Property Summary

NCBI Gene PubMed Count 43
PubMed Score 42.09
PubTator Score 28.53

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Warburg Sjo Fledelius syndrome 4 0.0 0.0
Disease Target Count
Abnormal visual evoked potential 26
Abnormality of retinal pigmentation 111
Abnormally small eyeball 97
Acquired scoliosis 281
Agyria 15
Ankle clonus 6
Anteverted nostril 191
Autosomal recessive predisposition 1442
Axial hypotonia 46
Bilateral fifth finger clinodactyly 110
Blepharophimosis 70
Blindness, Cortical 24
Brachycephaly 88
Broad cranium shape 88
Broad flat nasal bridge 236
Byzanthine arch palate 194
Cataract 297
Cerebral atrophy 178
Clitoral hypoplasia 11
Cognitive delay 608
Congenital Bilateral Cataracts 50
Congenital cataract 50
Congenital hypoplasia of penis 176
Contracture 96
Contracture of joint 93
Corneal diameter decreased 47
Cortical visual impairment 24
Cryptorchidism 296
Curvature of little finger 110
Curvature of spine 282
Decreased size of eyeball 97
Delayed Puberty 97
Dilated ventricles (finding) 121
Downturned corners of mouth 48
Epilepsy 792
Fetal Growth Retardation 189
Flexion contracture 93
Flexion contractures of joints 93
Generalized hirsutism 36
Global developmental delay 608
Hyperkyphosis 111
Hypoplasia of corpus callosum 90
Hypoplasia of scrotum 24
Hypoplasia or absence of the corpus callosum 23
Hypoplastic labia minora 10
Hypoplastic mandible condyle 275
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Joint stiffness 84
Kyphoscoliosis deformity of spine 60
Kyphosis deformity of spine 114
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Lens Opacities 231
Lissencephaly 69
Low anterior hairline 30
Low-set, posteriorly rotated ears 110
Macrotia 87
Mandibular hypoplasia 275
Mental and motor retardation 608
Microcornea 47
Micrognathism 275
Microphthalmos 100
Muscle Spasticity 195
Muscle hypotonia 571
Narrow palate 20
Nasal bridge wide 236
Nystagmus 317
Optic Atrophy 242
Pachygyria 41
Polymicrogyria 48
Postnatal growth retardation 57
Postnatal microcephaly 24
Profound Mental Retardation 31
Profound intellectual disabilities 31
Retinal pigment epithelial abnormality 111
Seizures 596
Severe mental retardation (I.Q. 20-34) 99
Shallow anterior chamber of eye 4
Short nose 132
Short philtrum 53
Short stature 531
Small head 374
Small nose 132
Small testicle 75
Spastic Quadriplegia 42
Wide skull shape 88
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count Z-score Confidence
Large cell medulloblastoma 5 3.708 1.9
Griscelli syndrome 24 3.203 1.6

Expression

  Differential Expression (19)

Disease log2 FC p
acute quadriplegic myopathy 1.027 8.8e-04
adult high grade glioma -1.800 2.2e-05
Astrocytoma, Pilocytic -1.600 1.6e-07
atypical teratoid / rhabdoid tumor -2.200 6.7e-07
ependymoma -1.400 2.4e-02
glioblastoma -1.800 3.6e-11
hereditary spastic paraplegia -1.424 5.1e-03
intraductal papillary-mucinous adenoma (... 1.900 1.6e-03
intraductal papillary-mucinous carcinoma... 1.500 7.5e-04
lung adenocarcinoma 1.100 1.7e-03
medulloblastoma -1.400 8.8e-06
medulloblastoma, large-cell -1.200 5.2e-03
osteosarcoma 1.518 4.4e-04
ovarian cancer -1.300 3.3e-04
Pick disease 1.100 9.3e-06
pituitary cancer -1.200 3.5e-03
primitive neuroectodermal tumor -1.200 6.2e-03
psoriasis -1.100 8.6e-08
Rheumatoid arthritis 1.300 4.4e-02

Gene RIF (20)

AA Sequence

MDEDVLTTLKILIIGESGVGKSSLLLRFTDDTFDPELAATIGVDFKVKTISVDGNKAKLAIWDTAGQERF      1 - 70
RTLTPSYYRGAQGVILVYDVTRRDTFVKLDNWLNELETYCTRNDIVNMLVGNKIDKENREVDRNEGLKFA     71 - 140
RKHSMLFIEASAKTCDGVQCAFEELVEKIIQTPGLWESENQNKGVKLSHREEGQGGGACGGYCSVL        141 - 206
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Text Mined References (45)

PMID Year Title