{ "uniprot_canonical_ac": "P02730-1", "uniprot_ac": "P02730", "uniprot_id": "B3AT_HUMAN", "mass": { "chemical_mass": 101792.0, "monoisotopic_mass": 101792.0 }, "refseq": { "ac": "NP_000333", "name": "band 3 anion transport protein", "summary": "The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000333" }, "gene_names": [ { "name": "SLC4A1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P02730", "id": "P02730" }, { "name": "AE1; BND3; CD233; CHC; DI; EMPB3; EPB3; FR; RTA1A; SAO; SPH4; SW; WD; WD1; WR", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000333", "id": "NP_000333" }, { "name": "AE1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02730", "id": "P02730" }, { "name": "DI", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02730", "id": "P02730" }, { "name": "EPB3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/P02730", "id": "P02730" }, { "name": "SLC4A1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000333", "id": "NP_000333" } ], "protein_names": [ { "name": "Band 3 anion transport protein", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P02730" }, { "name": "AE 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02730" }, { "name": "Anion exchange protein 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02730" }, { "name": "Anion exchanger 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02730" }, { "name": "Solute carrier family 4 member 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "P02730" }, { "name": "Waldner blood group; anion exchange protein 1; Swann blood group; Froese blood group; Wright blood group; erythrocyte membrane protein band 3; band 3 anion exchanger; solute carrier family 4, anion exchanger, number 1; erythroid anion exchange protein; anion exchanger-1; solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group); solute carrier family 4 (anion exchanger), member 1 (Diego blood group)", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000333", "id": "NP_000333" }, { "name": "band 3 anion transport protein", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000333", "id": "NP_000333" } ], "function": [ { "annotation": "(Microbial infection) Acts as a receptor for P.falciparum (isolate 3D7) MSP9 and thus, facilitates merozoite invasion of erythrocytes (PubMed:14630931). Acts as a receptor for P.falciparum (isolate 3D7) MSP1 and thus, facilitates merozoite invasion of erythrocytes (PubMed:12692305).", "evidence": [ { "database": "UniProtKB", "id": "P02730", "url": "https://www.uniprot.org/uniprot/P02730#function" }, { "database": "PubMed", "id": "14630931", "url": "https://glygen.org/publication/PubMed/14630931" }, { "database": "PubMed", "id": "12692305", "url": "https://glygen.org/publication/PubMed/12692305" } ] }, { "annotation": "Autosomal dominant distal renal tubular acidosis in two pediatric patients with mutations in the SLC4A1 gene. Can the maximum urinary pCO2 test be normal?", "evidence": [ { "database": "RefSeq", "id": "NP_000333", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000333" }, { "database": "PubMed", "id": "37775346", "url": "https://glygen.org/publication/PubMed/37775346" } ] }, { "annotation": "Functions both as a transporter that mediates electroneutral anion exchange across the cell membrane and as a structural protein (PubMed:35835865, PubMed:10926824, PubMed:14734552, PubMed:16227998, PubMed:24121512, PubMed:28387307, PubMed:1538405, PubMed:20151848). Component of the ankyrin-1 complex of the erythrocyte membrane; required for normal flexibility and stability of the erythrocyte membrane and for normal erythrocyte shape via the interactions of its cytoplasmic domain with cytoskeletal proteins, glycolytic enzymes, and hemoglobin (PubMed:35835865, PubMed:1538405, PubMed:20151848). Functions as a transporter that mediates the 1:1 exchange of inorganic anions across the erythrocyte membrane. Mediates chloride-bicarbonate exchange in the kidney, and is required for normal acidification of the urine (PubMed:10926824, PubMed:14734552, PubMed:16227998, PubMed:24121512, PubMed:28387307).", "evidence": [ { "database": "UniProtKB", "id": "P02730", "url": "https://www.uniprot.org/uniprot/P02730#function" }, { "database": "PubMed", "id": "20151848", "url": "https://glygen.org/publication/PubMed/20151848" }, { "database": "PubMed", "id": "16227998", "url": "https://glygen.org/publication/PubMed/16227998" }, { "database": "PubMed", "id": "10926824", "url": "https://glygen.org/publication/PubMed/10926824" }, { "database": "PubMed", "id": "24121512", "url": "https://glygen.org/publication/PubMed/24121512" }, { "database": "PubMed", "id": "28387307", "url": "https://glygen.org/publication/PubMed/28387307" }, { "database": "PubMed", "id": "14734552", "url": "https://glygen.org/publication/PubMed/14734552" }, { "database": "PubMed", "id": "1538405", "url": "https://glygen.org/publication/PubMed/1538405" }, { "database": "PubMed", "id": "35835865", "url": "https://glygen.org/publication/PubMed/35835865" } ] }, { "annotation": "Impaired trafficking and instability of mutant kidney anion exchanger 1 proteins associated with autosomal recessive distal renal tubular acidosis. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_000333", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000333" }, { "database": "PubMed", "id": "36320073", "url": "https://glygen.org/publication/PubMed/36320073" } ] }, { "annotation": "The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_000333", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000333" } ] } ], "disease": [ { "disease_id": "DOID:0110919", "recommended_name": { "id": "DOID:0110919", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110919", "name": "hereditary spherocytosis type 4", "description": "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31." }, "synonyms": [ { "id": "DOID:0110919", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110919", "name": "HS4", "description": "" }, { "id": "DOID:0110919", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110919", "name": "SPH4", "description": "" }, { "id": "DOID:0110919", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110919", "name": "hereditary spherocytosis 4", "description": "" }, { "id": "MONDO:0012981", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012981", "name": "hereditary spherocytosis type 4", "description": "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene." }, { "id": "MONDO:0012981", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012981", "name": "HS4", "description": "" }, { "id": "MONDO:0012981", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012981", "name": "SLC4A1 hereditary spherocytosis", "description": "" }, { "id": "MONDO:0012981", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012981", "name": "SPH4", "description": "" }, { "id": "MONDO:0012981", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012981", "name": "hereditary spherocytosis 4", "description": "" }, { "id": "MONDO:0012981", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012981", "name": "hereditary spherocytosis caused by mutation in SLC4A1", "description": "" }, { "id": "MONDO:0012981", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012981", "name": "spherocytosis, hereditary, 4", "description": "" }, { "id": "MONDO:0012981", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012981", "name": "spherocytosis, type 4", "description": "" }, { "id": "MIM:612653", "resource": "MIM", "url": "https://www.omim.org/entry/612653", "name": "Spherocytosis 4", "description": "Spherocytosis 4" } ], "evidence": [ { "id": "612653", "database": "MIM", "url": "https://www.omim.org/entry/612653" } ] }, { "disease_id": "DOID:2373", "recommended_name": { "id": "DOID:2373", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2373", "name": "hereditary elliptocytosis", "description": "A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present." }, "synonyms": [ { "id": "DOID:2373", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2373", "name": "Congenital elliptocytosis", "description": "" }, { "id": "DOID:2373", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2373", "name": "ovalocytosis", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "elliptocytosis 2", "description": "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the SPTA1 gene." }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "SPTA1 hereditary elliptocytosis", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "elliptocytosis 2", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "elliptocytosis type 2", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "elliptocytosis-2", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "hereditary elliptocytosis caused by mutation in SPTA1", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "EL2", "description": "" }, { "id": "MONDO:0007533", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007533", "name": "elliptocytosis, Rhesus-unlinked type", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "elliptocytosis 1", "description": "Any hereditary elliptocytosis in which the cause of the disease is a mutation in the EPB41 gene." }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "EPB41 hereditary elliptocytosis", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "elliptocytosis 1", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "elliptocytosis type 1", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "elliptocytosis-1", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "hereditary elliptocytosis caused by mutation in EPB41", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "4.1- trait", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "4.1-minus trait", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "EL1", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "Protein 4.1 of erythrocyte Membrane, defect of", "description": "" }, { "id": "MONDO:0012731", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012731", "name": "elliptocytosis, Rhesus-linked type", "description": "" }, { "id": "MIM:130600", "resource": "MIM", "url": "https://www.omim.org/entry/130600", "name": "Elliptocytosis 2", "description": "Elliptocytosis 2" }, { "id": "MIM:611804", "resource": "MIM", "url": "https://www.omim.org/entry/611804", "name": "Elliptocytosis 1", "description": "Elliptocytosis 1" } ], "evidence": [ { "id": "130600", "database": "MIM", "url": "https://www.omim.org/entry/130600" } ] }, { "disease_id": "MONDO:0008165", "recommended_name": { "id": "MONDO:0008165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008165", "name": "southeast Asian ovalocytosis", "description": "Southeast Asian ovalocytosis (SAO) is a rare hereditary red cell membrane defect characterized by the presence of oval-shaped erythrocytes and with most patients being asymptomatic or occasionally manifesting with mild symptoms such as pallor, jaundice, anemia and gallstones." }, "synonyms": [ { "id": "MONDO:0008165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008165", "name": "hereditary ovalocytosis", "description": "" }, { "id": "MONDO:0008165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008165", "name": "Melanesian elliptocytosis", "description": "" }, { "id": "MONDO:0008165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008165", "name": "Melanesian ovalocytosis", "description": "" }, { "id": "MONDO:0008165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008165", "name": "ovalocytosis, SA type", "description": "" }, { "id": "MONDO:0008165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008165", "name": "sao", "description": "" }, { "id": "MONDO:0008165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008165", "name": "stomatocytic elliptocytosis", "description": "" }, { "id": "MONDO:0008165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008165", "name": "elliptocytosis 4", "description": "" }, { "id": "MONDO:0008165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008165", "name": "elliptocytosis, stomatocytic hereditary", "description": "" }, { "id": "MONDO:0008165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008165", "name": "he, stomatocytic", "description": "" }, { "id": "MONDO:0008165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008165", "name": "ovalocytosis, Malaysian-Melanesian-Filipino type", "description": "" }, { "id": "MONDO:0008165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008165", "name": "ovalocytosis, hereditary hemolytic", "description": "" }, { "id": "MONDO:0008165", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008165", "name": "ovalocytosis, southeast Asian", "description": "" }, { "id": "MIM:166900", "resource": "MIM", "url": "https://www.omim.org/entry/166900", "name": "Ovalocytosis, Southeast Asian", "description": "Ovalocytosis, Southeast Asian" } ], "evidence": [ { "id": "166900", "database": "MIM", "url": "https://www.omim.org/entry/166900" } ] }, { "disease_id": "MONDO:0008368", "recommended_name": { "id": "MONDO:0008368", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008368", "name": "autosomal dominant distal renal tubular acidosis", "description": "Autosomal dominant distal renal tubular acidosis (AD dRTA) is an inherited form of distal renal tubular acidosis (dRTA) characterized by hyperchloremic metabolic acidosis often but not always associated with hypokalemia." }, "synonyms": [ { "id": "MONDO:0008368", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008368", "name": "AD dRTA", "description": "" }, { "id": "MONDO:0008368", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008368", "name": "autosomal dominant distal renal tubular acidosis (disease)", "description": "" }, { "id": "MONDO:0008368", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008368", "name": "distal renal tubular acidosis (disease), autosomal dominant", "description": "" }, { "id": "MONDO:0008368", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008368", "name": "distal renal tubular acidosis 1", "description": "" }, { "id": "MONDO:0008368", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008368", "name": "RTA, classic type", "description": "" }, { "id": "MONDO:0008368", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008368", "name": "RTA, distal type, autosomal dominant", "description": "" }, { "id": "MONDO:0008368", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008368", "name": "RTA, gradient type", "description": "" }, { "id": "MONDO:0008368", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008368", "name": "autosomal dominant SLC4A1-associated distal renal tubular acidosis", "description": "" }, { "id": "MONDO:0008368", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008368", "name": "renal tubular acidosis 1", "description": "" }, { "id": "MONDO:0008368", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008368", "name": "renal tubular acidosis, distal, autosomal dominant", "description": "" }, { "id": "MIM:179800", "resource": "MIM", "url": "https://www.omim.org/entry/179800", "name": "Renal tubular acidosis, distal, 1", "description": "Renal tubular acidosis, distal, 1" } ], "evidence": [ { "id": "179800", "database": "MIM", "url": "https://www.omim.org/entry/179800" } ] }, { "disease_id": "MONDO:0008494", "recommended_name": { "id": "MONDO:0008494", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008494", "name": "cryohydrocytosis", "description": "A rare, hereditary, hemolytic anemia due to a red cell membrane anomaly characterized by fatigue, mild anemia and pseudohyperkalemia due to a potassium leak from the red blood cells. A hallmark of this condition is that red blood cells lyse on storage at 4 degrees centigrade." }, "synonyms": [ { "id": "MONDO:0008494", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008494", "name": "CHC", "description": "" }, { "id": "MONDO:0008494", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008494", "name": "cryohydrocytosis", "description": "" }, { "id": "MONDO:0008494", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008494", "name": "hereditary cryohydrocytosis with normal stomatin", "description": "" }, { "id": "MONDO:0008494", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008494", "name": "stomatocytosis, cold-sensitive", "description": "" }, { "id": "MONDO:0008494", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008494", "name": "pseudohyperkalemia Cardiff", "description": "" }, { "id": "MIM:185020", "resource": "MIM", "url": "https://www.omim.org/entry/185020", "name": "Cryohydrocytosis", "description": "Cryohydrocytosis" } ], "evidence": [ { "id": "185020", "database": "MIM", "url": "https://www.omim.org/entry/185020" } ] }, { "disease_id": "MONDO:0012700", "recommended_name": { "id": "MONDO:0012700", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012700", "name": "renal tubular acidosis, distal, 4, with hemolytic anemia", "description": "Distal renal tubular acidosis (dRTA) with anemia is a very rare form of distal renal tubular acidosis (dRTA) characterized by a defect in renal acidification and hereditary hemolytic anemia." }, "synonyms": [ { "id": "MONDO:0012700", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012700", "name": "dRTA with anaemia", "description": "" }, { "id": "MONDO:0012700", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012700", "name": "dRTA with anemia", "description": "" }, { "id": "MONDO:0012700", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012700", "name": "distal renal tubular acidosis 4 with hemolytic anaemia", "description": "" }, { "id": "MONDO:0012700", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012700", "name": "distal renal tubular acidosis 4 with hemolytic anemia", "description": "" }, { "id": "MONDO:0012700", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012700", "name": "distal renal tubular acidosis with anaemia", "description": "" }, { "id": "MONDO:0012700", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012700", "name": "distal renal tubular acidosis with anemia", "description": "" }, { "id": "MONDO:0012700", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012700", "name": "RTA, distal, autosomal recessive, with hemolytic Anaemia", "description": "" }, { "id": "MONDO:0012700", "resource": "MONDO", "url": 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"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, 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"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", 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"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": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P02730", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02730" } ], "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 of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "down", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P02730", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02730" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that 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"https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P02730", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02730" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. 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": "down", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P02730", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02730" } ], "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": "down", "name": "Breast cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1612", "evidence": [ { "database": "BioXpress", "id": "P02730", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02730" } ], "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": "down", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "P02730", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02730" } ], "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": "down", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "P02730", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02730" } ], "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": "P02730", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02730" } ], "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": "No", "trend": "up", "name": "Uterine cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:363", "evidence": [ { "database": "BioXpress", "id": "P02730", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P02730" } ], "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", 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"MIM", "categories": [ "Other" ] }, { "id": "112010", "url": "http://www.omim.org/entry/112010", "database": "MIM", "categories": [ "Other" ] }, { "id": "112050", "url": "http://www.omim.org/entry/112050", "database": "MIM", "categories": [ "Other" ] }, { "id": "130600", "url": "http://www.omim.org/entry/130600", "database": "MIM", "categories": [ "Other" ] }, { "id": "166900", "url": "http://www.omim.org/entry/166900", "database": "MIM", "categories": [ "Other" ] }, { "id": "179800", "url": "http://www.omim.org/entry/179800", "database": "MIM", "categories": [ "Other" ] }, { "id": "185020", "url": "http://www.omim.org/entry/185020", "database": "MIM", "categories": [ "Other" ] }, { "id": "601550", "url": "http://www.omim.org/entry/601550", "database": "MIM", "categories": [ "Other" ] }, { "id": "601551", "url": "http://www.omim.org/entry/601551", "database": "MIM", "categories": [ "Other" ] }, { "id": "611162", "url": "http://www.omim.org/entry/611162", "database": "MIM", 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11453:SF12", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11453:SF12", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "1BH7", "url": "https://www.rcsb.org/structure/1BH7", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1BNX", "url": "https://www.rcsb.org/structure/1BNX", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1BTQ", "url": "https://www.rcsb.org/structure/1BTQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1BTR", "url": "https://www.rcsb.org/structure/1BTR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1BTS", "url": "https://www.rcsb.org/structure/1BTS", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1BTT", "url": "https://www.rcsb.org/structure/1BTT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1BZK", "url": "https://www.rcsb.org/structure/1BZK", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "1HYN", "url": "https://www.rcsb.org/structure/1HYN", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2BTA", "url": "https://www.rcsb.org/structure/2BTA", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "2BTB", "url": "https://www.rcsb.org/structure/2BTB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "3BTB", "url": "https://www.rcsb.org/structure/3BTB", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4KY9", "url": "https://www.rcsb.org/structure/4KY9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "4YZF", "url": "https://www.rcsb.org/structure/4YZF", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TVZ", "url": "https://www.rcsb.org/structure/7TVZ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TW0", "url": "https://www.rcsb.org/structure/7TW0", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TW1", "url": "https://www.rcsb.org/structure/7TW1", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TW2", "url": "https://www.rcsb.org/structure/7TW2", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TW3", "url": "https://www.rcsb.org/structure/7TW3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TW5", "url": "https://www.rcsb.org/structure/7TW5", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TW6", "url": "https://www.rcsb.org/structure/7TW6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TY4", "url": "https://www.rcsb.org/structure/7TY4", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TY6", "url": "https://www.rcsb.org/structure/7TY6", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7TY7", "url": "https://www.rcsb.org/structure/7TY7", "database": "PDB", 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"https://www.rcsb.org/structure/7V0T", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7V0U", "url": "https://www.rcsb.org/structure/7V0U", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7V0Y", "url": "https://www.rcsb.org/structure/7V0Y", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "7V19", "url": "https://www.rcsb.org/structure/7V19", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8CRQ", "url": "https://www.rcsb.org/structure/8CRQ", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8CRR", "url": "https://www.rcsb.org/structure/8CRR", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8CRT", "url": "https://www.rcsb.org/structure/8CRT", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8CS9", "url": "https://www.rcsb.org/structure/8CS9", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8CSL", "url": "https://www.rcsb.org/structure/8CSL", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8CSV", "url": "https://www.rcsb.org/structure/8CSV", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8CSY", "url": "https://www.rcsb.org/structure/8CSY", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8CT3", "url": "https://www.rcsb.org/structure/8CT3", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8CTE", "url": "https://www.rcsb.org/structure/8CTE", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8T6U", "url": "https://www.rcsb.org/structure/8T6U", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "8T6V", "url": "https://www.rcsb.org/structure/8T6V", "database": "PDB", "categories": [ "3D Structure" ] }, { "id": "PF00955", "url": "http://pfam.xfam.org/family/PF00955", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07565", "url": "http://pfam.xfam.org/family/PF07565", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "P02730", "url": "https://pharos.nih.gov/targets/P02730", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_P02730", "url": "http://purl.obolibrary.org/obo/PR_P02730", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-1237044", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1237044", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-1247673", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1247673", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "R-HSA-5619050", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5619050", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_000333", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_000333", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "72363", "url": "https://www.rhea-db.org/rhea/72363", "database": "Rhea", "categories": [ "Enzyme and Pathway" ] }, { "id": "P02730", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A0A0MS98", "url": "https://www.uniprot.org/uniprot/A0A0A0MS98", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0A0MS98-1", "url": "https://www.uniprot.org/uniprot/A0A0A0MS98-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02730", "url": "https://www.uniprot.org/uniprot/P02730", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02730-1", "url": "https://www.uniprot.org/uniprot/P02730-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P02730-2", "url": "https://www.uniprot.org/uniprot/P02730-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHDTEATATDYHTTSHPGTHKVYVELQELVMDEKNQELRWMEAARWVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLKHSHAGELEALGGVKPAVLTRSGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSEATLVLVGRADFLEQPVLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHIDYTQLGRAAATLMSERVFRIDAYMAQSRGELLHSLEGFLDCSLVLPPTDAPSEQALLSLVPVQRELLRRRYQSSPAKPDSSFYKGLDLNGGPDDPLQQTGQLFGGLVRDIRRRYPYYLSDITDAFSPQVLAAVIFIYFAALSPAITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGAQPLLVVGFSGPLLVFEEAFFSFCETNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFISRYTQEIFSFLISLIFIYETFSKLIKIFQDHPLQKTYNYNVLMVPKPQGPLPNTALLSLVLMAGTFFFAMMLRKFKNSSYFPGKLRRVIGDFGVPISILIMVLVDFFIQDTYTQKLSVPDGFKVSNSSARGWVIHPLGLRSEFPIWMMFASALPALLVFILIFLESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFGMPWLSATTVRSVTHANALTVMGKASTPGAAAQIQEVKEQRISGLLVAVLVGLSILMEPILSRIPLAVLFGIFLYMGVTSLSGIQLFDRILLLFKPPKYHPDVPYVKRVKTWRMHLFTGIQIICLAVLWVVKSTPASLALPFVLILTVPLRRVLLPLIFRNVELQCLDADDAKATFDEEEGRDEYDEVAMPV", "length": 911, "header": "sp|P02730-1|B3AT_HUMAN Isoform 1 of Band 3 anion transport protein OS=Homo sapiens OX=9606 GN=SLC4A1 PE=1 SV=3 CANONICAL=P02730-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MS98-1", "url": "", "sequence": { "sequence": "MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHDTEATATDYHTTSHPGTHKVYVELQELVMDEKNQELRWMEAARWVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLKHSHAGELEALGGVKPAVLTRSGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSEATLVLVGRADFLEQPVLGFVRLQEAAELEAVELPDTYTQKLSVPDGFKVSNSSARGWVIHPLGLRSEFPIWMMFASALPALLVFILIFLESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFGMPWLSATTVRSVTHANALTVMGKASTPGAAAQIQEVKEQRISGLLVAVLVGLSILMEPILSRIPLAVLFGIFLYMGVTSLSGIQLFDRILLLFKPPKYHPDVPYVKRVKTWRMHLFTGIQIICLAVLWVVKSTPASLALPFVLILTVPLRRVLLPLIFRNVELQCLDADDAKATFDEEEGRDEYDEVAMPV", "length": 545, "header": "tr|A0A0A0MS98-1|B3AT_HUMAN Computationally mapped isoform of Band 3 anion transport protein OS=Homo sapiens OX=9606 GN=SLC4A1 PE=1 SV=1 CANONICAL=P02730-1" }, "locus": { "chromosome": "17", "start_pos": 44262866, "end_pos": 44250461, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000399246.3", "url": "https://www.ensembl.org/id/ENST00000399246.3" }, { "database": "Ensembl Peptide", "id": "ENSP00000382190.3", "url": "https://www.ensembl.org/id/ENSP00000382190.3" } ] } }, { "isoform_ac": "P02730-1", "url": "", "sequence": { "sequence": "MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHDTEATATDYHTTSHPGTHKVYVELQELVMDEKNQELRWMEAARWVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLKHSHAGELEALGGVKPAVLTRSGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSEATLVLVGRADFLEQPVLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHIDYTQLGRAAATLMSERVFRIDAYMAQSRGELLHSLEGFLDCSLVLPPTDAPSEQALLSLVPVQRELLRRRYQSSPAKPDSSFYKGLDLNGGPDDPLQQTGQLFGGLVRDIRRRYPYYLSDITDAFSPQVLAAVIFIYFAALSPAITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGAQPLLVVGFSGPLLVFEEAFFSFCETNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFISRYTQEIFSFLISLIFIYETFSKLIKIFQDHPLQKTYNYNVLMVPKPQGPLPNTALLSLVLMAGTFFFAMMLRKFKNSSYFPGKLRRVIGDFGVPISILIMVLVDFFIQDTYTQKLSVPDGFKVSNSSARGWVIHPLGLRSEFPIWMMFASALPALLVFILIFLESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFGMPWLSATTVRSVTHANALTVMGKASTPGAAAQIQEVKEQRISGLLVAVLVGLSILMEPILSRIPLAVLFGIFLYMGVTSLSGIQLFDRILLLFKPPKYHPDVPYVKRVKTWRMHLFTGIQIICLAVLWVVKSTPASLALPFVLILTVPLRRVLLPLIFRNVELQCLDADDAKATFDEEEGRDEYDEVAMPV", "length": 911, "header": "sp|P02730-1|B3AT_HUMAN Isoform 1 of Band 3 anion transport protein OS=Homo sapiens OX=9606 GN=SLC4A1 PE=1 SV=3 CANONICAL=P02730-1" }, "locus": { "chromosome": "17", "start_pos": 44262866, "end_pos": 44250461, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000262418.12", "url": "https://www.ensembl.org/id/ENST00000262418.12" }, { "database": "Ensembl Peptide", "id": "ENSP00000262418.6", "url": "https://www.ensembl.org/id/ENSP00000262418.6" } ] } }, { "isoform_ac": "P02730-2", "url": "", "sequence": { "sequence": "MDEKNQELRWMEAARWVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLKHSHAGELEALGGVKPAVLTRSGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSEATLVLVGRADFLEQPVLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHIDYTQLGRAAATLMSERVFRIDAYMAQSRGELLHSLEGFLDCSLVLPPTDAPSEQALLSLVPVQRELLRRRYQSSPAKPDSSFYKGLDLNGGPDDPLQQTGQLFGGLVRDIRRRYPYYLSDITDAFSPQVLAAVIFIYFAALSPAITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGAQPLLVVGFSGPLLVFEEAFFSFCETNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFISRYTQEIFSFLISLIFIYETFSKLIKIFQDHPLQKTYNYNVLMVPKPQGPLPNTALLSLVLMAGTFFFAMMLRKFKNSSYFPGKLRRVIGDFGVPISILIMVLVDFFIQDTYTQKLSVPDGFKVSNSSARGWVIHPLGLRSEFPIWMMFASALPALLVFILIFLESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFGMPWLSATTVRSVTHANALTVMGKASTPGAAAQIQEVKEQRISGLLVAVLVGLSILMEPILSRIPLAVLFGIFLYMGVTSLSGIQLFDRILLLFKPPKYHPDVPYVKRVKTWRMHLFTGIQIICLAVLWVVKSTPASLALPFVLILTVPLRRVLLPLIFRNVELQCLDADDAKATFDEEEGRDEYDEVAMPV", "length": 846, "header": "sp|P02730-2|B3AT_HUMAN Isoform 2 of Band 3 anion transport protein OS=Homo sapiens OX=9606 GN=SLC4A1 PE=1 SV=3 CANONICAL=P02730-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 162, "start_aa": "Ser", "end_pos": 162, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser162", "evidence": [ { "id": "P02730", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P02730" }, { "id": "18984734", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/18984734" }, { "id": "P02730", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/P02730" }, { "id": "1024", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1024" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", 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characterization of NBC3, a new member of the sodium bicarbonate cotransporter family.", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Pushkin A, Abuladze N, Lee I, Newman D, Hwang J, Kurtz I", "evidence": [ { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "10347222", "url": "https://glygen.org/publication/PubMed/10347222" } ] }, { "title": "Characterization of Na+/HCO-3 cotransporter isoform NBC-3.", "journal": "The American journal of physiology", "date": "1999", "authors": "Amlal H, Burnham CE, Soleimani M", "evidence": [ { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "10362779", "url": "https://glygen.org/publication/PubMed/10362779" } ] }, { "title": "Calnexin interaction with N-glycosylation mutants of a polytopic membrane glycoprotein, the human erythrocyte anion exchanger 1 (band 3).", "journal": "The Journal of biological chemistry", "date": "1999", "authors": "Popov M, Reithmeier RA", "evidence": [ { "database": "Automatic Literature Mining", "id": "10364201", "url": "https://research.bioinformatics.udel.edu/glyco/pmid/10364201" } ], "reference": [ { "type": "PubMed", "id": "10364201", "url": "https://glygen.org/publication/PubMed/10364201" } ] }, { "title": "Assessment of roles of surface histidyl residues in the molecular basis of the Bohr effect and of beta 143 histidine in the binding of 2,3-bisphosphoglycerate in human normal adult hemoglobin.", "journal": "Biochemistry", "date": "1999", "authors": "Fang TY, Zou M, Simplaceanu V, Ho NT, Ho C", "evidence": [ { "database": "Reactome", "id": "R-HSA-1237044", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1237044" } ], "reference": [ { "type": "PubMed", "id": "10529219", "url": "https://glygen.org/publication/PubMed/10529219" } ] }, { 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[ { "type": "PubMed", "id": "8471774", "url": "https://glygen.org/publication/PubMed/8471774" } ] }, { "title": "Two-dimensional structure of the membrane domain of human band 3, the anion transport protein of the erythrocyte membrane.", "journal": "EMBO J.", "date": "1993", "authors": "Wang D N, K\u00fchlbrandt W, Sarabia V E, Reithmeier R A", "evidence": [ { "database": "UniProtKB", "id": "P02730", "url": "https://www.uniprot.org/uniprot/P02730" } ], "reference": [ { "type": "PubMed", "id": "8508760", "url": "https://glygen.org/publication/PubMed/8508760" } ] }, { "title": "Solution structure of a band 3 peptide inhibitor bound to aldolase: a proposed mechanism for regulating binding by tyrosine phosphorylation.", "journal": "Biochemistry", "date": "1995", "authors": "Schneider M L, Post C B", "evidence": [ { "database": "UniProtKB", "id": "P02730", "url": "https://www.uniprot.org/uniprot/P02730" } ], "reference": [ { "type": "PubMed", "id": "8527430", "url": "https://glygen.org/publication/PubMed/8527430" } ] }, { "title": "Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11.", "journal": "British journal of haematology", "date": "1995", "authors": "Maillet P, Vallier A, Reinhart WH, Wyss EJ, Ott P, Texier P, Baklouti F, Tanner MJ, Delaunay J, Alloisio N", "evidence": [ { "database": "UniProtKB", "id": "P02730", "url": "https://www.uniprot.org/uniprot/P02730" } ], "reference": [ { "type": "PubMed", "id": "8547122", "url": "https://glygen.org/publication/PubMed/8547122" } ] }, { "title": "Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis.", "journal": "Nature genetics", "date": "1996", "authors": "Eber SW, Gonzalez JM, Lux ML, Scarpa AL, Tse WT, Dornwell M, Herbers J, Kugler W, Ozcan R, Pekrun A, Gallagher PG, Schroter W, Forget BG, Lux SE", "evidence": [ { "database": "UniProtKB", "id": "P02730", "url": "https://www.uniprot.org/uniprot/P02730" } ], "reference": [ { "type": "PubMed", "id": "8640229", "url": "https://glygen.org/publication/PubMed/8640229" } ] }, { "title": "The preclinical pharmacology of dorzolamide hydrochloride, a topical carbonic anhydrase inhibitor.", "journal": "Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics", "date": "1996", "authors": "Sugrue MF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1237044", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1237044" } ], "reference": [ { "type": "PubMed", "id": "8875343", "url": "https://glygen.org/publication/PubMed/8875343" } ] }, { "title": "Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency.", "journal": "Blood", "date": "1996", "authors": "Jarolim P, Murray JL, Rubin HL, Taylor WM, Prchal JT, Ballas SK, Snyder LM, Chrobak L, Melrose WD, Brabec V, Palek J", "evidence": [ { "database": "UniProtKB", "id": "P02730", "url": "https://www.uniprot.org/uniprot/P02730" } ], "reference": [ { "type": "PubMed", "id": "8943874", "url": "https://glygen.org/publication/PubMed/8943874" } ] }, { "title": "The asymmetry of chloride transport at 38 degrees C in human red blood cell membranes.", "journal": "The Journal of general physiology", "date": "1996", "authors": "Knauf PA, Gasbjerg PK, Brahm J", "evidence": [ { "database": "Reactome", "id": "R-HSA-1237044", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1237044" } ], "reference": [ { "type": "PubMed", "id": "8972395", "url": "https://glygen.org/publication/PubMed/8972395" } ] }, { "title": "Novel band 3 variants (bands 3 Foggia, Napoli I and Napoli II) associated with hereditary spherocytosis and band 3 deficiency: status of the D38A polymorphism within the EPB3 locus.", "journal": "British journal of haematology", "date": "1997", "authors": "Miraglia del Giudice E, Vallier A, Maillet P, Perrotta S, Cutillo S, Iolascon A, Tanner MJ, Delaunay J, Alloisio N", "evidence": [ { "database": "UniProtKB", "id": "P02730", "url": "https://www.uniprot.org/uniprot/P02730" } ], "reference": [ { "type": "PubMed", "id": "9012689", "url": "https://glygen.org/publication/PubMed/9012689" } ] }, { "title": "Catalysis and inhibition of human carbonic anhydrase IV.", "journal": "Biochemistry", "date": "1997", "authors": "Baird TT Jr, Waheed A, Okuyama T, Sly WS, Fierke CA", "evidence": [ { "database": "Reactome", "id": "R-HSA-1237044", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1237044" } ], "reference": [ { "type": "PubMed", "id": "9054574", "url": "https://glygen.org/publication/PubMed/9054574" } ] }, { "title": "Identification of the major casein kinase I phosphorylation sites on erythrocyte band 3.", "journal": "Blood", "date": "1997", "authors": "Wang CC, Tao M, Wei T, Low PS", "evidence": [ { "database": "iPTMnet", "id": "P02730", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/P02730" } ], "reference": [ { "type": "PubMed", "id": "9108423", "url": "https://glygen.org/publication/PubMed/9108423" } ] }, { "title": "Dorzolamide. A review of its pharmacology and therapeutic potential in the management of glaucoma and ocular hypertension.", "journal": "Drugs & aging", "date": "1997", "authors": "Balfour JA, Wilde MI", "evidence": [ { "database": "Reactome", "id": "R-HSA-1237044", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1237044" } ], "reference": [ { "type": "PubMed", "id": "9143858", "url": "https://glygen.org/publication/PubMed/9143858" } ] }, { "title": "Blood group antigens Rb(a), Tr(a), and Wd(a) are located in the third ectoplasmic loop of erythroid band 3.", "journal": "Transfusion", "date": "1997", "authors": "Jarolim P, Murray J L, Rubin H L, Smart E, Moulds J M", "evidence": [ { "database": "UniProtKB", "id": "P02730", "url": "https://www.uniprot.org/uniprot/P02730" } ], "reference": [ { "type": "PubMed", "id": "9191821", "url": "https://glygen.org/publication/PubMed/9191821" } ] }, { "title": "Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.", "journal": "Blood", "date": "1997", "authors": "Alloisio N, Texier P, Vallier A, Ribeiro ML, Morle L, Bozon M, Bursaux E, Maillet P, Goncalves P, Tanner MJ, Tamagnini G, Delaunay J", "evidence": [ { "database": "UniProtKB", "id": "P02730", "url": "https://www.uniprot.org/uniprot/P02730" } ], "reference": [ { "type": "PubMed", "id": "9207478", "url": "https://glygen.org/publication/PubMed/9207478" } ] }, { "title": "Heterogenous band 3 deficiency in hereditary spherocytosis related to different band 3 gene defects.", "journal": "British journal of haematology", "date": "1997", "authors": "Dhermy D, Galand C, Bournier O, Boulanger L, Cynober T, Schismanoff PO, Bursaux E, Tchernia G, Boivin P, Garbarz M", "evidence": [ { "database": "UniProtKB", "id": "P02730", "url": "https://www.uniprot.org/uniprot/P02730" } ], "reference": [ { "type": "PubMed", "id": "9233560", "url": "https://glygen.org/publication/PubMed/9233560" } ] }, { "title": "Cloning and functional expression of a human kidney Na+:HCO3- cotransporter.", "journal": "The Journal of biological chemistry", "date": "1997", "authors": "Burnham CE, Amlal H, Wang Z, Shull GE, Soleimani M", "evidence": [ { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "9235899", "url": "https://glygen.org/publication/PubMed/9235899" } ] }, { "title": "Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene.", "journal": "The Journal of clinical investigation", "date": "1997", "authors": "Bruce LJ, Cope DL, Jones GK, Schofield AE, Burley M, Povey S, Unwin RJ, Wrong O, Tanner MJ", "evidence": [ { "database": "UniProtKB", "id": "P02730", "url": "https://www.uniprot.org/uniprot/P02730" }, { "database": "Reactome", "id": "R-HSA-425381", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-425381" } ], "reference": [ { "type": "PubMed", "id": "9312167", "url": 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aquaporin-1 on the CO2 permeability of Xenopus oocytes.", "journal": "The American journal of physiology", "date": "1998", "authors": "Nakhoul NL, Davis BA, Romero MF, Boron WF", "evidence": [ { "database": "Reactome", "id": "R-HSA-1237044", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1237044" } ], "reference": [ { "type": "PubMed", "id": "9486145", "url": "https://glygen.org/publication/PubMed/9486145" } ] }, { "title": "Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1998", "authors": "Karet FE, Gainza FJ, Gyory AZ, Unwin RJ, Wrong O, Tanner MJ, Nayir A, Alpay H, Santos F, Hulton SA, Bakkaloglu A, Ozen S, Cunningham MJ, di Pietro A, Walker WG, Lifton RP", "evidence": [ { "database": "UniProtKB", "id": "P02730", "url": "https://www.uniprot.org/uniprot/P02730" } ], "reference": [ 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Soc. Trans.", "date": "1998", "authors": "Chambers E J, Askin D, Bloomberg G B, Ring S M, Tanner M J", "evidence": [ { "database": "UniProtKB", "id": "P02730", "url": "https://www.uniprot.org/uniprot/P02730" } ], "reference": [ { "type": "PubMed", "id": "9765907", "url": "https://glygen.org/publication/PubMed/9765907" } ] }, { "title": "Characterization of seven low incidence blood group antigens carried by erythrocyte band 3 protein.", "journal": "Blood", "date": "1998", "authors": "Jarolim P, Rubin H L, Zakova D, Storry J, Reid M E", "evidence": [ { "database": "UniProtKB", "id": "P02730", "url": "https://www.uniprot.org/uniprot/P02730" } ], "reference": [ { "type": "PubMed", "id": "9845551", "url": "https://glygen.org/publication/PubMed/9845551" } ] }, { "title": "Novel AE1 mutations in recessive distal renal tubular acidosis. 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