DataMed | bioCADDIE Data Discovery Index
Mountain View
biomedical and healthCAre Data Discovery Index Ecosystem
help Advanced Search

Feedback?

If you are having problems using our tools, or if you would just like to send us some feedback, please post your questions on GitHub.

Displaying 20 of 209,107 results for " "
  1. NG_015833.1:g.57807_94706del36900 AND Breast adenocarcinoma

    Type: Variation

    Species: human

  2. NM_000112.3(SLC26A2):c.2144C>T (p.Ala715Val) AND Atelosteogenesis type 2

    Type: Variation

    Species: human

  3. NM_012464.4(TLL1):c.1885A>G (p.Ile629Val) AND Atrial septal defect 6

    Type: Variation

    Species: human

  4. TPO, 20-BP DUP AND Deficiency of iodide peroxidase

    Type: Variation

    Species: human

  5. NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) AND Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3

    Type: Variation

    Species: human

  6. NC_000022.11:g.(?_18906222)_(18936553_?)del AND Schizophrenia 4

    Type: Variation

    Species: human

  7. NM_000112.3(SLC26A2):c.1361A>C (p.Gln454Pro) AND Diastrophic dysplasia, broad bone-platyspondylic variant

    Type: Variation

    Species: human

  8. NM_000152.4(GAA):c.896T>G (p.Leu299Arg) AND Glycogen storage disease type II, infantile

    Type: Variation

    Species: human

  9. NM_017739.3(POMGNT1):c.652+1G>A AND Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3

    Type: Variation

    Species: human

  10. NM_014080.4(DUOX2):c.1300C>T (p.Arg434Ter) AND Thyroid dyshormonogenesis 6

    Type: Variation

    Species: human

  11. NM_000144.4(FXN):c.517T>G (p.Trp173Gly) AND Friedreich's ataxia

    Type: Variation

    Species: human

  12. NM_000112.3(SLC26A2):c.1724delA (p.Lys575Serfs) AND Atelosteogenesis type 2

    Type: Variation

    Species: human

  13. NM_016335.4(PRODH):c.1322T>C (p.Leu441Pro) AND Schizophrenia 4

    Type: Variation

    Species: human

  14. NM_001080467.2(MYO5B):c.1966C>T (p.Arg656Cys) AND Congenital microvillous atrophy

    Type: Variation

    Species: human

  15. NM_000173.6(GP1BA):c.1620G>A (p.Trp540Ter) AND Bernard-Soulier syndrome, type A1

    Type: Variation

    Species: human

  16. NM_000173.6(GP1BA):c.746G>T (p.Gly249Val) AND Pseudo von Willebrand disease

    Type: Variation

    Species: human

  17. NM_024301.4(FKRP):c.1213G>T (p.Val405Leu) AND Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5

    Type: Variation

    Species: human

  18. NM_033118.3(MYLK2):c.260C>T (p.Ala87Val) AND Cardiomyopathy, hypertrophic, midventricular, digenic

    Type: Variation

    Species: human

  19. GP1BA, 92-BP DUP, SER399-THR411 DUP, VARIABLE REPEATS AND Nonarteritic anterior ischemic optic neuropathy, susceptibility to

    Type: Variation

    Species: human

  20. NM_016381.5(TREX1):c.217G>A (p.Asp73Asn) AND Aicardi Goutieres syndrome 1, autosomal dominant

    Type: Variation

    Species: human


Displaying 20 of 209,107 results for " "