Details of Disease

General Information of Disease (ID: DIS77ACK)

• Disease Name: Rheumatic disorder
• Synonyms: collagen vascular disease; inflammatory rheumatism; diseases, rheumatic; disease, rheumatic; connective tissue disease; enthesopathy; collagen disease; enthesopathies; rheumatism; musculoskeletal pain disorder; rheumatic disease; rheumatologic disorder
• Definition: Inflammatory and degenerative diseases of connective tissue structures, such as arthritis.|This is an umbrella term encompassing conditions causing chronic, often intermittent pain affecting the joints and/or connective tissue
• Disease Hierarchy:
  DISKXBS3: Connective tissue disorder
  DIS77ACK: Rheumatic disorder
• Disease Identifiers:
  MONDO ID: MONDO_0005554
  MESH ID: D003095
  UMLS CUI: C0009326
  MedGen ID: 3157
  SNOMED CT ID: 81573002

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Indomethacin	DMSC4A7	Approved	Small molecular drug	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CMKLR1	TT4UGZL	Limited	Altered Expression	[2]
IRAK3	TTBPJOK	Limited	Genetic Variation	[3]
COL1A2	TTUABC1	Strong	Biomarker	[4]
ERAP1	TT60XFL	Strong	Biomarker	[5]

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS2	OTTK22NO	Limited	Genetic Variation	[6]
C2	OTHMF4YM	Limited	Biomarker	[7]
FAM167A	OT9JF3JQ	Limited	Genetic Variation	[8]
GRK6	OT4LZTP9	Limited	Biomarker	[2]
TNP1	OTKQH7E5	Limited	Biomarker	[9]

References

• [1] Indomethacin FDA Label
• [2] Chemerin-activated functions of CMKLR1 are regulated by G protein-coupled receptor kinase 6 (GRK6) and -arrestin 2 in inflammatory macrophages.Mol Immunol. 2019 Feb;106:12-21. doi: 10.1016/j.molimm.2018.12.016. Epub 2018 Dec 18.
• [3] Confirmation of an IRAK3 polymorphism as a genetic marker predicting response to anti-TNF treatment in rheumatoid arthritis.Pharmacogenomics J. 2018 Jan;18(1):81-86. doi: 10.1038/tpj.2016.66. Epub 2016 Oct 4.
• [4] Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene.Am J Med Genet A. 2015 Aug;167A(8):1763-72. doi: 10.1002/ajmg.a.37081. Epub 2015 Apr 5.
• [5] Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics.Curr Opin Rheumatol. 2015 Jul;27(4):349-56. doi: 10.1097/BOR.0000000000000189.
• [6] Abnormal dentin structure in two novel gene mutations [COL1A1, Arg134Cys] and [ADAMTS2, Trp795-to-ter] causing rare type I collagen disorders.Arch Oral Biol. 2007 Feb;52(2):101-9. doi: 10.1016/j.archoralbio.2006.08.007. Epub 2006 Nov 21.
• [7] Inherited deficiency of the second component of complement. Rheumatic disease associations.J Clin Invest. 1976 Oct;58(4):853-61. doi: 10.1172/JCI108538.
• [8] The rheumatic disease-associated FAM167A-BLK locus encodes DIORA-1, a novel disordered protein expressed highly in bronchial epithelium and alveolar macrophages.Clin Exp Immunol. 2018 Aug;193(2):167-177. doi: 10.1111/cei.13138. Epub 2018 May 16.
• [9] Linkage of rheumatoid arthritis to the candidate gene NRAMP1 on 2q35.J Med Genet. 1996 Aug;33(8):672-7. doi: 10.1136/jmg.33.8.672.