Property Summary

Ligand Count 35
NCBI Gene PubMed Count 77
PubMed Score 186.95
PubTator Score 353.35

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Myoglobinuria 15
Abnormality of nervous system morphology 2
Agenesis of corpus callosum 83
Antenatal intracerebral hemorrhage 1
Apnea 45
Autosomal recessive predisposition 1442
Basal ganglia cysts 2
Bulbous nasal tip 48
Bulbous nose 48
Bulging forehead 66
Byzanthine arch palate 194
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cardiomegaly 116
Cardiomyopathies 110
Cardiomyopathy, Dilated 83
Cataract 297
Comatose 56
Conduction disorder of the heart 79
Creatine phosphokinase serum increased 110
Decreased plasma free carnitine 1
Decreased plasma total carnitine 1
Dilated ventricles (finding) 121
Double ureter 6
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Elevated creatine kinase 110
Elevated hepatic transaminases 81
Elevated total bilirubin 6
Enlarged kidney 14
Epilepsy 792
Fatigue 182
Feeding difficulties in infancy 175
Flexion contracture - elbow 32
Foot Deformities 30
Hepatic calcification 2
Hepatic enzyme increased 81
Hepatomegaly 285
High forehead 102
Hydronephrosis 89
Hyperammonemia 30
Hypoketotic hypoglycemia 11
Hypoplastic toenails 22
Increased serum long-chain fatty acids 1
Infantile onset 238
Intracerebral periventricular calcifications 2
Kidney Failure 111
Lens Opacities 231
Lethargy 77
Lipid accumulation in skeletal muscle 1
Liver Dysfunction 99
Liver Failure 73
Liver enzymes abnormal 81
Liver function test increased 81
Liver function tests abnormal finding 81
Long toes 5
Long-chain dicarboxylic aciduria 1
Low set ears 181
Macrovesicular steatosis 4
Multicystic Dysplastic Kidney 52
Muscle Cramp 55
Muscle Weakness 170
Muscle hypotonia 571
Muscular stiffness 12
Myalgia 54
Myopathy 185
Narrow palate 20
Nausea and vomiting 97
Neonatal Hypotonia 64
Nonketotic hypoglycemia 6
Overfolded helix 24
Polycystic Kidney - body part 18
Polycystic Kidney Diseases 20
Polymicrogyria 48
Posteriorly rotated ear 61
Potato nose 48
Prominent forehead 66
Renal Insufficiency 90
Renal failure in adulthood 76
Respiratory Failure 104
Respiratory Insufficiency 132
Respiratory arrest 1
Respiratory distress 43
Respiratory function loss 121
Rhabdomyolysis 15
Seizures 596
Sloping forehead 46
Small head 374
Subclinical abnormal liver function tests 81
Tall forehead 102
Tapered toe 2
Tapering fingers (finding) 25
Transaminases increased 81
Vomiting 116
Wide spaced nipples 46
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Carnitine palmitoyltransferase II deficiency 14 7.374 3.7

Expression

  Differential Expression (7)

Disease log2 FC p
colon cancer -1.100 4.0e-03
intraductal papillary-mucinous neoplasm ... 1.200 1.4e-02
ovarian cancer 2.000 5.3e-06
pancreatic ductal adenocarcinoma liver m... -1.351 7.5e-03
psoriasis 1.800 1.9e-04
subependymal giant cell astrocytoma 1.843 2.6e-02
ulcerative colitis -1.200 3.9e-05

Gene RIF (53)

AA Sequence

MVPRLLLRAWPRGPAVGPGAPSRPLSAGSGPGQYLQRSIVPTMHYQDSLPRLPIPKLEDTIRRYLSAQKP      1 - 70
LLNDGQFRKTEQFCKSFENGIGKELHEQLVALDKQNKHTSYISGPWFDMYLSARDSVVLNFNPFMAFNPD     71 - 140
PKSEYNDQLTRATNMTVSAIRFLKTLRAGLLEPEVFHLNPAKSDTITFKRLIRFVPSSLSWYGAYLVNAY    141 - 210
PLDMSQYFRLFNSTRLPKPSRDELFTDDKARHLLVLRKGNFYIFDVLDQDGNIVSPSEIQAHLKYILSDS    211 - 280
SPAPEFPLAYLTSENRDIWAELRQKLMSSGNEESLRKVDSAVFCLCLDDFPIKDLVHLSHNMLHGDGTNR    281 - 350
WFDKSFNLIIAKDGSTAVHFEHSWGDGVAVLRFFNEVFKDSTQTPAVTPQSQPATTDSTVTVQKLNFELT    351 - 420
DALKTGITAAKEKFDATMKTLTIDCVQFQRGGKEFLKKQKLSPDAVAQLAFQMAFLRQYGQTVATYESCS    421 - 490
TAAFKHGRTETIRPASVYTKRCSEAFVREPSRHSAGELQQMMVECSKYHGQLTKEAAMGQGFDRHLFALR    491 - 560
HLAAAKGIILPELYLDPAYGQINHNVLSTSTLSSPAVNLGGFAPVVSDGFGVGYAVHDNWIGCNVSSYPG    561 - 630
RNAREFLQCVEKALEDMFDALEGKSIKS                                              631 - 658
//

Text Mined References (83)

PMID Year Title