{ "disease_id": "DOID:0050338", "recommended_name": { "id": "DOID:0050338", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050338", "name": "primary bacterial infectious disease", "description": "A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread." }, "synonyms": [], "children": [ { "id": "DOID:0050456", "label": "Buruli ulcer disease", "link_status": true, "children": [] }, { "id": "DOID:0060859", "label": "salmonellosis", "link_status": true, "children": [] }, { "id": "DOID:1024", "label": "leprosy", "link_status": true, "children": [ { "id": "DOID:1025", "label": "tuberculoid leprosy", "link_status": true, "children": [] }, { "id": "DOID:10887", "label": "lepromatous leprosy", "link_status": true, "children": [] } ] }, { "id": "DOID:10458", "label": "legionellosis", "link_status": false, "children": [ { "id": "DOID:10457", "label": "Legionnaires' disease", "link_status": true, "children": [] } ] }, { "id": "DOID:11077", "label": "brucellosis", "link_status": true, "children": [] }, { "id": "DOID:11100", "label": "Q fever", "link_status": true, "children": [] }, { "id": "DOID:11104", "label": "spotted fever", "link_status": false, "children": [ { "id": "DOID:14095", "label": "boutonneuse fever", "link_status": true, "children": [] } ] }, { "id": "DOID:11336", "label": "rhinoscleroma", "link_status": true, "children": [] }, { "id": "DOID:11573", "label": "listeriosis", "link_status": true, "children": [] }, { "id": "DOID:11729", "label": "Lyme disease", "link_status": true, "children": [] }, { "id": "DOID:13258", "label": "typhoid fever", "link_status": true, "children": [] }, { "id": "DOID:1498", "label": "cholera", "link_status": true, "children": [] }, { "id": "DOID:2297", "label": "leptospirosis", "link_status": true, "children": [] }, { "id": "DOID:2755", "label": "Mycobacterium avium complex disease", "link_status": true, "children": [] }, { "id": "DOID:3482", "label": "plague", "link_status": true, "children": [] }, { "id": "DOID:399", "label": "tuberculosis", "link_status": true, "children": [ { "id": "DOID:0050598", "label": "extrapulmonary tuberculosis", "link_status": true, "children": [ { "id": "DOID:106", "label": "pleural tuberculosis", "link_status": true, "children": [] }, { "id": "DOID:2149", "label": "urogenital tuberculosis", "link_status": false, "children": [ { "id": "DOID:9733", "label": "renal tuberculosis", "link_status": true, "children": [] } ] } ] }, { "id": "DOID:0070344", "label": "ocular tuberculosis", "link_status": true, "children": [] }, { "id": "DOID:2957", "label": "pulmonary tuberculosis", "link_status": true, "children": [] }, { "id": "DOID:401", "label": "multidrug-resistant tuberculosis", "link_status": true, "children": [] } ] }, { "id": "DOID:4166", "label": "syphilis", "link_status": true, "children": [] }, { "id": "DOID:5052", "label": "melioidosis", "link_status": true, "children": [] }, { "id": "DOID:7427", "label": "anthrax disease", "link_status": true, "children": [] } ], "id_list": [ "DOID:10887", "DOID:0050456", "DOID:11573", "DOID:10457", "DOID:9733", "DOID:2755", "DOID:3482", "DOID:1498", "DOID:1025", "DOID:10458", "DOID:399", "DOID:4166", "DOID:106", "DOID:11077", "DOID:2957", "DOID:11100", "DOID:0050598", "DOID:13258", "DOID:7427", "DOID:11104", "DOID:0060859", "DOID:2149", "DOID:0050338", "DOID:11336", "DOID:401", "DOID:14095", "DOID:5052", "DOID:11729", "DOID:1024", "DOID:2297", "DOID:0070344" ], "unlinked_id_list": [ "DOID:2149", "DOID:11104", "DOID:10458" ], "crossref": [ { "id": "DOID:0050338", "database": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0050338", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "Q92008-1", "uniprot_ac": "Q92008", "uniprot_id": "SHH_DANRE", "refseq_ac": "NP_571138", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Sonic hedgehog protein", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "SHHA", "type": "synonym" }, { "name": "Shh N-terminal processed signaling domains", "type": "synonym" }, { "name": "Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains", "type": "synonym" }, { "name": "ShhNC", "type": "synonym" }, { "name": "ShhNp", "type": "synonym" }, { "name": "ShhN", "type": "synonym" }, { "name": "Sonic hedgehog protein N-product", "type": "synonym" }, { "name": "VHH-1", "type": "synonym" }, { "name": "shh unprocessed N-terminal signaling and C-terminal autoprocessing domains", "type": "synonym" }, { "name": "sonic hedgehog a", "type": "synonym" }, { "name": "sonic hedgehog protein A", "type": "synonym" }, { "name": "sonic hedgehog protein precursor", "type": "synonym" }, { "name": "sonic-you", "type": "synonym" } ], "gene_names": [ { "name": "shha", "type": "recommended" }, { "name": "ShhNC", "type": "synonym" }, { "name": "fc83d08", "type": "synonym" }, { "name": "shha", "type": "synonym" }, { "name": "shh", "type": "synonym" }, { "name": "syu", "type": "synonym" }, { "name": "vhh-1", "type": "synonym" }, { "name": "vhh1", "type": "synonym" }, { "name": "wu:fc83d08", "type": "synonym" } ], "record_id": "Q92008-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "A0AC58IYT3-1", "uniprot_ac": "A0AC58IYT3", "uniprot_id": "A0AC58IYT3_DANRE", "refseq_ac": "XP_073799394", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "NAD(P)H oxidase (H2O2-forming)", "type": "recommended" }, { "name": "1.6.3.1", "type": "synonym" }, { "name": "dual oxidase 1 isoform X1", "type": "synonym" } ], "gene_names": [ { "name": "duox", "type": "recommended" }, { "name": "duox", "type": "synonym" } ], "record_id": "A0AC58IYT3-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q90419-1", "uniprot_ac": "Q90419", "uniprot_id": "TWHH_DANRE", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Tiggy-winkle hedgehog protein", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "SHHB", "type": "synonym" }, { "name": "Shh N-terminal processed signaling domains", "type": "synonym" }, { "name": "ShhNp", "type": "synonym" }, { "name": "ShhN", "type": "synonym" }, { "name": "Sonic hedgehog protein B", "type": "synonym" }, { "name": "Sonic hedgehog protein N-product", "type": "synonym" }, { "name": "TWHH", "type": "synonym" } ], "gene_names": [ { "name": "shhb", "type": "recommended" }, { "name": "twhh", "type": "synonym" } ], "record_id": "Q90419-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q98862-1", "uniprot_ac": "Q98862", "uniprot_id": "IHH_DANRE", "refseq_ac": "NP_571163", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Indian hedgehog B protein", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "EHH", "type": "synonym" }, { "name": "Echidna hedgehog protein", "type": "synonym" }, { "name": "IHHB", "type": "synonym" }, { "name": "Indian hedgehog homolog b", "type": "synonym" }, { "name": "echidna hedgehog protein", "type": "synonym" }, { "name": "hh[b]", "type": "synonym" }, { "name": "hhb", "type": "synonym" }, { "name": "indian hedgehog B protein precursor", "type": "synonym" }, { "name": "indian hedgehog B protein", "type": "synonym" } ], "gene_names": [ { "name": "ihhb", "type": "recommended" }, { "name": "IHH", "type": "synonym" }, { "name": "ehh", "type": "synonym" }, { "name": "ihhb", "type": "synonym" }, { "name": "ihh", "type": "synonym" }, { "name": "zgc:113262", "type": "synonym" } ], "record_id": "Q98862-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "P56726-1", "uniprot_ac": "P56726", "uniprot_id": "SMO_MOUSE", "refseq_ac": "NP_795970", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein smoothened", "type": "recommended" }, { "name": "bent body", "type": "synonym" }, { "name": "protein smoothened precursor", "type": "synonym" }, { "name": "protein smoothened", "type": "synonym" }, { "name": "smoothened homolog", "type": "synonym" } ], "gene_names": [ { "name": "Smo", "type": "recommended" }, { "name": "E130215L21Rik", "type": "synonym" }, { "name": "Smoh", "type": "synonym" }, { "name": "Smo", "type": "synonym" }, { "name": "bnb", "type": "synonym" }, { "name": "smoothened", "type": "synonym" } ], "record_id": "P56726-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q62226-1", "uniprot_ac": "Q62226", "uniprot_id": "SHH_MOUSE", "refseq_ac": "NP_033196", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Sonic hedgehog protein", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "HHG-1", "type": "synonym" }, { "name": "SHH", "type": "synonym" }, { "name": "Shh N-terminal processed signaling domains", "type": "synonym" }, { "name": "Shh unprocessed N-terminal signaling and C-terminal autoprocfretinaessing domains", "type": "synonym" }, { "name": "ShhNC", "type": "synonym" }, { "name": "ShhNp", "type": "synonym" }, { "name": "Sonic hedgehog protein 19 kDa product", "type": "synonym" }, { "name": "hemimelic extra toes", "type": "synonym" }, { "name": "shh unprocessed N-terminal signaling and C-terminal autoprocessing domains", "type": "synonym" }, { "name": "short digits", "type": "synonym" }, { "name": "sonic hedgehog protein isoform 1 precursor", "type": "synonym" }, { "name": "sonic hedgehog protein", "type": "synonym" } ], "gene_names": [ { "name": "Shh", "type": "recommended" }, { "name": "9530036O11Rik", "type": "synonym" }, { "name": "Dsh", "type": "synonym" }, { "name": "HHG-1", "type": "synonym" }, { "name": "Hhg1", "type": "synonym" }, { "name": "Hxl3", "type": "synonym" }, { "name": "Hx", "type": "synonym" }, { "name": "M100081", "type": "synonym" }, { "name": "ShhNC", "type": "synonym" }, { "name": "Shh", "type": "synonym" } ], "record_id": "Q62226-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q0VGT2-1", "uniprot_ac": "Q0VGT2", "uniprot_id": "GLI2_MOUSE", "refseq_ac": "NP_001074594", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Transcription activator GLI2", "type": "recommended" }, { "name": "Tax helper protein", "type": "synonym" }, { "name": "zinc finger protein GLI2", "type": "synonym" } ], "gene_names": [ { "name": "Gli2", "type": "recommended" }, { "name": "Gli2", "type": "synonym" } ], "record_id": "Q0VGT2-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "A0A494BAW1-1", "uniprot_ac": "A0A494BAW1", "uniprot_id": "A0A494BAW1_MOUSE", "refseq_ac": "NP_001349684", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "NAD(P)H oxidase (H2O2-forming)", "type": "recommended" }, { "name": "1.6.3.1", "type": "synonym" }, { "name": "dual oxidase 2 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Duox2", "type": "recommended" }, { "name": "A430065P05Rik", "type": "synonym" }, { "name": "Duox2", "type": "synonym" }, { "name": "LNOX2", "type": "synonym" }, { "name": "NOXEF2", "type": "synonym" }, { "name": "P138-TOX", "type": "synonym" }, { "name": "THOX2", "type": "synonym" } ], "record_id": "A0A494BAW1-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "P97812-1", "uniprot_ac": "P97812", "uniprot_id": "IHH_MOUSE", "refseq_ac": "NP_034674", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Indian hedgehog protein", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "HHG-2", "type": "synonym" }, { "name": "IHH", "type": "synonym" }, { "name": "indian hedgehog protein isoform 1 preproprotein", "type": "synonym" }, { "name": "indian hedgehog protein", "type": "synonym" } ], "gene_names": [ { "name": "Ihh", "type": "recommended" }, { "name": "HHG-2", "type": "synonym" }, { "name": "Ihh", "type": "synonym" } ], "record_id": "P97812-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "A2AQ92-1", "uniprot_ac": "A2AQ92", "uniprot_id": "DUOX1_MOUSE", "refseq_ac": "NP_001092767", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Dual oxidase 1", "type": "recommended" }, { "name": "1.-.-.-", "type": "synonym" }, { "name": "1.11.1.-", "type": "synonym" }, { "name": "1.6.3.1", "type": "synonym" }, { "name": "dual oxidase 1 precursor", "type": "synonym" }, { "name": "dual oxidase 2", "type": "synonym" } ], "gene_names": [ { "name": "Duox1", "type": "recommended" }, { "name": "9930101G15Rik", "type": "synonym" }, { "name": "Duox1", "type": "synonym" }, { "name": "Duox2", "type": "synonym" }, { "name": "LNOX1", "type": "synonym" }, { "name": "LNOX2", "type": "synonym" }, { "name": "NOXEF1", "type": "synonym" }, { "name": "NOXEF2", "type": "synonym" }, { "name": "P138-TOX", "type": "synonym" }, { "name": "THOX1", "type": "synonym" }, { "name": "THOX2", "type": "synonym" } ], "record_id": "A2AQ92-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q61488-1", "uniprot_ac": "Q61488", "uniprot_id": "DHH_MOUSE", "refseq_ac": "NP_031883", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Desert hedgehog protein", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "DHH", "type": "synonym" }, { "name": "HHG-3", "type": "synonym" }, { "name": "desert hedgehog protein preproprotein", "type": "synonym" }, { "name": "desert hedgehog protein", "type": "synonym" } ], "gene_names": [ { "name": "Dhh", "type": "recommended" }, { "name": "Dhh", "type": "synonym" } ], "record_id": "Q61488-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q61602-1", "uniprot_ac": "Q61602", "uniprot_id": "GLI3_MOUSE", "refseq_ac": "NP_032156", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Transcription activator GLI3", "type": "recommended" }, { "name": "GLI3 C-terminally truncated form", "type": "synonym" }, { "name": "GLI3 form of 190 kDa", "type": "synonym" }, { "name": "GLI3 form of 83 kDa", "type": "synonym" }, { "name": "GLI3 full length protein", "type": "synonym" }, { "name": "GLI3 full-length protein", "type": "synonym" }, { "name": "GLI3-190", "type": "synonym" }, { "name": "GLI3-83", "type": "synonym" }, { "name": "GLI3FL", "type": "synonym" }, { "name": "anterior digit pattern deformity", "type": "synonym" }, { "name": "brachyphalangy", "type": "synonym" }, { "name": "extra toes", "type": "synonym" }, { "name": "polydactyly Nagoya", "type": "synonym" }, { "name": "transcriptional activator GLI3", "type": "synonym" }, { "name": "zinc finger protein GLI3", "type": "synonym" } ], "gene_names": [ { "name": "Gli3", "type": "recommended" }, { "name": "Bph", "type": "synonym" }, { "name": "GLI3-190", "type": "synonym" }, { "name": "GLI3FL", "type": "synonym" }, { "name": "Gli3", "type": "synonym" }, { "name": "Pdn", "type": "synonym" }, { "name": "Xt", "type": "synonym" }, { "name": "add", "type": "synonym" } ], "record_id": "Q61602-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "P47806-1", "uniprot_ac": "P47806", "uniprot_id": "GLI1_MOUSE", "refseq_ac": "NP_034426", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Transcription activator GLI1", "type": "recommended" }, { "name": "Glioma-associated oncogene homolog", "type": "synonym" }, { "name": "glioma-associated oncogene homolog", "type": "synonym" }, { "name": "zinc finger protein 5", "type": "synonym" }, { "name": "zinc finger protein GLI1", "type": "synonym" } ], "gene_names": [ { "name": "Gli1", "type": "recommended" }, { "name": "Gli1", "type": "synonym" }, { "name": "Gli", "type": "synonym" }, { "name": "Zfp-5", "type": "synonym" }, { "name": "Zfp5", "type": "synonym" } ], "record_id": "P47806-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q08908-1", "uniprot_ac": "Q08908", "uniprot_id": "FRE5_YEAST", "refseq_ac": "NP_015029", "glycoprotein": "yes", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Ferric reductase transmembrane component 5", "type": "recommended" }, { "name": "1.16.1.9", "type": "synonym" }, { "name": "Ferric-chelate reductase 5", "type": "synonym" }, { "name": "putative ferric-chelate reductase", "type": "synonym" } ], "gene_names": [ { "name": "FRE5", "type": "recommended" }, { "name": "FRE5", "type": "synonym" }, { "name": "O6765", "type": "synonym" } ], "record_id": "Q08908-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q12209-1", "uniprot_ac": "Q12209", "uniprot_id": "FRE8_YEAST", "refseq_ac": "NP_013148", "glycoprotein": "yes", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Probable ferric reductase transmembrane component 8", "type": "recommended" }, { "name": "1.16.1.7", "type": "synonym" }, { "name": "Ferric-chelate reductase 8", "type": "synonym" }, { "name": "putative ferric-chelate reductase", "type": "synonym" } ], "gene_names": [ { "name": "FRE8", "type": "recommended" }, { "name": "FRE8", "type": "synonym" }, { "name": "L2114", "type": "synonym" } ], "record_id": "Q12209-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "P53109-1", "uniprot_ac": "P53109", "uniprot_id": "AIM14_YEAST", "refseq_ac": "NP_011355", "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": "Probable metalloreductase AIM14", "type": "recommended" }, { "name": "1.16.1.-", "type": "synonym" }, { "name": "Altered inheritance of mitochondria protein 14", "type": "synonym" }, { "name": "putative metalloreductase", "type": "synonym" } ], "gene_names": [ { "name": "AIM14", "type": "recommended" }, { "name": "AIM14", "type": "synonym" }, { "name": "G1837", "type": "synonym" }, { "name": "YNO1", "type": "synonym" } ], "record_id": "P53109-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "P97698-1", "uniprot_ac": "P97698", "uniprot_id": "SMO_RAT", "refseq_ac": "NP_036939", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Protein smoothened", "type": "recommended" }, { "name": "protein smoothened precursor", "type": "synonym" }, { "name": "protein smoothened", "type": "synonym" }, { "name": "smoothened protein", "type": "synonym" }, { "name": "smoothened, frizzled family receptor", "type": "synonym" } ], "gene_names": [ { "name": "Smo", "type": "recommended" }, { "name": "Smoh", "type": "synonym" }, { "name": "Smo", "type": "synonym" } ], "record_id": "P97698-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "G3V7Y0-1", "uniprot_ac": "G3V7Y0", "uniprot_id": "G3V7Y0_RAT", "refseq_ac": "NP_445819", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Hedgehog protein", "type": "recommended" }, { "name": "desert hedgehog protein precursor", "type": "synonym" } ], "gene_names": [ { "name": "Dhh", "type": "recommended" }, { "name": "Dhh", "type": "synonym" } ], "record_id": "G3V7Y0-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "F1M9H1-1", "uniprot_ac": "F1M9H1", "uniprot_id": "F1M9H1_RAT", "refseq_ac": "NP_536330", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "GLI family zinc finger 3", "type": "synonym" }, { "name": "GLI-Kruppel family member GLI3 (Greig cephalopolysyndactyly syndrome)", "type": "synonym" }, { "name": "transcriptional activator GLI3", "type": "synonym" } ], "gene_names": [ { "name": "Gli3", "type": "recommended" }, { "name": "Gli3", "type": "synonym" } ], "record_id": "F1M9H1-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q63673-1", "uniprot_ac": "Q63673", "uniprot_id": "SHH_RAT", "refseq_ac": "NP_058917", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Sonic hedgehog protein", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "SHH", "type": "synonym" }, { "name": "Shh N-terminal processed signaling domains", "type": "synonym" }, { "name": "Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains", "type": "synonym" }, { "name": "ShhNC", "type": "synonym" }, { "name": "ShhNp", "type": "synonym" }, { "name": "shh unprocessed N-terminal signaling and C-terminal autoprocessing domains", "type": "synonym" }, { "name": "sonic hedgehog homolog", "type": "synonym" }, { "name": "sonic hedgehog protein precursor", "type": "synonym" }, { "name": "sonic hedgehog protein", "type": "synonym" } ], "gene_names": [ { "name": "Shh", "type": "recommended" }, { "name": "ShhNC", "type": "synonym" }, { "name": "Shh", "type": "synonym" }, { "name": "Vhh-1", "type": "synonym" } ], "record_id": "Q63673-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "F1M2B7-1", "uniprot_ac": "F1M2B7", "uniprot_id": "F1M2B7_RAT", "refseq_ac": "NP_001100639", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "GLI family zinc finger 2", "type": "synonym" }, { "name": "GLI-Kruppel family member GLI2", "type": "synonym" }, { "name": "zinc finger protein GLI2", "type": "synonym" } ], "gene_names": [ { "name": "Gli2", "type": "recommended" }, { "name": "Gli2", "type": "synonym" } ], "record_id": "F1M2B7-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q8CIY2-1", "uniprot_ac": "Q8CIY2", "uniprot_id": "DUOX1_RAT", "refseq_ac": "NP_714961", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Dual oxidase 1", "type": "recommended" }, { "name": "1.-.-.-", "type": "synonym" }, { "name": "1.11.1.-", "type": "synonym" }, { "name": "1.6.3.1", "type": "synonym" }, { "name": "dual oxidase 1 precursor", "type": "synonym" } ], "gene_names": [ { "name": "Duox1", "type": "recommended" }, { "name": "Duox1", "type": "synonym" } ], "record_id": "Q8CIY2-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "F1LP42-1", "uniprot_ac": "F1LP42", "uniprot_id": "F1LP42_RAT", "refseq_ac": "NP_445836", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Hedgehog protein", "type": "recommended" }, { "name": "indian hedgehog protein precursor", "type": "synonym" } ], "gene_names": [ { "name": "Ihh", "type": "recommended" }, { "name": "Ihh", "type": "synonym" } ], "record_id": "F1LP42-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "G3V6X8-1", "uniprot_ac": "G3V6X8", "uniprot_id": "G3V6X8_RAT", "refseq_ac": "NP_001178839", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "GLI family zinc finger 1", "type": "synonym" }, { "name": "GLI-Kruppel family member GLI1", "type": "synonym" }, { "name": "zinc finger protein GLI1", "type": "synonym" } ], "gene_names": [ { "name": "Gli1", "type": "recommended" }, { "name": "Gli1", "type": "synonym" }, { "name": "Gli", "type": "synonym" } ], "record_id": "G3V6X8-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q9ES45-1", "uniprot_ac": "Q9ES45", "uniprot_id": "DUOX2_RAT", "refseq_ac": "NP_077055", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Dual oxidase 2", "type": "recommended" }, { "name": "1.-.-.-", "type": "synonym" }, { "name": "1.11.1.-", "type": "synonym" }, { "name": "1.6.3.1", "type": "synonym" }, { "name": "Large NOX 2", "type": "synonym" }, { "name": "Long NOX 2", "type": "synonym" }, { "name": "NADH/NADPH thyroid oxidase THOX2", "type": "synonym" }, { "name": "Thyroid oxidase 2", "type": "synonym" }, { "name": "dual oxidase 2 precursor", "type": "synonym" }, { "name": "large NOX 2", "type": "synonym" }, { "name": "long NOX 2", "type": "synonym" }, { "name": "thyroid oxidase 2", "type": "synonym" } ], "gene_names": [ { "name": "Duox2", "type": "recommended" }, { "name": "Duox2", "type": "synonym" }, { "name": "Lnox2", "type": "synonym" }, { "name": "Thox2", "type": "synonym" } ], "record_id": "Q9ES45-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "P70499-1", "uniprot_ac": "P70499", "uniprot_id": "IFNB_RAT", "refseq_ac": "NP_062000", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Interferon beta", "type": "recommended" }, { "name": "IFN-beta", "type": "synonym" }, { "name": "interferon 1da1", "type": "synonym" }, { "name": "interferon beta 1, fibroblast", "type": "synonym" }, { "name": "interferon beta precursor", "type": "synonym" } ], "gene_names": [ { "name": "Ifnb1", "type": "recommended" }, { "name": "If1da1", "type": "synonym" }, { "name": "Ifnb1", "type": "synonym" }, { "name": "Ifnb", "type": "synonym" } ], "record_id": "P70499-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "P09650-1", "uniprot_ac": "P09650", "uniprot_id": "MCPT1_RAT", "refseq_ac": "NP_001264597", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Mast cell protease 1", "type": "recommended" }, { "name": "3.4.21.39", "type": "synonym" }, { "name": "CLIP protein", "type": "synonym" }, { "name": "Chymase", "type": "synonym" }, { "name": "Chymotrypsin-like protease", "type": "synonym" }, { "name": "Mast cell protease I", "type": "synonym" }, { "name": "chymase", "type": "synonym" }, { "name": "chymotrypsin-like protease", "type": "synonym" }, { "name": "mast cell protease 1 preproprotein", "type": "synonym" }, { "name": "mast cell protease 1", "type": "synonym" }, { "name": "mast cell protease I", "type": "synonym" }, { "name": "protease 1-like", "type": "synonym" }, { "name": "rMCP-1", "type": "synonym" }, { "name": "rMCP-I", "type": "synonym" } ], "gene_names": [ { "name": "Mcpt1", "type": "recommended" }, { "name": "Mcpt1l1", "type": "synonym" }, { "name": "Mcpt1", "type": "synonym" }, { "name": "rMCP-1", "type": "synonym" }, { "name": "rMCP-I", "type": "synonym" } ], "record_id": "P09650-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q02936-1", "uniprot_ac": "Q02936", "uniprot_id": "HH_DROME", "refseq_ac": "NP_001034065", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Protein hedgehog", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "CG4637-PB", "type": "synonym" }, { "name": "PKC", "type": "synonym" }, { "name": "atypical", "type": "synonym" }, { "name": "bar-on-3", "type": "synonym" }, { "name": "hedgehog", "type": "synonym" }, { "name": "hedghog", "type": "synonym" }, { "name": "hh-PB", "type": "synonym" }, { "name": "mirabile", "type": "synonym" }, { "name": "moonrat", "type": "synonym" } ], "gene_names": [ { "name": "hh", "type": "recommended" }, { "name": "CG4637", "type": "synonym" }, { "name": "Dmel\\CG4637", "type": "synonym" }, { "name": "Dmhh", "type": "synonym" }, { "name": "HH", "type": "synonym" }, { "name": "Hg", "type": "synonym" }, { "name": "Hh", "type": "synonym" }, { "name": "Mir", "type": "synonym" }, { "name": "Mrt", "type": "synonym" }, { "name": "anon-WO0134654.19", "type": "synonym" }, { "name": "anon-WO0182946.19", "type": "synonym" }, { "name": "bar-3", "type": "synonym" }, { "name": "bar3", "type": "synonym" }, { "name": "bar", "type": "synonym" }, { "name": "hg", "type": "synonym" }, { "name": "hh", "type": "synonym" }, { "name": "l(3)hh", "type": "synonym" }, { "name": "l(3)neo56", "type": "synonym" }, { "name": "l(3)neo57", "type": "synonym" } ], "record_id": "Q02936-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "P19538-1", "uniprot_ac": "P19538", "uniprot_id": "CI_DROME", "refseq_ac": "NP_524617", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Transcriptional activator cubitus interruptus", "type": "recommended" }, { "name": "CG2125-PA", "type": "synonym" }, { "name": "Transcriptional activator ci", "type": "synonym" }, { "name": "cell", "type": "synonym" }, { "name": "ci C-terminally truncated form", "type": "synonym" }, { "name": "ci form of 155 kDa", "type": "synonym" }, { "name": "ci form of 75 kDa", "type": "synonym" }, { "name": "ci full-length protein", "type": "synonym" }, { "name": "ci-155", "type": "synonym" }, { "name": "ci-75", "type": "synonym" }, { "name": "ci-PA", "type": "synonym" }, { "name": "ciFL", "type": "synonym" }, { "name": "cubitis interruptus", "type": "synonym" }, { "name": "cubitus interruptus, isoform A", "type": "synonym" }, { "name": "cubitus interruptus", "type": "synonym" }, { "name": "cubitus interuptus", "type": "synonym" }, { "name": "cubitus-interruptus-Dominant", "type": "synonym" }, { "name": "cubitus", "type": "synonym" } ], "gene_names": [ { "name": "ci", "type": "recommended" }, { "name": "CG2125", "type": "synonym" }, { "name": "CID", "type": "synonym" }, { "name": "CI", "type": "synonym" }, { "name": "Ce", "type": "synonym" }, { "name": "Ci/GLI", "type": "synonym" }, { "name": "Ci/Gli", "type": "synonym" }, { "name": "Ci155", "type": "synonym" }, { "name": "CiD", "type": "synonym" }, { "name": "Ci[D]", "type": "synonym" }, { "name": "Ci", "type": "synonym" }, { "name": "Dmel\\CG2125", "type": "synonym" }, { "name": "Dmel_CG2125", "type": "synonym" }, { "name": "GLI", "type": "synonym" }, { "name": "Gli", "type": "synonym" }, { "name": "Siah", "type": "synonym" }, { "name": "ci-D", "type": "synonym" }, { "name": "ci155", "type": "synonym" }, { "name": "ciA", "type": "synonym" }, { "name": "ciD", "type": "synonym" }, { "name": "ciR", "type": "synonym" }, { "name": "ci[D]", "type": "synonym" }, { "name": "ci", "type": "synonym" }, { "name": "d Ci", "type": "synonym" }, { "name": "l(4)102ABc", "type": "synonym" }, { "name": "l(4)13", "type": "synonym" }, { "name": "l(4)17", "type": "synonym" } ], "record_id": "P19538-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q9VQH2-1", "uniprot_ac": "Q9VQH2", "uniprot_id": "DUOX_DROME", "refseq_ac": "NP_001259968", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Dual oxidase", "type": "recommended" }, { "name": "1.11.1.-", "type": "synonym" }, { "name": "1.6.3.1", "type": "synonym" }, { "name": "CG3131-PC", "type": "synonym" }, { "name": "Duox-PC", "type": "synonym" }, { "name": "NADPH dual oxidase", "type": "synonym" }, { "name": "curly", "type": "synonym" }, { "name": "dual oxidase, isoform C", "type": "synonym" } ], "gene_names": [ { "name": "Duox", "type": "recommended" }, { "name": "CG3131", "type": "synonym" }, { "name": "Cy", "type": "synonym" }, { "name": "DUOX", "type": "synonym" }, { "name": "Dmel\\CG3131", "type": "synonym" }, { "name": "Dmel_CG3131", "type": "synonym" }, { "name": "DuoX", "type": "synonym" }, { "name": "Duox", "type": "synonym" }, { "name": "dDuox", "type": "synonym" }, { "name": "dduox", "type": "synonym" }, { "name": "duOx", "type": "synonym" }, { "name": "duox", "type": "synonym" }, { "name": "l(2)23Bb", "type": "synonym" } ], "record_id": "Q9VQH2-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "P91682-1", "uniprot_ac": "P91682", "uniprot_id": "SMO_DROME", "refseq_ac": "NP_523443", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Protein smoothened", "type": "recommended" }, { "name": "CG11561-PA", "type": "synonym" }, { "name": "SMOH", "type": "synonym" }, { "name": "Smooth", "type": "synonym" }, { "name": "dSMO", "type": "synonym" }, { "name": "smo-PA", "type": "synonym" }, { "name": "smoothened", "type": "synonym" }, { "name": "smoothene", "type": "synonym" } ], "gene_names": [ { "name": "smo", "type": "recommended" }, { "name": "CG11561", "type": "synonym" }, { "name": "Dmel\\CG11561", "type": "synonym" }, { "name": "SMO", "type": "synonym" }, { "name": "Smo", "type": "synonym" }, { "name": "dSmo", "type": "synonym" }, { "name": "smo", "type": "synonym" } ], "record_id": "P91682-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "O60258-1", "uniprot_ac": "O60258", "uniprot_id": "FGF17_HUMAN", "refseq_ac": "NP_001291407", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Fibroblast growth factor 17", "type": "recommended" }, { "name": "FGF-17", "type": "synonym" }, { "name": "fibroblast growth factor 17 isoform 2 precursor", "type": "synonym" } ], "gene_names": [ { "name": "FGF17", "type": "recommended" }, { "name": "FGF-13", "type": "synonym" }, { "name": "FGF-17", "type": "synonym" }, { "name": "FGF17", "type": "synonym" }, { "name": "HH20", "type": "synonym" }, { "name": "PRO187", "type": "synonym" } ], "record_id": "O60258-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q99835-1", "uniprot_ac": "Q99835", "uniprot_id": "SMO_HUMAN", "refseq_ac": "NP_005622", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Protein smoothened", "type": "recommended" }, { "name": "Protein Gx", "type": "synonym" }, { "name": "frizzled family member 11", "type": "synonym" }, { "name": "protein Gx", "type": "synonym" }, { "name": "protein smoothened precursor", "type": "synonym" }, { "name": "protein smoothened", "type": "synonym" }, { "name": "seven transmembrane helix receptor", "type": "synonym" }, { "name": "smoothened homolog", "type": "synonym" }, { "name": "smoothened, frizzled family receptor", "type": "synonym" }, { "name": "smoothened, seven transmembrane spanning receptor", "type": "synonym" } ], "gene_names": [ { "name": "SMO", "type": "recommended" }, { "name": "CRJS", "type": "synonym" }, { "name": "FZD11", "type": "synonym" }, { "name": "Gx", "type": "synonym" }, { "name": "PHLS", "type": "synonym" }, { "name": "SMOH", "type": "synonym" }, { "name": "SMO", "type": "synonym" } ], "record_id": "Q99835-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "P10071-1", "uniprot_ac": "P10071", "uniprot_id": "GLI3_HUMAN", "refseq_ac": "NP_000159", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Transcription activator GLI3", "type": "recommended" }, { "name": "GLI-Kruppel family member GLI3", "type": "synonym" }, { "name": "GLI3 C-terminally truncated form", "type": "synonym" }, { "name": "GLI3 form of 190 kDa", "type": "synonym" }, { "name": "GLI3 form of 83 kDa", "type": "synonym" }, { "name": "GLI3 full-length protein", "type": "synonym" }, { "name": "GLI3-190", "type": "synonym" }, { "name": "GLI3-83", "type": "synonym" }, { "name": "GLI3FL", "type": "synonym" }, { "name": "glioma-associated oncogene family zinc finger 3", "type": "synonym" }, { "name": "oncogene GLI3", "type": "synonym" }, { "name": "transcriptional activator GLI3", "type": "synonym" }, { "name": "zinc finger protein GLI3", "type": "synonym" } ], "gene_names": [ { "name": "GLI3", "type": "recommended" }, { "name": "ACLS", "type": "synonym" }, { "name": "GCPS", "type": "synonym" }, { "name": "GLI3-190", "type": "synonym" }, { "name": "GLI3FL", "type": "synonym" }, { "name": "GLI3", "type": "synonym" }, { "name": "PAP-A", "type": "synonym" }, { "name": "PAPA1", "type": "synonym" }, { "name": "PAPA", "type": "synonym" }, { "name": "PAPB", "type": "synonym" }, { "name": "PHS", "type": "synonym" }, { "name": "PPDIV", "type": "synonym" } ], "record_id": "P10071-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q9NRD8-1", "uniprot_ac": "Q9NRD8", "uniprot_id": "DUOX2_HUMAN", "refseq_ac": "NP_054799", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dual oxidase 2", "type": "recommended" }, { "name": "1.-.-.-", "type": "synonym" }, { "name": "1.11.1.-", "type": "synonym" }, { "name": "1.6.3.1", "type": "synonym" }, { "name": "Large NOX 2", "type": "synonym" }, { "name": "Long NOX 2", "type": "synonym" }, { "name": "NADH/NADPH thyroid oxidase p138-tox", "type": "synonym" }, { "name": "NADPH oxidase/peroxidase DUOX2", "type": "synonym" }, { "name": "NADPH thyroid oxidase 2", "type": "synonym" }, { "name": "Thyroid oxidase 2", "type": "synonym" }, { "name": "dual oxidase 2 isoform 1 precursor", "type": "synonym" }, { "name": "dual oxidase-like domains 2", "type": "synonym" }, { "name": "flavoprotein NADPH oxidase", "type": "synonym" }, { "name": "large NOX 2", "type": "synonym" }, { "name": "long NOX 2", "type": "synonym" }, { "name": "nicotinamide adenine dinucleotide phosphate oxidase", "type": "synonym" }, { "name": "p138 thyroid oxidase", "type": "synonym" } ], "gene_names": [ { "name": "DUOX2", "type": "recommended" }, { "name": "DUOX2", "type": "synonym" }, { "name": "LNOX2", "type": "synonym" }, { "name": "NOXEF2", "type": "synonym" }, { "name": "P138-TOX", "type": "synonym" }, { "name": "TDH6", "type": "synonym" }, { "name": "THOX2", "type": "synonym" } ], "record_id": "Q9NRD8-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q14623-1", "uniprot_ac": "Q14623", "uniprot_id": "IHH_HUMAN", "refseq_ac": "NP_002172", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Indian hedgehog protein", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "HHG-2", "type": "synonym" }, { "name": "IHH", "type": "synonym" }, { "name": "Indian hedgehog homolog", "type": "synonym" }, { "name": "indian hedgehog protein preproprotein", "type": "synonym" }, { "name": "indian hedgehog protein", "type": "synonym" } ], "gene_names": [ { "name": "IHH", "type": "recommended" }, { "name": "BDA1", "type": "synonym" }, { "name": "HHG2", "type": "synonym" }, { "name": "IHH", "type": "synonym" } ], "record_id": "Q14623-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "P08151-1", "uniprot_ac": "P08151", "uniprot_id": "GLI1_HUMAN", "refseq_ac": "NP_001153517", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Transcription activator GLI1", "type": "recommended" }, { "name": "GLI-Kruppel family member GLI1", "type": "synonym" }, { "name": "Glioma-associated oncogene", "type": "synonym" }, { "name": "Oncogene GLI", "type": "synonym" }, { "name": "glioma-associated oncogene 1", "type": "synonym" }, { "name": "glioma-associated oncogene homolog 1 (zinc finger protein)", "type": "synonym" }, { "name": "oncogene GLI", "type": "synonym" }, { "name": "zinc finger protein GLI1 isoform 2", "type": "synonym" } ], "gene_names": [ { "name": "GLI1", "type": "recommended" }, { "name": "GLI1", "type": "synonym" }, { "name": "GLI", "type": "synonym" }, { "name": "PAPA8", "type": "synonym" }, { "name": "PPD1", "type": "synonym" } ], "record_id": "P08151-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "O43323-1", "uniprot_ac": "O43323", "uniprot_id": "DHH_HUMAN", "refseq_ac": "NP_066382", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Desert hedgehog protein", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "DHH", "type": "synonym" }, { "name": "HHG-3", "type": "synonym" }, { "name": "desert hedgehog protein preproprotein", "type": "synonym" }, { "name": "desert hedgehog protein", "type": "synonym" } ], "gene_names": [ { "name": "DHH", "type": "recommended" }, { "name": "DHH", "type": "synonym" }, { "name": "GDMN", "type": "synonym" }, { "name": "GDXYM", "type": "synonym" }, { "name": "HHG-3", "type": "synonym" }, { "name": "SRXY7", "type": "synonym" } ], "record_id": "O43323-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q9NRD9-1", "uniprot_ac": "Q9NRD9", "uniprot_id": "DUOX1_HUMAN", "refseq_ac": "NP_059130", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Dual oxidase 1", "type": "recommended" }, { "name": "1.-.-.-", "type": "synonym" }, { "name": "1.11.1.-", "type": "synonym" }, { "name": "1.6.3.1", "type": "synonym" }, { "name": "Large NOX 1", "type": "synonym" }, { "name": "Long NOX 1", "type": "synonym" }, { "name": "NADPH thyroid oxidase 1", "type": "synonym" }, { "name": "Thyroid oxidase 1", "type": "synonym" }, { "name": "dual oxidase 1 precursor", "type": "synonym" }, { "name": "flavoprotein NADPH oxidase", "type": "synonym" }, { "name": "large NOX 1", "type": "synonym" }, { "name": "long NOX 1", "type": "synonym" }, { "name": "nicotinamide adenine dinucleotide phosphate oxidase", "type": "synonym" } ], "gene_names": [ { "name": "DUOX1", "type": "recommended" }, { "name": "DUOX1", "type": "synonym" }, { "name": "DUOX", "type": "synonym" }, { "name": "LNOX1", "type": "synonym" }, { "name": "NOXEF1", "type": "synonym" }, { "name": "THOX1", "type": "synonym" } ], "record_id": "Q9NRD9-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "Q15465-1", "uniprot_ac": "Q15465", "uniprot_id": "SHH_HUMAN", "refseq_ac": "NP_000184", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Sonic hedgehog protein", "type": "recommended" }, { "name": "3.1.-.-", "type": "synonym" }, { "name": "HHG-1", "type": "synonym" }, { "name": "SHH signaling molecule", "type": "synonym" }, { "name": "SHH", "type": "synonym" }, { "name": "Shh N-terminal processed signaling domains", "type": "synonym" }, { "name": "Shh unprocessed N-terminal signaling and C-terminal autoprocessing domains", "type": "synonym" }, { "name": "ShhNC", "type": "synonym" }, { "name": "ShhNp", "type": "synonym" }, { "name": "shh unprocessed N-terminal signaling and C-terminal autoprocessing domains", "type": "synonym" }, { "name": "sonic hedgehog homolog", "type": "synonym" }, { "name": "sonic hedgehog protein isoform 1 preproprotein", "type": "synonym" } ], "gene_names": [ { "name": "SHH", "type": "recommended" }, { "name": "HHG1", "type": "synonym" }, { "name": "HLP3", "type": "synonym" }, { "name": "HPE3", "type": "synonym" }, { "name": "MCOPCB5", "type": "synonym" }, { "name": "SHH", "type": "synonym" }, { "name": "SMMCI", "type": "synonym" }, { "name": "ShhNC", "type": "synonym" }, { "name": "TPTPS", "type": "synonym" }, { "name": "TPT", "type": "synonym" } ], "record_id": "Q15465-1", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] }, { "uniprot_canonical_ac": "P10070-5", "uniprot_ac": "P10070", "uniprot_id": "GLI2_HUMAN", "refseq_ac": "NP_005261", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Transcription activator GLI2", "type": "recommended" }, { "name": "GLI family zinc finger protein 2", "type": "synonym" }, { "name": "GLI-Kruppel family member GLI2", "type": "synonym" }, { "name": "Tax helper protein", "type": "synonym" }, { "name": "glioma-associated oncogene family zinc finger 2", "type": "synonym" }, { "name": "oncogene GLI2", "type": "synonym" }, { "name": "tax helper protein 1", "type": "synonym" }, { "name": "tax helper protein 2", "type": "synonym" }, { "name": "tax-responsive element-2 holding protein", "type": "synonym" }, { "name": "tax-responsive element-25-bp sequence binding protein", "type": "synonym" }, { "name": "zinc finger protein GLI2 isoform 1", "type": "synonym" }, { "name": "zinc finger protein GLI2", "type": "synonym" } ], "gene_names": [ { "name": "GLI2", "type": "recommended" }, { "name": "CJS", "type": "synonym" }, { "name": "GLI2", "type": "synonym" }, { "name": "HPE9", "type": "synonym" }, { "name": "PHS2", "type": "synonym" }, { "name": "THP1", "type": "synonym" }, { "name": "THP2", "type": "synonym" }, { "name": "THP", "type": "synonym" } ], "record_id": "P10070-5", "evidence": [ { "id": "0050338", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050338" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050338" }