{ "disease_id": "DOID:0050458", "recommended_name": { "id": "DOID:0050458", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050458", "name": "juvenile myelomonocytic leukemia", "description": "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes." }, "synonyms": [ { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile myelomonocytic leukemia", "description": "A myelodysplastic/myeloproliferative neoplasm of childhood that is characterized by proliferation principally of the granulocytic and monocytic lineages. Myelomonocytic proliferation is seen in the bone marrow and the blood. The leukemic cells may infiltrate any tissue, however liver, spleen, lymph nodes, skin, and respiratory tract are the most common sites of involvement. (WHO, 2001)" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "chronic myelomonocytic leukaemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "chronic myelomonocytic leukemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "JCML", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "JMML", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myelogenous leukaemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myelogenous leukemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myeloid leukaemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myeloid leukemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myelomonocytic leukaemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile chronic myelomonocytic leukemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile myelomonocytic leukemia", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "juvenile myelomonocytic leukemia, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "leukemia, juvenile myelomonocytic, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0011908", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "name": "leukemia, juvenile myelomonocytic, somatic", "description": "" }, { "id": "MIM:607785", "resource": "MIM", "url": "https://www.omim.org/entry/607785", "name": "Leukemia, juvenile myelomonocytic", "description": "Leukemia, juvenile myelomonocytic" } ], "children": [], "id_list": [ "DOID:0050458" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0050458", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050458", "categories": [] }, { "id": "MONDO:0011908", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011908", "categories": [] }, { "id": "MIM:607785", "database": "MIM", "url": "https://www.omim.org/entry/607785", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "B0V237-1", "uniprot_ac": "B0V237", "uniprot_id": "B0V237_DANRE", "refseq_ac": "XP_002663133", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Tyrosine-protein kinase", "type": "recommended" }, { "name": "2.7.10.2", "type": "synonym" }, { "name": "tyrosine-protein kinase JAK3", "type": "synonym" } ], "gene_names": [ { "name": "jak3", "type": "recommended" }, { "name": "jak3", "type": "synonym" } ], "record_id": "B0V237-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "A0A8M9PLQ0-1", "uniprot_ac": "A0A8M9PLQ0", "uniprot_id": "A0A8M9PLQ0_DANRE", "refseq_ac": "XP_021322120", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Neurofibromin", "type": "recommended" }, { "name": "Neurofibromatosis-related protein NF-1", "type": "synonym" }, { "name": "neurofibromin isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "nf1a", "type": "recommended" }, { "name": "nf1a", "type": "synonym" } ], "record_id": "A0A8M9PLQ0-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "A0ACD6B5Y8-1", "uniprot_ac": "A0ACD6B5Y8", "uniprot_id": "A0ACD6B5Y8_DANRE", "refseq_ac": "XP_005169246", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Neurofibromin", "type": "recommended" }, { "name": "Neurofibromatosis-related protein NF-1", "type": "synonym" }, { "name": "neurofibromin isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "nf1b", "type": "recommended" }, { "name": "nf1b", "type": "synonym" } ], "record_id": "A0ACD6B5Y8-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "E7F983-1", "uniprot_ac": "E7F983", "uniprot_id": "E7F983_DANRE", "refseq_ac": "XP_005158666", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Uncharacterized protein akap12a", "type": "synonym" }, { "name": "uncharacterized protein akap12a", "type": "synonym" } ], "gene_names": [ { "name": "akap12a", "type": "recommended" }, { "name": "akap12a", "type": "synonym" } ], "record_id": "E7F983-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "A0A0R4IC31-1", "uniprot_ac": "A0A0R4IC31", "uniprot_id": "A0A0R4IC31_DANRE", "refseq_ac": "NP_001268717", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "A kinase (PRKA) anchor protein (gravin) 12b", "type": "synonym" }, { "name": "A kinase (PRKA) anchor protein (gravin) 12", "type": "synonym" }, { "name": "A-kinase anchor protein 12b isoform 1", "type": "synonym" }, { "name": "gravin", "type": "synonym" } ], "gene_names": [ { "name": "akap12b", "type": "recommended" }, { "name": "akap12b", "type": "synonym" }, { "name": "akap12", "type": "synonym" }, { "name": "cb27", "type": "synonym" }, { "name": "esr1", "type": "synonym" }, { "name": "fb72g12", "type": "synonym" }, { "name": "id:ibd1202", "type": "synonym" }, { "name": "sb:cb27", "type": "synonym" }, { "name": "si:ch73-192g21.1", "type": "synonym" }, { "name": "wu:fb72g12", "type": "synonym" }, { "name": "wu:fc21c03", "type": "synonym" } ], "record_id": "A0A0R4IC31-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "Q00342-1", "uniprot_ac": "Q00342", "uniprot_id": "FLT3_MOUSE", "refseq_ac": "NP_034359", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Receptor-type tyrosine-protein kinase FLT3", "type": "recommended" }, { "name": "2.7.10.1", "type": "synonym" }, { "name": "FL cytokine receptor", "type": "synonym" }, { "name": "FLK-2", "type": "synonym" }, { "name": "FLT-3", "type": "synonym" }, { "name": "Fetal liver kinase 2", "type": "synonym" }, { "name": "Fms-like tyrosine kinase 3", "type": "synonym" }, { "name": "Tyrosine-protein kinase receptor flk-2", "type": "synonym" }, { "name": "fetal liver kinase 2", "type": "synonym" }, { "name": "receptor-type tyrosine-protein kinase FLT3 precursor", "type": "synonym" }, { "name": "receptor-type tyrosine-protein kinase FLT3", "type": "synonym" }, { "name": "tyrosine-protein kinase FLT3", "type": "synonym" }, { "name": "tyrosine-protein kinase receptor flk-2", "type": "synonym" } ], "gene_names": [ { "name": "Flt3", "type": "recommended" }, { "name": "B230315G04", "type": "synonym" }, { "name": "CD135", "type": "synonym" }, { "name": "Flk-2", "type": "synonym" }, { "name": "Flk2", "type": "synonym" }, { "name": "Flt-3", "type": "synonym" }, { "name": "Flt3", "type": "synonym" }, { "name": "Ly72", "type": "synonym" }, { "name": "wmfl", "type": "synonym" } ], "record_id": "Q00342-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "Q04690-1", "uniprot_ac": "Q04690", "uniprot_id": "NF1_MOUSE", "refseq_ac": "NP_035027", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Neurofibromin", "type": "recommended" }, { "name": "Neurofibromatosis-related protein NF-1", "type": "synonym" }, { "name": "neurofibromatosis 1", "type": "synonym" }, { "name": "neurofibromatosis-related protein NF-1", "type": "synonym" }, { "name": "neurofibromin", "type": "synonym" } ], "gene_names": [ { "name": "Nf1", "type": "recommended" }, { "name": "Dsk9", "type": "synonym" }, { "name": "E030030H24Rik", "type": "synonym" }, { "name": "Mhdadsk9", "type": "synonym" }, { "name": "Nf-1", "type": "synonym" }, { "name": "Nf1", "type": "synonym" } ], "record_id": "Q04690-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P32883-1", "uniprot_ac": "P32883", "uniprot_id": "RASK_MOUSE", "refseq_ac": "NP_067259", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "GTPase KRas", "type": "recommended" }, { "name": "3.6.5.2", "type": "synonym" }, { "name": "GTPase KRas isoform 1", "type": "synonym" }, { "name": "GTPase KRas", "type": "synonym" }, { "name": "K-Ras 2", "type": "synonym" }, { "name": "Ki-Ras", "type": "synonym" }, { "name": "Kirsten rat sarcoma oncogene 2, expressed", "type": "synonym" }, { "name": "c-K-ras", "type": "synonym" }, { "name": "c-Ki-ras", "type": "synonym" }, { "name": "p21 protein", "type": "synonym" }, { "name": "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog", "type": "synonym" } ], "gene_names": [ { "name": "Kras", "type": "recommended" }, { "name": "K-Ras 2", "type": "synonym" }, { "name": "K-Ras", "type": "synonym" }, { "name": "K-ras", "type": "synonym" }, { "name": "Ki-ras", "type": "synonym" }, { "name": "Kras-2", "type": "synonym" }, { "name": "Kras2", "type": "synonym" }, { "name": "Kras", "type": "synonym" }, { "name": "c-K-ras", "type": "synonym" }, { "name": "c-Ki-ras", "type": "synonym" }, { "name": "p21B", "type": "synonym" }, { "name": "ras", "type": "synonym" } ], "record_id": "P32883-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P35235-2", "uniprot_ac": "P35235", "uniprot_id": "PTN11_MOUSE", "refseq_ac": "NP_001103462", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Tyrosine-protein phosphatase non-receptor type 11", "type": "recommended" }, { "name": "3.1.3.48", "type": "synonym" }, { "name": "Protein-tyrosine phosphatase SYP", "type": "synonym" }, { "name": "SH-PTP2", "type": "synonym" }, { "name": "SH2 domain-containing protein tyrosine phosphatase-2", "type": "synonym" }, { "name": "SHP-2", "type": "synonym" }, { "name": "Shp2", "type": "synonym" }, { "name": "protein-tyrosine phosphatase SYP", "type": "synonym" }, { "name": "tyrosine-protein phosphatase non-receptor type 11 isoform b", "type": "synonym" }, { "name": "tyrosine-protein phosphatase non-receptor type 11", "type": "synonym" } ], "gene_names": [ { "name": "Ptpn11", "type": "recommended" }, { "name": "2700084A17Rik", "type": "synonym" }, { "name": "PTP1D", "type": "synonym" }, { "name": "PTP2C", "type": "synonym" }, { "name": "Ptpn11", "type": "synonym" }, { "name": "SAP-2", "type": "synonym" }, { "name": "SH-PTP2", "type": "synonym" }, { "name": "SH-PTP3", "type": "synonym" }, { "name": "SHP-2", "type": "synonym" }, { "name": "Shp2", "type": "synonym" }, { "name": "Syp", "type": "synonym" } ], "record_id": "P35235-2", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P22682-1", "uniprot_ac": "P22682", "uniprot_id": "CBL_MOUSE", "refseq_ac": "NP_031645", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase CBL", "type": "recommended" }, { "name": "2.3.2.27", "type": "synonym" }, { "name": "Casitas B-lineage lymphoma proto-oncogene", "type": "synonym" }, { "name": "E3 ubiquitin-protein ligase CBL", "type": "synonym" }, { "name": "Proto-oncogene c-Cbl", "type": "synonym" }, { "name": "RING-type E3 ubiquitin transferase CBL", "type": "synonym" }, { "name": "Signal transduction protein CBL", "type": "synonym" }, { "name": "casitas B-lineage lymphoma proto-oncogene", "type": "synonym" }, { "name": "proto-oncogene c-CBL", "type": "synonym" }, { "name": "signal transduction protein CBL", "type": "synonym" } ], "gene_names": [ { "name": "Cbl", "type": "recommended" }, { "name": "4732447J05Rik", "type": "synonym" }, { "name": "Cbl-2", "type": "synonym" }, { "name": "Cbl", "type": "synonym" }, { "name": "c-Cbl", "type": "synonym" } ], "record_id": "P22682-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "Q6ZQ82-1", "uniprot_ac": "Q6ZQ82", "uniprot_id": "RHG26_MOUSE", "refseq_ac": "NP_780373", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Rho GTPase-activating protein 26", "type": "recommended" }, { "name": "Rho-type GTPase-activating protein 26", "type": "synonym" }, { "name": "rho GTPase-activating protein 26 isoform 1", "type": "synonym" }, { "name": "rho GTPase-activating protein 26", "type": "synonym" }, { "name": "rho-type GTPase-activating protein 26", "type": "synonym" } ], "gene_names": [ { "name": "Arhgap26", "type": "recommended" }, { "name": "1810044B20Rik", "type": "synonym" }, { "name": "2610010G17Rik", "type": "synonym" }, { "name": "4933432P15Rik", "type": "synonym" }, { "name": "Arhgap26", "type": "synonym" }, { "name": "Kiaa0621", "type": "synonym" }, { "name": "mKIAA0621", "type": "synonym" } ], "record_id": "Q6ZQ82-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "Q62137-1", "uniprot_ac": "Q62137", "uniprot_id": "JAK3_MOUSE", "refseq_ac": "NP_001177759", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Tyrosine-protein kinase JAK3", "type": "recommended" }, { "name": "2.7.10.2", "type": "synonym" }, { "name": "JAK-3", "type": "synonym" }, { "name": "Janus kinase 3", "type": "synonym" }, { "name": "tyrosine-protein kinase JAK3", "type": "synonym" } ], "gene_names": [ { "name": "Jak3", "type": "recommended" }, { "name": "Jak3", "type": "synonym" }, { "name": "fae", "type": "synonym" }, { "name": "wil", "type": "synonym" } ], "record_id": "Q62137-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P29351-1", "uniprot_ac": "P29351", "uniprot_id": "PTN6_MOUSE", "refseq_ac": "NP_001071173", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Tyrosine-protein phosphatase non-receptor type 6", "type": "recommended" }, { "name": "3.1.3.48", "type": "synonym" }, { "name": "70Z-SHP", "type": "synonym" }, { "name": "Hematopoietic cell protein-tyrosine phosphatase", "type": "synonym" }, { "name": "PTP-1C", "type": "synonym" }, { "name": "PTPTY-42", "type": "synonym" }, { "name": "Protein-tyrosine phosphatase 1C", "type": "synonym" }, { "name": "SH-PTP1", "type": "synonym" }, { "name": "SH2 phosphatase 1", "type": "synonym" }, { "name": "SHP-1", "type": "synonym" }, { "name": "hematopoietic cell protein-tyrosine phosphatase", "type": "synonym" }, { "name": "motheaten", "type": "synonym" }, { "name": "protein-tyrosine phosphatase 1C", "type": "synonym" }, { "name": "tyrosine-protein phosphatase non-receptor type 6 isoform b", "type": "synonym" }, { "name": "tyrosine-protein phosphatase non-receptor type 6", "type": "synonym" } ], "gene_names": [ { "name": "Ptpn6", "type": "recommended" }, { "name": "70Z-SHP", "type": "synonym" }, { "name": "Hcph", "type": "synonym" }, { "name": "Hcp", "type": "synonym" }, { "name": "PTPTY-42", "type": "synonym" }, { "name": "Ptp1C", "type": "synonym" }, { "name": "Ptpn6", "type": "synonym" }, { "name": "SH-PTP1", "type": "synonym" }, { "name": "SHP-1", "type": "synonym" }, { "name": "hcp", "type": "synonym" }, { "name": "me", "type": "synonym" } ], "record_id": "P29351-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P01587-1", "uniprot_ac": "P01587", "uniprot_id": "CSF2_MOUSE", "refseq_ac": "NP_034099", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Granulocyte-macrophage colony-stimulating factor", "type": "recommended" }, { "name": "CSF", "type": "synonym" }, { "name": "Colony-stimulating factor", "type": "synonym" }, { "name": "GM-CSF", "type": "synonym" }, { "name": "granulocyte-macrophage colony stimulating factor 2", "type": "synonym" }, { "name": "granulocyte-macrophage colony-stimulating factor precursor", "type": "synonym" }, { "name": "granulocyte-macrophage colony-stimulating factor", "type": "synonym" }, { "name": "put. GM-CSF", "type": "synonym" } ], "gene_names": [ { "name": "Csf2", "type": "recommended" }, { "name": "CSF", "type": "synonym" }, { "name": "Csf2", "type": "synonym" }, { "name": "Csfgm", "type": "synonym" }, { "name": "GMCSF", "type": "synonym" }, { "name": "Gm-CSf", "type": "synonym" }, { "name": "MGI-IGM", "type": "synonym" } ], "record_id": "P01587-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "Q9WTQ5-1", "uniprot_ac": "Q9WTQ5", "uniprot_id": "AKA12_MOUSE", "refseq_ac": "NP_112462", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "A-kinase anchor protein 12", "type": "recommended" }, { "name": "A kinase (PRKA) anchor protein (gravin) 12", "type": "synonym" }, { "name": "A-kinase anchor protein 12", "type": "synonym" }, { "name": "AKAP-12", "type": "synonym" }, { "name": "Germ cell lineage protein gercelin", "type": "synonym" }, { "name": "SSeCKS", "type": "synonym" }, { "name": "Src-suppressed C kinase substrate", "type": "synonym" }, { "name": "gercelin", "type": "synonym" }, { "name": "germ cell lineage protein gercelin", "type": "synonym" }, { "name": "src-suppressed C kinase substrate", "type": "synonym" }, { "name": "testis specific gene A12", "type": "synonym" }, { "name": "v-src suppressed transcript 5", "type": "synonym" } ], "gene_names": [ { "name": "Akap12", "type": "recommended" }, { "name": "Akap12", "type": "synonym" }, { "name": "Gag12", "type": "synonym" }, { "name": "SSeCKS", "type": "synonym" }, { "name": "Srcs5", "type": "synonym" }, { "name": "Ssecks", "type": "synonym" }, { "name": "Tsga12", "type": "synonym" } ], "record_id": "Q9WTQ5-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P01111-1", "uniprot_ac": "P01111", "uniprot_id": "RASN_HUMAN", "refseq_ac": "NP_002515", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "GTPase NRas", "type": "recommended" }, { "name": "3.6.5.2", "type": "synonym" }, { "name": "GTPase NRas", "type": "synonym" }, { "name": "N-ras protein part 4", "type": "synonym" }, { "name": "Transforming protein N-Ras", "type": "synonym" }, { "name": "neuroblastoma RAS viral (v-ras) oncogene homolog", "type": "synonym" }, { "name": "proto-oncogene GTPase", "type": "synonym" }, { "name": "transforming protein N-Ras", "type": "synonym" }, { "name": "v-ras neuroblastoma RAS viral oncogene homolog", "type": "synonym" } ], "gene_names": [ { "name": "NRAS", "type": "recommended" }, { "name": "ALPS4", "type": "synonym" }, { "name": "CMNS", "type": "synonym" }, { "name": "HRAS1", "type": "synonym" }, { "name": "N-ras", "type": "synonym" }, { "name": "NCMS", "type": "synonym" }, { "name": "NRAS1", "type": "synonym" }, { "name": "NRAS", "type": "synonym" }, { "name": "NS6", "type": "synonym" }, { "name": "RALD1", "type": "synonym" } ], "record_id": "P01111-1", "evidence": [ { "id": "607785", "database": "MIM", "url": "https://www.omim.org/entry/607785" } ] }, { "uniprot_canonical_ac": "P21359-1", "uniprot_ac": "P21359", "uniprot_id": "NF1_HUMAN", "refseq_ac": "NP_000258", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Neurofibromin", "type": "recommended" }, { "name": "Neurofibromatosis-related protein NF-1", "type": "synonym" }, { "name": "neurofibromatosis 1", "type": "synonym" }, { "name": "neurofibromatosis-related protein NF-1", "type": "synonym" }, { "name": "neurofibromin isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "NF1", "type": "recommended" }, { "name": "NF1", "type": "synonym" }, { "name": "NFNS", "type": "synonym" }, { "name": "VRNF", "type": "synonym" }, { "name": "WSS", "type": "synonym" } ], "record_id": "P21359-1", "evidence": [ { "id": "607785", "database": "MIM", "url": "https://www.omim.org/entry/607785" }, { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "Q06124-2", "uniprot_ac": "Q06124", "uniprot_id": "PTN11_HUMAN", "refseq_ac": "NP_001317366", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Tyrosine-protein phosphatase non-receptor type 11", "type": "recommended" }, { "name": "3.1.3.48", "type": "synonym" }, { "name": "PTP-1D", "type": "synonym" }, { "name": "PTP-2C", "type": "synonym" }, { "name": "Protein-tyrosine phosphatase 1D", "type": "synonym" }, { "name": "Protein-tyrosine phosphatase 2C", "type": "synonym" }, { "name": "SH-PTP2", "type": "synonym" }, { "name": "SH-PTP3", "type": "synonym" }, { "name": "SH2 domain-containing protein tyrosine phosphatase 2", "type": "synonym" }, { "name": "SHP-2", "type": "synonym" }, { "name": "Shp2", "type": "synonym" }, { "name": "protein-tyrosine phosphatase 1D", "type": "synonym" }, { "name": "protein-tyrosine phosphatase 2C", "type": "synonym" }, { "name": "tyrosine-protein phosphatase non-receptor type 11 isoform 3", "type": "synonym" } ], "gene_names": [ { "name": "PTPN11", "type": "recommended" }, { "name": "BPTP3", "type": "synonym" }, { "name": "CFC", "type": "synonym" }, { "name": "JMML", "type": "synonym" }, { "name": "METCDS", "type": "synonym" }, { "name": "NS1", "type": "synonym" }, { "name": "PTP-1D", "type": "synonym" }, { "name": "PTP2C", "type": "synonym" }, { "name": "PTPN11", "type": "synonym" }, { "name": "SH-PTP2", "type": "synonym" }, { "name": "SH-PTP3", "type": "synonym" }, { "name": "SHP2", "type": "synonym" }, { "name": "SHPTP2", "type": "synonym" } ], "record_id": "Q06124-2", "evidence": [ { "id": "607785", "database": "MIM", "url": "https://www.omim.org/entry/607785" }, { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P09619-1", "uniprot_ac": "P09619", "uniprot_id": "PGFRB_HUMAN", "refseq_ac": "NP_002600", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Platelet-derived growth factor receptor beta", "type": "recommended" }, { "name": "2.7.10.1", "type": "synonym" }, { "name": "Activated tyrosine kinase PDGFRB", "type": "synonym" }, { "name": "Beta platelet-derived growth factor receptor", "type": "synonym" }, { "name": "Beta-type platelet-derived growth factor receptor", "type": "synonym" }, { "name": "CD140 antigen-like family member B", "type": "synonym" }, { "name": "PDGF-R-beta", "type": "synonym" }, { "name": "PDGFR-1", "type": "synonym" }, { "name": "PDGFR-beta", "type": "synonym" }, { "name": "Platelet-derived growth factor receptor 1", "type": "synonym" }, { "name": "beta-type platelet-derived growth factor receptor", "type": "synonym" }, { "name": "platelet-derived growth factor receptor 1", "type": "synonym" }, { "name": "platelet-derived growth factor receptor beta isoform 1 precursor", "type": "synonym" }, { "name": "platelet-derived growth factor receptor, beta polypeptide", "type": "synonym" } ], "gene_names": [ { "name": "PDGFRB", "type": "recommended" }, { "name": "CD140B", "type": "synonym" }, { "name": "IBGC4", "type": "synonym" }, { "name": "IMF1", "type": "synonym" }, { "name": "JTK12", "type": "synonym" }, { "name": "KOGS", "type": "synonym" }, { "name": "OPDKD", "type": "synonym" }, { "name": "PDGFR-1", "type": "synonym" }, { "name": "PDGFR1", "type": "synonym" }, { "name": "PDGFRB", "type": "synonym" }, { "name": "PDGFR", "type": "synonym" }, { "name": "PENTT", "type": "synonym" } ], "record_id": "P09619-1", "evidence": [ { "id": "607785", "database": "MIM", "url": "https://www.omim.org/entry/607785" } ] }, { "uniprot_canonical_ac": "Q9Y6X0-1", "uniprot_ac": "Q9Y6X0", "uniprot_id": "SETBP_HUMAN", "refseq_ac": "NP_001123582", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "SET-binding protein", "type": "recommended" }, { "name": "SEB", "type": "synonym" }, { "name": "SET-binding protein isoform b", "type": "synonym" }, { "name": "SET-binding protein", "type": "synonym" } ], "gene_names": [ { "name": "SETBP1", "type": "recommended" }, { "name": "KIAA0437", "type": "synonym" }, { "name": "MRD29", "type": "synonym" }, { "name": "SEB", "type": "synonym" }, { "name": "SETBP1", "type": "synonym" } ], "record_id": "Q9Y6X0-1", "evidence": [ { "id": "607785", "database": "MIM", "url": "https://www.omim.org/entry/607785" } ] }, { "uniprot_canonical_ac": "Q9UNA1-1", "uniprot_ac": "Q9UNA1", "uniprot_id": "RHG26_HUMAN", "refseq_ac": "NP_001129080", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Rho GTPase-activating protein 26", "type": "recommended" }, { "name": "GRAF1", "type": "synonym" }, { "name": "GTPase regulator associated with focal adhesion kinase pp125(FAK)", "type": "synonym" }, { "name": "GTPase regulator associated with focal adhesion kinase", "type": "synonym" }, { "name": "Oligophrenin-1-like protein", "type": "synonym" }, { "name": "Rho-type GTPase-activating protein 26", "type": "synonym" }, { "name": "oligophrenin-1-like protein", "type": "synonym" }, { "name": "rho GTPase-activating protein 26 isoform b", "type": "synonym" } ], "gene_names": [ { "name": "ARHGAP26", "type": "recommended" }, { "name": "ARHGAP26", "type": "synonym" }, { "name": "GRAF1", "type": "synonym" }, { "name": "GRAF", "type": "synonym" }, { "name": "KIAA0621", "type": "synonym" }, { "name": "OPHN1L1", "type": "synonym" }, { "name": "OPHN1L", "type": "synonym" } ], "record_id": "Q9UNA1-1", "evidence": [ { "id": "607785", "database": "MIM", "url": "https://www.omim.org/entry/607785" }, { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P01116-1", "uniprot_ac": "P01116", "uniprot_id": "RASK_HUMAN", "refseq_ac": "NP_004976", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "GTPase KRas", "type": "recommended" }, { "name": "3.6.5.2", "type": "synonym" }, { "name": "GTPase KRas isoform b", "type": "synonym" }, { "name": "GTPase KRas", "type": "synonym" }, { "name": "K-Ras 2", "type": "synonym" }, { "name": "K-ras p21 protein", "type": "synonym" }, { "name": "KRAS-ENOPH fusion", "type": "synonym" }, { "name": "Ki-Ras", "type": "synonym" }, { "name": "Kirsten rat sarcoma viral oncogene homolog", "type": "synonym" }, { "name": "Kirsten rat sarcoma viral proto-oncogene", "type": "synonym" }, { "name": "Kras-Enoph1 fusion protein", "type": "synonym" }, { "name": "PR310 c-K-ras oncogene", "type": "synonym" }, { "name": "c-K-ras", "type": "synonym" }, { "name": "c-Ki-ras", "type": "synonym" }, { "name": "c-Kirsten-ras protein", "type": "synonym" }, { "name": "cellular c-Ki-ras2 proto-oncogene", "type": "synonym" }, { "name": "cellular transforming proto-oncogene", "type": "synonym" }, { "name": "oncogene KRAS2", "type": "synonym" }, { "name": "proto-oncogene GTPase", "type": "synonym" }, { "name": "transforming protein p21", "type": "synonym" }, { "name": "v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog", "type": "synonym" } ], "gene_names": [ { "name": "KRAS", "type": "recommended" }, { "name": "'C-K-RAS", "type": "synonym" }, { "name": "C-K-RAS", "type": "synonym" }, { "name": "CFC2", "type": "synonym" }, { "name": "K-RAS2A", "type": "synonym" }, { "name": "K-RAS2B", "type": "synonym" }, { "name": "K-RAS4A", "type": "synonym" }, { "name": "K-RAS4B", "type": "synonym" }, { "name": "K-Ras 2", "type": "synonym" }, { "name": "K-Ras", "type": "synonym" }, { "name": "KI-RAS", "type": "synonym" }, { "name": "KRAS1", "type": "synonym" }, { "name": "KRAS2", "type": "synonym" }, { "name": "KRAS", "type": "synonym" }, { "name": "NS3", "type": "synonym" }, { "name": "NS", "type": "synonym" }, { "name": "OES", "type": "synonym" }, { "name": "RALD2", "type": "synonym" }, { "name": "RALD", "type": "synonym" }, { "name": "RASK2", "type": "synonym" }, { "name": "c-Ki-ras2", "type": "synonym" }, { "name": "c-Ki-ras", "type": "synonym" } ], "record_id": "P01116-1", "evidence": [ { "id": "607785", "database": "MIM", "url": "https://www.omim.org/entry/607785" }, { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P18963-1", "uniprot_ac": "P18963", "uniprot_id": "IRA1_YEAST", "refseq_ac": "NP_009698", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Inhibitory regulator protein IRA1", "type": "recommended" }, { "name": "GTPase-activating protein IRA1", "type": "synonym" } ], "gene_names": [ { "name": "IRA1", "type": "recommended" }, { "name": "GLC1", "type": "synonym" }, { "name": "IRA1", "type": "synonym" }, { "name": "PPD1", "type": "synonym" }, { "name": "YBR1016", "type": "synonym" } ], "record_id": "P18963-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P19158-1", "uniprot_ac": "P19158", "uniprot_id": "IRA2_YEAST", "refseq_ac": "NP_014560", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Inhibitory regulator protein IRA2", "type": "recommended" }, { "name": "Ras GTPase activating protein IRA2", "type": "synonym" } ], "gene_names": [ { "name": "IRA2", "type": "recommended" }, { "name": "CCS1", "type": "synonym" }, { "name": "GLC4", "type": "synonym" }, { "name": "IRA2", "type": "synonym" }, { "name": "O0985", "type": "synonym" } ], "record_id": "P19158-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "A0A8I6G3R2-1", "uniprot_ac": "A0A8I6G3R2", "uniprot_id": "A0A8I6G3R2_RAT", "refseq_ac": "NP_001406884", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase CBL", "type": "recommended" }, { "name": "2.3.2.27", "type": "synonym" }, { "name": "Cas-Br-M (murine) ecotropic retroviral transforming sequence", "type": "synonym" }, { "name": "Casitas B-lineage lymphoma", "type": "synonym" }, { "name": "Cbl proto-oncogene, E3 ubiquitin protein ligase", "type": "synonym" }, { "name": "E3 ubiquitin-protein ligase CBL", "type": "synonym" } ], "gene_names": [ { "name": "Cbl", "type": "recommended" }, { "name": "Cbl", "type": "synonym" }, { "name": "RGD1561386", "type": "synonym" }, { "name": "c-Cbl", "type": "synonym" } ], "record_id": "A0A8I6G3R2-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "A0A8I6AL79-1", "uniprot_ac": "A0A8I6AL79", "uniprot_id": "A0A8I6AL79_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Rho GTPase-activating protein 26", "type": "recommended" }, { "name": "Rho-type GTPase-activating protein 26", "type": "synonym" } ], "gene_names": [ { "name": "Arhgap26", "type": "recommended" } ], "record_id": "A0A8I6AL79-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "Q63272-1", "uniprot_ac": "Q63272", "uniprot_id": "JAK3_RAT", "refseq_ac": "NP_036987", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Tyrosine-protein kinase JAK3", "type": "recommended" }, { "name": "2.7.10.2", "type": "synonym" }, { "name": "JAK-3", "type": "synonym" }, { "name": "Janus kinase 3, protein-tyrosine kinase", "type": "synonym" }, { "name": "Janus kinase 3", "type": "synonym" }, { "name": "tyrosine-protein kinase JAK3", "type": "synonym" } ], "gene_names": [ { "name": "Jak3", "type": "recommended" }, { "name": "Insl3", "type": "synonym" }, { "name": "Jak3", "type": "synonym" }, { "name": "RATJAK3", "type": "synonym" } ], "record_id": "Q63272-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P41499-2", "uniprot_ac": "P41499", "uniprot_id": "PTN11_RAT", "refseq_ac": "NP_001171064", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Tyrosine-protein phosphatase non-receptor type 11", "type": "recommended" }, { "name": "3.1.3.48", "type": "synonym" }, { "name": "PTP-1D", "type": "synonym" }, { "name": "Protein-tyrosine phosphatase 1D", "type": "synonym" }, { "name": "Protein-tyrosine phosphatase SYP", "type": "synonym" }, { "name": "SH-PTP2 protein tyrosine phosphatase, non-receptor type 11", "type": "synonym" }, { "name": "SH-PTP2", "type": "synonym" }, { "name": "SHP-2", "type": "synonym" }, { "name": "Shp2", "type": "synonym" }, { "name": "encodes catalytic domain", "type": "synonym" }, { "name": "protein tyrosine phosphatase SH-PTP2", "type": "synonym" }, { "name": "protein-tyrosine phosphatase 1D", "type": "synonym" }, { "name": "protein-tyrosine phosphatase SYP", "type": "synonym" }, { "name": "tyrosine-protein phosphatase non-receptor type 11 isoform 1", "type": "synonym" }, { "name": "tyrosine-protein phosphatase non-receptor type 11", "type": "synonym" } ], "gene_names": [ { "name": "Ptpn11", "type": "recommended" }, { "name": "Ptpn11", "type": "synonym" }, { "name": "Shp2", "type": "synonym" } ], "record_id": "P41499-2", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P97526-1", "uniprot_ac": "P97526", "uniprot_id": "NF1_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Neurofibromin", "type": "recommended" }, { "name": "Neurofibromatosis-related protein NF-1", "type": "synonym" } ], "gene_names": [ { "name": "Nf1", "type": "recommended" } ], "record_id": "P97526-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P81718-1", "uniprot_ac": "P81718", "uniprot_id": "PTN6_RAT", "refseq_ac": "NP_446360", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Tyrosine-protein phosphatase non-receptor type 6", "type": "recommended" }, { "name": "3.1.3.48", "type": "synonym" }, { "name": "Protein-tyrosine phosphatase SHP-1", "type": "synonym" }, { "name": "SH2 phosphatase 1", "type": "synonym" }, { "name": "protein-tyrosine phosphatase SHP-1", "type": "synonym" }, { "name": "tyrosine-protein phosphatase non-receptor type 6", "type": "synonym" } ], "gene_names": [ { "name": "Ptpn6", "type": "recommended" }, { "name": "Ptph6", "type": "synonym" }, { "name": "Ptpn6", "type": "synonym" }, { "name": "Shp-1", "type": "synonym" } ], "record_id": "P81718-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P48750-1", "uniprot_ac": "P48750", "uniprot_id": "CSF2_RAT", "refseq_ac": "NP_446304", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Granulocyte-macrophage colony-stimulating factor", "type": "recommended" }, { "name": "CSF", "type": "synonym" }, { "name": "Colony-stimulating factor", "type": "synonym" }, { "name": "GM-CSF", "type": "synonym" }, { "name": "colony stimulating factor 2 (granulocyte-macrophage)", "type": "synonym" }, { "name": "granulocyte-macrophage colony-stimulating factor precursor", "type": "synonym" }, { "name": "granulocyte-macrophage colony-stimulating factor", "type": "synonym" } ], "gene_names": [ { "name": "Csf2", "type": "recommended" }, { "name": "Csf2", "type": "synonym" }, { "name": "Csfgm", "type": "synonym" }, { "name": "Gm-csf", "type": "synonym" }, { "name": "Gmcsf", "type": "synonym" } ], "record_id": "P48750-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "Q5QD51-1", "uniprot_ac": "Q5QD51", "uniprot_id": "AKA12_RAT", "refseq_ac": "NP_001028825", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "A-kinase anchor protein 12", "type": "recommended" }, { "name": "A kinase (PRKA) anchor protein (gravin) 12", "type": "synonym" }, { "name": "A kinase (PRKA) anchor protein 12", "type": "synonym" }, { "name": "A-kinase anchor protein 12 isoform beta", "type": "synonym" }, { "name": "AKAP-12", "type": "synonym" }, { "name": "SSeCKS, Gravin, AKAP250", "type": "synonym" } ], "gene_names": [ { "name": "Akap12", "type": "recommended" }, { "name": "AKAP12A", "type": "synonym" }, { "name": "AKAP12B", "type": "synonym" }, { "name": "AKAP12G", "type": "synonym" }, { "name": "Akap12", "type": "synonym" } ], "record_id": "Q5QD51-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "A0A0G2JW59-1", "uniprot_ac": "A0A0G2JW59", "uniprot_id": "A0A0G2JW59_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Receptor-type tyrosine-protein kinase FLT3", "type": "recommended" }, { "name": "2.7.10.1", "type": "synonym" }, { "name": "FL cytokine receptor", "type": "synonym" }, { "name": "Fms-like tyrosine kinase 3", "type": "synonym" } ], "gene_names": [ { "name": "Flt3", "type": "recommended" } ], "record_id": "A0A0G2JW59-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P08644-1", "uniprot_ac": "P08644", "uniprot_id": "RASK_RAT", "refseq_ac": "NP_113703", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "GTPase KRas", "type": "recommended" }, { "name": "3.6.5.2", "type": "synonym" }, { "name": "GTPase KRas", "type": "synonym" }, { "name": "K-Ras 2", "type": "synonym" }, { "name": "Ki-Ras", "type": "synonym" }, { "name": "Kirsten rat sarcoma viral oncogene homologue 2 (active)", "type": "synonym" }, { "name": "c-K-ras2 protein", "type": "synonym" }, { "name": "c-K-ras", "type": "synonym" }, { "name": "c-Ki-ras", "type": "synonym" }, { "name": "c-Kirsten-ras proto-oncogene", "type": "synonym" }, { "name": "ki-Ras", "type": "synonym" }, { "name": "v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog", "type": "synonym" } ], "gene_names": [ { "name": "Hras", "type": "recommended" }, { "name": "Kras", "type": "recommended" }, { "name": "Nras", "type": "recommended" }, { "name": "Hras", "type": "synonym" }, { "name": "K-ras", "type": "synonym" }, { "name": "Kras2", "type": "synonym" }, { "name": "Kras", "type": "synonym" }, { "name": "c-Ki-ras", "type": "synonym" }, { "name": "p21", "type": "synonym" } ], "record_id": "P08644-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "O88969-1", "uniprot_ac": "O88969", "uniprot_id": "CST8_RAT", "refseq_ac": "NP_062131", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Cystatin-8", "type": "recommended" }, { "name": "Cystatin-related epididymal spermatogenic protein", "type": "synonym" }, { "name": "cystatin 8 (cystatin-related epididymal specific)", "type": "synonym" }, { "name": "cystatin 8 (cystatin-related epididymal spermatogenic)", "type": "synonym" }, { "name": "cystatin-8 precursor", "type": "synonym" }, { "name": "cystatin-related epididymal spermatogenic protein", "type": "synonym" } ], "gene_names": [ { "name": "Cst8", "type": "recommended" }, { "name": "Cres", "type": "synonym" }, { "name": "Cst8", "type": "synonym" } ], "record_id": "O88969-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P30938-1", "uniprot_ac": "P30938", "uniprot_id": "SSR5_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Somatostatin receptor type 5", "type": "recommended" }, { "name": "SS-5-R", "type": "synonym" }, { "name": "SS5-R", "type": "synonym" }, { "name": "SS5R", "type": "synonym" } ], "gene_names": [ { "name": "Sstr5", "type": "recommended" } ], "record_id": "P30938-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "Q9VSK2-1", "uniprot_ac": "Q9VSK2", "uniprot_id": "Q9VSK2_DROME", "refseq_ac": "NP_648224", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase CBL", "type": "recommended" }, { "name": "2.3.2.27", "type": "synonym" }, { "name": "CG7037-PB", "type": "synonym" }, { "name": "Cbl proto-oncogene ortholog", "type": "synonym" }, { "name": "Cbl proto-oncogene, isoform B", "type": "synonym" }, { "name": "Cbl-PB", "type": "synonym" }, { "name": "D-cblLONG", "type": "synonym" }, { "name": "D-cblSHORT", "type": "synonym" }, { "name": "cable", "type": "synonym" } ], "gene_names": [ { "name": "Cbl", "type": "recommended" }, { "name": "CBL", "type": "synonym" }, { "name": "CG7037", "type": "synonym" }, { "name": "CG7043", "type": "synonym" }, { "name": "Cbl", "type": "synonym" }, { "name": "D-Cbl L", "type": "synonym" }, { "name": "D-CblL", "type": "synonym" }, { "name": "D-Cbl", "type": "synonym" }, { "name": "D-cblL", "type": "synonym" }, { "name": "D-cblS", "type": "synonym" }, { "name": "D-cbl", "type": "synonym" }, { "name": "DCbl", "type": "synonym" }, { "name": "Dcbl", "type": "synonym" }, { "name": "Dmel\\CG7037", "type": "synonym" }, { "name": "Dmel_CG7037", "type": "synonym" }, { "name": "Dv-Cbl", "type": "synonym" }, { "name": "Dv-cbl", "type": "synonym" }, { "name": "F165", "type": "synonym" }, { "name": "anon-WO0118547.68", "type": "synonym" }, { "name": "cbl", "type": "synonym" }, { "name": "d-cbl", "type": "synonym" }, { "name": "dCbl", "type": "synonym" }, { "name": "v-Cbl", "type": "synonym" } ], "record_id": "Q9VSK2-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "Q24592-1", "uniprot_ac": "Q24592", "uniprot_id": "JAK_DROME", "refseq_ac": "NP_511119", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Tyrosine-protein kinase hopscotch", "type": "recommended" }, { "name": "2.7.10.2", "type": "synonym" }, { "name": "CG1594-PA", "type": "synonym" }, { "name": "Hop", "type": "synonym" }, { "name": "JAK kinase", "type": "synonym" }, { "name": "Janus-family kinase", "type": "synonym" }, { "name": "hop-PA", "type": "synonym" }, { "name": "hopscotch", "type": "synonym" }, { "name": "hopskotch", "type": "synonym" }, { "name": "janus kinase", "type": "synonym" }, { "name": "locus 18", "type": "synonym" }, { "name": "tumorous", "type": "synonym" } ], "gene_names": [ { "name": "hop", "type": "recommended" }, { "name": "4", "type": "synonym" }, { "name": "CG1594", "type": "synonym" }, { "name": "Dm JAK", "type": "synonym" }, { "name": "DmHD-160", "type": "synonym" }, { "name": "Dmel\\CG1594", "type": "synonym" }, { "name": "HD-160", "type": "synonym" }, { "name": "HOP", "type": "synonym" }, { "name": "Hop1", "type": "synonym" }, { "name": "Hop2", "type": "synonym" }, { "name": "Hop", "type": "synonym" }, { "name": "Hpo", "type": "synonym" }, { "name": "JAK", "type": "synonym" }, { "name": "Jak", "type": "synonym" }, { "name": "L4", "type": "synonym" }, { "name": "Tum-1", "type": "synonym" }, { "name": "Tum", "type": "synonym" }, { "name": "d-jak", "type": "synonym" }, { "name": "hop/JAK", "type": "synonym" }, { "name": "hop", "type": "synonym" }, { "name": "jak", "type": "synonym" }, { "name": "l(1)10Be", "type": "synonym" }, { "name": "l(1)G18", "type": "synonym" }, { "name": "l(1)L4", "type": "synonym" }, { "name": "l(1)hop", "type": "synonym" }, { "name": "msvl", "type": "synonym" } ], "record_id": "Q24592-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "X2JDY8-1", "uniprot_ac": "X2JDY8", "uniprot_id": "RHGF_DROME", "refseq_ac": "NP_573070", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Rho GTPase-activating protein Graf", "type": "recommended" }, { "name": "CG8948-PA", "type": "synonym" }, { "name": "GRAF ortholog", "type": "synonym" }, { "name": "GTPase regulator associated with FAK, isoform A", "type": "synonym" }, { "name": "GTPase regulator associated with focal adhesion kinase ortholog", "type": "synonym" }, { "name": "GTPase regulator associated with focal adhesion kinase", "type": "synonym" }, { "name": "Graf-PA", "type": "synonym" } ], "gene_names": [ { "name": "Graf", "type": "recommended" }, { "name": "CG8948", "type": "synonym" }, { "name": "D-Graf", "type": "synonym" }, { "name": "Dmel\\CG8948", "type": "synonym" }, { "name": "Graf", "type": "synonym" }, { "name": "Q9VXQ2_DROME", "type": "synonym" }, { "name": "graf", "type": "synonym" } ], "record_id": "X2JDY8-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P29349-4", "uniprot_ac": "P29349", "uniprot_id": "CSW_DROME", "refseq_ac": "NP_477130", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Tyrosine-protein phosphatase corkscrew", "type": "recommended" }, { "name": "3.1.3.48", "type": "synonym" }, { "name": "CG3954-PA", "type": "synonym" }, { "name": "corkscrew, isoform A", "type": "synonym" }, { "name": "corkscrew", "type": "synonym" }, { "name": "csw-PA", "type": "synonym" }, { "name": "enhancer of sevenless 1A", "type": "synonym" } ], "gene_names": [ { "name": "csw", "type": "recommended" }, { "name": "19-106", "type": "synonym" }, { "name": "CG3954", "type": "synonym" }, { "name": "CSW", "type": "synonym" }, { "name": "Csw/Shp2", "type": "synonym" }, { "name": "Csw", "type": "synonym" }, { "name": "Dmel\\CG3954", "type": "synonym" }, { "name": "E(sev)1A", "type": "synonym" }, { "name": "EG:BACN25G24.2", "type": "synonym" }, { "name": "SHP-2", "type": "synonym" }, { "name": "Shp-2", "type": "synonym" }, { "name": "Shp2/csw", "type": "synonym" }, { "name": "anon-WO03040301.207", "type": "synonym" }, { "name": "anon-WO03040301.209", "type": "synonym" }, { "name": "anon-WO03040301.219", "type": "synonym" }, { "name": "csw/SHP-2", "type": "synonym" }, { "name": "csw", "type": "synonym" }, { "name": "l(1)2Db", "type": "synonym" }, { "name": "l(1)2Dd", "type": "synonym" }, { "name": "l(1)G0170", "type": "synonym" }, { "name": "l(1)GA114", "type": "synonym" }, { "name": "l(1)csw", "type": "synonym" } ], "record_id": "P29349-4", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "Q9VBJ2-1", "uniprot_ac": "Q9VBJ2", "uniprot_id": "Q9VBJ2_DROME", "refseq_ac": "NP_733132", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG8318-PB", "type": "synonym" }, { "name": "Neurofibromatosis-1", "type": "synonym" }, { "name": "Neurofibromin 1, isoform B", "type": "synonym" }, { "name": "Nf1-PB", "type": "synonym" }, { "name": "neurofibramatosis-1", "type": "synonym" }, { "name": "neurofibromatosis 1", "type": "synonym" }, { "name": "neurofibromatosis factor 1", "type": "synonym" }, { "name": "neurofibromatosis type 1", "type": "synonym" }, { "name": "neurofibromin 1, isoform B", "type": "synonym" }, { "name": "neurofibromin", "type": "synonym" } ], "gene_names": [ { "name": "Nf1", "type": "recommended" }, { "name": "CG8318", "type": "synonym" }, { "name": "Dmel\\CG8318", "type": "synonym" }, { "name": "Dmel_CG8318", "type": "synonym" }, { "name": "FBpp0084326", "type": "synonym" }, { "name": "NF-1", "type": "synonym" }, { "name": "NF1", "type": "synonym" }, { "name": "Nf-1", "type": "synonym" }, { "name": "Nf1", "type": "synonym" }, { "name": "dNF1", "type": "synonym" }, { "name": "dNf1", "type": "synonym" }, { "name": "nf1", "type": "synonym" } ], "record_id": "Q9VBJ2-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P08646-1", "uniprot_ac": "P08646", "uniprot_id": "RAS1_DROME", "refseq_ac": "NP_476699", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Ras-like protein 1", "type": "recommended" }, { "name": "3.6.5.2", "type": "synonym" }, { "name": "CG9375-PA", "type": "synonym" }, { "name": "Dmras85D", "type": "synonym" }, { "name": "Dras1", "type": "synonym" }, { "name": "Ras GTPase", "type": "synonym" }, { "name": "Ras oncogene at 85B", "type": "synonym" }, { "name": "Ras oncogene at 85D", "type": "synonym" }, { "name": "Ras1", "type": "synonym" }, { "name": "Ras85D-PA", "type": "synonym" }, { "name": "enhancer of faf", "type": "synonym" } ], "gene_names": [ { "name": "Ras85D", "type": "recommended" }, { "name": "C-ras1", "type": "synonym" }, { "name": "CG9375", "type": "synonym" }, { "name": "D-Ras1", "type": "synonym" }, { "name": "D-Ras", "type": "synonym" }, { "name": "D-ras-1", "type": "synonym" }, { "name": "D-ras1", "type": "synonym" }, { "name": "DRAS1", "type": "synonym" }, { "name": "DRas85D/Ras", "type": "synonym" }, { "name": "DRas", "type": "synonym" }, { "name": "Dm Ras1", "type": "synonym" }, { "name": "Dmel\\CG9375", "type": "synonym" }, { "name": "Dmras85D", "type": "synonym" }, { "name": "Dras1", "type": "synonym" }, { "name": "Dras85D", "type": "synonym" }, { "name": "Dras", "type": "synonym" }, { "name": "E(faf)", "type": "synonym" }, { "name": "E(sev)3C", "type": "synonym" }, { "name": "EC3-3", "type": "synonym" }, { "name": "EK3-4", "type": "synonym" }, { "name": "P08646", "type": "synonym" }, { "name": "RAS1", "type": "synonym" }, { "name": "RAS85D", "type": "synonym" }, { "name": "RAS", "type": "synonym" }, { "name": "RTK", "type": "synonym" }, { "name": "Ras 85D", "type": "synonym" }, { "name": "Ras-1", "type": "synonym" }, { "name": "Ras.85D", "type": "synonym" }, { "name": "Ras1/RAs85D", "type": "synonym" }, { "name": "Ras185D", "type": "synonym" }, { "name": "Ras1", "type": "synonym" }, { "name": "Ras85DNt", "type": "synonym" }, { "name": "Ras85D", "type": "synonym" }, { "name": "Ras85d", "type": "synonym" }, { "name": "Ras85", "type": "synonym" }, { "name": "RasI", "type": "synonym" }, { "name": "RasV12", "type": "synonym" }, { "name": "Ras[V12]", "type": "synonym" }, { "name": "Rasv12", "type": "synonym" }, { "name": "Ras", "type": "synonym" }, { "name": "S35097", "type": "synonym" }, { "name": "Su(tor)3-2", "type": "synonym" }, { "name": "dRAS1", "type": "synonym" }, { "name": "dRas1", "type": "synonym" }, { "name": "dRas85D", "type": "synonym" }, { "name": "dRas", "type": "synonym" }, { "name": "dras1", "type": "synonym" }, { "name": "fs(3)05703", "type": "synonym" }, { "name": "l(3)06677", "type": "synonym" }, { "name": "l(3)s1747", "type": "synonym" }, { "name": "p21[Ras1]", "type": "synonym" }, { "name": "ras 1", "type": "synonym" }, { "name": "ras1", "type": "synonym" }, { "name": "ras85B", "type": "synonym" }, { "name": "ras85D", "type": "synonym" }, { "name": "ras[V12]", "type": "synonym" }, { "name": "ras", "type": "synonym" } ], "record_id": "P08646-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "Q9P2D7-4", "uniprot_ac": "Q9P2D7", "uniprot_id": "DYH1_HUMAN", "refseq_ac": "NP_056327", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dynein axonemal heavy chain 1", "type": "recommended" }, { "name": "Axonemal beta dynein heavy chain 1", "type": "synonym" }, { "name": "Ciliary dynein heavy chain 1", "type": "synonym" }, { "name": "HSRF-1", "type": "synonym" }, { "name": "Heat shock regulated protein 1", "type": "synonym" }, { "name": "axonemal beta dynein heavy chain 1", "type": "synonym" }, { "name": "ciliary dynein heavy chain 1", "type": "synonym" }, { "name": "dynein axonemal heavy chain 1", "type": "synonym" }, { "name": "dynein heavy chain 1, axonemal", "type": "synonym" }, { "name": "dynein, axonemal, heavy polypeptide 1", "type": "synonym" }, { "name": "hDHC7", "type": "synonym" }, { "name": "heat shock regulated protein 1", "type": "synonym" }, { "name": "testicular tissue protein Li 60", "type": "synonym" } ], "gene_names": [ { "name": "DNAH1", "type": "recommended" }, { "name": "CILD37", "type": "synonym" }, { "name": "DHC7", "type": "synonym" }, { "name": "DNAH1", "type": "synonym" }, { "name": "DNAHC1", "type": "synonym" }, { "name": "HDHC7", "type": "synonym" }, { "name": "HL-11", "type": "synonym" }, { "name": "HL11", "type": "synonym" }, { "name": "HSRF-1", "type": "synonym" }, { "name": "KIAA1410", "type": "synonym" }, { "name": "SPGF18", "type": "synonym" }, { "name": "XLHSRF-1", "type": "synonym" } ], "record_id": "Q9P2D7-4", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P84090-1", "uniprot_ac": "P84090", "uniprot_id": "ERH_HUMAN", "refseq_ac": "NP_004441", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Enhancer of rudimentary homolog", "type": "recommended" }, { "name": "enhancer of rudimentary homolog", "type": "synonym" } ], "gene_names": [ { "name": "ERH", "type": "recommended" }, { "name": "DROER", "type": "synonym" }, { "name": "ERH", "type": "synonym" } ], "record_id": "P84090-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "Q9HBW0-1", "uniprot_ac": "Q9HBW0", "uniprot_id": "LPAR2_HUMAN", "refseq_ac": "NP_001382589", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Lysophosphatidic acid receptor 2", "type": "recommended" }, { "name": "G protein-coupled receptor", "type": "synonym" }, { "name": "LPA receptor 2", "type": "synonym" }, { "name": "LPA receptor EDG4", "type": "synonym" }, { "name": "LPA-2", "type": "synonym" }, { "name": "Lysophosphatidic acid receptor Edg-4", "type": "synonym" }, { "name": "endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4", "type": "synonym" }, { "name": "lysophosphatidic acid receptor 2", "type": "synonym" }, { "name": "lysophosphatidic acid receptor EDG4", "type": "synonym" }, { "name": "lysophosphatidic acid receptor Edg-4", "type": "synonym" } ], "gene_names": [ { "name": "LPAR2", "type": "recommended" }, { "name": "EDG-4", "type": "synonym" }, { "name": "EDG4", "type": "synonym" }, { "name": "LPA-2", "type": "synonym" }, { "name": "LPA2", "type": "synonym" }, { "name": "LPAR2", "type": "synonym" } ], "record_id": "Q9HBW0-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "Q9ULA0-1", "uniprot_ac": "Q9ULA0", "uniprot_id": "DNPEP_HUMAN", "refseq_ac": "NP_001306049", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Aspartyl aminopeptidase", "type": "recommended" }, { "name": "3.4.11.21", "type": "synonym" }, { "name": "aspartyl aminopeptidase isoform e", "type": "synonym" } ], "gene_names": [ { "name": "DNPEP", "type": "recommended" }, { "name": "ASPEP", "type": "synonym" }, { "name": "DAP", "type": "synonym" }, { "name": "DNPEP", "type": "synonym" } ], "record_id": "Q9ULA0-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "Q02952-1", "uniprot_ac": "Q02952", "uniprot_id": "AKA12_HUMAN", "refseq_ac": "NP_005091", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "A-kinase anchor protein 12", "type": "recommended" }, { "name": "A kinase (PRKA) anchor protein 12", "type": "synonym" }, { "name": "A-kinase anchor protein 12 isoform 1", "type": "synonym" }, { "name": "A-kinase anchor protein 250 kDa", "type": "synonym" }, { "name": "A-kinase anchor protein, 250kDa", "type": "synonym" }, { "name": "AKAP 250", "type": "synonym" }, { "name": "AKAP-12", "type": "synonym" }, { "name": "Gravin", "type": "synonym" }, { "name": "Myasthenia gravis autoantigen", "type": "synonym" }, { "name": "Src-Suppressed C Kinase Substrate", "type": "synonym" }, { "name": "kinase scaffold protein gravin", "type": "synonym" }, { "name": "myasthenia gravis autoantigen gravin", "type": "synonym" } ], "gene_names": [ { "name": "AKAP12", "type": "recommended" }, { "name": "AKAP12", "type": "synonym" }, { "name": "AKAP250", "type": "synonym" }, { "name": "SSeCKS", "type": "synonym" } ], "record_id": "Q02952-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P04141-1", "uniprot_ac": "P04141", "uniprot_id": "CSF2_HUMAN", "refseq_ac": "NP_000749", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Granulocyte-macrophage colony-stimulating factor", "type": "recommended" }, { "name": "CSF", "type": "synonym" }, { "name": "Colony-stimulating factor", "type": "synonym" }, { "name": "GM-CSF", "type": "synonym" }, { "name": "Molgramostin", "type": "synonym" }, { "name": "Sargramostim", "type": "synonym" }, { "name": "colony stimulating factor 2 (granulocyte-macrophage)", "type": "synonym" }, { "name": "granulocyte macrophage-colony stimulating factor", "type": "synonym" }, { "name": "granulocyte-macrophage colony-stimulating factor precursor", "type": "synonym" }, { "name": "molgramostim", "type": "synonym" }, { "name": "molgramostin", "type": "synonym" }, { "name": "sargramostim", "type": "synonym" } ], "gene_names": [ { "name": "CSF2", "type": "recommended" }, { "name": "CSF2", "type": "synonym" }, { "name": "CSF", "type": "synonym" }, { "name": "GMCSF", "type": "synonym" } ], "record_id": "P04141-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P29350-1", "uniprot_ac": "P29350", "uniprot_id": "PTN6_HUMAN", "refseq_ac": "NP_002822", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Tyrosine-protein phosphatase non-receptor type 6", "type": "recommended" }, { "name": "3.1.3.48", "type": "synonym" }, { "name": "Hematopoietic cell protein-tyrosine phosphatase", "type": "synonym" }, { "name": "PTP-1C", "type": "synonym" }, { "name": "Protein-tyrosine phosphatase 1C", "type": "synonym" }, { "name": "Protein-tyrosine phosphatase SHP-1", "type": "synonym" }, { "name": "SH-PTP1", "type": "synonym" }, { "name": "hematopoietic cell phosphatase", "type": "synonym" }, { "name": "hematopoietic cell protein-tyrosine phosphatase", "type": "synonym" }, { "name": "protein-tyrosine phosphatase 1C", "type": "synonym" }, { "name": "protein-tyrosine phosphatase SHP-1", "type": "synonym" }, { "name": "tyrosine-protein phosphatase non-receptor type 6 isoform 1", "type": "synonym" }, { "name": "tyrosine-protein phosphatase non-receptor type 6", "type": "synonym" } ], "gene_names": [ { "name": "PTPN6", "type": "recommended" }, { "name": "HCPH", "type": "synonym" }, { "name": "HCP", "type": "synonym" }, { "name": "HPTP1C", "type": "synonym" }, { "name": "PTP-1C", "type": "synonym" }, { "name": "PTP1C", "type": "synonym" }, { "name": "PTPN6", "type": "synonym" }, { "name": "SH-PTP1", "type": "synonym" }, { "name": "SHP-1L", "type": "synonym" }, { "name": "SHP-1", "type": "synonym" }, { "name": "SHP1", "type": "synonym" } ], "record_id": "P29350-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P36888-1", "uniprot_ac": "P36888", "uniprot_id": "FLT3_HUMAN", "refseq_ac": "NP_004110", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Receptor-type tyrosine-protein kinase FLT3", "type": "recommended" }, { "name": "2.7.10.1", "type": "synonym" }, { "name": "CD135 antigen", "type": "synonym" }, { "name": "FL cytokine receptor", "type": "synonym" }, { "name": "FLK-2", "type": "synonym" }, { "name": "FLT-3", "type": "synonym" }, { "name": "Fetal liver kinase-2", "type": "synonym" }, { "name": "Fms-like tyrosine kinase 3", "type": "synonym" }, { "name": "STK-1", "type": "synonym" }, { "name": "Stem cell tyrosine kinase 1", "type": "synonym" }, { "name": "fetal liver kinase 2", "type": "synonym" }, { "name": "fms related tyrosine kinase 3", "type": "synonym" }, { "name": "fms-like tyrosine kinase 3", "type": "synonym" }, { "name": "growth factor receptor tyrosine kinase type III", "type": "synonym" }, { "name": "receptor-type tyrosine-protein kinase FLT3 1 isoform precursor", "type": "synonym" }, { "name": "receptor-type tyrosine-protein kinase FLT3", "type": "synonym" }, { "name": "stem cell tyrosine kinase 1", "type": "synonym" } ], "gene_names": [ { "name": "FLT3", "type": "recommended" }, { "name": "CD135", "type": "synonym" }, { "name": "FLK-2", "type": "synonym" }, { "name": "FLK2", "type": "synonym" }, { "name": "FLT3", "type": "synonym" }, { "name": "STK1", "type": "synonym" } ], "record_id": "P36888-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P52333-1", "uniprot_ac": "P52333", "uniprot_id": "JAK3_HUMAN", "refseq_ac": "NP_000206", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Tyrosine-protein kinase JAK3", "type": "recommended" }, { "name": "2.7.10.2", "type": "synonym" }, { "name": "JAK-3", "type": "synonym" }, { "name": "Janus kinase 3 (a protein tyrosine kinase, leukocyte)", "type": "synonym" }, { "name": "Janus kinase 3", "type": "synonym" }, { "name": "L-JAK", "type": "synonym" }, { "name": "Leukocyte janus kinase", "type": "synonym" }, { "name": "leukocyte Janus kinase", "type": "synonym" }, { "name": "tyrosine-protein kinase JAK3", "type": "synonym" } ], "gene_names": [ { "name": "JAK3", "type": "recommended" }, { "name": "JAK-3", "type": "synonym" }, { "name": "JAK3_HUMAN", "type": "synonym" }, { "name": "JAK3", "type": "synonym" }, { "name": "JAKL", "type": "synonym" }, { "name": "L-JAK", "type": "synonym" }, { "name": "LJAK", "type": "synonym" } ], "record_id": "P52333-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] }, { "uniprot_canonical_ac": "P22681-1", "uniprot_ac": "P22681", "uniprot_id": "CBL_HUMAN", "refseq_ac": "NP_005179", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "E3 ubiquitin-protein ligase CBL", "type": "recommended" }, { "name": "2.3.2.27", "type": "synonym" }, { "name": "Cas-Br-M (murine) ecotropic retroviral transforming sequence", "type": "synonym" }, { "name": "Casitas B-lineage lymphoma proto-oncogene", "type": "synonym" }, { "name": "Cbl proto-oncogene, E3 ubiquitin protein ligase", "type": "synonym" }, { "name": "E3 ubiquitin-protein ligase CBL", "type": "synonym" }, { "name": "Proto-oncogene c-Cbl", "type": "synonym" }, { "name": "RING finger protein 55", "type": "synonym" }, { "name": "RING-type E3 ubiquitin transferase CBL", "type": "synonym" }, { "name": "Signal transduction protein CBL", "type": "synonym" }, { "name": "casitas B-lineage lymphoma proto-oncogene", "type": "synonym" }, { "name": "fragile site, folic acid type, rare, fra(11)(q23.3)", "type": "synonym" }, { "name": "oncogene CBL2", "type": "synonym" }, { "name": "proto-oncogene c-Cbl", "type": "synonym" }, { "name": "signal transduction protein CBL", "type": "synonym" } ], "gene_names": [ { "name": "CBL", "type": "recommended" }, { "name": "C-CBL", "type": "synonym" }, { "name": "CBL2", "type": "synonym" }, { "name": "CBL", "type": "synonym" }, { "name": "FRA11B", "type": "synonym" }, { "name": "NSLL", "type": "synonym" }, { "name": "RNF55", "type": "synonym" } ], "record_id": "P22681-1", "evidence": [ { "id": "0050458", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050458" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050458" }