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Displaying 20 of 209,107 results for " "
  1. NM_017838.3(NHP2):c.415T>C (p.Tyr139His) AND Dyskeratosis congenita, autosomal recessive 2

    Type: Variation

    Species: human

  2. TREX1, 1-BP INS, 3688G AND Vasculopathy, retinal, with cerebral leukodystrophy

    Type: Variation

    Species: human

  3. NM_016327.2(UPB1):c.105-2A>G AND Deficiency of beta-ureidopropionase

    Type: Variation

    Species: human

  4. NM_031889.2(ENAM):c.1259_1260insAG (p.Pro422Valfs) AND Amelogenesis imperfecta, type IC

  5. NM_138694.3(PKHD1):c.8011C>T (p.Arg2671Ter) AND Polycystic kidney disease, infantile type

    Type: Variation

    Species: human

  6. NM_002772.2(TMPRSS15):c.2135C>G (p.Ser712Ter) AND Enterokinase deficiency

    Type: Variation

    Species: human

  7. NM_001033053.2(NLRP1):c.464T>A (p.Leu155His) AND Vitiligo-associated multiple autoimmune disease susceptibility 1

    Type: Variation

    Species: human

  8. NM_014140.3(SMARCAL1):c.1756C>T (p.Arg586Trp) AND Schimke immunoosseous dysplasia

    Type: Variation

    Species: human

  9. NM_001034116.1(EIF2B4):c.1191+1G>A AND Leukoencephalopathy with vanishing white matter

    Type: Variation

    Species: human

  10. NM_138694.3(PKHD1):c.5221G>A (p.Val1741Met) AND Polycystic kidney disease, infantile type

    Type: Variation

    Species: human

  11. NM_138691.2(TMC1):c.100C>T (p.Arg34Ter) AND Deafness, autosomal recessive 7

  12. NM_021020.3(LZTS1):c.85T>C (p.Ser29Pro) AND Esophageal squamous cell carcinoma, somatic

    Type: Variation

    Species: human

  13. GDAP1, 1-BP INS, 863A AND Neuropathy, axonal, with vocal cord paresis, autosomal recessive

    Type: Variation

    Species: human

  14. NM_001414.3(EIF2B1):c.622A>T (p.Asn208Tyr) AND Leukoencephalopathy with vanishing white matter

    Type: Variation

    Species: human

  15. NM_138691.2(TMC1):c.1714G>C (p.Asp572His) AND Deafness, autosomal dominant 36

    Type: Variation

    Species: human

  16. NM_130849.3(SLC39A4):c.909G>C (p.Gln303His) AND Hereditary acrodermatitis enteropathica

    Type: Variation

    Species: human

  17. NM_001077415.2(CRELD1):c.1240G>A (p.Glu414Lys) AND Atrioventricular septal defect 2

    Type: Variation

    Species: human

  18. NM_016247.3(IMPG2):c.635C>G (p.Ser212Ter) AND Retinitis pigmentosa 56

    Type: Variation

    Species: human

  19. NM_000280.4(PAX6):c.191G>T (p.Gly64Val) AND Foveal hypoplasia 1 with cataract

    Type: Variation

    Species: human

  20. NM_000135.2(FANCA):c.3720_3724delAAACA (p.Glu1240Aspfs) AND Fanconi anemia, complementation group A

    Type: Variation

    Species: human


Displaying 20 of 209,107 results for " "