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Displaying 20 of 209,107 results for " "
  1. NM_000520.5(HEXA):c.1495C>T (p.Arg499Cys) AND Gm2-gangliosidosis, adult-onset

    Type: Variation

    Species: human

  2. NM_000372.4(TYR):c.707G>A (p.Trp236Ter) AND Tyrosinase-negative oculocutaneous albinism

    Type: Variation

    Species: human

  3. NM_000520.5(HEXA):c.805+1G>A AND Gm2-gangliosidosis, late onset

    Type: Variation

    Species: human

  4. IRAK4, 2-BP DEL, 620AC AND IRAK4 deficiency

    Type: Variation

    Species: human

  5. ALMS1, 19-BP INS AND Alstrom syndrome

    Type: Variation

    Species: human

  6. NM_006623.3(PHGDH):c.781G>A (p.Val261Met) AND Phosphoglycerate dehydrogenase deficiency

    Type: Variation

    Species: human

  7. NM_000520.5(HEXA):c.533G>A (p.Arg178His) AND Hexa, dn allele

    Type: Variation

    Species: human

  8. NM_000456.2(SUOX):c.650G>A (p.Arg217Gln) AND Sulfite oxidase deficiency, isolated

    Type: Variation

    Species: human

  9. NM_000081.3(LYST):c.148C>T (p.Arg50Ter) AND Chediak-Higashi syndrome, childhood type

    Type: Variation

    Species: human

  10. NM_000017.3(ACADS):c.268G>A (p.Gly90Ser) AND Deficiency of butyryl-CoA dehydrogenase

    Type: Variation

    Species: human

  11. HEXB, 1-BP DEL, 965T AND Sandhoff disease, infantile

    Type: Variation

    Species: human

  12. NM_000520.5(HEXA):c.962_964delGAG (p.Gly321del) AND Tay-Sachs disease, B1 variant

    Type: Variation

    Species: human

  13. NM_000372.4(TYR):c.140G>A (p.Gly47Asp) AND Oculocutaneous albinism type 1B

    Type: Variation

    Species: human

  14. NM_000372.4(TYR):c.1A>G (p.Met1Val) AND Oculocutaneous albinism type 1B

    Type: Variation

    Species: human

  15. NM_017882.2(CLN6):c.268_271dupAACG (p.Val91Glufs) AND Ceroid lipofuscinosis neuronal 6

    Type: Variation

    Species: human

  16. NM_001243766.1(POMGNT1):c.1469G>A (p.Cys490Tyr) AND Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3

    Type: Variation

    Species: human

  17. NM_000144.4(FXN):c.165+1340_165+1357GAA[6] AND Friedreich ataxia with retained reflexes

    Type: Variation

    Species: human

  18. NM_017433.4(MYO3A):c.3129T>G (p.Tyr1043Ter) AND Deafness, autosomal recessive 30

    Type: Variation

    Species: human

  19. NM_016335.4(PRODH):c.1562A>G (p.Gln521Arg) AND Proline dehydrogenase deficiency

    Type: Variation

    Species: human

  20. TPO, 1-BP DEL, 1496C AND Deficiency of iodide peroxidase

    Type: Variation

    Species: human


Displaying 20 of 209,107 results for " "