Property Summary

NCBI Gene PubMed Count 13
PubMed Score 34.90
PubTator Score 17.21

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Congenital disorder of glycosylation type 1D 1 0.0 0.0
Disease Target Count
Abnormality of vision 40
Adducted thumb 22
Arthrogryposis 54
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Axial hypotonia 46
Biopsy shows villous atrophy 16
Broad flat nasal bridge 236
Bulbous nasal tip 48
Bulbous nose 48
Byzanthine arch palate 194
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id 1
Cerebellar degeneration 103
Cerebral atrophy 178
Cleft uvula 27
Clinodactyly of the 5th toe 6
Cognitive delay 608
Coloboma of iris 38
Concave bridge of nose 195
Congenital Epicanthus 177
Congenital clubfoot 109
Contracture of joint of hand 30
Curvature of the little toe 6
Decreased amplitudes on flash visual electroretinogram 13
Degenerative brain disorder 100
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Diarrhea 253
Duodenal villous atrophy 16
Epilepsy 792
Failure to gain weight 365
Food intolerance (disorder) 1
Global developmental delay 608
Hyperreflexia 209
Hypsarrhythmia 25
Infratentorial atrophy 103
Isoelectric focusing of serum transferrin consistent with CDG type I 10
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Long fingers 9
Macrotia 87
Mental and motor retardation 608
Micronychia (disorder) 24
Muscle Hypertonia 88
Muscle hypotonia 571
Nail dysplasia 52
Nasal bridge wide 236
Optic Atrophy 242
Pediatric failure to thrive 365
Potato nose 48
Seizures 596
Severe visual impairment 16
Small head 374
Small intestine biopsy shows villous atrophy 16
Strabismus 270
Supratentorial atrophy 94
Variable degree of villous atrophy 16
Villous atrophy 16
Villous atrophy of intestine 16
Vomiting 116
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count Z-score Confidence
Congenital disorder of glycosylation 54 5.099 2.5
Disease Target Count Z-score Confidence
Microcephaly 166 3.759 1.9
Disease Target Count
ALG3-CDG 1

Expression

  Differential Expression (5)

Disease log2 FC p
inflammatory breast cancer 1.300 2.8e-03
lung adenocarcinoma 1.200 5.0e-12
malignant mesothelioma 1.200 6.0e-06
medulloblastoma, large-cell 1.200 3.6e-04
non-small cell lung cancer 1.398 2.4e-24

Protein-protein Interaction (4)

Gene RIF (2)

AA Sequence

MAAGLRKRGRSGSAAQAEGLCKQWLQRAWQERRLLLREPRYTLLVAACLCLAEVGITFWVIHRVAYTEID      1 - 70
WKAYMAEVEGVINGTYDYTQLQGDTGPLVYPAGFVYIFMGLYYATSRGTDIRMAQNIFAVLYLATLLLVF     71 - 140
LIYHQTCKVPPFVFFFMCCASYRVHSIFVLRLFNDPVAMVLLFLSINLLLAQRWGWGCCFFSLAVSVKMN    141 - 210
VLLFAPGLLFLLLTQFGFRGALPKLGICAGLQVVLGLPFLLENPSGYLSRSFDLGRQFLFHWTVNWRFLP    211 - 280
EALFLHRAFHLALLTAHLTLLLLFALCRWHRTGESILSLLRDPSKRKVPPQPLTPNQIVSTLFTSNFIGI    281 - 350
CFSRSLHYQFYVWYFHTLPYLLWAMPARWLTHLLRLLVLGLIELSWNTYPSTSCSSAALHICHAVILLQL    351 - 420
WLGPQPFPKSTQHSKKAH                                                        421 - 438
//

Text Mined References (20)

PMID Year Title