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- source_evidence_literature type ECO_0000212 NP1081075.RA-qypAoLYaPsE1dCBqL61y8pttA2MT_QrKHhuAE5VQWo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP1081075.RA-qypAoLYaPsE1dCBqL61y8pttA2MT_QrKHhuAE5VQWo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP1081075.RA-qypAoLYaPsE1dCBqL61y8pttA2MT_QrKHhuAE5VQWo130_provenance.
- NP1081075.RA-qypAoLYaPsE1dCBqL61y8pttA2MT_QrKHhuAE5VQWo130_assertion description "[The autoinflammatory diseases can be grouped based on clinical findings: 1. the three classic hereditary periodic fever syndromes, familial Mediterranean Fever (FMF); TNF receptor associated periodic syndrome (TRAPS); and mevalonate kinase deficiency/hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); 2. the cryopyrin associated periodic syndromes (CAPS), comprising familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and neonatal-onset multisystem inflammatory disease (NOMID) or CINCA, and; 3. pediatric granulomatous arthritis (PGA); 4. disorders presenting with skin pustules, including deficiency of interleukin 1 receptor antagonist (DIRA); Majeed syndrome; pyogenic arthritis, pyoderma gangrenosum and acne (PAPA) syndrome; deficiency of interleukin 36 receptor antagonist (DITRA); CARD14 mediated psoriasis (CAMPS), and early-onset inflammatory bowel diseases (EO-IBD); 5. inflammatory disorders caused by mutations in proteasome components, the proteasome associated autoinflammatory syndromes (PRAAS) and 6. very rare conditions presenting with autoinflammation and immunodeficiency.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1081075.RA-qypAoLYaPsE1dCBqL61y8pttA2MT_QrKHhuAE5VQWo130_provenance.
- NP1081075.RA-qypAoLYaPsE1dCBqL61y8pttA2MT_QrKHhuAE5VQWo130_assertion evidence source_evidence_literature NP1081075.RA-qypAoLYaPsE1dCBqL61y8pttA2MT_QrKHhuAE5VQWo130_provenance.
- NP1081075.RA-qypAoLYaPsE1dCBqL61y8pttA2MT_QrKHhuAE5VQWo130_assertion SIO_000772 23711932 NP1081075.RA-qypAoLYaPsE1dCBqL61y8pttA2MT_QrKHhuAE5VQWo130_provenance.
- NP1081075.RA-qypAoLYaPsE1dCBqL61y8pttA2MT_QrKHhuAE5VQWo130_assertion wasDerivedFrom befree-2016 NP1081075.RA-qypAoLYaPsE1dCBqL61y8pttA2MT_QrKHhuAE5VQWo130_provenance.
- NP1081075.RA-qypAoLYaPsE1dCBqL61y8pttA2MT_QrKHhuAE5VQWo130_assertion wasGeneratedBy ECO_0000203 NP1081075.RA-qypAoLYaPsE1dCBqL61y8pttA2MT_QrKHhuAE5VQWo130_provenance.
- befree-2016 importedOn "2016-02-19" NP1081075.RA-qypAoLYaPsE1dCBqL61y8pttA2MT_QrKHhuAE5VQWo130_provenance.