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 100 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

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

  61. NM_017838.3(NHP2):c.415T>C (p.Tyr139His) AND Dyskeratosis congenita, autosomal recessive 2

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

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

    Type: Variation

    Species: human

  81. NM_032583.3(ABCC11):c.538G>A (p.Gly180Arg) AND Axillary odor

    Type: Variation

    Species: human

  82. NM_001031717.3(CRELD1):c.484C>G (p.Pro162Ala) AND Atrioventricular septal defect 2

    Type: Variation

    Species: human

  83. NM_001042432.1(CLN3):c.597C>A (p.Tyr199Ter) AND Ceroid lipofuscinosis, neuronal, 3, protracted

    Type: Variation

    Species: human

  84. NM_000280.4(PAX6):c.1171A>G (p.Thr391Ala) AND Optic nerve aplasia, bilateral

    Type: Variation

    Species: human

  85. IVD, 90-BP DEL, NT145 AND Isovaleric acidemia, type II

    Type: Variation

    Species: human

  86. NM_001031717.3(CRELD1):c.320G>A (p.Arg107His) AND Atrioventricular septal defect, partial, with heterotaxy syndrome

    Type: Variation

    Species: human

  87. NM_005957.4(MTHFR):c.971A>G (p.Asn324Ser) AND Homocystinuria due to MTHFR deficiency

    Type: Variation

    Species: human

  88. NM_144585.3(SLC22A12):c.894G>T (p.Glu298Asp) AND Familial renal hypouricemia

    Type: Variation

    Species: human

  89. NM_000135.2(FANCA):c.894_1006del113 (p.Trp298Cysfs) AND Fanconi anemia, complementation group A

    Type: Variation

    Species: human

  90. NM_000135.2(FANCA):c.513G>A (p.Trp171Ter) AND Fanconi anemia, complementation group A

    Type: Variation

    Species: human

  91. NM_144585.3(SLC22A12):c.1253T>G (p.Leu418Arg) AND Familial renal hypouricemia

    Type: Variation

    Species: human

  92. NM_005957.4(MTHFR):c.1129C>T (p.Arg377Cys) AND Homocystinuria due to MTHFR deficiency

    Type: Variation

    Species: human

  93. NM_004993.5(ATXN3):c.892_894CAG(8_36) (p.Gln298_Gln305=) AND Parkinson disease, late-onset

    Type: Variation

    Species: human

  94. NM_018319.3(TDP1):c.1478A>G (p.His493Arg) AND Spinocerebellar ataxia autosomal recessive with axonal neuropathy

    Type: Variation

    Species: human

  95. NM_130849.3(SLC39A4):c.318C>A (p.Asn106Lys) AND Hereditary acrodermatitis enteropathica

    Type: Variation

    Species: human

  96. NM_024426.4(WT1):c.1333C>T (p.His445Tyr) AND Diffuse mesangial sclerosis

    Type: Variation

    Species: human

  97. NM_001008216.1(GALE):c.937C>A (p.Leu313Met) AND UDPglucose-4-epimerase deficiency

    Type: Variation

    Species: human

  98. TRPM6, IVS23AS, A-G, -68 AND Hypomagnesemia 1, intestinal

    Type: Variation

    Species: human

  99. NM_016169.3(SUFU):c.71delC (p.Pro24Argfs) AND Medulloblastoma with extensive nodularity

    Type: Variation

    Species: human

  100. NM_017662.4(TRPM6):c.166C>T (p.Arg56Ter) AND Hypomagnesemia 1, intestinal

    Type: Variation

    Species: human


Displaying 100 of 209,107 results for " "