| SLC25A13 |
603471 |
Neoplasms |
|
oncologic |
#12111366 #12512993 #15805705 |
| SLC25A13 |
603471 |
Digestive-system-neoplasms |
|
oncologic |
#12111366 #12512993 #15805705 |
| SLC25A13 |
603471 |
Hepatocellular-carcinoma |
HCC; susceptibility; hepatoma
|
oncologic |
12111366 12512993 15805705 |
| SLC25A13 |
603471 |
Digestive-system-diseases |
|
gastrointestinal |
#11153906 #12111366 #12132524 #12512993 #16278034 |
| SLC25A13 |
605814 |
Digestive-system-diseases |
|
gastrointestinal |
#11281457 #11343052 #11343053 #11793471 #11999983 #12111366 #12424587 #14680984 #15542392 |
| SLC25A13 |
605814 |
Biliary-tract-diseases |
|
gastrointestinal |
#11281457 #11343052 #11793471 #11999983 #12111366 #12424587 #14680984 #15542392 |
| SLC25A13 |
605814 |
Cholestasis |
intrahepatic; bile acids elevated; bile duct proliferation; neonatal intrahepatic cholestasis; biliary atresia
|
gastrointestinal |
11281457 11343052 11793471 11999983 12111366 12424587 14680984 15542392 |
| SLC25A13 |
603471 |
Gastrointestinal-diseases |
malnutrition
|
gastrointestinal |
12512993 |
| SLC25A13 |
603471 |
Esophageal-varices |
|
gastrointestinal |
12512993 |
| SLC25A13 |
603471 |
Liver-diseases |
hepatopathy; liver failure; pericentral fibrosis; periportal fibrosis; glycogen nuclei
|
gastrointestinal |
11153906 12132524 12512993 16278034 |
| SLC25A13 |
605814 |
Liver-diseases |
liver dysfunction; hepatic failure; progressive; liver damage; giant cell transformation
|
gastrointestinal |
11281457 #11343052 #11343053 #11793471 11999983 12424587 14680984 15542392 |
| SLC25A13 |
603471 |
Fatty-liver |
steatosis; fibrosis; steatohepatitis; non alcoholic steatohepatitis; NASH; fatty infiltration; fat droplets
|
gastrointestinal |
11153906 12132524 12512993 16278034 |
| SLC25A13 |
605814 |
Fatty-liver |
diffuse fatty changes; fatty liver; periportal fibrosis; microvesicular fat droplets; macrovesicular fat droplets; inflammatory infiltrations; portal to portal bridging fibrosis
|
gastrointestinal |
11281457 11343052 11343053 11793471 12424587 14680984 15542392 |
| SLC25A13 |
605814 |
Hepatitis |
neonatal hepatitis
|
gastrointestinal |
11343052 11793471 11999983 15542392 |
| SLC25A13 |
603471 |
Liver-cirrhosis |
|
gastrointestinal |
12512993 16278034 |
| SLC25A13 |
603471 |
Liver-enzymes-abnormal |
ASS activity decreased; pancreatic secretory trypsin inhibitor (PSTI) increased
|
gastrointestinal |
11153906 12132524 16278034 |
| SLC25A13 |
605814 |
Liver-enzymes-abnormal |
ALT elevated; AST elevated; GGT elevated
|
gastrointestinal |
11281457 11343052 11343053 11999983 12424587 15542392 |
| SLC25A13 |
603471 |
Hepatomegaly |
liver enlarged
|
gastrointestinal |
12512993 |
| SLC25A13 |
605814 |
Hepatomegaly |
|
gastrointestinal |
11343052 15542392 |
| SLC25A13 |
603471 |
Pancreatic-diseases |
|
gastrointestinal |
#12111366 |
| SLC25A13 |
603471 |
Pancreatitis |
complication
|
gastrointestinal |
12111366 |
| SLC25A13 |
605814 |
Abdominal-pain |
abdominal distension
|
gastrointestinal |
11343053 |
| SLC25A13 |
605814 |
Feeding-difficulties |
|
gastrointestinal |
11999983 12111366 12424587 |
| SLC25A13 |
603471 |
Vomiting |
anorexia and vomiting; nausea
|
gastrointestinal |
12132524 12512993 |
| SLC25A13 |
603471 |
Nervous-system-diseases |
|
neurologic |
#10369257 #11153906 #11432966 #12132524 #12512993 #12602510 #14680984 #15050970 #15805705 #16278034 |
| SLC25A13 |
605814 |
Nervous-system-diseases |
|
neurologic |
#11793471 #12111366 #12424587 #15542392 |
| SLC25A13 |
603471 |
Central-nervous-system-diseases |
|
neurologic |
#10369257 #11153906 #12132524 #12512993 #12602510 #15050970 #15805705 #16278034 |
| SLC25A13 |
605814 |
Central-nervous-system-diseases |
|
neurologic |
#11793471 #12111366 #15542392 |
| SLC25A13 |
603471 |
Brain-diseases |
|
neurologic |
#10369257 #11153906 #12132524 #12512993 #12602510 #15050970 #15805705 #16278034 |
| SLC25A13 |
605814 |
Brain-diseases |
|
neurologic |
#11793471 #12111366 #15542392 |
| SLC25A13 |
603471 |
Brain-edema |
death from brain edema
|
neurologic |
10369257 11153906 12132524 12602510 15050970 15805705 |
| SLC25A13 |
605814 |
Brain-edema |
cerebral edema; progressive
|
neurologic |
11793471 |
| SLC25A13 |
603471 |
Encephalopathy |
hepatocerebral disease; progressive encephalopathy
|
neurologic |
11153906 12512993 15805705 |
| SLC25A13 |
603471 |
Seizures |
epilepsy; tonic clonic seizures; convulsions
|
neurologic |
11153906 12132524 12512993 15050970 15805705 |
| SLC25A13 |
605814 |
Seizures |
afebrile convulsion
|
neurologic |
15542392 |
| SLC25A13 |
605814 |
Cerebral-atrophy |
brain atrophy
|
neurologic |
12111366 |
| SLC25A13 |
603471 |
Cerebral-necrosis |
laminoid necrosis; spongiform changes; alzheimer glia like
|
neurologic |
11153906 |
| SLC25A13 |
603471 |
Electroencephalogram-abnormal |
slow waves; triphasic waves
|
neurologic |
11153906 12132524 16278034 |
| SLC25A13 |
603471 |
Movement-disorders |
|
neurologic |
#11153906 #12602510 #15805705 |
| SLC25A13 |
603471 |
Tremor |
flapping tremor
|
neurologic |
11153906 12602510 15805705 |
| SLC25A13 |
603471 |
Neurologic-manifestations |
|
neurologic |
#10369257 #11153906 #11432966 #12132524 #12512993 #12602510 #14680984 #15050970 #15805705 #16278034 |
| SLC25A13 |
605814 |
Neurologic-manifestations |
|
neurologic |
#12424587 |
| SLC25A13 |
603471 |
Ataxia |
|
neurologic |
12512993 |
| SLC25A13 |
603471 |
Neurobehavioral-manifestations |
|
neurologic |
#10369257 #11153906 #11432966 #12132524 #12512993 #12602510 #14680984 #15050970 #15805705 #16278034 |
| SLC25A13 |
605814 |
Neurobehavioral-manifestations |
|
neurologic |
#12424587 |
| SLC25A13 |
603471 |
Catatonia |
catatonic state
|
neurologic |
15805705 |
| SLC25A13 |
603471 |
Confusion |
nocturnal delirium; disorientation; delirious state
|
neurologic |
11153906 12602510 15050970 15805705 16278034 |
| SLC25A13 |
603471 |
Consciousness-disorders |
coma; disorientation; sudden loss of consciousness; disturbance of consciousness; somnolence; delirium
|
neurologic |
10369257 11153906 11432966 12132524 12512993 12602510 14680984 15050970 15805705 16278034 |
| SLC25A13 |
603471 |
Memory-disorders |
loss of memory
|
neurologic |
11153906 12602510 |
| SLC25A13 |
603471 |
Mental-retardation |
mentally retarded
|
neurologic |
11153906 12512993 |
| SLC25A13 |
603471 |
Perceptual-disorders |
|
neurologic |
#15805705 |
| SLC25A13 |
603471 |
Hallucinations |
auditory hallucinations
|
neurologic |
15805705 |
| SLC25A13 |
605814 |
Developmental-delay |
mild delay
|
neurologic |
12111366 15542392 |
| SLC25A13 |
603471 |
Psychomotor-agitation |
restlessness; hyperactivity
|
neurologic |
11153906 15050970 |
| SLC25A13 |
603471 |
Irritability |
|
neurologic |
11153906 15050970 |
| SLC25A13 |
603471 |
Lethargy |
drowsiness
|
neurologic |
11153906 12512993 12602510 |
| SLC25A13 |
605814 |
Lethargy |
poor activity
|
neurologic |
12424587 |
| SLC25A13 |
603471 |
Neuromuscular-manifestations |
|
neurologic |
#15805705 |
| SLC25A13 |
603471 |
Muscle-rigidity |
severe rigidity of all limbs
|
neurologic |
15805705 |
| SLC25A13 |
603471 |
Reflexes-abnormal |
|
neurologic |
#12512993 #15805705 |
| SLC25A13 |
603471 |
Hyperreflexia |
hyperactive; deep tendon reflexes
|
neurologic |
12512993 15805705 |
| SLC25A13 |
605814 |
Eye-diseases |
|
ophthalmologic |
#12111366 #15542392 |
| SLC25A13 |
605814 |
Lens-diseases |
|
ophthalmologic |
#12111366 #15542392 |
| SLC25A13 |
605814 |
Cataract |
cataracts
|
ophthalmologic |
12111366 15542392 |
| SLC25A13 |
603471 |
Genitourinary-diseases |
|
genitourinary |
#11432966 |
| SLC25A13 |
603471 |
Urologic-diseases |
|
genitourinary |
#11432966 |
| SLC25A13 |
603471 |
Kidney-diseases |
|
genitourinary |
#11432966 |
| SLC25A13 |
603471 |
Renal-insufficiency |
chronic renal insufficiency; renal parenchymal disease
|
genitourinary |
11432966 |
| SLC25A13 |
603471 |
Creatinine-levels-abnormal |
elevated
|
genitourinary |
11432966 |
| SLC25A13 |
603471 |
Hematologic-diseases |
|
hematologic |
#11432966 #16278034 |
| SLC25A13 |
605814 |
Hematologic-diseases |
|
hematologic |
#11281457 #11343052 #11343053 #11793471 #11999983 #12424587 #14680984 #15542392 |
| SLC25A13 |
603471 |
Anemia |
|
hematologic |
11432966 |
| SLC25A13 |
605814 |
Anemia |
hemolytic anemia; normocytic anemia
|
hematologic |
15542392 |
| SLC25A13 |
605814 |
Blood-coagulation-disorders |
coagulation factor deficiency; prothrombin time prolonged; partial thromboplastin time prolonged; subcutaneous hemorrhage; bleeding tendencies; vitamin K dependent coagulation factors decreased
|
hematologic |
11281457 11343052 11343053 12424587 15542392 |
| SLC25A13 |
605814 |
Blood-protein-disorders |
hypoproteinemia; transient hypoproteinemia; serum haptoglobin levels decreased
|
hematologic |
#11343052 11343053 #11793471 #11999983 14680984 15542392 |
| SLC25A13 |
605814 |
Hypoalbuminemia |
hypoproteinemia; albumin levels decreased
|
hematologic |
11343052 11343053 11793471 11999983 15542392 |
| SLC25A13 |
605814 |
Hemoglobin-levels-abnormal |
hemoglobin deficiency
|
hematologic |
15542392 |
| SLC25A13 |
603471 |
Lymphatic-diseases |
|
hematologic |
#16278034 |
| SLC25A13 |
603471 |
Granuloma |
inflammatory changes; granuloma formation
|
hematologic |
16278034 |
| SLC25A13 |
603471 |
Metabolic-diseases |
|
metabolic |
#10369257 #11153906 #11432966 #12132524 #12512993 #12602510 #14680984 #15050970 #15805705 #16278034 |
| SLC25A13 |
605814 |
Metabolic-diseases |
|
metabolic |
#11281457 #11343052 #11343053 #11793471 #11999983 #12111366 #12424587 #14680984 #15542392 |
| SLC25A13 |
603471 |
Acid-base-imbalance |
|
metabolic |
#15805705 |
| SLC25A13 |
605814 |
Acid-base-imbalance |
|
metabolic |
#15542392 |
| SLC25A13 |
603471 |
Acidosis |
lactic acidosis
|
metabolic |
15805705 |
| SLC25A13 |
605814 |
Ketosis |
ketotic hypoglycemia
|
metabolic |
15542392 |
| SLC25A13 |
605814 |
Metabolic-brain-diseases |
|
metabolic |
#11281457 #11343052 #11793471 #11999983 #14680984 #15542392 |
| SLC25A13 |
605814 |
Galactosemias |
galactose elevated; hypergalactosemia
|
metabolic |
11281457 11343052 11793471 11999983 14680984 15542392 |
| SLC25A13 |
605814 |
Glucose-metabolism-disorders |
|
metabolic |
#12111366 #12424587 #14680984 #15542392 |
| SLC25A13 |
605814 |
Hypoglycemia |
ketotic hypoglycemia
|
metabolic |
12111366 12424587 14680984 15542392 |
| SLC25A13 |
603471 |
Hyperammonemia |
ammonia levels elevated
|
metabolic |
11153906 11432966 12132524 12512993 12602510 14680984 15050970 15805705 16278034 |
| SLC25A13 |
605814 |
Hyperammonemia |
ammonia levels elevated
|
metabolic |
11343053 11999983 12424587 15542392 |
| SLC25A13 |
605814 |
Hyperbilirubinemia |
jaundice; yellow colored stools; cholestatic jaundice
|
metabolic |
11281457 11343052 11343053 11793471 12424587 14680984 15542392 |
| SLC25A13 |
603471 |
Hemochromatosis |
hemosiderosis; moderate hemosiderosis
|
metabolic |
16278034 |
| SLC25A13 |
605814 |
Hemochromatosis |
iron depositions; hepatocytes abnormal; Kupffer cells abnormal
|
metabolic |
11343052 |
| SLC25A13 |
603471 |
Aminoacid-levels-abnormal |
elevated threonine; elevated citrulline; elevated methionine; elevated tyrosine; elevated lysine; elevated arginine
|
metabolic |
10369257 11153906 11432966 12132524 12512993 14680984 15805705 16278034 |
| SLC25A13 |
605814 |
Aminoacid-levels-abnormal |
hyperaminoacidemia; elevated threonine; elevated citrulline; elevated methionine; elevated tyrosine; elevated lysine; elevated arginine; tyrosinemia; citrullinemia; hypermethioninemia; hyperphenylalaninemia
|
metabolic |
11281457 11343052 11343053 11793471 11999983 12424587 14680984 15542392 |
| SLC25A13 |
603471 |
Aminoaciduria |
homocitrullinuria
|
metabolic |
12512993 |
| SLC25A13 |
605814 |
Hyperferricemia |
high serum ferritin levels
|
metabolic |
15542392 |
| SLC25A13 |
605814 |
Organic-acids-abnormal |
hydroxyphenyllactic aciduria; hydroxyphenylpyruvic aciduria
|
metabolic |
11281457 12424587 |
| SLC25A13 |
603471 |
Immune-system-diseases |
|
immunologic |
#11432966 #12602510 #14680984 |
| SLC25A13 |
603471 |
Infections |
infection triggered onset; otitis media; chronic infections
|
immunologic |
11432966 12602510 14680984 |
| SLC25A13 |
603471 |
Psychiatric-disorders |
|
psychiatric |
#11153906 #11432966 #12132524 #12602510 #14680984 #15050970 #15805705 |
| SLC25A13 |
605814 |
Psychiatric-disorders |
|
psychiatric |
#11343053 |
| SLC25A13 |
603471 |
Behavioral-symptoms |
behavior abnormal; behavioral aberrations; delusions; sudden aberrant behavior; behavioral abnormalities; crying like a child; struggling; raising voice
|
psychiatric |
11153906 #11432966 12132524 12602510 14680984 15050970 15805705 |
| SLC25A13 |
605814 |
Behavioral-symptoms |
behavioral aberrations; episodes; shouting; violence; abnormal behavior
|
psychiatric |
11343053 |
| SLC25A13 |
603471 |
Feeding-behavior |
like high protein diet; dislike high carbohydrate diet; dislike rice vegetables fruits sweets; fondness beans peanuts; fondness for eggs
|
psychiatric |
11153906 11432966 12602510 14680984 |
| SLC25A13 |
603471 |
Mental-disorders |
|
psychiatric |
#14680984 #15805705 |
| SLC25A13 |
603471 |
Schizophrenia-and-psychotic-disorders |
|
psychiatric |
#14680984 #15805705 |
| SLC25A13 |
603471 |
Psychotic-disorders |
psychotic symptoms; neuropsychotic symptoms
|
psychiatric |
14680984 15805705 |
| SLC25A13 |
603471 |
Splenomegaly |
splen enlarged
|
miscellaneous |
12512993 |
| SLC25A13 |
605814 |
Splenomegaly |
|
miscellaneous |
12424587 15542392 |
| SLC25A13 |
603471 |
Growth-disorders |
|
miscellaneous |
#12132524 |
| SLC25A13 |
605814 |
Growth-disorders |
|
miscellaneous |
#12424587 #14680984 #15542392 |
| SLC25A13 |
605814 |
Failure-to-thrive |
|
miscellaneous |
12424587 15542392 |
| SLC25A13 |
603471 |
Growth-deficiency |
short stature
|
miscellaneous |
12132524 |
| SLC25A13 |
605814 |
Growth-deficiency |
growth retardation
|
miscellaneous |
14680984 |
| SLC25A13 |
603471 |
Mitochondria-abnormal |
decreased cristae; mitochondria size variations; mitochondria shape variations
|
miscellaneous |
12512993 |
| SLC25A13 |
605814 |
Mitochondria-abnormal |
poorly developed christae; mitochondria size variations; mitochondria shape variations; mitochondria matrix density increased
|
miscellaneous |
11343052 11343053 |
| SLC25A13 |
605814 |
Alkaline-phosphatase-abnormal |
elevated
|
miscellaneous |
11281457 11343053 12424587 |
| SLC25A13 |
603471 |
Alpha-fetoprotein-abnormal |
elevation
|
miscellaneous |
12512993 |
| SLC25A13 |
605814 |
Alpha-fetoprotein-abnormal |
elevated; plasma; extremely high levels of plasma alpha fetoprotein
|
miscellaneous |
12424587 14680984 |
| SLC25A13 |
603471 |
Creatine-kinase-abnormal |
elevated
|
miscellaneous |
12132524 |
