Human | MMAB | 326625 | methylmalonic aciduria (cobalamin deficiency) cblB type | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | MMAA | 166785 | methylmalonic aciduria (cobalamin deficiency) cblA type | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | UGT1A1 | 54658 | UDP glucuronosyltransferase 1 family, polypeptide A1 | Title:Genetic variants in the UDP-glucuronosyltransferase 1A1 gene predict the risk of severe neutropenia of irinotecan.|Association:Y|Conclusion:UGT1A1 genotype and total bilirubin levels are strongly associated with severe neutropenia, and could be used to identify cancer patients predisposed to the severe toxicity of irinotecan. The hypothesis that the -3156G>A variant is a better predictor of UGT1A1 status than the previously reported TA indel requires further testing. |
Human | SBDS | 51119 | Shwachman-Bodian-Diamond syndrome | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | SMARCAL1 | 50485 | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | SLCO1B3 | 28234 | solute carrier organic anion transporter family, member 1B3 | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | MMACHC | 25974 | methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | MASP2 | 10747 | mannan-binding lectin serine peptidase 2 | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | SLC35A1 | 10559 | solute carrier family 35 (CMP-sialic acid transporter), member A1 | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | RECQL4 | 9401 | RecQ protein-like 4 | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | RFXANK | 8625 | regulatory factor X-associated ankyrin-containing protein | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | AP3B1 | 8546 | adaptor-related protein complex 3, beta 1 subunit | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | TAZ | 6901 | tafazzin | |
Human | RMRP | 6023 | RNA component of mitochondrial RNA processing endoribonuclease | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | RFXAP | 5994 | regulatory factor X-associated protein | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | RFX5 | 5993 | regulatory factor X, 5 (influences HLA class II expression) | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | PCCB | 5096 | propionyl CoA carboxylase, beta polypeptide | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | PCCA | 5095 | propionyl CoA carboxylase, alpha polypeptide | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | NQO2 | 4835 | NAD(P)H dehydrogenase, quinone 2 | Title:NQO2 gene is associated with clozapine-induced agranulocytosis.|Association:Y|Conclusion:Such a reduction in message suggests that the NQO2 gene may be involved in the development of clozapine-induced AGR. |
Human | MPO | 4353 | myeloperoxidase | Title:Clozapine-induced agranulocytosis and hereditary polymorphisms of clozapine metabolizing enzymes: noassociation with myeloperoxidase and cytochrome P4502D6.|Association:Not Found|Conclusion:Thus, our data suggest lack of evidence of an association of CA and genetically variable activity of these specific drug metabolizing enzymes; however, this may be due to statistical reasons only. Thus, further studies with greater CA samples are necessary to draw final conclusions about these genetically based hypotheses. Title:Impact of myeloperoxidase and NADPH-oxidase polymorphisms in drug-induced agranulocytosis.|Association:Not Found|Conclusion:Sequencing the entire coding region of the NADPH subunit CYBB (gpS1phase) disclosed that CYBB is a highly conserved gene, which does not represent a risk factor for clozapine-induced agranulocytosis. The impact of the polymorphic myeloperoxidase, however, needs further verification to predict a patient's risk to develop drug-induced agranulocytosis. |
Human | CIITA | 4261 | class II, major histocompatibility complex, transactivator | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | ITPA | 3704 | inosine triphosphatase (nucleoside triphosphate pyrophosphatase) | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | IFNG | 3458 | interferon, gamma | INFERRED, Score=800, UMLKSK CUI: C0001824 |
Human | HSPA1B | 3304 | heat shock 70kDa protein 1B | Title:The major histocompatibility complex region marked by HSP70-1 and HSP70-2 variants is associated with clozapine-induced agranulocytosis in two different ethnic groups.|Association:Y|Conclusion:This finding supports our hypothesis that a dominant gene within the MHC region (marked by HSP70-1 and HSP70-2), but not necessarily HLA, is associated with CA in two different ethnic groups. |
Human | GSS | 2937 | glutathione synthetase | INFERRED, Score=800, UMLKSK CUI: C0001824 |