{ "disease_id": "DOID:0080690", "recommended_name": { "id": "DOID:0080690", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080690", "name": "RASopathy", "description": "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction." }, "synonyms": [ { "id": "DOID:0080690", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080690", "name": "RAS/mitogen-activated protein kinase syndrome", "description": "" } ], "children": [ { "id": "DOID:0050469", "label": "Costello syndrome", "link_status": true, "children": [] }, { "id": "DOID:0060233", "label": "cardiofaciocutaneous syndrome", "link_status": true, "children": [ { "id": "DOID:0111460", "label": "cardiofaciocutaneous syndrome 1", "link_status": true, "children": [] }, { "id": "DOID:0111461", "label": "cardiofaciocutaneous syndrome 2", "link_status": true, "children": [] }, { "id": "DOID:0111462", "label": "cardiofaciocutaneous syndrome 3", "link_status": true, "children": [] }, { "id": "DOID:0111463", "label": "cardiofaciocutaneous syndrome 4", "link_status": true, "children": [] } ] }, { "id": "DOID:0070483", "label": "Watson syndrome", "link_status": true, "children": [] }, { "id": "DOID:0070484", "label": "Legius syndrome", "link_status": true, "children": [] }, { "id": "DOID:0080691", "label": "Noonan syndrome-like disorder with loose anagen hair", "link_status": true, "children": [ { "id": "DOID:0080692", "label": "Noonan syndrome-like disorder with loose anagen hair 1", "link_status": true, "children": [] }, { "id": "DOID:0080693", "label": "Noonan syndrome-like disorder with loose anagen hair 2", "link_status": true, "children": [] } ] }, { "id": "DOID:0111683", "label": "neurofibromatosis-Noonan syndrome", "link_status": true, "children": [] }, { "id": "DOID:14291", "label": "Noonan syndrome with multiple lentigines", "link_status": true, "children": [ { "id": "DOID:0080548", "label": "Noonan syndrome with multiple lentigines 1", "link_status": true, "children": [] }, { "id": "DOID:0080549", "label": "Noonan syndrome with multiple lentigines 2", "link_status": true, "children": [] }, { "id": "DOID:0080550", "label": "Noonan syndrome with multiple lentigines 3", "link_status": true, "children": [] } ] }, { "id": "DOID:3204", "label": "schwannomatosis", "link_status": true, "children": [ { "id": "DOID:0070480", "label": "schwannomatosis 1", "link_status": true, "children": [] }, { "id": "DOID:0070481", "label": "schwannomatosis 2", "link_status": true, "children": [] }, { "id": "DOID:0111252", "label": "vestibular schwannomatosis", "link_status": true, "children": [] } ] }, { "id": "DOID:3490", "label": "Noonan syndrome", "link_status": true, "children": [ { "id": "DOID:0060578", "label": "Noonan syndrome 1", "link_status": true, "children": [] }, { "id": "DOID:0060580", "label": "Noonan syndrome 2", "link_status": true, "children": [] }, { "id": "DOID:0060581", "label": "Noonan syndrome 3", "link_status": true, "children": [] }, { "id": "DOID:0060582", "label": "Noonan syndrome 4", "link_status": true, "children": [] }, { "id": "DOID:0060583", "label": "Noonan syndrome 5", "link_status": true, "children": [] }, { "id": "DOID:0060584", "label": "Noonan syndrome 6", "link_status": true, "children": [] }, { "id": "DOID:0060585", "label": "Noonan syndrome 7", "link_status": true, "children": [] }, { "id": "DOID:0060586", "label": "Noonan syndrome 8", "link_status": true, "children": [] }, { "id": "DOID:0060587", "label": "Noonan syndrome 9", "link_status": true, "children": [] }, { "id": "DOID:0060588", "label": "Noonan syndrome 10", "link_status": true, "children": [] }, { "id": "DOID:0112161", "label": "Noonan syndrome 13", "link_status": true, "children": [] }, { "id": "DOID:0112169", "label": "Noonan syndrome 11", "link_status": true, "children": [] }, { "id": "DOID:0112170", "label": "Noonan syndrome 12", "link_status": true, "children": [] } ] }, { "id": "DOID:8712", "label": "neurofibromatosis", "link_status": true, "children": [ { "id": "DOID:0111253", "label": "neurofibromatosis 1", "link_status": true, "children": [ { "id": "DOID:0070482", "label": "spinal neurofibromatosis", "link_status": true, "children": [] } ] } ] } ], "id_list": [ "DOID:0080548", "DOID:0111461", "DOID:0060580", "DOID:0111683", "DOID:0060582", "DOID:0060586", "DOID:0080550", "DOID:0112161", "DOID:0111463", "DOID:0080692", "DOID:0111252", "DOID:0070481", "DOID:14291", "DOID:0050469", "DOID:0112170", "DOID:8712", "DOID:0111253", "DOID:0060581", "DOID:0070484", "DOID:0060585", "DOID:0060583", "DOID:0112169", "DOID:0060233", "DOID:0080549", "DOID:3490", "DOID:0060584", "DOID:0070480", "DOID:3204", "DOID:0060587", "DOID:0080690", "DOID:0080693", "DOID:0070482", "DOID:0080691", "DOID:0111462", "DOID:0070483", "DOID:0060588", "DOID:0111460", "DOID:0060578" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0080690", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080690", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q1L8Y7-1", "uniprot_ac": "Q1L8Y7", "uniprot_id": "SHOC2_DANRE", "refseq_ac": "NP_001038251", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Leucine-rich repeat protein SHOC-2", "type": "recommended" }, { "name": "Protein soc-2 homolog", "type": "synonym" }, { "name": "Protein sur-8 homolog", "type": "synonym" }, { "name": "leucine-rich repeat protein SHOC-2", "type": "synonym" }, { "name": "protein soc-2 homolog", "type": "synonym" }, { "name": "protein sur-8 homolog", "type": "synonym" }, { "name": "soc-2 suppressor of clear homolog", "type": "synonym" } ], "gene_names": [ { "name": "shoc2", "type": "recommended" }, { "name": "shoc2", "type": "synonym" }, { 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{ "uniprot_canonical_ac": "F1R609-1", "uniprot_ac": "F1R609", "uniprot_id": "F1R609_DANRE", "refseq_ac": "XP_002666628", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Ras-responsive element-binding protein 1", "type": "recommended" }, { "name": "ras-responsive element-binding protein 1 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "rreb1a", "type": "recommended" }, { "name": "rreb1a", "type": "synonym" } ], "record_id": "F1R609-1", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ] }, { "uniprot_canonical_ac": "A0A8N7TAJ7-1", "uniprot_ac": "A0A8N7TAJ7", "uniprot_id": "A0A8N7TAJ7_DANRE", "refseq_ac": "XP_683385", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Ras-responsive element-binding protein 1", "type": "recommended" }, { "name": "ras-responsive element-binding protein 1 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "rreb1b", "type": "recommended" }, { "name": "rreb1b", "type": "synonym" } ], "record_id": "A0A8N7TAJ7-1", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ] }, { "uniprot_canonical_ac": "Q3UH06-1", "uniprot_ac": "Q3UH06", "uniprot_id": "RREB1_MOUSE", "refseq_ac": "NP_001034277", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Ras-responsive element-binding protein 1", "type": "recommended" }, { "name": "RAS-responsive zinc finger transcription factor RREB", "type": "synonym" }, { "name": "RREB-1", "type": "synonym" }, { "name": "ras-responsive element-binding protein 1 isoform 1", "type": "synonym" } ], "gene_names": [ { "name": "Rreb1", "type": "recommended" }, { "name": "1110037N09Rik", "type": "synonym" }, { "name": "B930013M22Rik", "type": "synonym" }, { "name": "Rreb1", "type": "synonym" }, { "name": "sao", "type": "synonym" } ], "record_id": "Q3UH06-1", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ] }, { "uniprot_canonical_ac": "P70426-1", "uniprot_ac": "P70426", "uniprot_id": "RIT1_MOUSE", "refseq_ac": "NP_033095", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "GTP-binding protein Rit1", "type": "recommended" }, { "name": "3.6.5.2", "type": "synonym" }, { "name": "GTP-binding protein Rit1 isoform 1", "type": "synonym" }, { "name": "GTP-binding protein Rit1", "type": "synonym" }, { "name": "RAS-like protein expressed in many tissues", "type": "synonym" }, { "name": "Ras-like protein expressed in many tissues", "type": "synonym" }, { "name": "Ras-like without CAAX protein 1", "type": "synonym" }, { "name": "ras-like without CAAX protein 1", "type": "synonym" } ], "gene_names": [ { "name": "Rit1", "type": "recommended" }, { "name": "RIBB", "type": "synonym" }, { "name": "ROC1", "type": "synonym" }, { "name": "Rit1", "type": "synonym" }, { "name": "Rit", "type": "synonym" } ], "record_id": "P70426-1", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ] }, { "uniprot_canonical_ac": "P08556-1", "uniprot_ac": "P08556", "uniprot_id": "RASN_MOUSE", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "GTPase NRas", "type": "recommended" }, { "name": "3.6.5.2", "type": "synonym" }, { "name": "Transforming protein N-Ras", "type": "synonym" } ], "gene_names": [ { "name": "Nras", "type": "recommended" } ], "record_id": "P08556-1", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ] }, { "uniprot_canonical_ac": "Q61411-1", "uniprot_ac": "Q61411", "uniprot_id": "RASH_MOUSE", "refseq_ac": "NP_001123915", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "GTPase HRas", "type": "recommended" }, { "name": "3.6.5.2", "type": "synonym" }, { "name": "GTPase HRas isoform 1", "type": "synonym" }, { "name": "GTPase HRas", "type": "synonym" }, { "name": "H-Ras-1", "type": "synonym" }, { "name": "H-ras 1 protein", "type": "synonym" }, { "name": "Harvey rat sarcoma virus oncogene 1", "type": "synonym" }, { "name": "Transforming protein p21", "type": "synonym" }, { "name": "c-H-ras", "type": "synonym" }, { "name": "c-Ha-ras p21 protein", "type": "synonym" }, { "name": "c-Ha-ras transgene", "type": "synonym" }, { "name": "p21ras", "type": "synonym" }, { "name": "transforming protein P21", "type": "synonym" } ], "gene_names": [ { "name": "Hras", "type": "recommended" }, { "name": "H-ras", "type": "synonym" }, { "name": "Ha-ras", "type": "synonym" }, { "name": "Harvey-ras", "type": "synonym" }, { "name": "Hras-1", "type": "synonym" }, { "name": "Hras1", "type": "synonym" }, { "name": "Hras", "type": "synonym" }, { "name": "Kras2", "type": "synonym" }, { "name": "c-H-ras", "type": "synonym" }, { "name": "c-Ha-ras", "type": "synonym" }, { "name": "c-rasHa", "type": "synonym" }, { "name": "ras", "type": "synonym" } ], "record_id": "Q61411-1", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ] }, { "uniprot_canonical_ac": "P31938-1", "uniprot_ac": "P31938", "uniprot_id": "MP2K1_MOUSE", "refseq_ac": "NP_032953", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dual specificity mitogen-activated protein kinase kinase 1", "type": "recommended" }, { "name": "2.7.12.2", "type": "synonym" }, { "name": "ERK activator kinase 1", "type": "synonym" }, { "name": "MAP kinase kinase 1", "type": "synonym" }, { "name": "MAPK/ERK kinase 1", "type": "synonym" }, { "name": "MAPKK 1", "type": "synonym" }, { "name": "MEK 1", "type": "synonym" }, { "name": "dual specificity mitogen-activated protein kinase kinase 1 isoform 1", "type": "synonym" }, { "name": "dual specificity mitogen-activated protein kinase kinase 1", "type": "synonym" }, { "name": "protein kinase, mitogen activated, kinase 1, p45", "type": "synonym" } ], "gene_names": [ { "name": "Map2k1", "type": "recommended" }, { "name": "MAPKK1", "type": "synonym" }, { "name": "MEKK1", "type": "synonym" }, { "name": "Map2k1", "type": "synonym" }, { "name": "Mek1", "type": "synonym" }, { "name": "Prkmk1", "type": "synonym" } ], "record_id": "P31938-1", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ] }, { "uniprot_canonical_ac": "Q63932-1", "uniprot_ac": "Q63932", "uniprot_id": "MP2K2_MOUSE", "refseq_ac": "NP_075627", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dual specificity mitogen-activated protein kinase kinase 2", "type": "recommended" }, { "name": "2.7.12.2", "type": "synonym" }, { "name": "ERK activator kinase 2", "type": "synonym" }, { "name": "MAP kinase kinase 2", "type": "synonym" }, { "name": "MAP kinase/Erk kinase", "type": "synonym" }, { "name": "MAPK/ERK kinase 2", "type": "synonym" }, { "name": "MAPKK 2", "type": "synonym" }, { "name": "MEK 2", "type": "synonym" }, { "name": "dual specificity mitogen-activated protein kinase kinase 2 isoform 1", "type": "synonym" }, { "name": "dual specificity mitogen-activated protein kinase kinase 2", "type": "synonym" }, { "name": "protein kinase, mitogen activated, kinase 2, p45", "type": "synonym" } ], "gene_names": [ { "name": "Map2k2", "type": "recommended" }, { "name": "MEK2", "type": "synonym" }, { "name": "MK2", "type": "synonym" }, { "name": "Map2k2", "type": "synonym" }, { "name": "Mek2", "type": "synonym" }, { "name": "Mkk2", "type": "synonym" }, { "name": "Prkmk2", "type": "synonym" } ], "record_id": "Q63932-1", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ] }, { "uniprot_canonical_ac": "P10833-1", "uniprot_ac": "P10833", "uniprot_id": "RRAS_MOUSE", "refseq_ac": "NP_033127", "glycoprotein": 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"glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Ras-related protein R-Ras2", "type": "recommended" }, { "name": "3.6.5.2", "type": "synonym" }, { "name": "ras-related protein R-Ras2", "type": "synonym" }, { "name": "related RAS viral (r-ras) oncogene 2", "type": "synonym" }, { "name": "related RAS viral (r-ras) oncogene homolog 2", "type": "synonym" } ], "gene_names": [ { "name": "Rras2", "type": "recommended" }, { "name": "2610016H24Rik", "type": "synonym" }, { "name": "Rras2", "type": "synonym" }, { "name": "TC21", "type": "synonym" } ], "record_id": "P62071-1", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ] }, { "uniprot_canonical_ac": "P32883-1", "uniprot_ac": "P32883", "uniprot_id": "RASK_MOUSE", "refseq_ac": "NP_067259", "glycoprotein": "yes", "species": [ 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mitogen-activated protein kinase kinase 2", "type": "synonym" } ], "gene_names": [ { "name": "Map2k2", "type": "recommended" }, { "name": "Map2k2", "type": "synonym" }, { "name": "Mek2", "type": "synonym" }, { "name": "Mkk2", "type": "synonym" }, { "name": "Prkmk2", "type": "synonym" } ], "record_id": "P36506-1", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ] }, { "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 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"name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Ras-responsive element-binding protein 1", "type": "recommended" }, { "name": "ras-responsive element-binding protein 1 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "Rreb1", "type": "recommended" }, { "name": "Rreb1", "type": "synonym" } ], "record_id": "A0A0G2K4K0-1", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ] }, { "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", 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"name": "Dsor1-PB", "type": "synonym" }, { "name": "MAPK kinase", "type": "synonym" }, { "name": "MAPKK", "type": "synonym" }, { "name": "Map kinase kinase", "type": "synonym" }, { "name": "dSor1", "type": "synonym" }, { "name": "downstream of Raf1", "type": "synonym" }, { "name": "downstream of raf1, isoform B", "type": "synonym" }, { "name": "downstream suppressor of Raf 1", "type": "synonym" }, { "name": "drosophila MEK", "type": "synonym" }, { "name": "mitogen-activated protein kinase kinase", "type": "synonym" } ], "gene_names": [ { "name": "Dsor1", "type": "recommended" }, { "name": "2", "type": "synonym" }, { "name": "CG15793", "type": "synonym" }, { "name": "D-MEK/Dsor", "type": "synonym" }, { "name": "D-MEK", "type": "synonym" }, { "name": "D-Mek", "type": "synonym" }, { "name": "D-SOR", "type": "synonym" }, { "name": "D-Sor", "type": "synonym" }, { "name": "D-mek", "type": "synonym" }, { "name": "D-sor-1", "type": "synonym" }, { "name": "D-sor", "type": "synonym" }, { "name": 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"name": "CFC4", "type": "synonym" }, { "name": "MAP2K2", "type": "synonym" }, { "name": "MAPKK2", "type": "synonym" }, { "name": "MEK2", "type": "synonym" }, { "name": "MKK2", "type": "synonym" }, { "name": "PRKMK2", "type": "synonym" } ], "record_id": "P36507-1", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ] }, { "uniprot_canonical_ac": "Q9UQ13-1", "uniprot_ac": "Q9UQ13", "uniprot_id": "SHOC2_HUMAN", "refseq_ac": "NP_001255968", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Leucine-rich repeat protein SHOC-2", "type": "recommended" }, { "name": "Protein soc-2 homolog", "type": "synonym" }, { "name": "Protein sur-8 homolog", "type": "synonym" }, { "name": "leucine-rich repeat protein SHOC-2 isoform 2", "type": "synonym" }, { "name": "soc-2 suppressor of clear 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"name": "RREB-1", "type": "synonym" }, { "name": "Raf-responsive zinc finger protein LZ321", "type": "synonym" }, { "name": "Zep-1", "type": "synonym" }, { "name": "Zinc finger motif enhancer-binding protein 1", "type": "synonym" }, { "name": "finger protein in nuclear bodies", "type": "synonym" }, { "name": "hindsight homolog", "type": "synonym" }, { "name": "raf-responsive zinc finger protein LZ321", "type": "synonym" }, { "name": "ras-responsive element-binding protein 1 isoform 2", "type": "synonym" }, { "name": "zinc finger motif enhancer-binding protein 1", "type": "synonym" } ], "gene_names": [ { "name": "RREB1", "type": "recommended" }, { "name": "FINB", "type": "synonym" }, { "name": "HNT", "type": "synonym" }, { "name": "LZ321", "type": "synonym" }, { "name": "RREB-1", "type": "synonym" }, { "name": "RREB1", "type": "synonym" }, { "name": "Zep-1", "type": "synonym" } ], "record_id": "Q92766-1", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ] }, { "uniprot_canonical_ac": "Q92963-1", "uniprot_ac": "Q92963", "uniprot_id": "RIT1_HUMAN", "refseq_ac": "NP_001243749", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "GTP-binding protein Rit1", "type": "recommended" }, { "name": "3.6.5.2", "type": "synonym" }, { "name": "GTP-binding protein Rit1 isoform 3", "type": "synonym" }, { "name": "GTP-binding protein Rit1", "type": "synonym" }, { "name": "GTP-binding protein Roc1", "type": "synonym" }, { "name": "Ras-like protein expressed in many tissues", "type": "synonym" }, { "name": "Ras-like without CAAX protein 1", "type": "synonym" }, { "name": "Ric-like, expressed in many tissues", "type": "synonym" }, { "name": "ras-like protein expressed in many tissues", "type": "synonym" }, { "name": "ras-like without CAAX protein 1", "type": "synonym" } ], "gene_names": [ { "name": "RIT1", "type": "recommended" }, { "name": "NS8", "type": "synonym" }, { "name": "RIBB", "type": "synonym" }, { "name": "RIT1", "type": "synonym" }, { "name": "RIT", "type": "synonym" }, { "name": "ROC1", "type": "synonym" } ], "record_id": "Q92963-1", "evidence": [ { "id": "0080690", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080690" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0080690" }