{ "uniprot_canonical_ac": "Q9XZU0-1", "uniprot_ac": "Q9XZU0", "uniprot_id": "Q9XZU0_DROME", "mass": { "chemical_mass": 39335.0, "monoisotopic_mass": 39335.0 }, "refseq": { "ac": "NP_477330", "name": "PvuII-PstI homology 13", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_477330" }, "gene_names": [ { "name": "Pph13", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9XZU0", "id": "Q9XZU0" }, { "name": "60Mun1; CG2819; Dmel\\CG2819; hazy; Mu; pph13; PPH13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_477330", "id": "NP_477330" }, { "name": "60Mun1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9XZU0", "id": "Q9XZU0" }, { "name": "CG2819", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9XZU0", "id": "Q9XZU0" }, { "name": "Dmel\\CG2819", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9XZU0", "id": "Q9XZU0" }, { "name": "Dmel_CG2819", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9XZU0", "id": "Q9XZU0" }, { "name": "Mu", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9XZU0", "id": "Q9XZU0" }, { "name": "PPH13", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9XZU0", "id": "Q9XZU0" }, { "name": "Pph13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_477330", "id": "NP_477330" }, { "name": "hazy", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9XZU0", "id": "Q9XZU0" }, { "name": "pph13", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9XZU0", "id": "Q9XZU0" } ], "protein_names": [ { "name": "CG2819-PA; Pph13-PA; hazy; munster", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_477330", "id": "NP_477330" }, { "name": "FI01102p", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9XZU0" }, { "name": "Munster protein", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9XZU0" }, { "name": "PvuII-PstI homology 13", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_477330", "id": "NP_477330" }, { "name": "PvuII-PstI homology 13", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9XZU0" } ], "function": [], "disease": [ { "disease_id": "DOID:0060285", "recommended_name": { "id": "DOID:0060285", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060285", "name": "parietal foramina", "description": "An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene." }, "synonyms": [ { "id": "DOID:0060285", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060285", "name": "Caitlin marks", "description": "" }, { "id": "DOID:0060285", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060285", "name": "enlarged parietal foramina", "description": "" }, { "id": "DOID:0060285", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060285", "name": "hereditary cranium bifidum", "description": "" }, { "id": "MONDO:0012309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012309", "name": "parietal foramina 2", "description": "Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene." }, { "id": "MONDO:0012309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012309", "name": "ALX4 parietal foramina", "description": "" }, { "id": "MONDO:0012309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012309", "name": "parietal foramina 2", "description": "" }, { "id": "MONDO:0012309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012309", "name": "parietal foramina caused by mutation in ALX4", "description": "" }, { "id": "MONDO:0012309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012309", "name": "parietal foramina type 2", "description": "" }, { "id": "MONDO:0012309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012309", "name": "PFM2", "description": "" }, { "id": "MONDO:0012302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012302", "name": "parietal foramina 3", "description": "" }, { "id": "MONDO:0012302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012302", "name": "PFM3", "description": "" }, { "id": "MONDO:0012302", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012302", "name": "parietal foramina 3", "description": "" }, { "id": "MONDO:0008197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008197", "name": "parietal foramina 1", "description": "Any parietal foramina in which the cause of the disease is a mutation in the MSX2 gene." }, { "id": "MONDO:0008197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008197", "name": "MSX2 parietal foramina", "description": "" }, { "id": "MONDO:0008197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008197", "name": "parietal foramina 1", "description": "" }, { "id": "MONDO:0008197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008197", "name": "parietal foramina caused by mutation in MSX2", "description": "" }, { "id": "MONDO:0008197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008197", "name": "PFM", "description": "" }, { "id": "MONDO:0008197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008197", "name": "PFM1", "description": "" }, { "id": "MONDO:0008197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008197", "name": "catlin Marks", "description": "" }, { "id": "MONDO:0008197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008197", "name": "cranium bifidum occultum", "description": "" }, { "id": "MONDO:0008197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008197", "name": "cranium bifidum, hereditary", "description": "" }, { "id": "MONDO:0008197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008197", "name": "foramina parietalia permagna", "description": "" }, { "id": "MONDO:0008197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008197", "name": "parietal foramina", "description": "" }, { "id": "MONDO:0008197", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008197", "name": "parietal foramina, symmetric", "description": "" }, { "id": "MIM:609597", "resource": "MIM", "url": "https://www.omim.org/entry/609597", "name": "Parietal foramina 2", "description": "Parietal foramina 2" }, { "id": "MIM:168500", "resource": "MIM", "url": "https://www.omim.org/entry/168500", "name": "Parietal foramina 1", "description": "Parietal foramina 1" } ], "evidence": [ { "id": "0060285", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060285" } ] }, { "disease_id": "DOID:0081045", "recommended_name": { "id": "DOID:0081045", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081045", "name": "frontonasal dysplasia 1", "description": "A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13." }, "synonyms": [ { "id": "DOID:0081045", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081045", "name": "Frontorhiny", "description": "" }, { "id": "MONDO:0007636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007636", "name": "frontorhiny", "description": "Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed." }, { "id": "MONDO:0007636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007636", "name": "ALX3-related frontonasal dysplasia", "description": "" }, { "id": "MONDO:0007636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007636", "name": "frontonasal dysplasia type 1", "description": "" }, { "id": "MONDO:0007636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007636", "name": "frontorhiny", "description": "" }, { "id": "MONDO:0007636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007636", "name": "isolated median cleft face syndrome", "description": "" }, { "id": "MONDO:0007636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007636", "name": "FND1", "description": "" }, { "id": "MONDO:0007636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007636", "name": "frontonasal dysplasia", "description": "" }, { "id": "MONDO:0007636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007636", "name": "frontonasal dysplasia 1", "description": "" }, { "id": "MONDO:0007636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007636", "name": "frontonasal malformation", "description": "" }, { "id": "MONDO:0007636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007636", "name": "isolated median cleft syndrome", "description": "" }, { "id": "MONDO:0007636", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007636", "name": "median Facial cleft syndrome", "description": "" }, { "id": "MIM:136760", "resource": "MIM", "url": "https://www.omim.org/entry/136760", "name": "Frontonasal dysplasia 1", "description": "Frontonasal dysplasia 1" } ], "evidence": [ { "id": "0081045", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0081045" } ] }, { "disease_id": "DOID:0081046", "recommended_name": { "id": "DOID:0081046", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081046", "name": "frontonasal dysplasia 2", "description": "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11." }, "synonyms": [ { "id": "MONDO:0013268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013268", "name": "frontonasal dysplasia with alopecia and genital anomaly", "description": "Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism." }, { "id": "MONDO:0013268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013268", "name": "ALX4-related FNDAG", "description": "" }, { "id": "MONDO:0013268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013268", "name": "craniofrontonasal dysplasia with alopecia and hypogonadism", "description": "" }, { "id": "MONDO:0013268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013268", "name": "frontonasal dysplasia type 2", "description": "" }, { "id": "MONDO:0013268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013268", "name": "frontonasal dysplasia with alopecia and genital abnomality", "description": "" }, { "id": "MONDO:0013268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013268", "name": "FND2", "description": "" }, { "id": "MONDO:0013268", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013268", "name": "frontonasal dysplasia 2", "description": "" }, { "id": "MIM:613451", "resource": "MIM", "url": "https://www.omim.org/entry/613451", "name": "Frontonasal dysplasia 2", "description": "Frontonasal dysplasia 2" } ], "evidence": [ { "id": "0081046", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0081046" } ] }, { "disease_id": "DOID:0081047", "recommended_name": { "id": "DOID:0081047", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081047", "name": "frontonasal dysplasia 3", "description": "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21." }, "synonyms": [ { "id": "MONDO:0013271", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013271", "name": "frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome", "description": "" }, { "id": "MONDO:0013271", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013271", "name": "ALX1-related frontonasal dysplasia", "description": "" }, { "id": "MONDO:0013271", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013271", "name": "frontonasal dysplasia type 3", "description": "" }, { "id": "MONDO:0013271", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013271", "name": "FND3", "description": "" }, { "id": "MONDO:0013271", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013271", "name": "frontonasal dysplasia 3", "description": "" }, { "id": "MIM:613456", "resource": "MIM", "url": "https://www.omim.org/entry/613456", "name": "Frontonasal dysplasia 3", "description": "Frontonasal dysplasia 3" } ], "evidence": [ { "id": "0081047", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0081047" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "cancer of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ], "evidence": [ { "id": "1324", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1324" } ] }, { "disease_id": "DOID:2340", "recommended_name": { "id": "DOID:2340", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2340", "name": "craniosynostosis", "description": "A synostosis that results_in premature fusion located_in skull." }, "synonyms": [ { "id": "DOID:2340", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2340", "name": "Premature closure of cranial sutures", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "TCF12-related craniosynostosis", "description": "Any syndromic craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene." }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "TCF12 craniosynostosis", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "TCF12-related craniosynostosis", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "craniosynostosis 3", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "craniosynostosis caused by mutation in TCF12", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "craniosynostosis type 3", "description": "" }, { "id": "MONDO:0014128", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014128", "name": "CRS3", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis 2", "description": "A form of syndromic craniosynostosis, characterized by a highly variable craniosynostosis with frontal bossing, turribrachycephaly and cloverleaf skull anomaly. Hypoplasia of the supraorbital ridges, cleft palate, extra teeth and limb anomalies (triphalangeal thumb, 3-4 syndactyly of the hands, a short first metatarsal, middle phalangeal agenesis in the feet) have also been described. Associated problems include headache, poor vision, and seizures. Intelligence is normal." }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "CRS2", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "MSX2-related craniosynostosis", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "Warman-Mulliken-Hayward syndrome", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis 2", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis type 2", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis, Warman type", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "Warman Mulliken Hayward syndrome", "description": "" }, { "id": "MONDO:0011481", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011481", "name": "craniosynostosis Warman type", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "craniosynostosis 4", "description": "Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene." }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "ERF craniosynostosis", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "ERF-related craniosynostosis", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "craniosynostosis 4", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "craniosynostosis caused by mutation in ERF", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "craniosynostosis type 4", "description": "" }, { "id": "MONDO:0010929", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010929", "name": "CRS4", "description": "" }, { "id": "MONDO:0010903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010903", "name": "craniosynostosis, Adelaide type", "description": "" }, { "id": "MONDO:0010903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010903", "name": "craniosynostosis, Adelaide type", "description": "" }, { "id": "MONDO:0010903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010903", "name": "CRSA", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Shprintzen-Goldberg syndrome", "description": "Shprintzen-Goldberg syndrome (SGS) is a very rare genetic disorder characterized by craniosynostosis, craniofacial and skeletal abnormalities, marfanoid habitus, cardiac anomalies, neurological abnormalities, and intellectual disability." }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Marfanoid craniosynostosis syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "SGS", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Shprintzen-Goldberg syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Marfanoid disorder with craniosynostosis type 1", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Marfanoid disorder with craniosynostosis, type 1", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Marfanoid-craniosynostosis syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Shprintzen-Goldberg craniosynostosis syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "Shprintzen-Goldberg marfanoid syndrome", "description": "" }, { "id": "MONDO:0008426", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008426", "name": "craniosynostosis with arachnodactyly and abdominal hernias", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "TWIST1-related craniosynostosis", "description": "Any craniosynostosis in which the cause of the disease is a mutation in the TWIST1 gene." }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "TWIST1-related craniosynostosis", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "craniosynostosis 1", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "craniosynostosis type 1", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "CRS", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "CRS1", "description": "" }, { "id": "MONDO:0007399", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007399", "name": "craniostenosis", "description": "" }, { "id": "MIM:615314", "resource": "MIM", "url": "https://www.omim.org/entry/615314", "name": "Craniosynostosis 3", "description": "Craniosynostosis 3" }, { "id": "MIM:604757", "resource": "MIM", "url": "https://www.omim.org/entry/604757", "name": "Craniosynostosis 2", "description": "Craniosynostosis 2" }, { "id": "MIM:600775", "resource": "MIM", "url": "https://www.omim.org/entry/600775", "name": "Craniosynostosis 4", "description": "Craniosynostosis 4" }, { "id": "MIM:182212", "resource": "MIM", "url": "https://www.omim.org/entry/182212", "name": "Shprintzen-Goldberg craniosynostosis syndrome", "description": "Shprintzen-Goldberg craniosynostosis syndrome" }, { "id": "MIM:123100", "resource": "MIM", "url": "https://www.omim.org/entry/123100", "name": "Craniosynostosis 1", "description": "Craniosynostosis 1" } ], "evidence": [ { "id": "2340", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:2340" } ] }, { "disease_id": "DOID:3717", "recommended_name": { "id": "DOID:3717", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3717", "name": "gastric adenocarcinoma", "description": "A stomach carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:3717", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3717", "name": "adenocarcinoma of stomach", "description": "" }, { "id": "DOID:3717", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3717", "name": "stomach adenocarcinoma", "description": "" } ], "evidence": [ { "id": "3717", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3717" } ] }, { "disease_id": "DOID:3910", "recommended_name": { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "lung adenocarcinoma", "description": "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin." }, "synonyms": [ { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "bronchogenic lung adenocarcinoma", "description": "" }, { "id": "DOID:3910", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3910", "name": "nonsmall cell adenocarcinoma", "description": "" } ], "evidence": [ { "id": "3910", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3910" } ] }, { "disease_id": "DOID:4926", "recommended_name": { "id": "DOID:4926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4926", "name": "bronchiolo-alveolar adenocarcinoma", "description": "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension." }, "synonyms": [ { "id": "DOID:4926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4926", "name": "Bronchioalveolar lung carcinoma", "description": "" }, { "id": "DOID:4926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4926", "name": "Bronchioloalveolar carcinoma", "description": "" }, { "id": "DOID:4926", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4926", "name": "Minimally Invasive Lung Adenocarcinoma", "description": "" } ], "evidence": [ { "id": "4926", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4926" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ], "evidence": [ { "id": "9256", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9256" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprot/Q9XZU0" } ], "common_name": "Fruit fly" } ], "gene": [ { "name": "Pph13", "url": "https://www.uniprot.org/uniprot/Q9XZU0", "locus": { "chromosome": "2L", "start_pos": 579549, "end_pos": 577486, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "FBgn0023489", "url": "https://www.ensembl.org/id/FBgn0023489" } ] } } ], "crossref": [ { "id": "FBgn0023489", "url": "https://bgee.org/?page=gene&gene_id=FBgn0023489", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00086", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00086", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "FBgn0023489", "url": "https://flybase.org/reports/FBgn0023489", "database": "FlyBase", "categories": [ "Organism-specific" ] }, { "id": "33239", "url": "https://www.ncbi.nlm.nih.gov/gene/33239", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "Q9XZU0", "url": "https://www.ebi.ac.uk/intact/interactors/id:Q9XZU0*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001356", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001356", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR009057", "url": "https://www.ebi.ac.uk/interpro/entry/IPR009057", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR017970", "url": "https://www.ebi.ac.uk/interpro/entry/IPR017970", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dme:Dmel_CG2819", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+dme:Dmel_CG2819", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "LCLEGIG", "url": "https://omabrowser.org/oma/group/LCLEGIG/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "2901226at2759", "url": "http://www.orthodb.org/?query=2901226at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24329", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24329", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24329:SF543", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24329:SF543", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00046", "url": "http://pfam.xfam.org/family/PF00046", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "NP_477330", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_477330", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprot/Q9XZU0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q9XZU0-1", "url": "https://www.uniprot.org/uniprot/Q9XZU0-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MDKGTMKRKQRRYRTTFNTLQLQELERAFQRTHYPDVFFREELAVRIDLTEARVQVWFQNRRAKWRKQEKIGGLGGDYKEGALDLDVSYDDSAVLGQLDSALGGGGTLLPDTPPQSSNSLDNELKASYGTGAMSPSRLSPNIFLNLNIDHLGLERGGSGLSMEWSTYPPQTQAQTHPQMDSDNQLQQHPPQQHASDPIHAGSSSHHQQQQQQHQQEQHNPQLHPGLEFAASLSLDMTDGSSAYDEMKFLSVDVDQFTIDSFKADCILSMEQSQMQAYGGHSQLVGSSNELCLDGIGMSSFGMEEGEPKSPPSLLVLDKSLPSLSIGVEGIADLVEQLHHHQHEGGPVGGGVITGDVM", "length": 357, "header": "tr|Q9XZU0-1|Q9XZU0_DROME Isoform 1 of Munster protein OS=Drosophila melanogaster OX=7227 GN=Pph13 PE=2 SV=1 CANONICAL=Q9XZU0-1" }, "isoforms": [ { "isoform_ac": "Q9XZU0-1", "url": "", "sequence": { "sequence": "MDKGTMKRKQRRYRTTFNTLQLQELERAFQRTHYPDVFFREELAVRIDLTEARVQVWFQNRRAKWRKQEKIGGLGGDYKEGALDLDVSYDDSAVLGQLDSALGGGGTLLPDTPPQSSNSLDNELKASYGTGAMSPSRLSPNIFLNLNIDHLGLERGGSGLSMEWSTYPPQTQAQTHPQMDSDNQLQQHPPQQHASDPIHAGSSSHHQQQQQQHQQEQHNPQLHPGLEFAASLSLDMTDGSSAYDEMKFLSVDVDQFTIDSFKADCILSMEQSQMQAYGGHSQLVGSSNELCLDGIGMSSFGMEEGEPKSPPSLLVLDKSLPSLSIGVEGIADLVEQLHHHQHEGGPVGGGVITGDVM", "length": 357, "header": "tr|Q9XZU0-1|Q9XZU0_DROME Isoform 1 of Munster protein OS=Drosophila melanogaster OX=7227 GN=Pph13 PE=2 SV=1 CANONICAL=Q9XZU0-1" }, "locus": { "chromosome": "2L", "start_pos": 579247, "end_pos": 577993, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "FBtr0078070", "url": "https://www.ensembl.org/id/FBtr0078070" }, { "database": "Ensembl Peptide", "id": "FBpp0077730", "url": "https://www.ensembl.org/id/FBpp0077730" } ] } } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Munster, a novel paired-class homeobox gene specifically expressed in the Drosophila larval eye.", "journal": "Mech. Dev.", "date": "1999", "authors": "Goriely A., Desplan C., Coffinier C., Mollereau B.", "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprot/Q9XZU0" } ], "reference": [ { "type": "PubMed", "id": "10525194", "url": "https://glygen.org/publication/PubMed/10525194" } ] }, { "title": "The genome sequence of Drosophila melanogaster.", "journal": "Science", "date": "2000", "authors": "Adams MD, Celniker SE, Holt RA, Evans CA, Gocayne JD, Amanatides PG, Scherer SE, Li PW, Hoskins RA, Galle RF, George RA, Lewis SE, Richards S, Ashburner M, Henderson SN, Sutton GG, Wortman JR, Yandell MD, Zhang Q, Chen LX, Brandon RC, Rogers YH, Blazej RG, Champe M, Pfeiffer BD, Wan KH, Doyle C, Baxter EG, Helt G, Nelson CR, Gabor GL, Abril JF, Agbayani A, An HJ, Andrews-Pfannkoch C, Baldwin D, Ballew RM, Basu A, Baxendale J, Bayraktaroglu L, Beasley EM, Beeson KY, Benos PV, Berman BP, Bhandari D, Bolshakov S, Borkova D, Botchan MR, Bouck J, Brokstein P, Brottier P, Burtis KC, Busam DA, Butler H, Cadieu E, Center A, Chandra I, Cherry JM, Cawley S, Dahlke C, Davenport LB, Davies P, de Pablos B, Delcher A, Deng Z, Mays AD, Dew I, Dietz SM, Dodson K, Doup LE, Downes M, Dugan-Rocha S, Dunkov BC, Dunn P, Durbin KJ, Evangelista CC, Ferraz C, Ferriera S, Fleischmann W, Fosler C, Gabrielian AE, Garg NS, Gelbart WM, Glasser K, Glodek A, Gong F, Gorrell JH, Gu Z, Guan P, Harris M, Harris NL, Harvey D, Heiman TJ, Hernandez JR, Houck J, Hostin D, Houston KA, Howland TJ, Wei MH, Ibegwam C, Jalali M, Kalush F, Karpen GH, Ke Z, Kennison JA, Ketchum KA, Kimmel BE, Kodira CD, Kraft C, Kravitz S, Kulp D, Lai Z, Lasko P, Lei Y, Levitsky AA, Li J, Li Z, Liang Y, Lin X, Liu X, Mattei B, McIntosh TC, McLeod MP, McPherson D, Merkulov G, Milshina NV, Mobarry C, Morris J, Moshrefi A, Mount SM, Moy M, Murphy B, Murphy L, Muzny DM, Nelson DL, Nelson DR, Nelson KA, Nixon K, Nusskern DR, Pacleb JM, Palazzolo M, Pittman GS, Pan S, Pollard J, Puri V, Reese MG, Reinert K, Remington K, Saunders RD, Scheeler F, Shen H, Shue BC, Siden-Kiamos I, Simpson M, Skupski MP, Smith T, Spier E, Spradling AC, Stapleton M, Strong R, Sun E, Svirskas R, Tector C, Turner R, Venter E, Wang AH, Wang X, Wang ZY, Wassarman DA, Weinstock GM, Weissenbach J, Williams SM, WoodageT, Worley KC, Wu D, Yang S, Yao QA, Ye J, Yeh RF, Zaveri JS, Zhan M, Zhang G, Zhao Q, Zheng L, Zheng XH, Zhong FN, Zhong W, Zhou X, Zhu S, Zhu X, Smith HO, Gibbs RA, Myers EW, Rubin GM, Venter JC", "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprot/Q9XZU0" } ], "reference": [ { "type": "PubMed", "id": "10731132", "url": "https://glygen.org/publication/PubMed/10731132" } ] }, { "title": "Finishing a whole-genome shotgun: release 3 of the Drosophila melanogaster euchromatic genome sequence.", "journal": "Genome Biol.", "date": "2002", "authors": "Celniker SE, Wheeler DA, Kronmiller B, Carlson JW, Halpern A, Patel S, Adams M, Champe M, Dugan SP, Frise E, Hodgson A, George RA, Hoskins RA, Laverty T, Muzny DM, Nelson CR, Pacleb JM, Park S, Pfeiffer BD, Richards S, Sodergren EJ, Svirskas R, Tabor PE, Wan K, Stapleton M, Sutton GG, Venter C, Weinstock G, Scherer SE, Myers EW, Gibbs RA, Rubin GM", "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprot/Q9XZU0" } ], "reference": [ { "type": "PubMed", "id": "12537568", "url": "https://glygen.org/publication/PubMed/12537568" } ] }, { "title": "Annotation of the Drosophila melanogaster euchromatic genome: a systematic review.", "journal": "Genome Biol.", "date": "2002", "authors": "Misra S, Crosby MA, Mungall CJ, Matthews BB, Campbell KS, Hradecky P, Huang Y, Kaminker JS, Millburn GH, Prochnik SE, Smith CD, Tupy JL, Whitfied EJ, Bayraktaroglu L, Berman BP, Bettencourt BR, Celniker SE, de Grey AD, Drysdale RA, Harris NL, Richter J, Russo S, Schroeder AJ, Shu SQ, Stapleton M, Yamada C, Ashburner M, Gelbart WM, Rubin GM, Lewis SE", "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprot/Q9XZU0" } ], "reference": [ { "type": "PubMed", "id": "12537572", "url": "https://glygen.org/publication/PubMed/12537572" } ] }, { "title": "The transposable elements of the Drosophila melanogaster euchromatin: a genomics perspective.", "journal": "Genome Biol.", "date": "2002", "authors": "Kaminker JS, Bergman CM, Kronmiller B, Carlson J, Svirskas R, Patel S, Frise E, Wheeler DA, Lewis SE, Rubin GM, Ashburner M, Celniker SE", "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprot/Q9XZU0" } ], "reference": [ { "type": "PubMed", "id": "12537573", "url": "https://glygen.org/publication/PubMed/12537573" } ] }, { "title": "Heterochromatic sequences in a Drosophila whole-genome shotgun assembly.", "journal": "Genome Biol.", "date": "2002", "authors": "Hoskins RA, Smith CD, Carlson JW, Carvalho AB, Halpern A, Kaminker JS, Kennedy C, Mungall CJ, Sullivan BA, Sutton GG, Yasuhara JC, 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Biol.", "date": "2005", "authors": "Quesneville H, Bergman CM, Andrieu O, Autard D, Nouaud D, Ashburner M, Anxolabehere D", "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprot/Q9XZU0" } ], "reference": [ { "type": "PubMed", "id": "16110336", "url": "https://glygen.org/publication/PubMed/16110336" } ] }, { "title": "The Release 5.1 annotation of Drosophila melanogaster heterochromatin.", "journal": "Science", "date": "2007", "authors": "Smith CD, Shu S, Mungall CJ, Karpen GH", "evidence": [ { "database": "UniProtKB", "id": "Q9XZU0", "url": "https://www.uniprot.org/uniprot/Q9XZU0" } ], "reference": [ { "type": "PubMed", "id": "17569856", "url": "https://glygen.org/publication/PubMed/17569856" } ] }, { "title": "Sequence finishing and mapping of Drosophila melanogaster heterochromatin.", "journal": "Science", "date": "2007", "authors": "Hoskins RA, Carlson JW, Kennedy C, Acevedo D, Evans-Holm M, Frise E, Wan KH, Park S, Mendez-Lago M, Rossi F, 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