Property Summary

NCBI Gene PubMed Count 25
PubMed Score 24.63
PubTator Score 32.59

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
3-methylglutaconic aciduria 29
Abnormality of aortic valve 9
Abnormality of pulmonary valve 23
Acidosis, Lactic 97
Autosomal recessive predisposition 1442
Broad flat nasal bridge 236
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cerebellar Ataxia 304
Cerebral atrophy 178
Cognitive delay 608
Conduction disorder of the heart 79
Congestive heart failure 113
Cryptorchidism 296
Death in early childhood 82
Death in infancy 82
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Encephalitis 64
Encephalocardiomyopathy, Mitochondrial, Neonatal, Due To Atp Synthase Deficiency 1
Encephalopathies 43
Failure to gain weight 365
Fetal Growth Retardation 189
Flat back of the head 26
Flat face 52
Flat occiput 26
Flexion contracture of proximal interphalangeal joint 75
Global developmental delay 608
Heart failure 162
Hepatomegaly 285
Hernia, Inguinal 89
Hyper-beta-alaninemia 9
Hyperammonemia 30
Hypertrophic Cardiomyopathy 117
Hypoplasia or absence of the corpus callosum 23
Increased blood alanine 9
Increased serum alanine 9
Increased serum lactate 60
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Lactic acidemia 95
Leukoencephalopathies 29
Long philtrum 137
Low Birth Weights 69
Low set ears 181
Macrostomia 72
Maternal oligohydramnios 31
Mental and motor retardation 608
Microretrognathia 13
Moderate mental retardation (I.Q. 35-49) 28
Muscle hypotonia 571
Nasal bridge wide 236
Oligohydramnios 52
Pediatric failure to thrive 365
Penile hypospadias 106
Premature Birth 77
Premature birth of newborn 67
Prenatal onset 139
Psychomotor retardation, moderate 6
Respiratory Failure 104
Respiratory Insufficiency 132
Respiratory function loss 121
Retrognathia 54
Short philtrum 53
Small for gestational age (disorder) 69
Small head 374
Tremor 113
Umbilical hernia 93

Expression

  Differential Expression (14)

Disease log2 FC p
acute quadriplegic myopathy -1.300 4.4e-03
astrocytic glioma -1.800 5.2e-03
Breast cancer 1.100 1.1e-09
ependymoma -1.600 1.6e-02
hereditary spastic paraplegia -1.661 8.4e-03
invasive ductal carcinoma 1.100 1.2e-02
medulloblastoma -1.100 1.3e-04
Multiple myeloma 1.628 3.8e-03
non primary Sjogren syndrome sicca 1.200 2.2e-02
oligodendroglioma -1.400 2.1e-02
osteosarcoma 1.122 3.3e-04
ovarian cancer -1.300 2.2e-04
pancreatic ductal adenocarcinoma liver m... -1.792 2.1e-02
Pick disease -1.300 1.1e-04

Gene RIF (20)

AA Sequence

MLFLALGSPWAVELPLCGRRTALCAAAALRGPRASVSRASSSSGPSGPVAGWSTGPSGAARLLRRPGRAQ      1 - 70
IPVYWEGYVRFLNTPSDKSEDGRLIYTGNMARAVFGVKCFSYSTSLIGLTFLPYIFTQNNAISESVPLPI     71 - 140
QIIFYGIMGSFTVITPVLLHFITKGYVIRLYHEATTDTYKAITYNAMLAETSTVFHQNDVKIPDAKHVFT    141 - 210
TFYAKTKSLLVNPVLFPNREDYIHLMGYDKEEFILYMEETSEEKRHKDDK                        211 - 260
//

Text Mined References (28)

PMID Year Title