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Is a centralized resource for cross-referenced information on disease mutations enriched in the Finnish population. FinDis provides up-to-date information on the 36 monogenic diseases belonging to the Finnish disease heritage. For each disease, this resource provides:. Prevalence or incidence and a short description of clinical symptoms. Genetic locus and a molecular description for identified mutations. Disease allele frequencies typically reported for Finnish mutations. Read About the FinDis project.

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FinDis - Home | findis.org Reviews

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Is a centralized resource for cross-referenced information on disease mutations enriched in the Finnish population. FinDis provides up-to-date information on the 36 monogenic diseases belonging to the Finnish disease heritage. For each disease, this resource provides:. Prevalence or incidence and a short description of clinical symptoms. Genetic locus and a molecular description for identified mutations. Disease allele frequencies typically reported for Finnish mutations. Read About the FinDis project.

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FinDis - Home | findis.org Reviews

https://findis.org

Is a centralized resource for cross-referenced information on disease mutations enriched in the Finnish population. FinDis provides up-to-date information on the 36 monogenic diseases belonging to the Finnish disease heritage. For each disease, this resource provides:. Prevalence or incidence and a short description of clinical symptoms. Genetic locus and a molecular description for identified mutations. Disease allele frequencies typically reported for Finnish mutations. Read About the FinDis project.

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findis.org

1

FinDis - Genes

http://www.findis.org/genes.html

BC1 (ubiquinol-cytochrome c reductase) synthesis-like. Chromosome 10 open reading frame 2. Coiled-coil and C2 domains-containing protein 2A. Centrosomal protein, 290-KD. Ceroid-lipofuscinosis, neuronal 3. Ceroid-lipofuscinosis, neuronal 5. Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation). Vacuolar protein sorting 13 homolog B (yeast). TYRO protein tyrosine kinase binding protein (DAP12). Follicle stimulating hormone receptor. Glycine cleavage system H protein.

2

FinDis - Home

http://www.findis.org/index.html

Is a centralized resource for cross-referenced information on disease mutations enriched in the Finnish population. FinDis provides up-to-date information on the 36 monogenic diseases belonging to the Finnish disease heritage. For each disease, this resource provides:. Prevalence or incidence and a short description of clinical symptoms. Genetic locus and a molecular description for identified mutations. Disease allele frequencies typically reported for Finnish mutations. Read About the FinDis project.

3

FinDis - Links

http://www.findis.org/links.html

Disease and Mutations Databases. Human Gene Mutation Database (HGMD). Http:/ hgmd.cf.ac.uk/ac/index.php. Human Genome Variation Society (HGVS). Leiden Open Variation Database (LOVD). Locus Referece Genomic (LRG). Http:/ www.ncbi.nlm.nih.gov/omim/. Http:/ www.ncbi.nlm.nih.gov/snp/. Disease and Mutation Databases. Eye Diseases - Ornithine aminotransferase (OAT) mutation database. Http:/ grenada.lumc.nl/LOVD2/eye/home.php? AIREbase - Mutation registries for APECED. NCL Resource - A gateway for Batten disease.

4

FinDis - About FinDis

http://www.findis.org/about.html

About the Finnish Disease Database project. FinDis provides up-to-date information on 36 monogenic diseases belonging to the Finnish disease heritage. The target audience of the database is researchers and clinicians working in this field. Information for the database has been gathered from researchers, original and review publications, and reliable websites. The database follows the Quality Criteria for Health Related Websites recommended by the European Commission. Whose group established a centralized...

5

FinDis - Diseases

http://www.findis.org/diseases.html

Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia. Diarrhea 1, secretory chloride, congenital. Lactase deficiency, congenital. Nephrotic syndrome, type 1; Synonym: Finnish congenital nephrosis. Amyloidosis, Finnish type. Ceroid lipofuscinosis, neuronal, 5. Gyrate atrophy of choroid and retina. Ceroid lipofuscinosis, neuronal, 1. Infantile-onset spinocerebellar ataxia (Mitochondrial DNA depletion syndrome 7). Lethal congenital contracture syndrome 1. Under gr...

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genetics-db.neu.edu.tr

Useful Links | NEU-GMD Beta

http://genetics-db.neu.edu.tr/links

Links to other important databases. Human Gene Mutation Database (HGMD). Human Genome Variation Society (HGVS). Leiden Open Variation Database (LOVD). Locus Referece Genomic (LRG). National Human Genome Research Institute. Office of Rare Diseases (National Institutes of Health). Centre for Arab genomic studies. OrphaNet (information on rare diseases and orphan drugs). Pasteur Institute of Iran. Public Health Genetics Unit (The Cambridge Genetics Knowledge Park). Disease and Mutation Databases.

fingerlakesfinns.org

Sites of Interest

http://www.fingerlakesfinns.org/links.htm

Other Sites of Interest. All of the links below will. Link is new or changed since this page was last revised. Where available, links go to the English language version. Finnish Ministry of Foreign Affairs. A window on Finland. Info for living in Finland. Finland Heritage Museum (Ohio). Minnesota Finnish Pages / Suomi-sivut. St Urho: Legendary Patron Saint of Finland. The Finnish Center at Saima Park. History and cultural notes. The Finnish Heritage House. Journal of Finnish Culture Worldwide.

harvinaiset.fi

Perinnöllisyys | Harvinaiset-verkosto

http://www.harvinaiset.fi/perinnollisyys

Järjestöjen yhteistyötä harvinaisten sairaus- ja vammaryhmien hyväksi. Harvinaisia sairauksia ja vammoja. Kansainvälistä tietoa ja tukea. Valtaosa harvinaisista sairauksista ja vammoista johtuu perimän poikkeavuuksista. Periytymistapa määrittää, miten sairaus tai vammaisuus ilmenee suvussa tai perheessä. Perinnöllisyyttä voidaan tutkia kromosomi- tai geenitutkimuksin. Kirjoittaja: Riitta Salonen-Kajander, LKT, dos., perinnöllisyyslääketieteen erikoislääkäri (2013). Http:/ www.norio-keskus.fi/fi/p...FinDi...

kcclements.net

Finnish Websites – kcclements.net

http://kcclements.net/finnish-websites

Here are some of the Websites I have used to find my Family:. Finland Family History Association:. Finland Genealogy Society Hiski:. Archives: Repositories of Primary Sources. Terms and Abbreviations found in the Hiski:. List from Finland and Scandinavia. Finnish Surname Navigator 1. Finnish Surname Navigator 2. How to view the Genealogy files. Esaias & Liisa Johnson aka. Hyyppa. Elias Heikki & Anna Kaisa Helbacka. 6 visitors online now. Proudly powered by WordPress.

nationalbiobanks.fi

Links

http://www.nationalbiobanks.fi/index.php/links

Published on Tuesday, 12 June 2012 22:18. Written by Super User. HealthBio Biotech competence cluster. OECD Guidelines for Human Biobanks and Genetic Research Databases (HBGRDs)-pdf. Kansalliset eettiset neuvottelukunnat 2008: Biopankit ja me. 2008, Helsinki.

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FinDis - Home

Is a centralized resource for cross-referenced information on disease mutations enriched in the Finnish population. FinDis provides up-to-date information on the 36 monogenic diseases belonging to the Finnish disease heritage. For each disease, this resource provides:. Prevalence or incidence and a short description of clinical symptoms. Genetic locus and a molecular description for identified mutations. Disease allele frequencies typically reported for Finnish mutations. Read About the FinDis project.

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