Property Summary

NCBI Gene PubMed Count 45
PubMed Score 5.43
PubTator Score 90.12

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal behavior 52
Abnormal helices 11
Abnormal skeletal development 60
Abnormal urinary amino-acid findings 38
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
Adrenal hypoplasia 12
Adrenoleukodystrophy, Neonatal 13
Albuminuria 21
Amelogenesis imperfecta 29
Aminoaciduria 38
Anteverted nostril 191
Autosomal recessive predisposition 1442
Bell-shaped thorax 10
Big calvaria 147
Bilateral single transverse palmar creases 34
Blepharoptosis 231
Brachyturricephaly 4
Breech Presentation 10
Broad flat nasal bridge 236
Brushfield spots 4
Byzanthine arch palate 194
Cataract 297
Cerebellar Ataxia 304
Chorioretinal abnormality 21
Clouding of corneal stroma 50
Cloudy cornea 33
Cognitive delay 608
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital clubfoot 109
Congenital hypoplasia of lung 48
Corneal Opacity 53
Corneal stromal opacities 33
Cryptorchidism 296
Cystic kidney 30
Death in early childhood 82
Death in infancy 82
Decreased tendon reflex 122
Decreased to absent deep tendon reflexes 42
Defective enamel matrix 35
Delayed bone age 136
Delayed speech and language development 112
Dental Enamel Hypoplasia 43
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Developmental regression 95
Difficulties with night vision 87
Dysplasia of tooth enamel 35
Ectopic Tissue 14
Electroencephalogram abnormal 101
Electroretinogram abnormal 95
Elevated levels of phytanic acid 15
Elevated long chain fatty acids 4
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
Glaucoma 239
Global developmental delay 608
Global developmental delay, severe 47
Hepatomegaly 285
High forehead 102
High, narrow palate 32
Hydronephrosis 89
Hyperoxaluria 8
Hyperreflexia 209
Hypertrophy of clitoris 40
Hypoplasia or absence of the corpus callosum 23
Hypoplastic mandible condyle 275
Hypoplastic olfactory lobes 1
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
Intrahepatic biliary dysgenesis 3
Language Delay 112
Lens Opacities 231
Leukodystrophy 55
Leukonychia 6
Liver Failure 73
Liver diseases 87
Long narrow head 75
Loss of developmental milestones 95
Low Vision 174
Low-set, posteriorly rotated ears 110
Macroglossia 65
Malabsorption 82
Malar flattening 129
Malformations of Cortical Development, Group II 31
Malformed pinnae 37
Mandibular hypoplasia 275
Mental and motor retardation 608
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
Neonatal Jaundice 30
Neurodevelopmental regression 95
Night Blindness 101
Nystagmus 317
Optic Atrophy 242
Orbital separation excessive 244
Osteochondrodysplasias 72
PEROXISOME BIOGENESIS DISORDER 2B 5
Pallor of optic disc 39
Patent ductus arteriosus 90
Pediatric failure to thrive 365
Penile hypospadias 106
Polymicrogyria 48
Posterior embryotoxon 28
Posteriorly rotated ear 61
Premature Birth 77
Premature birth of newborn 67
Profound global developmental delay 17
Progressive mental retardation 37
Prolonged neonatal jaundice 17
Protrusion of tongue 11
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
Redundant neck skin 4
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 mental retardation (I.Q. 20-34) 99
Severe psychomotor retardation 47
Short stature 531
Single transverse palmar crease 29
Small adrenal gland 12
Small head 374
Speckled iris 4
Speech Delay 112
Speech impairment 112
Stippled epiphyses 28
Strabismus 270
Subependymal cysts 3
Tall forehead 102
Thin dental enamel 35
Toeing-in 24
Turridolichocephaly 75
Ulnar deviation of hand 9
Underdeveloped brows 38
Underdeveloped supraorbital ridges 38
Upward slant of palpebral fissure 75
Ventricular Septal Defects 119
Vertical Talus 25
Very long chain fatty acid accumulation 13
Visual Impairment 174
Visual field constriction 36
Wide anterior fontanel 44
Widely patent fontanels and sutures 12
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.1
Disease Target Count Z-score Confidence
Peroxisomal disease 22 0.0 4.0
Disease Target Count Z-score Confidence
Mulibrey nanism 13 4.448 2.2

Expression

  Differential Expression (5)

Disease log2 FC p
group 3 medulloblastoma 1.100 5.5e-04
medulloblastoma, large-cell 1.300 1.2e-04
Pick disease -1.300 1.1e-04
primitive neuroectodermal tumor 1.200 1.6e-05
progressive supranuclear palsy -1.200 3.0e-02

Gene RIF (18)

AA Sequence

MWGSDRLAGAGGGGAAVTVAFTNARDCFLHLPRRLVAQLHLLQNQAIEVVWSHQPAFLSWVEGRHFSDQG      1 - 70
ENVAEINRQVGQKLGLSNGGQVFLKPCSHVVSCQQVEVEPLSADDWEILELHAVSLEQHLLDQIRIVFPK     71 - 140
AIFPVWVDQQTYIFIQIVALIPAASYGRLETDTKLLIQPKTRRAKENTFSKADAEYKKLHSYGRDQKGMM    141 - 210
KELQTKQLQSNTVGITESNENESEIPVDSSSVASLWTMIGSIFSFQSEKKQETSWGLTEINAFKNMQSKV    211 - 280
VPLDNIFRVCKSQPPSIYNASATSVFHKHCAIHVFPWDQEYFDVEPSFTVTYGKLVKLLSPKQQQSKTKQ    281 - 350
NVLSPEKEKQMSEPLDQKKIRSDHNEEDEKACVLQVVWNGLEELNNAIKYTKNVEVLHLGKVWIPDDLRK    351 - 420
RLNIEMHAVVRITPVEVTPKIPRSLKLQPRENLPKDISEEDIKTVFYSWLQQSTTTMLPLVISEEEFIKL    421 - 490
ETKDGLKEFSLSIVHSWEKEKDKNIFLLSPNLLQKTTIQVLLDPMVKEENSEEIDFILPFLKLSSLGGVN    491 - 560
SLGVSSLEHITHSLLGRPLSRQLMSLVAGLRNGALLLTGGKGSGKSTLAKAICKEAFDKLDAHVERVDCK    561 - 630
ALRGKRLENIQKTLEVAFSEAVWMQPSVVLLDDLDLIAGLPAVPEHEHSPDAVQSQRLAHALNDMIKEFI    631 - 700
SMGSLVALIATSQSQQSLHPLLVSAQGVHIFQCVQHIQPPNQEQRCEILCNVIKNKLDCDINKFTDLDLQ    701 - 770
HVAKETGGFVARDFTVLVDRAIHSRLSRQSISTREKLVLTTLDFQKALRGFLPASLRSVNLHKPRDLGWD    771 - 840
KIGGLHEVRQILMDTIQLPAKYPELFANLPIRQRTGILLYGPPGTGKTLLAGVIARESRMNFISVKGPEL    841 - 910
LSKYIGASEQAVRDIFIRAQAAKPCILFFDEFESIAPRRGHDNTGVTDRVVNQLLTQLDGVEGLQGVYVL    911 - 980
AATSRPDLIDPALLRPGRLDKCVYCPPPDQVSRLEILNVLSDSLPLADDVDLQHVASVTDSFTGADLKAL    981 - 1050
LYNAQLEALHGMLLSSGLQDGSSSSDSDLSLSSMVFLNHSSGSDDSAGDGECGLDQSLVSLEMSEILPDE   1051 - 1120
SKFNMYRLYFGSSYESELGNGTSSDLSSQCLSAPSSMTQDLPGVPGKDQLFSQPPVLRTASQEGCQELTQ   1121 - 1190
EQRDQLRADISIIKGRYRSQSGEDESMNQPGPIKTRLAISQSHLMTALGHTRPSISEDDWKNFAELYESF   1191 - 1260
QNPKRRKNQSGTMFRPGQKVTLA                                                  1261 - 1283
//

Text Mined References (51)

PMID Year Title