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"https://monarchinitiative.org/disease/MONDO:0011477", "name": "PAX9-related selective tooth agenesis", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "STHAG3", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "hypodontia/oligodontia 3", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "tooth agenesis caused by mutation in PAX9", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "tooth agenesis, selective, 3", "description": "" }, { "id": "MONDO:0011477", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011477", "name": "tooth agenesis, selective, type 3", "description": "" }, { "id": "MONDO:0012583", "resource": 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musculus [10090]" } ], "protein_names": [ { "name": "Protein Wnt-10a", "type": "recommended" }, { "name": "protein Wnt-10a precursor", "type": "synonym" }, { "name": "protein Wnt-10a", "type": "synonym" }, { "name": "wingless related MMTV integration site 10a", "type": "synonym" } ], "gene_names": [ { "name": "Wnt10a", "type": "recommended" }, { "name": "Wnt10a", "type": "synonym" } ], "record_id": "P70701-1", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "P48614-1", "uniprot_ac": "P48614", "uniprot_id": "WN10B_MOUSE", "refseq_ac": "NP_035848", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Protein Wnt-10b", "type": "recommended" }, { "name": "Protein Wnt-12", "type": "synonym" }, { "name": "protein Wnt-10b precursor", "type": 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"name": "WNT10A", "type": "recommended" }, { "name": "ECTD16", "type": "synonym" }, { "name": "OODD", "type": "synonym" }, { "name": "SSPS", "type": "synonym" }, { "name": "STHAG4", "type": "synonym" }, { "name": "WNT10A", "type": "synonym" } ], "record_id": "Q9GZT5-1", "evidence": [ { "id": "150400", "database": "MIM", "url": "https://www.omim.org/entry/150400" }, { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "Q92838-1", "uniprot_ac": "Q92838", "uniprot_id": "EDA_HUMAN", "refseq_ac": "NP_001005609", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Ectodysplasin-A", "type": "recommended" }, { "name": "EDA protein", "type": "synonym" }, { "name": "Ectodermal dysplasia protein", "type": "synonym" }, { "name": "X-linked anhidroitic ectodermal dysplasia 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"https://www.omim.org/entry/313500" }, { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "P28360-1", "uniprot_ac": "P28360", "uniprot_id": "MSX1_HUMAN", "refseq_ac": "NP_002439", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Homeobox protein MSX-1", "type": "recommended" }, { "name": "Homeobox protein Hox-7", "type": "synonym" }, { "name": "Msh homeobox 1-like protein", "type": "synonym" }, { "name": "homeobox 7", "type": "synonym" }, { "name": "homeobox protein Hox-7", "type": "synonym" }, { "name": "homeobox protein MSX-1", "type": "synonym" }, { "name": "msh homeo box 1", "type": "synonym" }, { "name": "msh homeobox 1-like protein", "type": "synonym" }, { "name": "msh homeobox homolog 1", "type": "synonym" } ], "gene_names": [ { "name": "MSX1", "type": "recommended" }, { "name": "ECTD3", "type": "synonym" }, { "name": "HOX7", "type": "synonym" }, { "name": "HYD1", "type": "synonym" }, { "name": "MSX1", "type": "synonym" }, { "name": "STHAG1", "type": "synonym" } ], "record_id": "P28360-1", "evidence": [ { "id": "106600", "database": "MIM", "url": "https://www.omim.org/entry/106600" }, { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "P49001-1", "uniprot_ac": "P49001", "uniprot_id": "BMP2_RAT", "refseq_ac": "NP_058874", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Bone morphogenetic protein 2", "type": "recommended" }, { "name": "BMP-2A", "type": "synonym" }, { "name": "BMP-2", "type": "synonym" }, { "name": "Bone morphogenetic protein 2A", "type": "synonym" }, { "name": "bone morphogenetic protein 2 precursor", "type": "synonym" }, { "name": "bone morphogenetic protein 2A", "type": "synonym" } ], "gene_names": [ { "name": "Bmp2", "type": "recommended" }, { "name": "Bmp-2", "type": "synonym" }, { "name": "Bmp2", "type": "synonym" } ], "record_id": "P49001-1", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "A0A096MIW0-1", "uniprot_ac": "A0A096MIW0", "uniprot_id": "A0A096MIW0_RAT", "refseq_ac": "NP_001292172", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Ectodysplasin-A", "type": "recommended" }, { "name": "ectodysplasin-A isoform 1", "type": "synonym" }, { "name": "tumor necrosis factor ligand 7c", "type": "synonym" } ], "gene_names": [ { "name": "Eda", "type": "recommended" }, { "name": "Eda", "type": "synonym" }, { "name": "RGD1563178", "type": "synonym" }, { "name": "Tnlg7c", "type": "synonym" } ], "record_id": "A0A096MIW0-1", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "Q06826-1", "uniprot_ac": "Q06826", "uniprot_id": "BMP4_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": "Bone morphogenetic protein 4", "type": "recommended" }, { "name": "BMP-2B", "type": "synonym" }, { "name": "BMP-4", "type": "synonym" }, { "name": "Bone morphogenetic protein 2B", "type": "synonym" } ], "gene_names": [ { "name": "Bmp4", "type": "recommended" }, { "name": "Bmp-4", "type": "synonym" }, { "name": "Dvr-4", "type": "synonym" } ], "record_id": "Q06826-1", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "A0A0G2K0H3-1", "uniprot_ac": "A0A0G2K0H3", "uniprot_id": "A0A0G2K0H3_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": "Low-density lipoprotein receptor-related protein", "type": "recommended" } ], "gene_names": [ { "name": "Lrp6", "type": "recommended" } ], "record_id": "A0A0G2K0H3-1", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "D3ZXD0-1", "uniprot_ac": "D3ZXD0", "uniprot_id": "D3ZXD0_RAT", "refseq_ac": "NP_001099444", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], 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"homeo box, msh-like 1", "type": "synonym" }, { "name": "homeobox protein MSX-1", "type": "synonym" } ], "gene_names": [ { "name": "Msx1", "type": "recommended" }, { "name": "Msx1", "type": "synonym" } ], "record_id": "A0ABK0LJN7-1", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "Q2L4T2-1", "uniprot_ac": "Q2L4T2", "uniprot_id": "PAX9_RAT", "refseq_ac": "NP_001034628", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Paired box protein Pax-9", "type": "recommended" }, { "name": "paired box gene 9", "type": "synonym" }, { "name": "paired box protein Pax-9", "type": "synonym" } ], "gene_names": [ { "name": "Pax9", "type": "recommended" }, { "name": "Pax9", "type": "synonym" } ], "record_id": "Q2L4T2-1", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "A0A0G2K6Q8-1", "uniprot_ac": "A0A0G2K6Q8", "uniprot_id": "A0A0G2K6Q8_RAT", "refseq_ac": "NP_001101581", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Protein Wnt", "type": "recommended" }, { "name": "protein Wnt-10b precursor", "type": "synonym" }, { "name": "protein Wnt-10b", "type": "synonym" }, { "name": "wingless related MMTV integration site 10b", "type": "synonym" }, { "name": "wingless-type MMTV integration site family, member 10B", "type": "synonym" } ], "gene_names": [ { "name": "Wnt10b", "type": "recommended" }, { "name": "Wnt10b", "type": "synonym" } ], "record_id": "A0A0G2K6Q8-1", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "F1LTU1-1", "uniprot_ac": "F1LTU1", "uniprot_id": "F1LTU1_RAT", "refseq_ac": "NP_001418967", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Thrombospondin-type laminin G domain and EAR repeats", "type": "synonym" }, { "name": "protein TSPEAR isoform 2 precursor", "type": "synonym" }, { "name": "protein TSPEAR", "type": "synonym" } ], "gene_names": [ { "name": "Tspear", "type": "recommended" }, { "name": "RGD1563108", "type": "synonym" }, { "name": "Tspear", "type": "synonym" } ], "record_id": "F1LTU1-1", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "D3ZRW5-1", "uniprot_ac": "D3ZRW5", "uniprot_id": "D3ZRW5_RAT", "refseq_ac": "", 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transferase NEDD4", "type": "synonym" }, { "name": "neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase", "type": "synonym" }, { "name": "neural precursor cell expressed, developmentally down-regulated gene 4A", "type": "synonym" } ], "gene_names": [ { "name": "Nedd4", "type": "recommended" }, { "name": "Nedd4a", "type": "synonym" }, { "name": "Nedd4", "type": "synonym" }, { "name": "Rpf1", "type": "synonym" } ], "record_id": "Q62940-1", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "P07713-1", "uniprot_ac": "P07713", "uniprot_id": "DECA_DROME", "refseq_ac": "NP_477311", "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 decapentaplegic", "type": 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"AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "P23757-1", "uniprot_ac": "P23757", "uniprot_id": "POXM_DROME", "refseq_ac": "NP_001036687", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Paired box pox-meso protein", "type": "recommended" }, { "name": "CG9610-PC", "type": "synonym" }, { "name": "Paired box mesodermal protein", "type": "synonym" }, { "name": "Pox meso", "type": "synonym" }, { "name": "Pox-meso", "type": "synonym" }, { "name": "Poxm-PC", "type": "synonym" }, { "name": "paired box mesodermal", "type": "synonym" }, { "name": "paired box-meso", "type": "synonym" } ], "gene_names": [ { "name": "Poxm", "type": "recommended" }, { "name": "CG9610", "type": "synonym" }, { "name": "Dmel\\CG9610", "type": "synonym" }, { "name": "P29", "type": 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"CG4971", "type": "synonym" }, { "name": "D-Wnt-10", "type": "synonym" }, { "name": "DWnt-10", "type": "synonym" }, { "name": "DWnt10", "type": "synonym" }, { "name": "Dm DWnt10", "type": "synonym" }, { "name": "Dmel\\CG4971", "type": "synonym" }, { "name": "Dmel_CG4971", "type": "synonym" }, { "name": "Dwnt-10", "type": "synonym" }, { "name": "Dwnt10", "type": "synonym" }, { "name": "Wnt10", "type": "synonym" }, { "name": "wnt10", "type": "synonym" } ], "record_id": "Q9VM25-1", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "A8DQW8-1", "uniprot_ac": "A8DQW8", "uniprot_id": "A8DQW8_DROME", "refseq_ac": "NP_001097246", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG42600-PD", "type": "synonym" }, { 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"P12111-1", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "O00744-1", "uniprot_ac": "O00744", "uniprot_id": "WN10B_HUMAN", "refseq_ac": "NP_003385", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Protein Wnt-10b", "type": "recommended" }, { "name": "Protein Wnt-12", "type": "synonym" }, { "name": "WNT-10B protein", "type": "synonym" }, { "name": "protein Wnt-10b precursor", "type": "synonym" }, { "name": "protein Wnt-10b", "type": "synonym" }, { "name": "wingless-type MMTV integration site family, member 10B", "type": "synonym" } ], "gene_names": [ { "name": "WNT10B", "type": "recommended" }, { "name": "SHFM6", "type": "synonym" }, { "name": "STHAG8", "type": "synonym" }, { "name": "WNT-12", "type": "synonym" }, { "name": "WNT10B", 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{ "name": "gremlin 2, cysteine knot superfamily, homolog", "type": "synonym" }, { "name": "gremlin-2 precursor", "type": "synonym" }, { "name": "gremlin-2", "type": "synonym" }, { "name": "protein related to DAN and cerberus", "type": "synonym" } ], "gene_names": [ { "name": "GREM2", "type": "recommended" }, { "name": "CKTSF1B2", "type": "synonym" }, { "name": "DAND3", "type": "synonym" }, { "name": "GREM2", "type": "synonym" }, { "name": "PRDC", "type": "synonym" }, { "name": "STHAG9", "type": "synonym" } ], "record_id": "Q9H772-1", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "O75581-1", "uniprot_ac": "O75581", "uniprot_id": "LRP6_HUMAN", "refseq_ac": "NP_002327", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Low-density lipoprotein receptor-related protein 6", "type": "recommended" }, { "name": "LRP-6", "type": "synonym" }, { "name": "low-density lipoprotein receptor-related protein 6 isoform b precursor", "type": "synonym" }, { "name": "low-density lipoprotein receptor-related protein 6", "type": "synonym" } ], "gene_names": [ { "name": "LRP6", "type": "recommended" }, { "name": "ADCAD2", "type": "synonym" }, { "name": "EVR8", "type": "synonym" }, { "name": "LRP6", "type": "synonym" }, { "name": "OPTA4", "type": "synonym" }, { "name": "STHAG7", "type": "synonym" } ], "record_id": "O75581-1", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "P12644-1", "uniprot_ac": "P12644", "uniprot_id": "BMP4_HUMAN", "refseq_ac": "NP_001193", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Bone morphogenetic protein 4", "type": "recommended" }, { "name": "BMP-2B", "type": "synonym" }, { "name": "BMP-4", "type": "synonym" }, { "name": "Bone morphogenetic protein 2B", "type": "synonym" }, { "name": "bone morphogenetic protein 2B", "type": "synonym" }, { "name": "bone morphogenetic protein 4 isoform a preproprotein", "type": "synonym" } ], "gene_names": [ { "name": "BMP4", "type": "recommended" }, { "name": "BMP2B1", "type": "synonym" }, { "name": "BMP2B", "type": "synonym" }, { "name": "BMP4", "type": "synonym" }, { "name": "DVR4", "type": "synonym" }, { "name": "MCOPS6", "type": "synonym" }, { "name": "OFC11", "type": "synonym" }, { "name": "ZYME", "type": "synonym" } ], "record_id": "P12644-1", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] }, { "uniprot_canonical_ac": "P12643-1", "uniprot_ac": "P12643", "uniprot_id": "BMP2_HUMAN", "refseq_ac": "NP_001191", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Bone morphogenetic protein 2", "type": "recommended" }, { "name": "BMP-2A", "type": "synonym" }, { "name": "BMP-2", "type": "synonym" }, { "name": "Bone morphogenetic protein 2A", "type": "synonym" }, { "name": "bone morphogenetic protein 2 preproprotein", "type": "synonym" }, { "name": "bone morphogenetic protein 2A", "type": "synonym" } ], "gene_names": [ { "name": "BMP2", "type": "recommended" }, { "name": "BDA2", "type": "synonym" }, { "name": "BMP2A", "type": "synonym" }, { "name": "BMP2", "type": "synonym" }, { "name": "SSFSC1", "type": "synonym" }, { "name": "SSFSC", "type": "synonym" } ], "record_id": "P12643-1", "evidence": [ { "id": "0050591", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050591" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0050591" }