Links

  • Gene
  • SNP
  • miRNA
  • CNV
  • CpG

  • PolyPHEN-SIFT
    Prediction
  • SNPs in CNV
  • SNPs in miRNA
  • SNPs in CpG Island
  • Disease/Phenotype
EMBL ID DISEASE Name SOURCE GENES
ENSG00000085563COLCHICINE RESISTANCEOMIMGENEABCB1
ENSG00000023839DUBIN-JOHNSON SYNDROMEOMIMGENEABCC2
ENSG00000101444HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCYOMIMGENEAHCY
ENSG00000116748ADENOSINE MONOPHOSPHATE DEAMINASE 1OMIMGENEAMPD1
ENSG00000145020GLYCINE ENCEPHALOPATHYOMIMGENEAMT
ENSG00000138363AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCYOMIMGENEATIC
ENSG00000160200HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCYOMIMGENECBS
ENSG00000167775METHYLMALONIC ACIDURIA DUE TO TRANSCOBALAMIN RECEPTOR DEFECTOMIMGENECD320
ENSG00000107611MEGALOBLASTIC ANEMIA 1OMIMGENECUBN
ENSG00000228716Megaloblastic anemia due to dihydrofolate reductase deficiencyOMIMGENEDHFR
ENSG00000132837DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCYOMIMGENEDMGDH
ENSG00000130816NEUROPATHY HEREDITARY SENSORY TYPE IEOMIMGENEDNMT1
ENSG00000088305IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROMEOMIMGENEDNMT3B
ENSG00000110195NEURODEGENERATION DUE TO CEREBRAL FOLATE TRANSPORT DEFICIENCYOMIMGENEFOLR1
ENSG00000160282FORMIMINOTRANSFERASE DEFICIENCYOMIMGENEFTCD
ENSG00000134812INTRINSIC FACTOR DEFICIENCYOMIMGENEGIF
ENSG00000124713GLYCINE N-METHYLTRANSFERASE DEFICIENCYOMIMGENEGNMT
ENSG00000125877INOSINE TRIPHOSPHATASE DEFICIENCYOMIMGENEITPA
ENSG00000151224methionine adenosyltransferase deficiencyOMIMGENEMAT1A
ENSG00000139428METHYLMALONIC ACIDURIA cblB TYPEOMIMGENEMMAB
ENSG00000103707Combined oxidative phosphorylation defect type 15OrphanetMTFMT
ENSG00000100714COLORECTAL CANCEROMIMGENEMTHFD1
ENSG00000177000HOMOCYSTEINEMIAOMIMGENEMTHFR
ENSG00000116984HOMOCYSTEINEMIAOMIMGENEMTR
ENSG00000124275HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISMOMIMGENEMTRR
ENSG00000123453SARCOSINEMIAOMIMGENESARDH
ENSG00000262186FOLATE MALABSORPTION HEREDITARYOMIMGENESLC46A1
ENSG00000185339TRANSCOBALAMIN II DEFICIENCYOMIMGENETCN2
ENSG00000185339TRANSCOBALAMIN II DEFICIENCYOrphanetTCN2