{ "uniprot_canonical_ac": "P00846-1", "uniprot_ac": "P00846", "uniprot_id": "ATP6_HUMAN", "mass": { "chemical_mass": 24817.0, "monoisotopic_mass": 24817.0 }, "refseq": { "ac": "YP_003024031", "name": "ATP synthase F0 subunit 6", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024031" }, "gene_names": [ { "name": "MT-ATP6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P00846", "id": "P00846" }, { "name": "ATP6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024031", "id": "YP_003024031" }, { "name": "ATP6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00846", "id": "P00846" }, { "name": "ATPASE6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00846", "id": "P00846" }, { "name": "ATPase6; MTATP6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024031", "id": "YP_003024031" }, { "name": "MTATP6", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P00846", "id": "P00846" } ], "protein_names": [ { "name": "ATP synthase subunit a", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P00846" }, { "name": "ATP synthase F0 subunit 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/YP_003024031", "id": "YP_003024031" }, { "name": "F-ATPase protein 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P00846" } ], "function": [ { "annotation": "Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Key component of the proton channel; it may play a direct role in the translocation of protons across the membrane.", "evidence": [ { "database": "UniProtKB", "id": "P00846", "url": "https://www.uniprot.org/uniprot/P00846#function" } ] } ], "disease": [ { "disease_id": "DOID:0111184", "recommended_name": { "id": "DOID:0111184", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111184", "name": "myopathy, lactic acidosis, and sideroblastic anemia 3", "description": "A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome." }, "synonyms": [ { "id": "DOID:0111184", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111184", "name": "MLASA3", "description": "" }, { "id": "MONDO:0010782", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010782", "name": "myopathy, lactic acidosis, and sideroblastic anemia 3", "description": "" }, { "id": "MONDO:0010782", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010782", "name": "myopathy, lactic acidosis, and sideroblastic anaemia type 3", "description": "" }, { "id": "MONDO:0010782", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010782", "name": "myopathy, lactic acidosis, and sideroblastic anemia 3", "description": "" }, { "id": "MONDO:0010782", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010782", "name": "myopathy, lactic acidosis, and sideroblastic anemia type 3", "description": "" }, { "id": "MONDO:0010782", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010782", "name": "MLASA3", "description": "" }, { "id": "MIM:500011", "resource": "MIM", "url": "https://www.omim.org/entry/500011", "name": "Myopathy, lactic acidosis, and sideroblastic anemia 3", "description": "Myopathy, lactic acidosis, and sideroblastic anemia 3" } ], "evidence": [ { "id": "500011", "database": "MIM", "url": "https://www.omim.org/entry/500011" } ] }, { "disease_id": "DOID:0111273", "recommended_name": { "id": "DOID:0111273", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111273", "name": "NARP syndrome", "description": "A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6." }, "synonyms": [ { "id": "DOID:0111273", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111273", "name": "Neuropathy-ataxia-retinitis pigmentosa syndrome", "description": "" }, { "id": "DOID:0111273", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111273", "name": "neuropathy, ataxia and retinitis pigmentosa", "description": "" }, { "id": "DOID:0111273", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111273", "name": "Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome", "description": "" }, { "id": "MONDO:0010794", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010794", "name": "NARP syndrome", "description": "Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP) syndrome is a clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy." }, { "id": "MONDO:0010794", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010794", "name": "NARP syndrome", "description": "" }, { "id": "MONDO:0010794", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010794", "name": "neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome", "description": "" }, { "id": "MONDO:0010794", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010794", "name": "neuropathy-ataxia-retinitis pigmentosa syndrome", "description": "" }, { "id": "MONDO:0010794", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010794", "name": "NARP", "description": "" }, { "id": "MONDO:0010794", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010794", "name": "neuropathy ataxia retinitis pigmentosa syndrome", "description": "" }, { "id": "MONDO:0010794", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010794", "name": "neuropathy, ataxia, and retinitis pigmentosa", "description": "" }, { "id": "MIM:551500", "resource": "MIM", "url": "https://www.omim.org/entry/551500", "name": "Neuropathy, ataxia, and retinitis pigmentosa", "description": "Neuropathy, ataxia, and retinitis pigmentosa" } ], "evidence": [ { "id": "551500", "database": "MIM", "url": "https://www.omim.org/entry/551500" } ] }, { "disease_id": "DOID:0111748", "recommended_name": { "id": "DOID:0111748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111748", "name": "mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1", "description": "A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6." }, "synonyms": [ { "id": "DOID:0111748", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111748", "name": "MC5DM1", "description": "" }, { "id": "MONDO:0027069", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0027069", "name": "mitochondrial complex 5 (ATP synthase) deficiency, mitochondrial type 1", "description": "" }, { "id": "MONDO:0027069", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0027069", "name": "MC5DM1", "description": "" }, { "id": "MONDO:0027069", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0027069", "name": "mitochondrial complex V (ATP synthase) deficiency, mitochondrial type 1", "description": "" }, { "id": "MIM:500015", "resource": "MIM", "url": "https://www.omim.org/entry/500015", "name": "Mitochondrial complex V deficiency, mitochondrial 1", "description": "Mitochondrial complex V deficiency, mitochondrial 1" } ], "evidence": [ { "id": "500015", "database": "MIM", "url": "https://www.omim.org/entry/500015" } ] }, { "disease_id": "DOID:0111750", "recommended_name": { "id": "DOID:0111750", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111750", "name": "adult-onset ataxia and polyneuropathy", "description": "A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6." }, "synonyms": [ { "id": "MONDO:0010781", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010781", "name": "ataxia and polyneuropathy, adult-onset", "description": "" }, { "id": "MIM:500010", "resource": "MIM", "url": "https://www.omim.org/entry/500010", "name": "Ataxia and polyneuropathy, adult-onset", "description": "Ataxia and polyneuropathy, adult-onset" } ], "evidence": [ { "id": "500010", "database": "MIM", "url": "https://www.omim.org/entry/500010" } ] }, { "disease_id": "DOID:0111753", "recommended_name": { "id": "DOID:0111753", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111753", "name": "infantile hypertrophic cardiomyopathy", "description": "A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8." }, "synonyms": [ { "id": "MONDO:0010777", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010777", "name": "cardiomyopathy, infantile hypertrophic", "description": "" }, { "id": "MIM:500006", "resource": "MIM", "url": "https://www.omim.org/entry/500006", "name": "Cardiomyopathy, infantile hypertrophic", "description": "Cardiomyopathy, infantile hypertrophic" } ], "evidence": [ { "id": "500006", "database": "MIM", "url": "https://www.omim.org/entry/500006" } ] }, { "disease_id": "DOID:3652", "recommended_name": { "id": "DOID:3652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3652", "name": "Leigh disease", "description": "A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity." }, "synonyms": [ { "id": "DOID:3652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3652", "name": "Infantile necrotizing encephalomyelopathy", "description": "" }, { "id": "DOID:3652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3652", "name": "Leigh syndrome", "description": "" }, { "id": "DOID:3652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3652", "name": "juvenile subacute necrotizing encephalomyelopathy", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh syndrome", "description": "A progressive neurological disease defined by specific neuropathological features associating brainstem and basal ganglia lesions." }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "LS", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "LSS", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh disease", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh syndrome", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh syndrome spectrum", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh's disease", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "infantile necrotizing encephalomyelopathy", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "infantile subacute necrotizing encephalopathy", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "juvenile subacute necrotizing encephalomyelopathy", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh syndrome due to mitochondrial Complex 1 deficiency", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh syndrome due to mitochondrial Complex 2 deficiency", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh syndrome due to mitochondrial Complex 3 deficiency", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh syndrome due to mitochondrial Complex 4 deficiency", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh syndrome due to mitochondrial Complex 5 deficiency", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "Leigh's necrotizing encephalopathy", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "SNE", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "necrotizing encephalopathy, infantile Subacute, of Leigh", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "subacute necrotizing encephalomyelopathy", "description": "" }, { "id": "MONDO:0009723", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009723", "name": "subacute necrotizing encephalopathy", "description": "" }, { "id": "MIM:256000", "resource": "MIM", "url": "https://www.omim.org/entry/256000", "name": "Leigh syndrome", "description": "Leigh syndrome" } ], "evidence": [ { "id": "256000", "database": "MIM", "url": "https://www.omim.org/entry/256000" } ] }, { "disease_id": "DOID:4751", "recommended_name": { "id": "DOID:4751", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4751", "name": "striatonigral degeneration", "description": "" }, "synonyms": [ { "id": "MONDO:0012205", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012205", "name": "autosomal dominant striatal neurodegeneration type 1", "description": "Autosomal dominant striatal degeneration is a neurologic disorder characterized by variable movement abnormalities due to dysfunction in the striatal part of the basal ganglia." }, { "id": "MONDO:0012205", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012205", "name": "ADSD1", "description": "" }, { "id": "MONDO:0012205", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012205", "name": "PDE8B striatal degeneration, autosomal dominant", "description": "" }, { "id": "MONDO:0012205", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012205", "name": "striatal Degeneration, autosomal dominant 1", "description": "" }, { "id": "MONDO:0012205", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012205", "name": "striatal degeneration, autosomal dominant 1", "description": "" }, { "id": "MONDO:0012205", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012205", "name": "striatal degeneration, autosomal dominant caused by mutation in PDE8B", "description": "" }, { "id": "MONDO:0012205", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012205", "name": "ADSD", "description": "" }, { "id": "MONDO:0012205", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012205", "name": "autosomal dominant striatal neurodegeneration", "description": "" }, { "id": "MONDO:0012205", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012205", "name": "striatal degeneration, autosomal dominant", "description": "" }, { "id": "MONDO:0010774", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010774", "name": "striatonigral degeneration, infantile, mitochondrial", "description": "" }, { "id": "MONDO:0010774", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010774", "name": "striatonigral degeneration, infantile, mitochondrial", "description": "" }, { "id": "MONDO:0010774", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010774", "name": "bilateral striatal Necrosis, infantile, mitochondrial", "description": "" }, { "id": "MONDO:0010774", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010774", "name": "infantile bilateral striatal Necrosis, mitochondrial", "description": "" }, { "id": "MONDO:0010080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010080", "name": "familial infantile bilateral striatal necrosis", "description": "The familial form of infantile bilateral striatal necrosis (IBSN), a syndrome of bilateral symmetric spongy degeneration of the caudate nucleus, putamen and globus pallidus characterized by developmental regression, choreoathetosis and dystonia progressing to spastic quadriparesis." }, { "id": "MONDO:0010080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010080", "name": "familial IBSN", "description": "" }, { "id": "MONDO:0010080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010080", "name": "familial infantile striatonigral degeneration", "description": "" }, { "id": "MONDO:0010080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010080", "name": "familial infantile striatonigral necrosis", "description": "" }, { "id": "MONDO:0010080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010080", "name": "hereditary infantile bilateral striatal necrosis", "description": "" }, { "id": "MONDO:0010080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010080", "name": "FBSN", "description": "" }, { "id": "MONDO:0010080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010080", "name": "SNDI", "description": "" }, { "id": "MONDO:0010080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010080", "name": "bilateral striatal Necrosis, infantile", "description": "" }, { "id": "MONDO:0010080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010080", "name": "familial bilateral striatal necrosis", "description": "" }, { "id": "MONDO:0010080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010080", "name": "infantile bilateral striatal necrosis", "description": "" }, { "id": "MONDO:0010080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010080", "name": "striatal degeneration, familial", "description": "" }, { "id": "MONDO:0010080", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010080", "name": "striatonigral degeneration, infantile", "description": "" }, { "id": "MIM:609161", "resource": "MIM", "url": "https://www.omim.org/entry/609161", "name": "Striatal degeneration, autosomal dominant 1", "description": "Striatal degeneration, autosomal dominant 1" }, { "id": "MIM:500003", "resource": "MIM", "url": "https://www.omim.org/entry/500003", "name": "Mitochondrial infantile bilateral striatal necrosis", "description": "Mitochondrial infantile bilateral striatal necrosis" }, { "id": "MIM:271930", "resource": "MIM", "url": "https://www.omim.org/entry/271930", "name": "Infantile striatonigral degeneration", "description": "Infantile striatonigral degeneration" } ], "evidence": [ { "id": "500003", "database": "MIM", "url": "https://www.omim.org/entry/500003" } ] }, { "disease_id": "DOID:705", "recommended_name": { "id": "DOID:705", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:705", "name": "Leber hereditary optic neuropathy", "description": "" }, "synonyms": [ { "id": "DOID:705", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:705", "name": "Leber's hereditary optic neuropathy", "description": "" }, { "id": "DOID:705", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:705", "name": "Leber's optic atrophy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber hereditary optic neuropathy", "description": "Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers." }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "LHON", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber Hereditary optic atrophy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber hereditary optic neuropathy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber optic atrophy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber's hereditary optic neuropathy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Leber's optic atrophy", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "Lebers disease", "description": "" }, { "id": "MONDO:0010788", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010788", "name": "optic atrophy, Leber type", "description": "" }, { "id": "MIM:535000", "resource": "MIM", "url": "https://www.omim.org/entry/535000", "name": "Leber hereditary optic neuropathy", "description": "Leber hereditary optic neuropathy" } ], "evidence": [ { "id": "535000", "database": "MIM", "url": "https://www.omim.org/entry/535000" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "99.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198899", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198899" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "99.79", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198899", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198899" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "99.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198899", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198899" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "99.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198899", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198899" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "99.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198899", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198899" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "99.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198899", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198899" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "99.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198899", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198899" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "100", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198899", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198899" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "99.99", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000198899", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000198899" } ] } ], "expression_disease": [ { "significant": "No", "trend": "up", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P00846", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00846" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P00846", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00846" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P00846", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00846" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00846" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "Yes", "trend": "down", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P00846", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P00846" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": 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"glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Mitochondrial genome variation and the origin of modern humans.", "journal": "Nature", "date": "2000", "authors": "Ingman M, Kaessmann H, Paabo S, Gyllensten U", "evidence": [ { "database": "UniProtKB", "id": "P00846", "url": "https://www.uniprot.org/uniprot/P00846" } ], "reference": [ { "type": "PubMed", "id": "11130070", "url": "https://glygen.org/publication/PubMed/11130070" } ] }, { "title": "Major genomic mitochondrial lineages delineate early human expansions.", "journal": "BMC Genet.", "date": "2001", "authors": "Maca-Meyer N, Gonz\u00e1lez A M, Larruga J M, Flores C, Cabrera V M", "evidence": [ { "database": "UniProtKB", "id": "P00846", "url": "https://www.uniprot.org/uniprot/P00846" } ], "reference": [ { "type": "PubMed", "id": "11553319", "url": "https://glygen.org/publication/PubMed/11553319" } ] }, { "title": "Functional proteolytic complexes of the human mitochondrial ATP-dependent protease, hClpXP.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Kang SG, Ortega J, Singh SK, Wang N, Huang NN, Steven AC, Maurizi MR", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "11923310", "url": "https://glygen.org/publication/PubMed/11923310" } ] }, { "title": "Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America.", "journal": "Am. J. Hum. Genet.", "date": "2002", "authors": "Silva Wilson A, Bonatto Sandro L, Holanda Adriano J, Ribeiro-Dos-Santos Andrea K, Paix\u00e3o Beatriz M, Goldman Gustavo H, Abe-Sandes Kiyoko, Rodriguez-Delfin Luis, Barbosa Marcela, Pa\u00e7\u00f3-Larson Maria Luiza, Petzl-Erler Maria Luiza, Valente Valeria, Santos Sidney E B, Zago Marco A", "evidence": [ { "database": "UniProtKB", "id": "P00846", "url": "https://www.uniprot.org/uniprot/P00846" } ], "reference": [ { "type": "PubMed", "id": "12022039", "url": "https://glygen.org/publication/PubMed/12022039" } ] }, { "title": "Lon protease preferentially degrades oxidized mitochondrial aconitase by an ATP-stimulated mechanism.", "journal": "Nature cell biology", "date": "2002", "authors": "Bota DA, Davies KJ", "evidence": [ { "database": "Reactome", "id": "R-HSA-9837999", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9837999" } ], "reference": [ { "type": "PubMed", "id": "12198491", "url": "https://glygen.org/publication/PubMed/12198491" } ] }, { "title": "Natural selection shaped regional mtDNA variation in humans.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2003", "authors": "Mishmar D, Ruiz-Pesini E, Golik P, Macaulay V, Clark AG, Hosseini S, Brandon M, Easley K, Chen E, Brown MD, Sukernik RI, Olckers A, Wallace DC", "evidence": [ { "database": "UniProtKB", "id": "P00846", "url": "https://www.uniprot.org/uniprot/P00846" } ], "reference": [ { "type": "PubMed", "id": "12509511", "url": "https://glygen.org/publication/PubMed/12509511" } ] }, { "title": "Mitochondrial genome variation and evolutionary history of Australian and New Guinean aborigines.", "journal": "Genome Res.", "date": "2003", "authors": "Ingman Max, Gyllensten Ulf", "evidence": [ { "database": "UniProtKB", "id": "P00846", "url": "https://www.uniprot.org/uniprot/P00846" } ], "reference": [ { "type": "PubMed", "id": "12840039", "url": "https://glygen.org/publication/PubMed/12840039" } ] }, { "title": "Phylogeny of east Asian mitochondrial DNA lineages inferred from complete sequences.", "journal": "Am. 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