{ "uniprot_canonical_ac": "P0C7Q2-1", "uniprot_ac": "P0C7Q2", "uniprot_id": "ARMS2_HUMAN", "mass": { "chemical_mass": 11437.0, "monoisotopic_mass": 11437.0 }, "refseq": { "ac": "NP_001093137", "name": "age-related maculopathy susceptibility protein 2", "summary": "This gene encodes a small secreted protein specific to primates. This protein is a component of the choroidal extracellular matrix of the eye. Mutations in this gene are associated with age-related macular degeneration. [provided by RefSeq, Sep 2017].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137" }, "gene_names": [ { "name": "ARMS2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0C7Q2", "id": "P0C7Q2" }, { "name": "ARMD8", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137", "id": "NP_001093137" }, { "name": "ARMS2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137", "id": "NP_001093137" } ], "protein_names": [ { "name": "Age-related maculopathy susceptibility protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0C7Q2" }, { "name": "age-related maculopathy susceptibility protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137", "id": "NP_001093137" } ], "function": [ { "annotation": "Associations of ARMS2 and NR3C2 genes polymorphisms with central serous chorioretinopathy in a Greek population.", "evidence": [ { "database": "RefSeq", "id": "NP_001093137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137" }, { "database": "PubMed", "id": "36734065", "url": "https://glygen.org/publication/PubMed/36734065" } ] }, { "annotation": "Critical Dependence on Area in Relationship between ARMS2/HTRA1 Genotype and Faster Geographic Atrophy Enlargement: Age-Related Eye Disease Study 2 Report Number 33.", "evidence": [ { "database": "RefSeq", "id": "NP_001093137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137" }, { "database": "PubMed", "id": "37717737", "url": "https://glygen.org/publication/PubMed/37717737" } ] }, { "annotation": "Disentangling the Impact of Reticular Pseudodrusen Phenotype and the ARMS2/HTRA1 Risk Allele in Geographic Atrophy: The AREDS 2 Study Report 32.", "evidence": [ { "database": "RefSeq", "id": "NP_001093137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137" }, { "database": "PubMed", "id": "37085233", "url": "https://glygen.org/publication/PubMed/37085233" } ] }, { "annotation": "Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.", "evidence": [ { "database": "RefSeq", "id": "NP_001093137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137" }, { "database": "PubMed", "id": "16174643", "url": "https://glygen.org/publication/PubMed/16174643" } ] }, { "annotation": "Our results strongly implicate a coding change (Ala69Ser) in the LOC387715 gene as the second major identified AMD-susceptibility allele, confirming earlier suggestions. This variant's effect on AMD is statistically independent of CFH .", "evidence": [ { "database": "RefSeq", "id": "NP_001093137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137" }, { "database": "PubMed", "id": "16642439", "url": "https://glygen.org/publication/PubMed/16642439" } ] }, { "annotation": "Results further support the notion that CFH (complement factor H) and LOC387715 genes are the major risk factors for ARMD.", "evidence": [ { "database": "RefSeq", "id": "NP_001093137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137" }, { "database": "PubMed", "id": "16954704", "url": "https://glygen.org/publication/PubMed/16954704" } ] }, { "annotation": "Reticular Pseudodrusen Status, ARMS2/HTRA1 Genotype, and Geographic Atrophy Enlargement: Age-Related Eye Disease Study 2 Report 32.", "evidence": [ { "database": "RefSeq", "id": "NP_001093137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137" }, { "database": "PubMed", "id": "36481221", "url": "https://glygen.org/publication/PubMed/36481221" } ] }, { "annotation": "The Phenotypic Course of Age-Related Macular Degeneration for ARMS2/HTRA1: The EYE-RISK Consortium.", "evidence": [ { "database": "RefSeq", "id": "NP_001093137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137" }, { "database": "PubMed", "id": "35240203", "url": "https://glygen.org/publication/PubMed/35240203" } ] }, { "annotation": "This gene encodes a small secreted protein specific to primates. This protein is a component of the choroidal extracellular matrix of the eye. Mutations in this gene are associated with age-related macular degeneration. [provided by RefSeq, Sep 2017].", "evidence": [ { "database": "RefSeq", "id": "NP_001093137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137" } ] }, { "annotation": "This work we show that ARMS2 is externalized via an unconventional pathway bypassing Golgi.", "evidence": [ { "database": "RefSeq", "id": "NP_001093137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137" }, { "database": "PubMed", "id": "27270414", "url": "https://glygen.org/publication/PubMed/27270414" } ] } ], "disease": [ { "disease_id": "DOID:0110020", "recommended_name": { "id": "DOID:0110020", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110020", "name": "age related macular degeneration 8", "description": "An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26." }, "synonyms": [ { "id": "DOID:0110020", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110020", "name": "ARMD8", "description": "" }, { "id": "MONDO:0013416", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013416", "name": "age related macular degeneration 8", "description": "Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene." }, { "id": "MONDO:0013416", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013416", "name": "ARMD8", "description": "" }, { "id": "MONDO:0013416", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013416", "name": "ARMS2 age-related macular degeneration", "description": "" }, { "id": "MONDO:0013416", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013416", "name": "age related macular degeneration type 8", "description": "" }, { "id": "MONDO:0013416", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013416", "name": "age-related macular degeneration caused by mutation in ARMS2", "description": "" }, { "id": "MONDO:0013416", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013416", "name": "macular Degeneration, age-related, type 8", "description": "" }, { "id": "MONDO:0013416", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013416", "name": "macular degeneration, age-related, 8", "description": "" }, { "id": "MIM:613778", "resource": "MIM", "url": "https://www.omim.org/entry/613778", "name": "Macular degeneration, age-related, 8", "description": "Macular degeneration, age-related, 8" } ], "evidence": [ { "id": "613778", "database": "MIM", "url": "https://www.omim.org/entry/613778" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "43.8", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000254636", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254636" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000254636", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254636" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "55.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000254636", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254636" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000254636", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254636" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "50.7", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000254636", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254636" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "43.8", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000254636", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254636" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "42.27", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000254636", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254636" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "44.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000254636", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254636" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "47.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000254636", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000254636" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "P0C7Q2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7Q2" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "P0C7Q2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7Q2" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "P0C7Q2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7Q2" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "P0C7Q2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7Q2" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "P0C7Q2", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P0C7Q2" } ], "disease": [ { "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": 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age-related macular degeneration, contributing independently of complement factor H to disease risk.", "journal": "Hum. Mol. Genet.", "date": "2005", "authors": "Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH", "evidence": [ { "database": "UniProtKB", "id": "P0C7Q2", "url": "https://www.uniprot.org/uniprot/P0C7Q2" }, { "database": "RefSeq", "id": "NP_001093137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137" } ], "reference": [ { "type": "PubMed", "id": "16174643", "url": "https://glygen.org/publication/PubMed/16174643" } ] }, { "title": "Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration.", "journal": "Am. J. Hum. Genet.", "date": "2006", "authors": "Schmidt S, Hauser MA, Scott WK, Postel EA, Agarwal A, Gallins P, Wong F, Chen YS, Spencer K, Schnetz-Boutaud N, Haines JL, Pericak-Vance MA", "evidence": [ { "database": "UniProtKB", "id": "P0C7Q2", "url": "https://www.uniprot.org/uniprot/P0C7Q2" }, { "database": "RefSeq", "id": "NP_001093137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137" } ], "reference": [ { "type": "PubMed", "id": "16642439", "url": "https://glygen.org/publication/PubMed/16642439" } ] }, { "title": "Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration.", "journal": "Nat. Genet.", "date": "2006", "authors": "Maller Julian, George Sarah, Purcell Shaun, Fagerness Jes, Altshuler David, Daly Mark J, Seddon Johanna M", "evidence": [ { "database": "UniProtKB", "id": "P0C7Q2", "url": "https://www.uniprot.org/uniprot/P0C7Q2" } ], "reference": [ { "type": "PubMed", "id": "16936732", "url": "https://glygen.org/publication/PubMed/16936732" } ] }, { "title": "Further support for the common variants in complement factor H (Y402H) and LOC387715 (A69S) genes as major risk factors for the exudative age-related macular degeneration.", "journal": "Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde", "date": "2006", "authors": "Shastry BS", "evidence": [ { "database": "RefSeq", "id": "NP_001093137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137" } ], "reference": [ { "type": "PubMed", "id": "16954704", "url": "https://glygen.org/publication/PubMed/16954704" } ] }, { "title": "CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses.", "journal": "Hum. Mol. Genet.", "date": "2006", "authors": "Conley Yvette P, Jakobsdottir Johanna, Mah Tammy, Weeks Daniel E, Klein Ronald, Kuller Lewis, Ferrell Robert E, Gorin Michael B", "evidence": [ { "database": "UniProtKB", "id": "P0C7Q2", "url": "https://www.uniprot.org/uniprot/P0C7Q2" } ], "reference": [ { "type": "PubMed", "id": "17000705", "url": "https://glygen.org/publication/PubMed/17000705" } ] }, { "title": "HTRA1 promoter polymorphism in wet age-related macular degeneration.", "journal": "Science", "date": "2006", "authors": "Dewan Andrew, Liu Mugen, Hartman Stephen, Zhang Samuel Shao-Min, Liu David T L, Zhao Connie, Tam Pancy O S, Chan Wai Man, Lam Dennis S C, Snyder Michael, Barnstable Colin, Pang Chi Pui, Hoh Josephine", "evidence": [ { "database": "UniProtKB", "id": "P0C7Q2", "url": "https://www.uniprot.org/uniprot/P0C7Q2" } ], "reference": [ { "type": "PubMed", "id": "17053108", "url": "https://glygen.org/publication/PubMed/17053108" } ] }, { "title": "A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors.", "journal": "Arch. Ophthalmol.", "date": "2007", "authors": "Schaumberg Debra A, Hankinson Susan E, Guo Qun, Rimm Eric, Hunter David J", "evidence": [ { "database": "UniProtKB", "id": "P0C7Q2", "url": "https://www.uniprot.org/uniprot/P0C7Q2" } ], "reference": [ { "type": "PubMed", "id": "17210852", "url": "https://glygen.org/publication/PubMed/17210852" } ] }, { "title": "Expression of recombinant protein encoded by LOC387715 in Escherichia coli.", "journal": "Protein Expr. Purif.", "date": "2007", "authors": "Chen Dequan, Langford Marlyn P, Duggan Chris, Madden Benjamin J, Edwards Albert O", "evidence": [ { "database": "UniProtKB", "id": "P0C7Q2", "url": "https://www.uniprot.org/uniprot/P0C7Q2" } ], "reference": [ { "type": "PubMed", "id": "17485225", "url": "https://glygen.org/publication/PubMed/17485225" } ] }, { "title": "The LOC387715 polymorphism, inflammatory markers, smoking, and age-related macular degeneration. A population-based case-control study.", "journal": "Ophthalmology", "date": "2008", "authors": "Wang Jie Jin, Ross Robert J, Tuo Jingsheng, Burlutsky George, Tan Ava G, Chan Chi-Chao, Favaloro Emmanuel J, Williams Andrew, Mitchell Paul", "evidence": [ { "database": "UniProtKB", "id": "P0C7Q2", "url": "https://www.uniprot.org/uniprot/P0C7Q2" } ], "reference": [ { "type": "PubMed", "id": "17675241", "url": "https://glygen.org/publication/PubMed/17675241" } ] }, { "title": "A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "2007", "authors": "Kanda Atsuhiro, Chen Wei, Othman Mohammad, Branham Kari E H, Brooks Matthew, Khanna Ritu, He Shirley, Lyons Robert, Abecasis Gon\u00e7alo R, Swaroop Anand", "evidence": [ { "database": "UniProtKB", "id": "P0C7Q2", "url": "https://www.uniprot.org/uniprot/P0C7Q2" } ], "reference": [ { "type": "PubMed", "id": "17884985", "url": "https://glygen.org/publication/PubMed/17884985" } ] }, { "title": "CFH and LOC387715/ARMS2 genotypes and treatment with antioxidants and zinc for age-related macular degeneration.", "journal": "Ophthalmology", "date": "2008", "authors": "Klein Michael L, Francis Peter J, Rosner Bernard, Reynolds Robyn, Hamon Sara C, Schultz Dennis W, Ott Jurg, Seddon Johanna M", "evidence": [ { "database": "UniProtKB", "id": "P0C7Q2", "url": "https://www.uniprot.org/uniprot/P0C7Q2" } ], "reference": [ { "type": "PubMed", "id": "18423869", "url": "https://glygen.org/publication/PubMed/18423869" } ] }, { "title": "Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients.", "journal": "Invest. Ophthalmol. Vis. Sci.", "date": "2008", "authors": "Kaur Inderjeet, Katta Saritha, Hussain Avid, Hussain Nazimul, Mathai Annie, Narayanan Raja, Hussain Anjli, Reddy Rajeev K, Majji Ajit B, Das Taraprasad, Chakrabarti Subhabrata", "evidence": [ { "database": "UniProtKB", "id": "P0C7Q2", "url": "https://www.uniprot.org/uniprot/P0C7Q2" } ], "reference": [ { "type": "PubMed", "id": "18436811", "url": "https://glygen.org/publication/PubMed/18436811" } ] }, { "title": "Age-related macular degeneration genetics.", "journal": "Ophthalmology", "date": "2008", "authors": "Recalde Sergio, Fernandez-Robredo Patricia, Altarriba Maria, Salinas-Alaman Angel, Garc\u00eda-Layana Alfredo", "evidence": [ { "database": "UniProtKB", "id": "P0C7Q2", "url": "https://www.uniprot.org/uniprot/P0C7Q2" } ], "reference": [ { "type": "PubMed", "id": "18452766", "url": "https://glygen.org/publication/PubMed/18452766" } ] }, { "title": "Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.", "journal": "Nat. Genet.", "date": "2008", "authors": "Fritsche Lars G, Loenhardt Thomas, Janssen Andreas, Fisher Sheila A, Rivera Andrea, Keilhauer Claudia N, Weber Bernhard H F", "evidence": [ { "database": "UniProtKB", "id": "P0C7Q2", "url": "https://www.uniprot.org/uniprot/P0C7Q2" } ], "reference": [ { "type": "PubMed", "id": "18511946", "url": "https://glygen.org/publication/PubMed/18511946" } ] }, { "title": "Localization of age-related macular degeneration-associated ARMS2 in cytosol, not mitochondria.", "journal": "Invest. Ophthalmol. Vis. Sci.", "date": "2009", "authors": "Wang Gaofeng, Spencer Kylee L, Court Brenda L, Olson Lana M, Scott William K, Haines Jonathan L, Pericak-Vance Margaret A", "evidence": [ { "database": "UniProtKB", "id": "P0C7Q2", "url": "https://www.uniprot.org/uniprot/P0C7Q2" } ], "reference": [ { "type": "PubMed", "id": "19255159", "url": "https://glygen.org/publication/PubMed/19255159" } ] }, { "title": "The unconventional secretion of ARMS2.", "journal": "Human molecular genetics", "date": "2016", "authors": "Kortvely E, Hauck SM, Behler J, Ho N, Ueffing M", "evidence": [ { "database": "RefSeq", "id": "NP_001093137", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001093137" } ], "reference": [ { "type": "PubMed", "id": "27270414", "url": "https://glygen.org/publication/PubMed/27270414" } ] }, { "title": "The Phenotypic Course of Age-Related Macular Degeneration for ARMS2/HTRA1: The EYE-RISK Consortium.", "journal": "Ophthalmology", "date": "2022", "authors": "Thee EF, Colijn JM, 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