Property Summary

NCBI Gene PubMed Count 76
PubMed Score 152.19
PubTator Score 79.77

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormal vision 52
Acquired scoliosis 281
Addison Disease 18
Adrenal cortical hypofunction 23
Atrophy of corpus callosum 4
Autosomal recessive predisposition 1442
Big calvaria 147
Bile duct proliferation 9
Byzanthine arch palate 194
Calcific stippling 2
Cerebellar hypoplasia and atrophy 41
Cholestasis 155
Claw hand 26
Cognitive delay 608
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital anomaly of face 56
Congenital clubfoot 109
Congenital pes cavus 88
Cortical Dysplasia 13
Curvature of spine 282
Cystic kidney 30
Decreased muscle mass 28
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Dilated ventricles (finding) 121
Distortion of face 46
Dysmorphic facies 46
Dysmyelination of the brain 6
Elevated gonadotropins 15
Elevated hepatic transaminases 81
Epilepsy 792
Extinguished electroretinogram 15
Failure to gain weight 365
Feeding difficulties in infancy 175
Fetal ascites 3
Frontal bossing 157
Funny looking face 46
Gait Ataxia 51
Generalized cerebral atrophy/hypoplasia 1
Generalized osteopenia 99
Gliosis 56
Global developmental delay 608
Gonadal Dysgenesis 28
Gonadal Dysgenesis, Mixed 19
Hammer Toe 23
Hepatic enzyme increased 81
Hepatomegaly 285
High forehead 102
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hypoplasia of corpus callosum 90
Hypoplastic mandible condyle 275
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Infantile onset 238
Large bregma sutures 46
Large fontanelle 46
Large, late-closing fontanelle 46
Late fontanel closure 28
Limited extraocular movements 2
Liver Dysfunction 99
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Long narrow head 75
Long philtrum 137
Low Vision 174
Low set ears 181
Mandibular hypoplasia 275
Mental and motor retardation 608
Micrognathism 275
Narrow cranium shape 75
Narrow head shape 75
Narrow skull shape 75
Neonatal Hypotonia 64
Nystagmus 317
Orbital separation excessive 244
Osteopenia 99
Osteoporosis 363
Pectus excavatum 100
Pediatric failure to thrive 365
Phenotypic variability 150
Polyhydramnios 108
Polymicrogyria 48
Primary physiologic amenorrhea 55
Pure gonadal dysgenesis 19
Renal cyst 30
Retrognathia 54
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Short stature 531
Steatohepatitis 44
Strabismus 270
Subclinical abnormal liver function tests 81
Tall forehead 102
Thoracic hypoplasia 14
Transaminases increased 81
Turridolichocephaly 75
Upward slant of palpebral fissure 75
Visual Impairment 174
West Syndrome 28
White matter dysmyelination/demyelination 6
Wide bregma sutures 46
facial deformity 46
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
Perrault syndrome 19 6.298 3.1

Expression

  Differential Expression (7)

Disease log2 FC p
dermatomyositis 1.200 3.1e-04
lung cancer -1.100 6.5e-04
ovarian cancer -2.000 2.2e-08
pancreatic ductal adenocarcinoma liver m... -1.895 1.2e-02
Polycystic ovary syndrome 1.022 3.6e-02
tuberculosis 1.500 1.2e-03
Waldenstrons macroglobulinemia 1.930 7.6e-04

Gene RIF (39)

AA Sequence

MGSPLRFDGRVVLVTGAGAGLGRAYALAFAERGALVVVNDLGGDFKGVGKGSLAADKVVEEIRRRGGKAV      1 - 70
ANYDSVEEGEKVVKTALDAFGRIDVVVNNAGILRDRSFARISDEDWDIIHRVHLRGSFQVTRAAWEHMKK     71 - 140
QKYGRIIMTSSASGIYGNFGQANYSAAKLGLLGLANSLAIEGRKSNIHCNTIAPNAGSRMTQTVMPEDLV    141 - 210
EALKPEYVAPLVLWLCHESCEENGGLFEVGAGWIGKLRWERTLGAIVRQKNHPMTPEAVKANWKKICDFE    211 - 280
NASKPQSIQESTGSIIEVLSKIDSEGGVSANHTSRATSTATSGFAGAIGQKLPPFSYAYTELEAIMYALG    281 - 350
VGASIKDPKDLKFIYEGSSDFSCLPTFGVIIGQKSMMGGGLAEIPGLSINFAKVLHGEQYLELYKPLPRA    351 - 420
GKLKCEAVVADVLDKGSGVVIIMDVYSYSEKELICHNQFSLFLVGSGGFGGKRTSDKVKVAVAIPNRPPD    421 - 490
AVLTDTTSLNQAALYRLSGDWNPLHIDPNFASLAGFDKPILHGLCTFGFSARRVLQQFADNDVSRFKAIK    491 - 560
ARFAKPVYPGQTLQTEMWKEGNRIHFQTKVQETGDIVISNAYVDLAPTSGTSAKTPSEGGKLQSTFVFEE    561 - 630
IGRRLKDIGPEVVKKVNAVFEWHITKGGNIGAKWTIDLKSGSGKVYQGPAKGAADTTIILSDEDFMEVVL    631 - 700
GKLDPQKAFFSGRLKARGNIMLSQKLQMILKDYAKL                                      701 - 736
//

Text Mined References (84)

PMID Year Title