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Displaying 50 of 209,107 results for " "
  1. NM_000229.1(LCAT):c.440C>T (p.Thr147Ile) AND Fish-eye disease

    Type: Variation

    Species: human

  2. NM_000375.2(UROS):c.10C>T (p.Leu4Phe) AND Congenital erythropoietic porphyria

    Type: Variation

    Species: human

  3. NM_000155.3(GALT):c.580T>C (p.Phe194Leu) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

  4. NM_000155.3(GALT):c.130G>A (p.Val44Met) AND Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase

  5. MPO, -463G-A AND Alzheimer disease, susceptibility to

    Type: Variation

    Species: human

  6. TRPM6, 1-BP DEL, 2207G AND Hypomagnesemia 1, intestinal

    Type: Variation

    Species: human

  7. COG1, IVS6DS, G-A, +5 AND Congenital disorder of glycosylation type 2G

    Type: Variation

    Species: human

  8. NM_000375.2(UROS):c.-26-197C>A AND Congenital erythropoietic porphyria

    Type: Variation

    Species: human

  9. NM_000250.1(MPO):c.2031-2A>C AND Myeloperoxidase deficiency

    Species: human

  10. NM_000372.4(TYR):c.1217C>T (p.Pro406Leu) AND Oculocutaneous albinism type 1B

    Type: Variation

    Species: human

  11. NM_000372.4(TYR):c.1147G>A (p.Asp383Asn) AND Tyrosinase-negative oculocutaneous albinism

  12. NM_000229.1(LCAT):c.475C>T (p.Arg159Trp) AND Norum disease

    Type: Variation

    Species: human

  13. COG4, 400-KB DEL AND Congenital disorder of glycosylation type 2J

    Type: Variation

    Species: human

  14. NM_000375.2(UROS):c.243A>T (p.Glu81Asp) AND Congenital erythropoietic porphyria

    Type: Variation

    Species: human

  15. NM_000372.4(TYR):c.1205G>A (p.Arg402Gln) AND Skin/hair/eye pigmentation 3, blue/green eyes

    Type: Variation

    Species: human

  16. NM_000062.2(SERPING1):c.1372G>A (p.Ala458Thr) AND Hereditary C1 esterase inhibitor deficiency - dysfunctional factor

    Type: Variation

    Species: human

  17. GALC, 30-KB DEL, IVS10 AND Galactosylceramide beta-galactosidase deficiency

    Type: Variation

    Species: human

  18. NM_000372.4(TYR):c.732_733delTG (p.Cys244Terfs) AND Tyrosinase-negative oculocutaneous albinism

  19. NM_006623.3(PHGDH):c.1129G>A (p.Gly377Ser) AND Phosphoglycerate dehydrogenase deficiency

    Type: Variation

    Species: human

  20. NM_000372.4(TYR):c.1112A>C (p.Asn371Thr) AND Tyrosinase-negative oculocutaneous albinism

    Type: Variation

    Species: human

  21. NM_000520.5(HEXA):c.1495C>T (p.Arg499Cys) AND Gm2-gangliosidosis, adult-onset

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

  25. ALMS1, 19-BP INS AND Alstrom syndrome

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

  41. NG_015833.1:g.57807_94706del36900 AND Breast adenocarcinoma

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

  45. 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

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human


Displaying 50 of 209,107 results for " "