Property Summary

NCBI Gene PubMed Count 37
PubMed Score 80.74
PubTator Score 14.67

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Congenital Cataracts, Facial Dysmorphism, And Neuropathy 1 0.0 0.0
Disease Target Count
Abnormality of peripheral nerve conduction 4
Abnormally small eyeball 94
Action Tremor 22
Autosomal recessive predisposition 1407
Babinski Reflex 98
Cataract 290
Cerebellar Ataxia 302
Cerebellar Dysmetria 55
Cerebral atrophy 175
Cervical vertebral abnormalities 6
Chorea 29
Choreatic disease 51
Claw hand 25
Cognitive delay 596
Congenital Bilateral Cataracts 49
Congenital anomaly of face 54
Congenital cataract 49
Congenital clubfoot 108
Congenital pes cavus 86
Corneal diameter decreased 46
Decreased motor NCV 22
Decreased size of eyeball 94
Degenerative brain disorder 98
Dental abnormalities 57
Distal motor neuropathy 3
Distortion of face 44
Dull intelligence 634
Dysmorphic facies 44
Fetal Growth Retardation 186
Flexion contracture of proximal interphalangeal joint 74
Funny looking face 44
Genu recurvatum 12
Global developmental delay 596
Hyperplasia of malar bones 4
Hypoglycemia 146
Hypogonadism, Isolated Hypogonadotropic 64
Hypogonadotropic hypogonadism 82
Hypoplastic mandible condyle 273
Impaired cognition 95
Infant, Small for Gestational Age 174
Infantile onset 236
Intellectual disability 998
Intrauterine retardation 174
Kyphoscoliosis deformity of spine 59
Length dependent motor neuropathy 3
Lens Opacities 227
Long eyelashes 36
Low intelligence 634
Low serum estradiol levels 20
Mandibular hypoplasia 273
Mental Retardation 634
Mental and motor retardation 596
Mental deficiency 634
Mental impairment 95
Microcornea 46
Micrognathism 273
Microphthalmos 95
Mild Mental Retardation 68
Motor axonal neuropathy 3
Motor delay 144
No development of motor milestones 144
Nystagmus 309
Osteoporosis 348
Paresthesia 31
Peripheral axonal degeneration 4
Peripheral demyelination 16
Peripheral hypomyelination 7
Peripheral motor neuropathy 4
Polyneuropathy, Motor 4
Poor school performance 634
Primary hypogonadism 35
Prominent midface 4
Rhabdomyolysis, acute 2
Short stature 514
Strabismus 265
Supratentorial atrophy 93
Terminal tremor 20
Tooth Abnormalities 66
facial deformity 44
Disease Target Count P-value
malignant mesothelioma 3135 1.4e-06
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.7

Expression

  Differential Expression (1)

Disease log2 FC p
malignant mesothelioma 1.100 1.4e-06

 GWAS Trait (1)

Gene RIF (24)

AA Sequence

MEVPAAGRVPAEGAPTAAVAEVRCPGPAPLRLLEWRVAAGAAVRIGSVLAVFEAAASAQSSGASQSRVAS      1 - 70
GGCVRPARPERRLRSERAGVVRELCAQPGQVVAPGAVLVRLEGCSHPVVMKGLCAECGQDLTQLQSKNGK     71 - 140
QQVPLSTATVSMVHSVPELMVSSEQAEQLGREDQQRLHRNRKLVLMVDLDQTLIHTTEQHCQQMSNKGIF    141 - 210
HFQLGRGEPMLHTRLRPHCKDFLEKIAKLYELHVFTFGSRLYAHTIAGFLDPEKKLFSHRILSRDECIDP    211 - 280
FSKTGNLRNLFPCGDSMVCIIDDREDVWKFAPNLITVKKYVYFQGTGDMNAPPGSRESQTRKKVNHSRGT    281 - 350
EVSEPSPPVRDPEGVTQAPGVEPSNGLEKPARELNGSEAATPRDSPRPGKPDERDIWPPAQAPTSSQELA    351 - 420
GAPEPQGSCAQGGRVAPGQRPAQGATGTDLDFDLSSDSESSSESEGTKSSSSASDGESEGKRGRQKPKAA    421 - 490
PEGAGALAQGSSLEPGRPAAPSLPGEAEPGAHAPDKEPELGGQEEGERDGLCGLGNGCADRKEAETESQN    491 - 560
SELSGVTAGESLDQSMEEEEEEDTDEDDHLIYLEEILVRVHTDYYAKYDRYLNKEIEEAPDIRKIVPELK    561 - 630
SKVLADVAIIFSGLHPTNFPIEKTREHYHATALGAKILTRLVLSPDAPDRATHLIAARAGTEKVLQAQEC    631 - 700
GHLHVVNPDWLWSCLERWDKVEEQLFPLRDDHTKAQRENSPAAFPDREGVPPTALFHPMPVLPKAQPGPE    701 - 770
VRIYDSNTGKLIRTGARGPPAPSSSLPIRQEPSSFRAVPPPQPQMFGEELPDAQDGEQPGPSRRKRQPSM    771 - 840
SETMPLYTLCKEDLESMDKEVDDILGEGSDDSDSEKRRPEEQEEEPQPRKPGTRRERTLGAPASSERSAA    841 - 910
GGRGPRGHKRKLNEEDAASESSRESSNEDEGSSSEADEMAKALEAELNDLM                       911 - 961
//

Text Mined References (45)

PMID Year Title