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 97
Action Tremor 22
Autosomal recessive predisposition 1442
Babinski Reflex 100
Cataract 297
Cerebellar Ataxia 304
Cerebellar Dysmetria 56
Cerebral atrophy 178
Cervical vertebral abnormalities 6
Chorea 29
Choreatic disease 52
Claw hand 26
Cognitive delay 608
Congenital Bilateral Cataracts 50
Congenital anomaly of face 56
Congenital cataract 50
Congenital clubfoot 109
Congenital pes cavus 88
Corneal diameter decreased 47
Decreased motor NCV 22
Decreased size of eyeball 97
Degenerative brain disorder 100
Dental abnormalities 60
Distal motor neuropathy 3
Distortion of face 46
Dull intelligence 645
Dysmorphic facies 46
Fetal Growth Retardation 189
Flexion contracture of proximal interphalangeal joint 75
Funny looking face 46
Genu recurvatum 12
Global developmental delay 608
Hyperplasia of malar bones 4
Hypoglycemia 152
Hypogonadism, Isolated Hypogonadotropic 71
Hypogonadotropic hypogonadism 89
Hypoplastic mandible condyle 275
Impaired cognition 96
Infant, Small for Gestational Age 176
Infantile onset 238
Intellectual disability 1016
Intrauterine retardation 176
Kyphoscoliosis deformity of spine 60
Length dependent motor neuropathy 3
Lens Opacities 231
Long eyelashes 37
Low intelligence 645
Low serum estradiol levels 22
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mental impairment 95
Microcornea 47
Micrognathism 275
Microphthalmos 100
Mild Mental Retardation 70
Motor axonal neuropathy 3
Motor delay 147
No development of motor milestones 147
Nystagmus 317
Osteoporosis 363
Paresthesia 32
Peripheral axonal degeneration 4
Peripheral demyelination 16
Peripheral hypomyelination 7
Peripheral motor neuropathy 4
Polyneuropathy, Motor 4
Poor school performance 645
Primary hypogonadism 37
Prominent midface 4
Rhabdomyolysis, acute 2
Short stature 531
Strabismus 270
Supratentorial atrophy 94
Terminal tremor 20
Tooth Abnormalities 69
facial deformity 46
Disease Target Count P-value
malignant mesothelioma 3232 1.4e-06
Disease Target Count Z-score Confidence
Carcinoma 11493 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