PhenoDis: A comprehensive database for phenotypic characterization of rare cardiac diseases

Orphanet Journal of Rare Diseases

Volumn 13, Issue 1, 2018, Pages

  Adler, Angela ^b   Kirchmeier, Pia ^a   Reinhard, Julian ^a   Brauner, Barbara ^a   Dunger, Irmtraud ^a   Fobo, Gisela ^a   Frishman, Goar ^a   Montrone, Corinna ^a   Mewes, H Werner ^a,b   Arnold, Matthias ^a   Ruepp, Andreas ^a  

^a INSTITUTE OF EPIDEMIOLOGY   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

Author keywords

Bioinformatics; Decision support systems; Genetic disorders; Genotype; Heart; Medical genetics; Personalized medicine; Phenotype; Precision medicine; Rare cardiac diseases

Indexed keywords

ARTICLE; CARDIOVASCULAR DISEASE; GENETIC ASSOCIATION; GENETIC DATABASE; GENETIC DISORDER; GENETIC VARIABILITY; GENOME IMPRINTING; GENOTYPE; HEART DISEASE; HUMAN; MEDICAL ONTOLOGY; PHENOTYPE; PREDICTION; PREVALENCE; RARE CARDIAC DISEASE; RARE DISEASE; SYMPTOM; BIOLOGY; GENETIC VARIATION; GENETICS; GENOMICS; METABOLISM; PATHOLOGY; PERSONALIZED MEDICINE; PROCEDURES;

COMPUTATIONAL BIOLOGY; DATABASES, GENETIC; GENETIC VARIATION; GENOMICS; HEART DISEASES; HUMANS; PHENOTYPE; PRECISION MEDICINE; RARE DISEASES;

EID: 85041455306     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/s13023-018-0765-y     Document Type: Article

References (23)

1. Townsend N, Wilson L, Bhatnagar P, Wickramasinghe K, Rayner M, Nichols M. Cardiovascular disease in Europe: epidemiological update 2016. Eur Heart J. 2016;37(42):3232-45.
2. Jensen PB, Jensen LJ, Brunak S. Mining electronic health records: towards better research applications and clinical care. Nat Rev Genet. 2012;13(6):395-405.
3. Piwek L, Ellis DA, Andrews S, Joinson A. The rise of consumer health Wearables: promises and barriers. PLoS Med. 2016;13(2):e1001953.
4. Amberger JS, Bocchini CA, Schiettecatte F, Scott AF, Hamosh A. OMIM.org: online Mendelian inheritance in man (OMIM(R)), an online catalog of human genes and genetic disorders. Nucleic Acids Res. 2015;43(Database issue):D789-98.
5. Rath A, Olry A, Dhombres F, Brandt MM, Urbero B, Ayme S. Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end users. Hum Mutat. 2012;33(5):803-8.
6. Lechner M, Hohn V, Brauner B, Dunger I, Fobo G, Frishman G, Montrone C, Kastenmuller G, Waegele B, Ruepp A. CIDeR: multifactorial interaction networks in human diseases. Genome Biol. 2012;13(7):R62.
7. Ruepp A, Waegele B, Lechner M, Brauner B, Dunger-Kaltenbach I, Fobo G, Frishman G, Montrone C, Mewes HW. CORUM: the comprehensive resource of mammalian protein complexes - 2009. Nucleic Acids Res. 2010;38(Database issue):D497-501.
8. Kostareva A, Kiselev A, Gudkova A, Frishman G, Ruepp A, Frishman D, Smolina N, Tarnovskaya S, Nilsson D, Zlotina A, et al. Genetic Spectrum of idiopathic restrictive Cardiomyopathy uncovered by next-generation sequencing. PLoS One. 2016;11(9):e0163362.
9. van den Hoogen F, Khanna D, Fransen J, Johnson SR, Baron M, Tyndall A, Matucci-Cerinic M, Naden RP, Medsger TA Jr, Carreira PE, et al. 2013 classification criteria for systemic sclerosis: an American College of Rheumatology/European league against rheumatism collaborative initiative. Arthritis Rheum. 2013;65(11):2737-47.
10. Makino K, Jinnin M, Makino T, Kajihara I, Fukushima S, Inoue Y, Ihn H. Serum levels of soluble carbonic anhydrase IX are decreased in patients with diffuse cutaneous systemic sclerosis compared to those with limited cutaneous systemic sclerosis. Biosci Trends. 2014;8(3):144-8.
11. Kohler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GC, Brown DL, Brudno M, Campbell J, et al. The human phenotype ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res. 2014;42(Database issue):D966-74.
12. Ashburner M, Ball CA, Blake JA, Botstein D, Butler H, Cherry JM, Davis AP, Dolinski K, Dwight SS, Eppig JT, et al. Gene ontology: tool for the unification of biology. The gene ontology consortium. Nat Genet. 2000;25(1):25-9.
13. Robinson PN, Kohler S, Bauer S, Seelow D, Horn D, Mundlos S. The human phenotype ontology: a tool for annotating and analyzing human hereditary disease. Am J Hum Genet. 2008;83(5):610-5.
14. Smedley D, Robinson PN. Phenotype-driven strategies for exome prioritization of human Mendelian disease genes. Genome Med. 2015;7(1):81.
15. Magoulas PL, El-Hattab AW. Systemic primary carnitine deficiency: an overview of clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2012;7:68.
16. Oti M, Huynen MA, Brunner HG. The biological coherence of human phenome databases. Am J Hum Genet. 2009;85(6):801-8.
17. Cerrato F, Sparago A, Verde G, De Crescenzo A, Citro V, Cubellis MV, Rinaldi MM, Boccuto L, Neri G, Magnani C, et al. Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumour. Hum Mol Genet. 2008;17(10):1427-35.
18. Arnold M, Raffler J, Pfeufer A, Suhre K, Kastenmuller G. SNiPA: an interactive, genetic variant-centered annotation browser. Bioinformatics. 2015;31(8):1334-6.
19. Landrum MJ, Lee JM, Benson M, Brown G, Chao C, Chitipiralla S, Gu B, Hart J, Hoffman D, Hoover J, et al. ClinVar: public archive of interpretations of clinically relevant variants. Nucleic Acids Res. 2016;44(D1):D862-8.
20. Sabater-Molina M, Guillen-Navarro E, Garcia-Molina E, Ballesta-Martinez MJ, Escudero F, Ruiz-Espejo F. Barth syndrome in adulthood: a clinical case. Rev Esp Cardiol. 2013;66(1):68-70.
21. Biesecker LG, Green RC. Diagnostic clinical genome and exome sequencing. N Engl J Med. 2014;371(12):1170.
22. Miller NA, Farrow EG, Gibson M, Willig LK, Twist G, Yoo B, Marrs T, Corder S, Krivohlavek L, Walter A, et al. A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases. Genome Med. 2015;7:100.
23. Kohler S, Schulz MH, Krawitz P, Bauer S, Dolken S, Ott CE, Mundlos C, Horn D, Mundlos S, Robinson PN. Clinical diagnostics in human genetics with semantic similarity searches in ontologies. Am J Hum Genet. 2009;85(4):457-64.