{ "disease_id": "DOID:1099", "recommended_name": { "id": "DOID:1099", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1099", "name": "alpha thalassemia", "description": "A thalassemia involving the genes HBA1and HBA2 hemoglobin genes." }, "synonyms": [ { "id": "DOID:1099", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1099", "name": "Alpha thalassaemia", "description": "" }, { "id": "DOID:1099", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1099", "name": "alpha-Thalassemia", "description": "" }, { "id": "MONDO:0011399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011399", "name": "alpha thalassemia spectrum", "description": "An inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles." }, { "id": "MONDO:0011399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011399", "name": "alpha thalassaemia", "description": "" }, { "id": "MONDO:0011399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011399", "name": "alpha thalassemia spectrum", "description": "" }, { "id": "MONDO:0011399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011399", "name": "alpha-thalassemia", "description": "" }, { "id": "MONDO:0011399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011399", "name": "thalassemia, alpha-", "description": "" }, { "id": "MONDO:0011399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011399", "name": "thalassemias, alpha-", "description": "" }, { "id": "MONDO:0011399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011399", "name": "A-thalassemia", "description": "" }, { "id": "MONDO:0011399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011399", "name": "alpha-thalassemia trait", "description": "" }, { "id": "MIM:604131", "resource": "MIM", "url": "https://www.omim.org/entry/604131", "name": "Alpha-thalassemia", "description": "Alpha-thalassemia" } ], "children": [ { "id": "DOID:0110030", "label": "alpha thalassemia-X-linked intellectual disability syndrome", "link_status": true, "children": [] }, { "id": "DOID:0110031", "label": "hemoglobin H disease", "link_status": true, "children": [] } ], "id_list": [ "DOID:0110031", "DOID:1099", "DOID:0110030" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:1099", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1099", "categories": [] }, { "id": "MONDO:0011399", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011399", "categories": [] }, { "id": "MIM:604131", "database": "MIM", "url": "https://www.omim.org/entry/604131", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q9VF15-1", "uniprot_ac": "Q9VF15", "uniprot_id": "Q9VF15_DROME", "refseq_ac": "NP_001287343", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "1.11.1.-", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG9734-PF; glob1-PF; globin 1; hemoglobin; hemoglobin gene 1; haemoglobin", "resource": "RefSeq", "type": "synonym" }, { "name": "GEO09476p1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Globin 1, isoform A", "resource": "UniProtKB", "type": "synonym" }, { "name": "Globin 1, isoform B", "resource": "UniProtKB", "type": "synonym" }, { "name": "Globin 1, isoform C", "resource": "UniProtKB", "type": "synonym" }, { "name": "Globin 1, isoform D", "resource": "UniProtKB", "type": "synonym" }, { "name": "Globin 1, isoform F", "resource": "UniProtKB", "type": "synonym" }, { "name": "RH41321p", "resource": "UniProtKB", "type": "synonym" }, { "name": "globin 1, isoform F", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "glob1", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG9734; DmeGb1; dmeglob1; DmeGlob1; Dmel\\CG9734; DmHb; DmHb1; DroHb; Glob1; globin1; Hb", "resource": "RefSeq", "type": "synonym" }, { "name": "CG9734", "resource": "UniProtKB", "type": "synonym" }, { "name": "DmHb1", "resource": "UniProtKB", "type": "synonym" }, { "name": "DmHb", "resource": "UniProtKB", "type": "synonym" }, { "name": "DmeGb1", "resource": "UniProtKB", "type": "synonym" }, { "name": "DmeGlob1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG9734", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG9734", "resource": "UniProtKB", "type": "synonym" }, { "name": "DroHb", "resource": "UniProtKB", "type": "synonym" }, { "name": "Glob1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hb", "resource": "UniProtKB", "type": "synonym" }, { "name": "dmeglob1", "resource": "UniProtKB", "type": "synonym" }, { "name": "glob1", "resource": "RefSeq", "type": "synonym" }, { "name": "globin1", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "1099", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1099" } ] }, { "uniprot_canonical_ac": "Q4V6H2-1", "uniprot_ac": "Q4V6H2", "uniprot_id": "Q4V6H2_DROME", "refseq_ac": "NP_611393", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Glutathione peroxidase", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG15116-PA; Gpxl-PA", "resource": "RefSeq", "type": "synonym" }, { "name": "glutathione peroxidase-like", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Gpxl", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG15116; Dmel\\CG15116; GPx-like", "resource": "RefSeq", "type": "synonym" }, { "name": "CG15116", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG15116", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG15116", "resource": "UniProtKB", "type": "synonym" }, { "name": "GPx-like", "resource": "UniProtKB", "type": "synonym" }, { "name": "Gpxl", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "1099", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1099" } ] }, { "uniprot_canonical_ac": "P01942-1", "uniprot_ac": "P01942", "uniprot_id": "HBA_MOUSE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Hemoglobin subunit alpha", "resource": "UniProtKB", "type": "recommended" }, { "name": "Alpha-globin", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hemoglobin alpha chain", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Hba-a1", "resource": "UniProtKB", "type": "recommended" }, { "name": "Hba", "resource": "UniProtKB", "type": "recommended" }, { "name": "Glnc1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hba-a1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hba-a2", "resource": "UniProtKB", "type": "synonym" }, { "name": "haemaglobin alpha 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "haemaglobin alpha 2", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "1099", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1099" } ] }, { "uniprot_canonical_ac": "P02088-1", "uniprot_ac": "P02088", "uniprot_id": "HBB1_MOUSE", "refseq_ac": "NP_001265090", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Hemoglobin subunit beta-1", "resource": "UniProtKB", "type": "recommended" }, { "name": "Beta-1-globin", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hemoglobin beta-1 chain", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hemoglobin beta-major chain", "resource": "UniProtKB", "type": "synonym" }, { "name": "beta major globin", "resource": "RefSeq", "type": "synonym" }, { "name": "hemoglobin subunit beta-1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Hbb-b1", "resource": "UniProtKB", "type": "recommended" }, { "name": "AA409645; beta1; Hbb1; Hbbt1; Hbbt2; MommeD; MommeD7", "resource": "RefSeq", "type": "synonym" }, { "name": "Hbb-b1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "1099", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1099" } ] }, { "uniprot_canonical_ac": "B2RVB7-1", "uniprot_ac": "B2RVB7", "uniprot_id": "B2RVB7_MOUSE", "refseq_ac": "NP_001121158", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Globin b2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hemoglobin beta, bh2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Predicted gene, EG436003", "resource": "UniProtKB", "type": "synonym" }, { "name": "hemoglobin beta, bh2", "resource": "RefSeq", "type": "synonym" }, { "name": "hemoglobin beta, pseudogene bh2", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Hbb-bh2", "resource": "UniProtKB", "type": "recommended" }, { "name": "EG436003; Gm5736", "resource": "RefSeq", "type": "synonym" }, { "name": "EG436003", "resource": "UniProtKB", "type": "synonym" }, { "name": "Glnb2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Gm5736", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hbb-bh2", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "1099", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1099" } ] }, { "uniprot_canonical_ac": "P02089-1", "uniprot_ac": "P02089", "uniprot_id": "HBB2_MOUSE", "refseq_ac": "NP_058652", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Hemoglobin subunit beta-2", "resource": "UniProtKB", "type": "recommended" }, { "name": "Beta-2-globin", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hemoglobin beta-2 chain", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hemoglobin beta-minor chain", "resource": "UniProtKB", "type": "synonym" }, { "name": "beta min; beta minor globin", "resource": "RefSeq", "type": "synonym" }, { "name": "hemoglobin subunit beta-2", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Hbb-b2", "resource": "UniProtKB", "type": "recommended" }, { "name": "AI036344; beta2; Hbb2; Hbbt2", "resource": "RefSeq", "type": "synonym" }, { "name": "Hbb-b2", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "1099", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1099" } ] }, { "uniprot_canonical_ac": "A8DUK4-1", "uniprot_ac": "A8DUK4", "uniprot_id": "A8DUK4_MOUSE", "refseq_ac": "NP_001188320", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Beta-globin", "resource": "UniProtKB", "type": "synonym" }, { "name": "Globin a1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hemoglobin, beta adult s chain", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hemoglobin, beta adult t chain", "resource": "UniProtKB", "type": "synonym" }, { "name": "beta-single; beta-globin; hemoglobin subunit beta-1-like; beta s", "resource": "RefSeq", "type": "synonym" }, { "name": "hemoglobin, beta adult s chain", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Hbb-bs", "resource": "UniProtKB", "type": "recommended" }, { "name": "Beta-s; Hbbt1; Hbbt2", "resource": "RefSeq", "type": "synonym" }, { "name": "Glna1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hbb-bs", "resource": "RefSeq", "type": "synonym" }, { "name": "Hbb-bt", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hbbt1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hbbt2", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "1099", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1099" } ] }, { "uniprot_canonical_ac": "P11352-1", "uniprot_ac": "P11352", "uniprot_id": "GPX1_MOUSE", "refseq_ac": "NP_001316456", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Glutathione peroxidase 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "1.11.1.12", "resource": "UniProtKB", "type": "synonym" }, { "name": "1.11.1.9", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cellular glutathione peroxidase", "resource": "UniProtKB", "type": "synonym" }, { "name": "GPx-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "GSHPx-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Phospholipid-hydroperoxide glutathione peroxidase GPX1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Selenium-dependent glutathione peroxidase 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "cellular glutathione peroxidase; selenium-dependent glutathione peroxidase 1; phospholipid-hydroperoxide glutathione peroxidase GPX1", "resource": "RefSeq", "type": "synonym" }, { "name": "glutathione peroxidase 1 isoform 2", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Gpx1", "resource": "UniProtKB", "type": "recommended" }, { "name": "CGPx; Gpx; GPx-1; GSHPx-1", "resource": "RefSeq", "type": "synonym" }, { "name": "Gpx1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "1099", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1099" } ] }, { "uniprot_canonical_ac": "Q61646-1", "uniprot_ac": "Q61646", "uniprot_id": "HPT_MOUSE", "refseq_ac": "NP_059066", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Haptoglobin", "resource": "UniProtKB", "type": "recommended" }, { "name": "haptoglobin isoform 1 preproprotein", "resource": "RefSeq", "type": "synonym" }, { "name": "zonulin", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Hp", "resource": "UniProtKB", "type": "recommended" }, { "name": "HP-1; preHP2", "resource": "RefSeq", "type": "synonym" }, { "name": "Hp", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "1099", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1099" } ] }, { "uniprot_canonical_ac": "P69905-1", "uniprot_ac": "P69905", "uniprot_id": "HBA_HUMAN", "refseq_ac": "NP_000508", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Hemoglobin subunit alpha", "resource": "UniProtKB", "type": "recommended" }, { "name": "Alpha-globin", "resource": "UniProtKB", "type": "synonym" }, { "name": "Hemoglobin alpha chain", "resource": "UniProtKB", "type": "synonym" }, { "name": "alpha globin; alpha-2 globin; hemoglobin alpha chain; mutant hemoglobin alpha 2 globin chain; hemoglobin, alpha 2", "resource": "RefSeq", "type": "synonym" }, { "name": "hemoglobin subunit alpha", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "HBA1", "resource": "UniProtKB", "type": "recommended" }, { "name": "HBA2", "resource": "UniProtKB", "type": "recommended" }, { "name": "ECYT7; HBA-T2; HBH", "resource": "RefSeq", "type": "synonym" }, { "name": "HBA2", "resource": "RefSeq", "type": "synonym" }, { "name": "HBA2", "resource": "UniProtKB", "type": "synonym" }, { "name": "hCG_1745306", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "1099", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1099" }, { "id": "604131", "database": "MIM", "url": "https://www.omim.org/entry/604131" } ] }, { "uniprot_canonical_ac": "P00738-1", "uniprot_ac": "P00738", "uniprot_id": "HPT_HUMAN", "refseq_ac": "NP_001119574", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Haptoglobin", "resource": "UniProtKB", "type": "recommended" }, { "name": "Zonulin", "resource": "UniProtKB", "type": "synonym" }, { "name": "haptoglobin alpha(1S)-beta; haptoglobin alpha(2FS)-beta; haptoglobin, alpha polypeptide; haptoglobin, beta polypeptide; binding peptide; zonulin", "resource": "RefSeq", "type": "synonym" }, { "name": "haptoglobin isoform 2 preproprotein", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "HP", "resource": "UniProtKB", "type": "recommended" }, { "name": "BP; HP2ALPHA2; HPA1S", "resource": "RefSeq", "type": "synonym" }, { "name": "HP", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "1099", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1099" } ] }, { "uniprot_canonical_ac": "P07203-1", "uniprot_ac": "P07203", "uniprot_id": "GPX1_HUMAN", "refseq_ac": "NP_000572", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Glutathione peroxidase 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "1.11.1.12", "resource": "UniProtKB", "type": "synonym" }, { "name": "1.11.1.9", "resource": "UniProtKB", "type": "synonym" }, { "name": "Cellular glutathione peroxidase", "resource": "UniProtKB", "type": "synonym" }, { "name": "GPx-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "GSHPx-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Phospholipid-hydroperoxide glutathione peroxidase GPX1", "resource": "UniProtKB", "type": "synonym" }, { "name": "cellular glutathione peroxidase; 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