Property Summary

NCBI Gene PubMed Count 14
PubMed Score 90.61
PubTator Score 6.55

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count
Cerebellar Ataxia 304
Abnormally small eyeball 97
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Blepharoptosis 231
Byzanthine arch palate 194
Cataract 297
Cerebellar degeneration 103
Cerebellar hypoplasia and atrophy 41
Cerebral atrophy 178
Clenched hands 6
Cloudy cornea 33
Cognitive delay 608
Congenital Camptodactyly 40
Congenital Epicanthus 177
Congenital clubfoot 109
Congenital pes cavus 88
Contracture of joint of hand 30
Corneal stromal opacities 33
Decreased projection of midface 105
Decreased size of eyeball 97
Degenerative brain disorder 100
Dermatologic disorders 93
Diffuse mesangial sclerosis (disorder) 7
Dull intelligence 645
Dysarthria 192
Epilepsy 792
Fetal Growth Retardation 189
Flat back of the head 26
Flat occiput 26
Focal glomerulosclerosis 37
Global developmental delay 608
Hiatal Hernia 7
Hyperplasia of nose 23
Hyperreflexia 209
Hypertrophy of nose 23
Hypoalbuminemia 24
Hypopigmentation disorder 25
Hypoplasia of corpus callosum 90
Hypoplasia of iris 10
Hypoplasia of the brainstem 22
Hypoplastic mandible condyle 275
Hypotrophic midface 105
Infant, Small for Gestational Age 176
Infantile onset 238
Infratentorial atrophy 103
Intellectual disability 1016
Intrauterine retardation 176
Kidney Failure 111
Large auricle 87
Large dysplastic ears 87
Large nose 23
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Lens Opacities 231
Low Birth Weights 69
Low intelligence 645
Low set ears 181
Macrostomia 72
Macrotia 87
Mandibular hypoplasia 275
Maternal oligohydramnios 31
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Micronychia (disorder) 24
Microphthalmos 100
Midface retrusion 105
Motor delay 147
Muscle Spasticity 195
Muscle hypotonia 571
Narrow nasal ridge 6
Nephrotic Syndrome 78
No development of motor milestones 147
Nystagmus 317
Oligohydramnios 52
Optic Atrophy 242
Orbital separation excessive 244
Pachygyria 41
Poor school performance 645
Postnatal microcephaly 24
Progressive extrapyramidal movement disorder 2
Proteinuria 144
Renal Insufficiency 90
Renal failure in adulthood 76
Seizures 596
Short stature 531
Skin Abnormalities 37
Slender fingers 5
Sloping forehead 46
Small for gestational age (disorder) 69
Small head 374
Small midface 105
Strabismus 270
Supratentorial atrophy 94
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.6

Expression

Gene RIF (3)

AA Sequence

MGDMKTPDFDDLLAAFDIPDPTSLDAKEAIQTPSEENESPLKPPGICMDESVSLSHSGSAPDVPAVSVIV      1 - 70
KNTSRQESFEAEKDHITPSLLHNGFRGSDLPPDPHNCGKFDSTFMNGDSARSFPGKLEPPKSEPLPTFNQ     71 - 140
FSPISSPEPEDPIKDNGFGIKPKHSDSYFPPPLGCGAVGGPVLEALAKFPVPELHMFDHFCKKEPKPEPL    141 - 210
PLGSQQEHEQSGQNTVEPHKDPDATRFFGEALEFNSHPSNSIGESKGLARELGTCSSVPPRQRLKPAHSK    211 - 280
LSSCVAALVALQAKRVASVTKEDQPGHTKDLSGPTKESSKGSPKMPKSPKSPRSPLEATRKSIKPSDSPR    281 - 350
SICSDSSSKGSPSVAASSPPAIPKVRIKTIKTSSGEIKRTVTRILPDPDDPSKSPVGSPLGSAIAEAPSE    351 - 420
MPGDEVPVEEHFPEAGTNSGSPQGARKGDESMTKASDSSSPSCSSGPRVPKGAAPGSQTGKKQQSTALQA    421 - 490
STLAPANLLPKAVHLANLNLVPHSVAASVTAKSSVQRRSQPQLTQMSVPLVHQVKKAAPLIVEVFNKVLH    491 - 560
SSNPVPLYAPNLSPPADSRIHVPASGYCCLECGDAFALEKSLSQHYGRRSVHIEVLCTLCSKTLLFFNKC    561 - 630
SLLRHARDHKSKGLVMQCSQLLVKPISADQMFVSAPVNSTAPAAPAPSSSPKHGLTSGSASPPPPALPLY    631 - 700
PDPVRLIRYSIKCLECHKQMRDYMVLAAHFQRTTEETEGLTCQVCQMLLPNQCSFCAHQRIHAHKSPYCC    701 - 770
PECGVLCRSAYFQTHVKENCLHYARKVGYRCIHCGVVHLTLALLKSHIQERHCQVFHKCAFCPMAFKTAS    771 - 840
STADHSATQHPTQPHRPSQLIYKCSCEMVFNKKRHIQQHFYQNVSKTQVGVFKCPECPLLFVQKPELMQH    841 - 910
VKSTHGVPRNVDELSSLQSSADTSSSRPGSRVPTEPPATSVAARSSSLPSGRWGRPEAHRRVEARPRLRN    911 - 980
TGWTCQECQEWVPDRESYVSHMKKSHGRTLKRYPCRQCEQSFHTPNSLRKHIRNNHDTVKKFYTCGYCTE    981 - 1050
DSPSFPRPSLLESHISLMHGIRNPDLSQTSKVKPPGGHSPQVNHLKRPVSGVGDAPGTSNGATVSSTKRH   1051 - 1120
KSLFQCAKCSFATDSGLEFQSHIPQHQVDSSTAQCLLCGLCYTSASSLSRHLFIVHKVRDQEEEEEEEAA   1121 - 1190
AAEMAVEVAEPEEGSGEEVPMETRENGLEECAGEPLSADPEARRLLGPAPEDDGGHNDHSQPQASQDQDS   1191 - 1260
HTLSPQV                                                                  1261 - 1267
//

Text Mined References (22)

PMID Year Title