Property Summary

NCBI Gene PubMed Count 43
PubMed Score 76.50
PubTator Score 58.18

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Methylmalonic acidemia with homocystinuria 1 0.0 0.0
Disease Target Count
Methylmalonic acidemia 37
Homocystinuria 21
Anemia, Megaloblastic 16
Anorexia 43
Autosomal recessive predisposition 1442
Bone marrow megaloblastic (finding) 3
Cerebral atrophy 178
Cognitive delay 608
Confusion 21
Cystathioninemia 1
Cystathioninuria 2
Decreased activity of methylmalonyl-CoA mutase (MUT, 609058) 2
Decreased adenosylcobalamin (AdoCbl) 3
Decreased methionine synthase activity 4
Decreased methylcobalamin 4
Decreased platelet count 111
Dementia 175
Dull intelligence 645
Embolism and Thrombosis 6
Epilepsy 792
Extrapyramidal Disorders 29
Extrapyramidal sign 29
Failure to gain weight 365
Fatigue 182
Feeding difficulties in infancy 175
Global developmental delay 608
Hematuria 36
Hemolytic-Uremic Syndrome 30
High forehead 102
Hydrocephalus 152
Hyperhomocystinemia 6
Hypomethioninemia 4
Infantile onset 238
Intellectual disability 1016
Kidney Diseases 114
Kidney Failure 111
Kidney damage 25
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Lethargy 77
Long face 71
Low Vision 174
Low intelligence 645
Low set ears 181
Macrotia 87
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Metabolic acidosis 90
Methylmalonic aciduria 9
Muscle hypotonia 571
Neutrophil count decreased 47
Nystagmus 317
Pallor 40
Pediatric failure to thrive 365
Poor school performance 645
Proteinuria 144
Reduced visual acuity 63
Renal Insufficiency 90
Renal failure in adulthood 76
Retinal Diseases 55
Retinitis Pigmentosa 226
Seizures 596
Small head 374
Smooth philtrum 43
Tall forehead 102
Thrombocytopenia 197
Thromboembolism 15
Tremor 113
Visual Impairment 174
Disease Target Count P-value
ovarian cancer 8520 3.3e-05
pancreatic ductal adenocarcinoma liver metastasis 1962 1.8e-03
lung cancer 4740 6.4e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7

Expression

  Differential Expression (3)

Disease log2 FC p
lung cancer 1.300 6.4e-03
ovarian cancer 1.100 3.3e-05
pancreatic ductal adenocarcinoma liver m... -1.079 1.8e-03

Gene RIF (37)

AA Sequence

MEPKVAELKQKIEDTLCPFGFEVYPFQVAWYNELLPPAFHLPLPGPTLAFLVLSTPAMFDRALKPFLQSC      1 - 70
HLRMLTDPVDQCVAYHLGRVRESLPELQIEIIADYEVHPNRRPKILAQTAAHVAGAAYYYQRQDVEADPW     71 - 140
GNQRISGVCIHPRFGGWFAIRGVVLLPGIEVPDLPPRKPHDCVPTRADRIALLEGFNFHWRDWTYRDAVT    141 - 210
PQERYSEEQKAYFSTPPAQRLALLGLAQPSEKPSSPSPDLPFTTPAPKKPGNPSRARSWLSPRVSPPASP    211 - 280
GP                                                                        281 - 282
//

Text Mined References (52)

PMID Year Title