysgenesis 3
Intrauterine retardation 176
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Lens Opacities 231
Liver Dysfunction 99
Liver Failure 73
Liver diseases 87
Liver dysfunction, mild 24
Long narrow head 75
Loss of developmental milestones 95
Low Vision 174
Low intelligence 645
Low set ears 181
Low-set, posteriorly rotated ears 110
Malabsorption 82
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
Metatarsus Varus 24
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
Neonatal Hypotonia 64
Neurodevelopmental regression 95
Night Blindness 101
Nystagmus 317
Oculomotor apraxia 25
Optic Atrophy 242
Optic nerve dysplasia 6
Orbital separation excessive 244
Osteochondrodysplasias 72
Pachygyria 41
Pediatric failure to thrive 365
Penile hypospadias 106
Polymicrogyria 48
Poor school performance 645
Poor suck 17
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
Reflex, Deep Tendon, Absent 92
Renal cortical microcysts 4
Renal cyst 30
Respiratory Insufficiency 132
Respiratory function loss 121
Retinal pigment epithelial abnormality 111
Retinitis Pigmentosa 226
Round face 45
Round, full face 45
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Severe psychomotor retardation 47
Short stature 531
Single transverse palmar crease 29
Slow progression 89
Slowed saccades 12
Small head 374
Speckled iris 4
Splenomegaly 190
Stippled chondral calcification 2
Stippled epiphyses 28
Strabismus 270
Tall forehead 102
Toeing-in 24
Tremor 113
Turridolichocephaly 75
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Upward slant of palpebral fissure 75
Uranostaphyloschisis 167
Variable expressivity 157
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
ovarian cancer 8520 3.2e-04
psoriasis 6694 7.5e-04
hereditary spastic paraplegia 318 2.2e-03
Multiple myeloma 1332 9.1e-03
lung cancer 4740 1.6e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Peroxisomal disease 22 0.0 4.0

Expression

  Differential Expression (5)

Disease log2 FC p
hereditary spastic paraplegia -1.192 2.2e-03
lung cancer 1.400 1.6e-02
Multiple myeloma 1.237 9.1e-03
ovarian cancer -1.700 3.2e-04
psoriasis 1.200 7.5e-04

Gene RIF (7)

AA Sequence

MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIY      1 - 70
SKNATVGQSVLNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVN     71 - 140
FVIGLLKLGGLINFLIFLQRGKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPL    141 - 210
INVQKLKAKLSSWCIPLTGAPNSDNTLATSGKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTC    211 - 280
PKCGTEVHSLQPLKSGIEMSEVNAL                                                 281 - 305
//

Text Mined References (42)

PMID Year Title