{ "uniprot_canonical_ac": "P11166-1", "uniprot_ac": "P11166", "uniprot_id": "GTR1_HUMAN", "mass": { "chemical_mass": 54084.0, "monoisotopic_mass": 54084.0 }, "refseq": { "ac": "NP_006507", "name": "solute carrier family 2, facilitated glucose transporter member 1", "summary": "This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006507" }, "gene_names": [ { "name": "SLC2A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P11166", "id": "P11166" }, { "name": "CSE; DYT17; DYT18; DYT9; EIG12; GLUT; GLUT-1; GLUT1; GLUT1DS; HTLVR; PED; SDCHCN", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006507", "id": "NP_006507" }, { "name": "GLUT1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P11166", "id": "P11166" }, { "name": "SLC2A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006507", "id": "NP_006507" } ], "protein_names": [ { "name": "Solute carrier family 2, facilitated glucose transporter member 1", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P11166" }, { "name": "GLUT-1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11166" }, { "name": "Glucose transporter type 1, erythrocyte/brain", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11166" }, { "name": "HepG2 glucose transporter", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P11166" }, { "name": "hepG2 glucose transporter; glucose transporter type 1, erythrocyte/brain; human T-cell leukemia virus (I and II) receptor; receptor for HTLV-1 and HTLV-2; solute carrier family 2 (facilitated glucose transporter), member 1; choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity); dystonia gene 18; dystonia gene 9", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006507", "id": "NP_006507" }, { "name": "solute carrier family 2, facilitated glucose transporter member 1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006507", "id": "NP_006507" } ], "function": [ { "annotation": "Facilitative glucose transporter, which is responsible for constitutive or basal glucose uptake (PubMed:18245775, PubMed:19449892, PubMed:25982116, PubMed:27078104, PubMed:10227690). Has a very broad substrate specificity; can transport a wide range of aldoses including both pentoses and hexoses (PubMed:18245775, PubMed:19449892). Most important energy carrier of the brain: present at the blood-brain barrier and assures the energy-independent, facilitative transport of glucose into the brain (PubMed:10227690). In association with BSG and NXNL1, promotes retinal cone survival by increasing glucose uptake into photoreceptors (By similarity). Required for mesendoderm differentiation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P11166", "url": "https://www.uniprot.org/uniprot/P11166#function" }, { "database": "PubMed", "id": "19449892", "url": "https://glygen.org/publication/PubMed/19449892" }, { "database": "PubMed", "id": "27078104", "url": "https://glygen.org/publication/PubMed/27078104" }, { "database": "PubMed", "id": "25982116", "url": "https://glygen.org/publication/PubMed/25982116" }, { "database": "PubMed", "id": "18245775", "url": "https://glygen.org/publication/PubMed/18245775" }, { "database": "PubMed", "id": "10227690", "url": "https://glygen.org/publication/PubMed/10227690" }, { "database": "UniProtKB", "id": "P46896", "url": "https://www.uniprot.org/uniprot/P46896#function" }, { "database": "UniProtKB", "id": "P17809", "url": "https://www.uniprot.org/uniprot/P17809#function" } ] }, { "annotation": "GLUT-1 changes in paediatric Huntington disease brain cortex and fibroblasts: an observational case-control study.", "evidence": [ { "database": "RefSeq", "id": "NP_006507", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006507" }, { "database": "PubMed", "id": "37898095", "url": "https://glygen.org/publication/PubMed/37898095" } ] }, { "annotation": "GLUT-1 is a receptor for HTLV", "evidence": [ { "database": "RefSeq", "id": "NP_006507", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006507" }, { "database": "PubMed", "id": "14622599", "url": "https://glygen.org/publication/PubMed/14622599" } ] }, { "annotation": "Glut1 expression on CD8 dim T cells is associated with immune recovery in HIV-1-infected individuals.", "evidence": [ { "database": "RefSeq", "id": "NP_006507", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006507" }, { "database": "PubMed", "id": "38032044", "url": "https://glygen.org/publication/PubMed/38032044" } ] }, { "annotation": "Pigment epithelium-derived factor (PEDF) represses the glucose transporter 1 (GLUT1) mRNA expression and may be a potential therapeutic agent in psoriasis: a case-control and experimental study. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006507", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006507" }, { "database": "PubMed", "id": "38052851", "url": "https://glygen.org/publication/PubMed/38052851" } ] }, { "annotation": "SOX2 promotes vasculogenic mimicry by accelerating glycolysis via the lncRNA AC005392.2-GLUT1 axis in colorectal cancer. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_006507", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006507" }, { "database": "PubMed", "id": "38044399", "url": "https://glygen.org/publication/PubMed/38044399" } ] }, { "annotation": "This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013].", "evidence": [ { "database": "RefSeq", "id": "NP_006507", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006507" } ] } ], "disease": [ { "disease_id": "DOID:0090044", "recommended_name": { "id": "DOID:0090044", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090044", "name": "dystonia 9", "description": "A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34." }, "synonyms": [ { "id": "MONDO:0010983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010983", "name": "dystonia 9", "description": "A dystonia characterized by autosomal dominant inheritance of paroxysmal choreoathetosis and progressive spastic paraplegia, episodes are often precipitated by alcohol, fatigue, or emotional stress that has material basis in heterozygous mutation in the SLC2A1 gene on chromosome 1p34." }, { "id": "MONDO:0010983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010983", "name": "DYT9", "description": "" }, { "id": "MONDO:0010983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010983", "name": "dystonia 9", "description": "" }, { "id": "MONDO:0010983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010983", "name": "dystonia type 9", "description": "" }, { "id": "MONDO:0010983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010983", "name": "episodic choreoathetosis/spasticity", "description": "" }, { "id": "MONDO:0010983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010983", "name": "Cse choreoathetosis, paroxysmal, with episodic ataxia", "description": "" }, { "id": "MONDO:0010983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010983", "name": "choreoathetosis, kinesigenic, with episodic ataxia and spasticity", "description": "" }, { "id": "MONDO:0010983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010983", "name": "choreoathetosis/spasticity, episodic", "description": "" }, { "id": "MONDO:0010983", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010983", "name": "paroxysmal dystonic choreathetosis with episodic ataxia and spasticity", "description": "" }, { "id": "MIM:601042", "resource": "MIM", "url": "https://www.omim.org/entry/601042", "name": "Dystonia 9", "description": "Dystonia 9" } ], "evidence": [ { "id": "601042", "database": "MIM", "url": "https://www.omim.org/entry/601042" } ] }, { "disease_id": "DOID:0090045", "recommended_name": { "id": "DOID:0090045", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090045", "name": "childhood onset GLUT1 deficiency syndrome 2", "description": "A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34." }, "synonyms": [ { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "childhood onset GLUT1 deficiency syndrome 2", "description": "A form of paroxysmal dyskinesia, characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities." }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "DYT18", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "GLUT1 deficiency syndrome 2, childhood onset", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "GLUT1 deficiency syndrome type 2", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "PxMD-SLC2A1", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "childhood onset GLUT1 deficiency syndrome 2", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "childhood onset GLUT1 deficiency syndrome type 2", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "dystonia 18", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "paroxysmal exercise-induced dystonia", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "ped", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "DYT-SLC2A1", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "GLUT1 deficiency syndrome 2", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "GLUT1DS2", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anaemia", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "paroxysmal exertion-induced dyskinesia", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anaemia", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "ped with or without epilepsy and/or hemolytic Anaemia", "description": "" }, { "id": "MONDO:0012805", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012805", "name": "ped with or without epilepsy and/or hemolytic Anemia", "description": "" }, { "id": "MIM:612126", "resource": "MIM", "url": "https://www.omim.org/entry/612126", "name": "GLUT1 deficiency syndrome 2", "description": "GLUT1 deficiency syndrome 2" } ], "evidence": [ { "id": "612126", "database": "MIM", "url": "https://www.omim.org/entry/612126" } ] }, { "disease_id": "DOID:0111313", "recommended_name": { "id": "DOID:0111313", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111313", "name": "idiopathic generalized epilepsy 12", "description": "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2." }, "synonyms": [ { "id": "DOID:0111313", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111313", "name": "EIG12", "description": "" }, { "id": "MONDO:0013919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013919", "name": "epilepsy, idiopathic generalized, susceptibility to, 12", "description": "" }, { "id": "MONDO:0013919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013919", "name": "EIG12", "description": "" }, { "id": "MONDO:0013919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013919", "name": "epilepsy, idiopathic generalized, susceptibility to, 12", "description": "" }, { "id": "MONDO:0013919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013919", "name": "epilepsy, idiopathic generalized, susceptibility to, type 12", "description": "" }, { "id": "MONDO:0013919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013919", "name": "susceptibility to idiopathic generalised epilepsy 12", "description": "" }, { "id": "MONDO:0013919", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013919", "name": "susceptibility to idiopathic generalized epilepsy 12", "description": "" }, { "id": "MIM:614847", "resource": "MIM", "url": "https://www.omim.org/entry/614847", "name": "Epilepsy, idiopathic generalized 12", "description": "Epilepsy, idiopathic generalized 12" } ], "evidence": [ { "id": "614847", "database": "MIM", "url": "https://www.omim.org/entry/614847" } ] }, { "disease_id": "MONDO:0011724", "recommended_name": { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "encephalopathy due to GLUT1 deficiency", "description": "Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation." }, "synonyms": [ { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "De Vivo disease", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "GLUT1 deficiency syndrome 1, infantile onset, severe", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "GLUT1 deficiency syndrome type 1", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "GLUT1-DS", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "encephalopathy due to GLUT1 deficiency", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "glucose transporter type 1 deficiency", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "glut-1 deficiency syndrome", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "G1D", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "GLUT1 DS", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "GLUT1 deficiency syndrome", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "GLUT1 deficiency syndrome 1", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "GLUT1 deficiency syndrome 1, autosomal recessive", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "GLUT1DS1", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "glucose Transport defect, blood-brain barrier", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "glucose transport defect, blood-brain barrier", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "glucose transporter Protein syndrome", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "glucose transporter protein syndrome", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "glucose transporter type 1 deficiency syndrome", "description": "" }, { "id": "MONDO:0011724", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011724", "name": "glucose transporter type1 (glut-1) deficiency", "description": "" }, { "id": "MIM:606777", "resource": "MIM", "url": "https://www.omim.org/entry/606777", "name": "GLUT1 deficiency syndrome 1", "description": "GLUT1 deficiency syndrome 1" } ], "evidence": [ { "id": "606777", "database": "MIM", "url": "https://www.omim.org/entry/606777" } ] }, { "disease_id": "MONDO:0012143", "recommended_name": { "id": "MONDO:0012143", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012143", "name": "hereditary cryohydrocytosis with reduced stomatin", "description": "" }, "synonyms": [ { "id": "MONDO:0012143", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012143", "name": "ChC type 2", "description": "" }, { "id": "MONDO:0012143", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012143", "name": "hereditary cryohydrocytosis type 2", "description": "" }, { "id": "MONDO:0012143", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012143", "name": "sdCHC", "description": "" }, { "id": "MONDO:0012143", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012143", "name": "stomatin-deficient cryohydrocytosis", "description": "" }, { "id": "MONDO:0012143", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012143", "name": "GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis", "description": "" }, { "id": "MONDO:0012143", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012143", "name": "SDCHCN", "description": "" }, { "id": "MONDO:0012143", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012143", "name": "cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly", "description": "" }, { "id": "MONDO:0012143", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012143", "name": "cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly", "description": "" }, { "id": "MONDO:0012143", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012143", "name": "stomatin-deficient cryohydrocytosis with neurologic defects", "description": "" }, { "id": "MIM:608885", "resource": "MIM", "url": 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"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, 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"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": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P11166", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11166" } ], "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": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P11166", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11166" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P11166", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11166" } ], "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial 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": "P11166", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11166" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P11166", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11166" } ], "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": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "P11166", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11166" } ], "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": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "non-resectable primary hepatic malignant neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary liver cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "primary malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "resectable malignant neoplasm of the liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, not specified as primary or secondary", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P11166", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11166" } ], "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, 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"https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6513", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "138140", "url": "http://www.omim.org/entry/138140", "database": "MIM", "categories": [ "Other" ] }, { "id": "601042", "url": "http://www.omim.org/entry/601042", "database": "MIM", "categories": [ "Other" ] }, { "id": "606777", "url": "http://www.omim.org/entry/606777", "database": "MIM", "categories": [ "Other" ] }, { "id": "608885", "url": "http://www.omim.org/entry/608885", "database": "MIM", "categories": [ "Other" ] }, { "id": "612126", "url": "http://www.omim.org/entry/612126", "database": "MIM", "categories": [ "Other" ] }, { "id": "614847", "url": "http://www.omim.org/entry/614847", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P11166", "url": "https://www.nextprot.org/entry/NX_P11166", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P11166", "url": "https://oglcnac.org/atlas/detail/P11166", "database": "O-GlcNAc Atlas", "categories": [ "Glycoproteomics" ] }, { "id": "P11166", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11166", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "WAITASF", "url": "https://omabrowser.org/oma/group/WAITASF/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "1899001at2759", "url": "http://www.orthodb.org/?query=1899001at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR23503", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23503", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR23503:SF51", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR23503:SF51", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "4PYP", "url": "https://www.rcsb.org/structure/4PYP", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5EQG", "url": "https://www.rcsb.org/structure/5EQG", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5EQH", "url": "https://www.rcsb.org/structure/5EQH", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "5EQI", "url": "https://www.rcsb.org/structure/5EQI", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "6THA", "url": "https://www.rcsb.org/structure/6THA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00083", "url": "http://pfam.xfam.org/family/PF00083", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P11166", "url": "https://pharos.nih.gov/targets/P11166", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P11166", "url": "http://purl.obolibrary.org/obo/PR_P11166", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-189200", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-189200", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-196836", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-196836", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5619043", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5619043", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5653890", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5653890", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_006507", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_006507", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "60376", "url": "https://www.rhea-db.org/rhea/60376", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "A0A0D9SFK9", "url": "https://www.uniprot.org/uniprot/A0A0D9SFK9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0D9SFK9-1", "url": "https://www.uniprot.org/uniprot/A0A0D9SFK9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0D9SG74", "url": "https://www.uniprot.org/uniprot/A0A0D9SG74", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0D9SG74-1", "url": "https://www.uniprot.org/uniprot/A0A0D9SG74-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQ59", "url": "https://www.uniprot.org/uniprot/A0A1W2PQ59", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PQ59-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PQ59-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFI8", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFI8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A6Q8PFI8-1", "url": "https://www.uniprot.org/uniprot/A0A6Q8PFI8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NL68", "url": "https://www.uniprot.org/uniprot/A6NL68", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A6NL68-1", "url": "https://www.uniprot.org/uniprot/A6NL68-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11166", "url": "https://www.uniprot.org/uniprot/P11166", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P11166-1", "url": "https://www.uniprot.org/uniprot/P11166-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEPSSKKLTGRLMLAVGGAVLGSLQFGYNTGVINAPQKVIEEFYNQTWVHRYGESILPTTLTTLWSLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFEMLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLHQLGIVVGILIAQVFGLDSIMGNKDLWPLLLSIIFIPALLQCIVLPFCPESPRFLLINRNEENRAKSVLKKLRGTADVTHDLQEMKEESRQMMREKKVTILELFRSPAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGVQQPVYATIGSGIVNTAFTVVSLFVVERAGRRTLHLIGLAGMAGCAILMTIALALLEQLPWMSYLSIVAIFGFVAFFEVGPGPIPWFIVAELFSQGPRPAAIAVAGFSNWTSNFIVGMCFQYVEQLCGPYVFIIFTVLLVLFFIFTYFKVPETKGRTFDEIASGFRQGGASQSDKTPEELFHPLGADSQV", "length": 492, "header": "sp|P11166-1|GTR1_HUMAN Isoform 1 of Solute carrier family 2, facilitated glucose transporter member 1 OS=Homo sapiens OX=9606 GN=SLC2A1 PE=1 SV=2 CANONICAL=P11166-1" }, "isoforms": [ { "isoform_ac": "A0A0D9SFK9-1", "url": "", "sequence": { "sequence": "MEPSSKKLTGRLMLAVGGAVLGSLQFGYNTGVINAPQKVIEEFYNQTWVHRYGESILPTTLTTLWSLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFEMLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLHQLGIVVGILIAQC", "length": 173, "header": "tr|A0A0D9SFK9-1|A0A0D9SFK9_HUMAN Computationally mapped isoform of Solute carrier family 2 member 1 OS=Homo sapiens OX=9606 GN=SLC2A1 PE=1 SV=1 CANONICAL=P11166-1" }, "locus": { "chromosome": "1", "start_pos": 42958651, "end_pos": 42929778, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000630287.2", "url": "https://www.ensembl.org/id/ENST00000630287.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000486694.1", "url": "https://www.ensembl.org/id/ENSP00000486694.1" } ] } }, { "isoform_ac": "A0A0D9SG74-1", "url": "", "sequence": { "sequence": "XAPQKVIEEFYNQTWVHRYGESILPTTLTTLWSLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFEMLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLHQLGIVVGILIAQAAG", "length": 142, "header": "tr|A0A0D9SG74-1|GTR1_HUMAN Computationally mapped isoform of Solute carrier family 2, facilitated glucose transporter member 1 OS=Homo sapiens OX=9606 GN=SLC2A1 PE=1 SV=1 CANONICAL=P11166-1" }, "locus": { "chromosome": "1", "start_pos": 42943238, "end_pos": 42926968, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000475162.3", "url": "https://www.ensembl.org/id/ENST00000475162.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000487213.1", "url": "https://www.ensembl.org/id/ENSP00000487213.1" } ] } }, { "isoform_ac": "A0A1W2PQ59-1", "url": "", "sequence": { "sequence": "MEPSSKVYLWKIGPVHTSVGQPSISQLYKVSNHSVALWGYHVV", "length": 43, "header": "tr|A0A1W2PQ59-1|A0A1W2PQ59_HUMAN Computationally mapped isoform of Solute carrier family 2 member 1 OS=Homo sapiens OX=9606 GN=SLC2A1 PE=4 SV=1 CANONICAL=P11166-1" }, "locus": { "chromosome": "1", "start_pos": 42958651, "end_pos": 42951820, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000460369.3", "url": "https://www.ensembl.org/id/ENST00000460369.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000491942.1", "url": "https://www.ensembl.org/id/ENSP00000491942.1" } ] } }, { "isoform_ac": "A0A6Q8PFI8-1", "url": "", "sequence": { "sequence": "MEPSSKKLTGRLMLAVGGAVLGSLQFGYNTGVINAPQKVIEEFYNQTWVHRYGESILPTTLTTLWSLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFEMLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLHQLGIVVGILIAQVFGLDSIMGNKDLWPLLLSIIFIPALLQCIVLPFCPESPRFLLINRNEENRAKSVLKKLRGTADVTHDLQEMKEESRQMMREKKVTILELFRSPAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGVQQPVYATIGSGIVNTAFTVVSLFVVERAGRRTLHLIGLAGKSKTVAQIYSDKQQVL", "length": 359, "header": "tr|A0A6Q8PFI8-1|A0A6Q8PFI8_HUMAN Computationally mapped isoform of Solute carrier family 2 member 1 OS=Homo sapiens OX=9606 GN=SLC2A1 PE=1 SV=1 CANONICAL=P11166-1" }, "locus": { "chromosome": "1", "start_pos": 42958651, "end_pos": 42926810, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000674765.1", "url": "https://www.ensembl.org/id/ENST00000674765.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000501811.1", "url": "https://www.ensembl.org/id/ENSP00000501811.1" } ] } }, { "isoform_ac": "A6NL68-1", "url": "", "sequence": { "sequence": "MEPSSKVIEEFYNQTWVHRYGESILPTTLTTLWSLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFEMLILGRFIIGVYCGLTTGFVPMYVGEVS", "length": 116, "header": "tr|A6NL68-1|GTR1_HUMAN Computationally mapped isoform of Solute carrier family 2, facilitated glucose transporter member 1 OS=Homo sapiens OX=9606 GN=SLC2A1 PE=1 SV=2 CANONICAL=P11166-1" }, "locus": { "chromosome": "1", "start_pos": 42958651, "end_pos": 42930698, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000372500.4", "url": "https://www.ensembl.org/id/ENST00000372500.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000361578.4", "url": "https://www.ensembl.org/id/ENSP00000361578.4" } ] } }, { "isoform_ac": "P11166-1", "url": "", "sequence": { "sequence": "MEPSSKKLTGRLMLAVGGAVLGSLQFGYNTGVINAPQKVIEEFYNQTWVHRYGESILPTTLTTLWSLSVAIFSVGGMIGSFSVGLFVNRFGRRNSMLMMNLLAFVSAVLMGFSKLGKSFEMLILGRFIIGVYCGLTTGFVPMYVGEVSPTALRGALGTLHQLGIVVGILIAQVFGLDSIMGNKDLWPLLLSIIFIPALLQCIVLPFCPESPRFLLINRNEENRAKSVLKKLRGTADVTHDLQEMKEESRQMMREKKVTILELFRSPAYRQPILIAVVLQLSQQLSGINAVFYYSTSIFEKAGVQQPVYATIGSGIVNTAFTVVSLFVVERAGRRTLHLIGLAGMAGCAILMTIALALLEQLPWMSYLSIVAIFGFVAFFEVGPGPIPWFIVAELFSQGPRPAAIAVAGFSNWTSNFIVGMCFQYVEQLCGPYVFIIFTVLLVLFFIFTYFKVPETKGRTFDEIASGFRQGGASQSDKTPEELFHPLGADSQV", "length": 492, "header": "sp|P11166-1|GTR1_HUMAN Isoform 1 of Solute carrier family 2, facilitated glucose transporter member 1 OS=Homo sapiens OX=9606 GN=SLC2A1 PE=1 SV=2 CANONICAL=P11166-1" }, "locus": { "chromosome": "1", "start_pos": 42958651, "end_pos": 42927044, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000426263.10", "url": "https://www.ensembl.org/id/ENST00000426263.10" }, { "database": "Ensembl Peptide", "id": "ENSP00000416293.2", "url": "https://www.ensembl.org/id/ENSP00000416293.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 45, "start_aa": "Asn", "end_pos": 45, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn45", "evidence": [ { "id": "P11166", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P11166#ptm_processing" }, { "id": "3839598", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/3839598" }, { "id": "19349973", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19349973" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 465, "start_aa": "Ser", "end_pos": 465, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser465", "evidence": [ { "id": "P11166", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P11166" }, { "id": "34019948", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34019948" }, { "id": "34725712", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34725712" }, { "id": "35083852", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35083852" }, { "id": "18984734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18984734" }, { "id": "P11166", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P11166" }, { "id": "573", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/573" } ] }, { "glytoucan_ac": "G60230HH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "573", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/573" }, { "id": "2271582", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2271582" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "", "evidence": [ { "id": "573", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/573" }, { "id": "2271582", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/2271582" } ] } ], "phosphorylation": [ { "start_pos": 118, "end_pos": 118, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "P11166", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11166" }, { "database": "PubMed", "id": "20068231", "url": "https://glygen.org/publication/PubMed/20068231" } ], "site_lbl": "Ser118" }, { "start_pos": 226, "end_pos": 226, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine; by PKC/PRKCB", "evidence": [ { "database": "UniProtKB", "id": "P11166", "url": "https://www.uniprot.org/uniprot/P11166" }, { "database": "iPTMnet", "id": "P11166", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P11166" }, { "database": "PubMed", "id": "25982116", "url": "https://glygen.org/publication/PubMed/25982116" } ], "site_lbl": "Ser226" }, { "start_pos": 465, "end_pos": 465, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "P11166", "url": "https://www.uniprot.org/uniprot/P11166" }, { "database": "PubMed", "id": "23186163", "url": "https://glygen.org/publication/PubMed/23186163" }, { "database": "iPTMnet", "id": 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subset of 50 secretory granules in close contact with L-type Ca2+ channels accounts for first-phase insulin secretion in mouse beta-cells.", "journal": "Diabetes", "date": "2002", "authors": "Barg S, Eliasson L, Renstrom E, Rorsman P", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11815462", "url": "https://glygen.org/publication/PubMed/11815462" } ] }, { "title": "Triggering and augmentation mechanisms, granule pools, and biphasic insulin secretion.", "journal": "Diabetes", "date": "2002", "authors": "Bratanova-Tochkova TK, Cheng H, Daniel S, Gunawardana S, Liu YJ, Mulvaney-Musa J, Schermerhorn T, Straub SG, Yajima H, Sharp GW", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "11815463", "url": 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History, chemistry, metabolism, pharmacokinetics, clinical use and adverse effects.", "journal": "Pharmacotherapy", "date": "1985", "authors": "Feldman JM", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "3923453", "url": "https://glygen.org/publication/PubMed/3923453" } ] }, { "title": "Clinical experience with the oral antidiabetic compound, tolazamide.", "journal": "Canadian Medical Association journal", "date": "1967", "authors": "McKendry JB, Gfeller KF", "evidence": [ { "database": "Reactome", "id": "R-HSA-422356", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-422356" } ], "reference": [ { "type": "PubMed", "id": "6019353", "url": "https://glygen.org/publication/PubMed/6019353" } ] }, { "title": "Clinical pharmacology of glipizide.", "journal": "The American journal of medicine", "date": "1983", "authors": "Melander A, Wahlin-Boll E", "evidence": [ 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