Mitochondria Phenome Knowledgebase

Gene Symbol ECGF1
Ensembl ID ENSG00000025708 Entrez 1890
Gene Alias MNGIE; PDECGF; TP; hPD-ECGF Subcellular Locations Cytoplasm Mitochondria-related Nucleus
Map Position 22q13|22q13.33 Subcell PMIDs 9924029 10741286
OMIM Gene 131222 Protein Complex
Swissprot ID P19971 Swissprot Description Thymidine phosphorylase precursor
OMIM Disease Myoneurogastrointestinal encephalopathy syndrome (MNGIE) [603041]

89 Gene-Feature associations for Gene ECGF1

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ECGF1 603041 Growth-deficiency impaired growth miscellaneous 16498612
ECGF1 603041 Growth-disorders miscellaneous #16498612
ECGF1 603041 Hearing-disorders hearing loss; sensorineural; audiogram abnormal; deaf; deafness; hypoacusia neurologic 16178026 16198108 16294144 16530527
ECGF1 603041 Heart-diseases cardiovascular #15607208
ECGF1 603041 Heart-valve-diseases mitral valve prolaps; prolaps cardiovascular 15607208
ECGF1 603041 Hematologic-diseases hematologic #12177387 #15607208 #15742109
ECGF1 603041 Hypoalbuminemia albumin levels decreased; hypoproteinemia hematologic 15607208 15742109
ECGF1 603041 Hyporeflexia hypoactive; deep tendon reflexes absent; areflexia neurologic 9683610 12177387 14720311 14757860 15742109 16178026 16198108 16294144 16498612 16530527
ECGF1 603041 Intestinal-obstruction intestinal pseudoobstruction; dysmotility; gastroparesis; peristalsis abnormal; constipation; bowel obstruction; bowel dilatation; ileus; neonatal ileus; gastrointestinal dysmotility; damage of the external muscular layer of the intestinal wall gastrointestinal 9683610 12177387 15742109 15781193 16120316 16178026 16198108 16294144 16498612 16530527
ECGF1 603041 Intracranial-embolism-and-thrombosis cerebral thrombosis; venous thrombosis; thrombosis neurologic 15742109
ECGF1 603041 Leukoencephalopathy MRI findings; patchy lesions; patchy leukoencephalopathy; diffuse leukoencephalopathy; periventricular; bifrontal; white matter abnormal neurologic 9683610 12177387 14720311 14757860 15607208 15781193 16120316 16178026 16198108 16294144 16498612
ECGF1 603041 Liver-cirrhosis esophageal bleeding related to cirrhosis gastrointestinal 15607208
ECGF1 603041 Liver-diseases hepatopathy gastrointestinal #15607208 16178026
ECGF1 603041 Memory-disorders impaired short term memory neurologic 16178026
ECGF1 603041 Menstruation-disturbances amenorrhea genitourinary 12177387
ECGF1 603041 Mental-retardation neurologic 14720311
ECGF1 603041 Metabolic-brain-diseases CSF protein elevated metabolic 16294144
ECGF1 603041 Metabolic-diseases metabolic #14720311 #14757860 #15781193 #16120316 #16178026 #16198108 #16294144 #16498612 #16530527
ECGF1 603041 Mitochondria-abnormal Ragged red fibers; dystrophic mitochondria; inclusions; lipid accumulations; mitochondria shape abnormal; mitochondria number abnormal; decreased COX staining; COX negative fibers miscellaneous 9683610 15742109 16120316 16198108 16294144 16530527
ECGF1 603041 Muscle-aching-and-stiffness neurologic 16178026
ECGF1 603041 Muscle-weakness symmetric; neck; deltoids; flexors; biceps brachii; iliopsoas neurologic 9683610 12177387 14757860 16178026 16198108 16498612 16530527
ECGF1 603041 Muscular-atrophy muscle wasting; diffuse; neurogenic atrophy; muscularis propria fibrosis; muscularis propria atrophy; atrophic fibers neurologic 9683610 12177387 16178026 16198108 16294144 16530527
ECGF1 603041 Muscular-diseases encephalomyopathy; myopathy; lipid droplets musculoskeletal 9683610 14720311 16120316 16198108 16530527
ECGF1 603041 Musculoskeletal-diseases musculoskeletal #9683610 #14720311 #15742109 #15781193 #16120316 #16198108 #16530527
ECGF1 603041 Nervous-system-diseases neurologic #9683610 #12177387 #14720311 #14757860 #15607208 #15742109 #15781193 #16120316 #16178026 #16198108 #16294144 #16498612 #16530527
ECGF1 603041 Neurobehavioral-manifestations neurologic #14720311 #16178026
ECGF1 603041 Neurologic-manifestations neurologic #9683610 #12177387 #14720311 #14757860 #15742109 #16178026 #16198108 #16294144 #16498612 #16530527
ECGF1 603041 Neuromuscular-manifestations neurologic #9683610 #12177387 #14757860 #16178026 #16198108 #16294144 #16498612 #16530527
ECGF1 603041 Neuronal-loss-and-lesions MRI findings; signal intensity abnormalities; white matter abnormal; corpus callosum abnormal; brainstem abnormal; blood neurologic 12177387 14757860 15742109 16198108 16294144 16530527
ECGF1 603041 Nucleoside-levels-abnormal increased; plasma; urine; deoxyuridine levels elevated; thymidine levels elevated metabolic 14720311 15781193 16120316 16198108 16498612 16530527
ECGF1 603041 Ocular-motility-disorders ophthalmologic #9683610 #12177387 #14757860 #15042378 #15607208 #15742109 #15781193 #16120316 #16178026 #16198108 #16294144 #16498612 #16530527
ECGF1 603041 Ophthalmoplegia ophthalmoparesis; external; enophthalmos; Pathology finding; myopathic pattern; ocular muscles abnormal; muscle atrophy; round fibres; fibrosis ophthalmologic 9683610 12177387 14757860 15042378 15607208 15781193 16120316 16178026 16198108 16294144 16498612 16530527
ECGF1 603041 Optic-nerve-diseases glaucomatous like; optic neuropathy ophthalmologic 15042378 16178026
ECGF1 603041 Pancreatic-diseases gastrointestinal #16294144
ECGF1 603041 Pancreatitis acute biliary pancreatitis; chronic pancreatitis gastrointestinal 16294144
ECGF1 603041 Paralysis-Paresis proximal paresis; distal paresis; arms and legs paresis; tetraparesis; facial diparesis neurologic 16198108 16530527
ECGF1 603041 Pathologic-nystagmus ophthalmologic 15742109
ECGF1 603041 Peripheral-nervous-system-diseases neurologic #9683610 #12177387 #14757860 #15607208 #15742109 #15781193 #16120316 #16178026 #16198108 #16294144 #16498612 #16530527
ECGF1 603041 Polyneuropathies polyneuropathy; sensorimotor neuropathy; demyelinating; burning sensation; allodynia; peripheral neuropathy; paresthesias; hypoesthesia; peripheral neuropathy; neuropathy; stocking glove sensory loss; axonal neuropathy neurologic 9683610 12177387 14757860 15607208 15742109 15781193 16120316 16178026 16198108 16294144 16498612 16530527
ECGF1 603041 Psychiatric-disorders psychiatric #16178026
ECGF1 603041 RCCI-deficiency muscle miscellaneous 15781193
ECGF1 603041 RCCIII-deficiency muscle miscellaneous 15781193 16198108
ECGF1 603041 RCCIV-deficiency muscle miscellaneous 15781193 16120316 16198108
ECGF1 603041 RCCV-deficiency muscle miscellaneous 15781193
ECGF1 603041 Reflexes-abnormal neurologic #9683610 #12177387 #14720311 #14757860 #15742109 #16178026 #16198108 #16294144 #16498612 #16530527
ECGF1 603041 Respiration-disorders respiratory #16198108
ECGF1 603041 Respiratory-insufficiency respiratory 16198108
ECGF1 603041 Respiratory-tract-diseases respiratory #16198108
ECGF1 603041 Retinal-diseases pigmentary retinopathy; hypopigmentation ophthalmologic 14720311 15042378
ECGF1 603041 Salivary-gland-diseases miscellaneous #16198108
ECGF1 603041 Seizures epilepsy neurologic 16530527
ECGF1 603041 Vision-disorders ophthalmologic #14757860
ECGF1 603041 Voice-disorders weak voice neurologic 16178026
ECGF1 603041 Vomiting nausea; recurrent gastrointestinal 12177387 14757860 16178026 16294144 16498612
ECGF1 603041 Xerostomia dry mouth; hyposalivation; hyposialosis miscellaneous 16198108
ECGF1 603041 Abdominal-pain borborygmi; abdominal cramping; bloating; abdominal distension; distension gastrointestinal 12177387 14757860 15742109 16178026 16294144 16498612 16530527
ECGF1 603041 Acid-base-imbalance metabolic #14720311 #14757860 #16198108 #16294144 #16530527
ECGF1 603041 Acidosis lactic acidosis; hyperlacacidemia; lactate elevated metabolic 14720311 14757860 16198108 16294144 16530527
ECGF1 603041 Anemia iron deficiency hematologic 12177387
ECGF1 603041 Arrhythmia EKG abnormal; tachycardia cardiovascular 15607208
ECGF1 603041 Ataxia gait ataxia; sensory ataxia neurologic 15742109 16294144 16498612
ECGF1 603041 Axonal-degeneration neurologic 9683610 14720311 15742109
ECGF1 603041 Behavioral-symptoms inappropriate behavior; occasional psychiatric 16178026
ECGF1 603041 Blepharoptosis bilateral ptosis; ptosis ophthalmologic 9683610 12177387 15042378 15781193 16120316 16178026 16198108 16294144 16498612 16530527
ECGF1 603041 Blood-protein-disorders hematologic #15607208 #15742109
ECGF1 603041 Brain-diseases neurologic #9683610 #12177387 #14720311 #14757860 #15607208 #15742109 #15781193 #16120316 #16178026 #16198108 #16294144 #16498612 #16530527
ECGF1 603041 Cachexia thin body habitus; thinness; cachectic miscellaneous 9683610 14720311 15781193 16120316 16198108 16294144 16498612 16530527
ECGF1 603041 Cardiorespiratory-arrest cardiac failure cardiovascular 16294144
ECGF1 603041 Cardiovascular-diseases cardiovascular #15607208 #16294144
ECGF1 603041 Central-nervous-system-diseases neurologic #9683610 #12177387 #14720311 #14757860 #15607208 #15742109 #15781193 #16120316 #16178026 #16198108 #16294144 #16498612 #16530527
ECGF1 603041 Cerebrovascular-disorders neurologic #15742109
ECGF1 603041 Deglutition-disorders dysphagia; oropharyngeal dysfunction gastrointestinal 16178026 16198108 16294144 16530527
ECGF1 603041 Diabetes-mellitus insulin dependent metabolic 15781193 16178026 16294144
ECGF1 603041 Diarrhea chronic diarrhea; recurrent diarrhea gastrointestinal 9683610 12177387 15742109 15781193 16294144 16498612 16530527
ECGF1 603041 Digestive-system-abnormalities diverticulosis; diverticular perforations; mesenteric abscesses; ileal diverticulae; diverticulae; peritonitis gastrointestinal 16294144 16498612 16530527
ECGF1 603041 Digestive-system-diseases gastrointestinal #9683610 #12177387 #14720311 #14757860 #15607208 #15742109 #15781193 #16120316 #16178026 #16198108 #16294144 #16498612 #16530527
ECGF1 603041 Diplopia ophthalmologic 14757860
ECGF1 603041 Electromyography-abnormal neurogenic changes; EMG patterns abnormal; demyelinating polyneuropathy signs neurologic 9683610 16198108 16498612 16530527
ECGF1 603041 Encephalopathy encephalomyopathy neurologic 14720311 15781193 16120316
ECGF1 603041 Esophageal-varices bleeding gastrointestinal 15607208
ECGF1 603041 Eye-diseases dry eyes ophthalmologic #9683610 #12177387 #14720311 #14757860 #15042378 #15607208 #15742109 #15781193 #16120316 #16178026 16198108 #16294144 #16498612 #16530527
ECGF1 603041 Feeding-difficulties food intolerance; anorexia; nervous anorexia gastrointestinal 12177387 15781193
ECGF1 603041 Female-genital-diseases genitourinary #12177387
ECGF1 603041 Foot-deformities pes cavus musculoskeletal 15742109 15781193 16530527
ECGF1 603041 Gait-disorders gait abnormalities; unsteady gait; unable to walk neurologic 16198108 16294144 16498612
ECGF1 603041 Gastrointestinal-diseases malabsorption; malnutrition; hypovitaminemia; vitamin E deficiency; denutrition; gastrointestinal dysmotility; Crohns disease like; early satiety gastrointestinal #9683610 #12177387 14720311 #15607208 15742109 15781193 16120316 #16178026 16198108 16294144 #16498612 16530527
ECGF1 603041 Genitourinary-diseases genitourinary #12177387
ECGF1 603041 Glaucoma glaucomatous changes of the optic disc ophthalmologic 15042378
ECGF1 603041 Glucose-metabolism-disorders metabolic #15781193 #16178026 #16294144

©2006-2009 Stanford Genome Technology Center, Stanford University | Webmastercreative commons