exanthem |
Disease ID | 664 |
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Disease | exanthem |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0002373 | Febrile convulsions | 1 HP:0000083 | Renal insufficiency | 1 HP:0001945 | Fever | 1 HP:0001250 | Seizures | 1 HP:0001919 | Acute renal failure | 1 HP:0040189 | Desquamation | 1 |
Disease ID | 664 |
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Disease | exanthem |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:56) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs104894833 | 22305854 | 2717 | GLA | umls:C0015230 | BeFree | Recently, male subjects harboring the c.196G>C nucleotide change which leads to the E66Q enzyme having low α-galactosidase A (GLA) activity have been identified at an unexpectedly high frequency on Japanese and Korean screening for Fabry disease involving dry blood spots and plasma/serum samples. | 0.002171535 | 2012 | GLA;RPL36A-HNRNPH2 | X | 101403984 | C | G |
rs121912438 | 15501831 | 6647 | SOD1 | umls:C0015230 | BeFree | Nine and 36 protein spots displayed elevated and suppressed abundance respectively in G93A-SOD1-expressing cells. | 0.000814326 | 2004 | SOD1 | 21 | 31667299 | G | C |
rs121918456 | 12161596 | 5781 | PTPN11 | umls:C0015230 | BeFree | We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or café au lait spots. | 0.001085767 | 2002 | PTPN11 | 12 | 112473023 | A | C,G |
rs1799782 | 14716779 | 27306 | HPGDS | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000814326 | 2004 | XRCC1 | 19 | 43553422 | G | A |
rs1799782 | 14716779 | 4552 | MTRR | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | XRCC1 | 19 | 43553422 | G | A |
rs1799782 | 14716779 | 1728 | NQO1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | XRCC1 | 19 | 43553422 | G | A |
rs1799782 | 14716779 | 4353 | MPO | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | XRCC1 | 19 | 43553422 | G | A |
rs1799782 | 14716779 | 7515 | XRCC1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | XRCC1 | 19 | 43553422 | G | A |
rs1799782 | 14716779 | 2944 | GSTM1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.001357209 | 2004 | XRCC1 | 19 | 43553422 | G | A |
rs1799782 | 14716779 | 2952 | GSTT1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000542884 | 2004 | XRCC1 | 19 | 43553422 | G | A |
rs1801394 | 14716779 | 2944 | GSTM1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.001357209 | 2004 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
rs1801394 | 14716779 | 7515 | XRCC1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
rs1801394 | 14716779 | 4552 | MTRR | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
rs1801394 | 14716779 | 2952 | GSTT1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000542884 | 2004 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
rs1801394 | 14716779 | 1728 | NQO1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
rs1801394 | 14716779 | 4353 | MPO | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
rs1801394 | 14716779 | 27306 | HPGDS | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000814326 | 2004 | MTRR;FASTKD3 | 5 | 7870860 | A | G |
rs1893592 | 25843625 | 53347 | UBASH3A | umls:C0015230 | BeFree | A statistically significant association was observed between UBASH3A rs1893592 C allele and skin rash, oral ulcer and arthritis (p<0.05). | 0.000271442 | 2015 | UBASH3A | 21 | 42434957 | A | C |
rs25487 | 14716779 | 2952 | GSTT1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000542884 | 2004 | XRCC1 | 19 | 43551574 | T | C |
rs25487 | 14716779 | 4552 | MTRR | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | XRCC1 | 19 | 43551574 | T | C |
rs25487 | 14716779 | 2944 | GSTM1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.001357209 | 2004 | XRCC1 | 19 | 43551574 | T | C |
rs25487 | 14716779 | 4353 | MPO | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | XRCC1 | 19 | 43551574 | T | C |
rs25487 | 14716779 | 7515 | XRCC1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | XRCC1 | 19 | 43551574 | T | C |
rs25487 | 14716779 | 27306 | HPGDS | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000814326 | 2004 | XRCC1 | 19 | 43551574 | T | C |
rs25487 | 14716779 | 1728 | NQO1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | XRCC1 | 19 | 43551574 | T | C |
rs25489 | 14716779 | 4552 | MTRR | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | XRCC1 | 19 | 43552260 | C | T,G |
rs25489 | 14716779 | 27306 | HPGDS | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000814326 | 2004 | XRCC1 | 19 | 43552260 | C | T,G |
rs25489 | 14716779 | 2952 | GSTT1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000542884 | 2004 | XRCC1 | 19 | 43552260 | C | T,G |
rs25489 | 14716779 | 2944 | GSTM1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.001357209 | 2004 | XRCC1 | 19 | 43552260 | C | T,G |
rs25489 | 14716779 | 7515 | XRCC1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | XRCC1 | 19 | 43552260 | C | T,G |
rs25489 | 14716779 | 1728 | NQO1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | XRCC1 | 19 | 43552260 | C | T,G |
rs25489 | 14716779 | 4353 | MPO | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | XRCC1 | 19 | 43552260 | C | T,G |
rs267606990 | 19449407 | 5781 | PTPN11 | umls:C0015230 | BeFree | The patient was found to carry a de novo PTPN11 mutation p.T2I as well as the maternally inherited NF1 mutation c.4661+1G>C. Her otherwise healthy mother and brother, who also had the NF1 mutation, showed few café-au-lait spots as the only sign of neurofibromatosis. | 0.001085767 | 2009 | PTPN11;RPL6 | 12 | 112419116 | C | T |
rs376919235 | 14716779 | 1728 | NQO1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | MPO | 17 | 58279366 | A | G |
rs376919235 | 14716779 | 4353 | MPO | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | MPO | 17 | 58279366 | A | G |
rs376919235 | 14716779 | 2952 | GSTT1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000542884 | 2004 | MPO | 17 | 58279366 | A | G |
rs376919235 | 14716779 | 7515 | XRCC1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | MPO | 17 | 58279366 | A | G |
rs376919235 | 14716779 | 2944 | GSTM1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.001357209 | 2004 | MPO | 17 | 58279366 | A | G |
rs376919235 | 14716779 | 27306 | HPGDS | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000814326 | 2004 | MPO | 17 | 58279366 | A | G |
rs376919235 | 14716779 | 4552 | MTRR | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | MPO | 17 | 58279366 | A | G |
rs386493716 | 14716779 | 2952 | GSTT1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000542884 | 2004 | NA | NA | NA | NA | NA |
rs386493716 | 14716779 | 27306 | HPGDS | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000814326 | 2004 | NA | NA | NA | NA | NA |
rs386493716 | 14716779 | 1728 | NQO1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | NA | NA | NA | NA | NA |
rs386493716 | 14716779 | 7515 | XRCC1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | NA | NA | NA | NA | NA |
rs386493716 | 14716779 | 2944 | GSTM1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.001357209 | 2004 | NA | NA | NA | NA | NA |
rs386493716 | 14716779 | 4552 | MTRR | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | NA | NA | NA | NA | NA |
rs386493716 | 14716779 | 4353 | MPO | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | NA | NA | NA | NA | NA |
rs386545546 | 14716779 | 2952 | GSTT1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000542884 | 2004 | NA | NA | NA | NA | NA |
rs386545546 | 14716779 | 2944 | GSTM1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.001357209 | 2004 | NA | NA | NA | NA | NA |
rs386545546 | 14716779 | 1728 | NQO1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | NA | NA | NA | NA | NA |
rs386545546 | 14716779 | 4353 | MPO | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | NA | NA | NA | NA | NA |
rs386545546 | 14716779 | 4552 | MTRR | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | NA | NA | NA | NA | NA |
rs386545546 | 14716779 | 27306 | HPGDS | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000814326 | 2004 | NA | NA | NA | NA | NA |
rs386545546 | 14716779 | 7515 | XRCC1 | umls:C0015230 | BeFree | Genotyping for glutathione S-transferase micro1 (GSTM1), glutathione S-transferase theta1 (GSTT1), myeloperoxidase (MPO) (C(-)463T), nicotinamide adenine dinucleotide phosphate:quinone oxidoreductase (NQO1) (C609T), 5,10-methylenetetrahydrofolate reductase (MTHFR) (C677T), MTHFR (A1298C), methionine synthase reductase (MTRR) (A66G), X-ray repair cross complementing 1 (XRCC1) 194 (Arg194Trp), XRCC1 280 (Arg280His), and XRCC1 399 (Arg399Gln) alleles was performed by TaqMan analysis using DNA isolated from newborn heel-stick spots provided by the Minnesota Department of Health. | 0.000271442 | 2004 | NA | NA | NA | NA | NA |
rs397507531 | 19120036 | 5781 | PTPN11 | umls:C0015230 | BeFree | We suggest that the atypical severe symptoms in the index patient may be caused by an additive effect on the F285L mutation in PTPN11 by another mutation, for example the NF1 R1809C or alternatively, the not yet identified gene mutation associated with CAL spots in this family. | 0.001085767 | 2009 | PTPN11 | 12 | 112473040 | T | C,G |
rs397516810 | 19120036 | 5781 | PTPN11 | umls:C0015230 | BeFree | We suggest that the atypical severe symptoms in the index patient may be caused by an additive effect on the F285L mutation in PTPN11 by another mutation, for example the NF1 R1809C or alternatively, the not yet identified gene mutation associated with CAL spots in this family. | 0.001085767 | 2009 | PTPN11 | 12 | 112477652 | T | G |
GWASdb Annotation(Total Genotypes:0) | |
---|---|
(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:18) | |||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHR | POS | SNPID | REF | ALT | ORI_SNPID | PMID | P_VALUE | P_VALUE_TEXT | OR/BETA | CI95_TEXT | GWAS_INITIAL_SAMPLE_SIZE | SUB_POPULATION | SUPER_POPULATION | GWAS_TRAIT | HPO_ID | HPO_TERM | DO_ID | DO_TERM | MESH_ID | MESH_TERM | EFO_ID | EFO_TERM | DOLITE_TERM | RISK_ALLELE | PUBLICATION_TYPE | AA | GENE_SYMBOL | TYPE | REFGENE |
2 | 60534199 | rs6545803 | G | T | rs6545803 | 21810746 | 6.00E-06 | NA | NA | NA | 72 Thai nevirapine-induced rash patients; 77 Thai nevirapine-tolerant rash patients | Thai(149) | ALL(149) | ASN(149) | ALL(149) | Nevirapine-induced rash | HPOID:0000988 | Skin rash | DOID:0050486 | exanthem | NA | NA | response to reverse transcriptase inhibitor | Skin disease | rs6545803-G | Research Support, Non-U.S. Gov't | G | NA | NA |
5 | 89780971 | rs2562519 | C | T | rs2562519 | 21810746 | 5.00E-06 | NA | NA | NA | 72 Thai nevirapine-induced rash patients; 77 Thai nevirapine-tolerant rash patients | Thai(149) | ALL(149) | ASN(149) | ALL(149) | Nevirapine-induced rash | HPOID:0000988 | Skin rash | DOID:0050486 | exanthem | NA | NA | response to reverse transcriptase inhibitor | Skin disease | rs2562519-A | Research Support, Non-U.S. Gov't | G | POLR3G | intron |
6 | 29913298 | rs1061235 | A | T | rs1061235 | 21428769 | 1.00E-07 | NA | 9.12 | [4.03-20.65] | 65 European ancestry cases; 3,987 European ancestry controls | European(4052) | ALL(4052) | EUR(4052) | ALL(4052) | Adverse response to carbamapezine | HPOID:0000988 | Skin rash | DOID:37 | DOID:0060056 | skin disease | hypersensitivity reaction disease | D002220 | Carbamazepine | response to anticonvulsant | Skin disease | Immunologic deficiency syndrome | NA | Research Support, N.I.H., Extramural |
6 | 31109810 | rs1265087 | G | A | rs1265087 | 21810746 | 1.21E-08 | NA | NA | NA | 72 Thai nevirapine-induced rash patients; 77 Thai nevirapine-tolerant rash patients | Thai(149) | ALL(149) | ASN(149) | ALL(149) | Nevirapine-induced rash | HPOID:0000988 | Skin rash | DOID:0050486 | exanthem | NA | NA | response to reverse transcriptase inhibitor | Skin disease | NA | Research Support, Non-U.S. Gov't | C | CCHCR1 | nearGene-3 |
6 | 31109946 | rs2523834 | T | A | rs2523834 | 21810746 | 1.21E-08 | NA | NA | NA | 72 Thai nevirapine-induced rash patients; 77 Thai nevirapine-tolerant rash patients | Thai(149) | ALL(149) | ASN(149) | ALL(149) | Nevirapine-induced rash | HPOID:0000988 | Skin rash | DOID:0050486 | exanthem | NA | NA | response to reverse transcriptase inhibitor | Skin disease | NA | Research Support, Non-U.S. Gov't | A | CCHCR1 | nearGene-3 |
6 | 31109947 | rs2523833 | C | T | rs2523833 | 21810746 | 1.21E-08 | NA | NA | NA | 72 Thai nevirapine-induced rash patients; 77 Thai nevirapine-tolerant rash patients | Thai(149) | ALL(149) | ASN(149) | ALL(149) | Nevirapine-induced rash | HPOID:0000988 | Skin rash | DOID:0050486 | exanthem | NA | NA | response to reverse transcriptase inhibitor | Skin disease | NA | Research Support, Non-U.S. Gov't | G | CCHCR1 | nearGene-3 |
6 | 31110391 | rs1576 | G | C | rs1576 | 21810746 | 1.21E-08 | NA | NA | NA | 72 Thai nevirapine-induced rash patients; 77 Thai nevirapine-tolerant rash patients | Thai(149) | ALL(149) | ASN(149) | ALL(149) | Nevirapine-induced rash | HPOID:0000988 | Skin rash | DOID:0050486 | exanthem | NA | NA | response to reverse transcriptase inhibitor | Skin disease | NA | Research Support, Non-U.S. Gov't | C | CCHCR1 | missense |
6 | 31112108 | rs1265079 | G | T | rs1265079 | 21810746 | 1.21E-08 | NA | NA | NA | 72 Thai nevirapine-induced rash patients; 77 Thai nevirapine-tolerant rash patients | Thai(149) | ALL(149) | ASN(149) | ALL(149) | Nevirapine-induced rash | HPOID:0000988 | Skin rash | DOID:0050486 | exanthem | NA | NA | response to reverse transcriptase inhibitor | Skin disease | NA | Research Support, Non-U.S. Gov't | C | CCHCR1 | intron |
6 | 31112602 | rs1265078 | G | C | rs1265078 | 21810746 | 1.21E-08 | NA | NA | NA | 72 Thai nevirapine-induced rash patients; 77 Thai nevirapine-tolerant rash patients | Thai(149) | ALL(149) | ASN(149) | ALL(149) | Nevirapine-induced rash | HPOID:0000988 | Skin rash | DOID:0050486 | exanthem | NA | NA | response to reverse transcriptase inhibitor | Skin disease | NA | Research Support, Non-U.S. Gov't | C | CCHCR1 | intron |
6 | 31113083 | rs1265076 | G | A | rs1265076 | 21810746 | 1.21E-08 | NA | NA | NA | 72 Thai nevirapine-induced rash patients; 77 Thai nevirapine-tolerant rash patients | Thai(149) | ALL(149) | ASN(149) | ALL(149) | Nevirapine-induced rash | HPOID:0000988 | Skin rash | DOID:0050486 | exanthem | NA | NA | response to reverse transcriptase inhibitor | Skin disease | NA | Research Support, Non-U.S. Gov't | C | CCHCR1 | intron |
6 | 31113940 | rs746646 | T | C | rs746646 | 21810746 | 1.21E-08 | NA | NA | NA | 72 Thai nevirapine-induced rash patients; 77 Thai nevirapine-tolerant rash patients | Thai(149) | ALL(149) | ASN(149) | ALL(149) | Nevirapine-induced rash | HPOID:0000988 | Skin rash | DOID:0050486 | exanthem | NA | NA | response to reverse transcriptase inhibitor | Skin disease | NA | Research Support, Non-U.S. Gov't | A | CCHCR1 | intron |
6 | 31114182 | rs746647 | A | G | rs746647 | 21810746 | 1.21E-08 | NA | NA | NA | 72 Thai nevirapine-induced rash patients; 77 Thai nevirapine-tolerant rash patients | Thai(149) | ALL(149) | ASN(149) | ALL(149) | Nevirapine-induced rash | HPOID:0000988 | Skin rash | DOID:0050486 | exanthem | NA | NA | response to reverse transcriptase inhibitor | Skin disease | NA | Research Support, Non-U.S. Gov't | T | CCHCR1 | intron |
6 | 31115700 | rs1265069 | A | G | rs1265069 | 21810746 | 1.21E-08 | NA | NA | NA | 72 Thai nevirapine-induced rash patients; 77 Thai nevirapine-tolerant rash patients | Thai(149) | ALL(149) | ASN(149) | ALL(149) | Nevirapine-induced rash | HPOID:0000988 | Skin rash | DOID:0050486 | exanthem | NA | NA | response to reverse transcriptase inhibitor | Skin disease | NA | Research Support, Non-U.S. Gov't | T | CCHCR1 | intron |
6 | 31116142 | rs1265067 | G | A | rs1265067 | 21810746 | 1.21E-08 | NA | NA | NA | 72 Thai nevirapine-induced rash patients; 77 Thai nevirapine-tolerant rash patients | Thai(149) | ALL(149) | ASN(149) | ALL(149) | Nevirapine-induced rash | HPOID:0000988 | Skin rash | DOID:0050486 | exanthem | NA | NA | response to reverse transcriptase inhibitor | Skin disease | NA | Research Support, Non-U.S. Gov't | C | CCHCR1 | intron |
6 | 31117188 | rs1265114 | C | T | rs1265114 | 21810746 | 1.21E-08 | NA | NA | NA | 72 Thai nevirapine-induced rash patients; 77 Thai nevirapine-tolerant rash patients | Thai(149) | ALL(149) | ASN(149) | ALL(149) | Nevirapine-induced rash | HPOID:0000988 | Skin rash | DOID:0050486 | exanthem | NA | NA | response to reverse transcriptase inhibitor | Skin disease | NA | Research Support, Non-U.S. Gov't | G | CCHCR1 | intron |
6 | 31118019 | rs1265112 | T | C | rs1265112 | 21810746 | 1.00E-08 | NA | 4.36 | [2.58-7.36] | 72 Thai nevirapine-induced rash patients; 77 Thai nevirapine-tolerant rash patients | Thai(149) | ALL(149) | ASN(149) | ALL(149) | Nevirapine-induced rash | HPOID:0000988 | Skin rash | DOID:0050486 | exanthem | NA | NA | response to reverse transcriptase inhibitor | Skin disease | rs1265112-G | Research Support, Non-U.S. Gov't | A | CCHCR1 | intron |
6 | 31118942 | rs2517985 | T | C | rs2517985 | 21810746 | 1.21E-08 | NA | NA | NA | 72 Thai nevirapine-induced rash patients; 77 Thai nevirapine-tolerant rash patients | Thai(149) | ALL(149) | ASN(149) | ALL(149) | Nevirapine-induced rash | HPOID:0000988 | Skin rash | DOID:0050486 | exanthem | NA | NA | response to reverse transcriptase inhibitor | Skin disease | NA | Research Support, Non-U.S. Gov't | A | CCHCR1 | intron |
6 | 31119380 | rs1265111 | G | A | rs1265111 | 21810746 | 1.21E-08 | NA | NA | NA | 72 Thai nevirapine-induced rash patients; 77 Thai nevirapine-tolerant rash patients | Thai(149) | ALL(149) | ASN(149) | ALL(149) | Nevirapine-induced rash | HPOID:0000988 | Skin rash | DOID:0050486 | exanthem | NA | NA | response to reverse transcriptase inhibitor | Skin disease | NA | Research Support, Non-U.S. Gov't | C,T | CCHCR1 | intron |
Mapped by lexical matching(Total Items:0) |
---|
(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
---|
(Waiting for update.) |
Chemical(Total Drugs:80) | |||||||||
---|---|---|---|---|---|---|---|---|---|
CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0015230 | acetaminophen | D000082 | 103-90-2 | exanthema | MESH:D005076 | marker/mechanism | 18377375 | ||
C0015230 | allopurinol | D000493 | 315-30-0 | exanthema | MESH:D005076 | marker/mechanism | 11450872 | ||
C0015230 | amcinonide | C012716 | - | exanthema | MESH:D005076 | marker/mechanism | 10894975 | ||
C0015230 | amifostine | D004999 | 20537-88-6 | exanthema | MESH:D005076 | marker/mechanism | 10688811 | ||
C0015230 | aminoglutethimide | D000616 | 125-84-8 | exanthema | MESH:D005076 | marker/mechanism | 6123383 | ||
C0015230 | amlodipine | D017311 | 88150-42-9 | exanthema | MESH:D005076 | marker/mechanism | 10940749 | ||
C0015230 | ampicillin | D000667 | 69-53-4 | exanthema | MESH:D005076 | marker/mechanism | 4025903 | ||
C0015230 | arsenic trioxide | C006632 | 1327-53-3 | exanthema | MESH:D005076 | marker/mechanism | 9801394 | ||
C0015230 | atenolol | D001262 | 29122-68-7 | exanthema | MESH:D005076 | marker/mechanism | 1378155 | ||
C0015230 | azithromycin | D017963 | 83905-01-5 | exanthema | MESH:D005076 | marker/mechanism | 11247598 | ||
C0015230 | aztreonam | D001398 | 78110-38-0 | exanthema | MESH:D005076 | marker/mechanism | 2967033 | ||
C0015230 | carbamazepine | D002220 | 298-46-4 | exanthema | MESH:D005076 | marker/mechanism | 12005248 | ||
C0015230 | carbimazole | D002231 | 22232-54-8 | exanthema | MESH:D005076 | marker/mechanism | 15785249 | ||
C0015230 | cefdinir | C056814 | - | exanthema | MESH:D005076 | marker/mechanism | 18377375 | ||
C0015230 | celecoxib | D000068579 | - | exanthema | MESH:D005076 | marker/mechanism | 11390425 | ||
C0015230 | chlorambucil | D002699 | 305-03-3 | exanthema | MESH:D005076 | marker/mechanism | 19122478 | ||
C0015230 | chloramphenicol | D002701 | 56-75-7 | exanthema | MESH:D005076 | marker/mechanism | 4800729 | ||
C0015230 | chlorpromazine | D002746 | 50-53-3 | exanthema | MESH:D005076 | marker/mechanism | 4247303 | ||
C0015230 | cimetidine | D002927 | 51481-61-9 | exanthema | MESH:D005076 | marker/mechanism | 375397 | ||
C0015230 | ciprofloxacin | D002939 | 85721-33-1 | exanthema | MESH:D005076 | marker/mechanism | 10688811 | ||
C0015230 | clonidine | D003000 | 4205-90-7 | exanthema | MESH:D005076 | marker/mechanism | 3836300 | ||
C0015230 | clozapine | D003024 | 5786-21-0 | exanthema | MESH:D005076 | marker/mechanism | 15671137 | ||
C0015230 | codeine | D003061 | 76-57-3 | exanthema | MESH:D005076 | marker/mechanism | 4025903 | ||
C0015230 | cyclophosphamide | D003520 | 50-18-0 | exanthema | MESH:D005076 | marker/mechanism | 1677714 | ||
C0015230 | cyclosporine | D016572 | 59865-13-3 | exanthema | MESH:D005076 | therapeutic | 16114793 | ||
C0015230 | dapsone | D003622 | 80-08-0 | exanthema | MESH:D005076 | marker/mechanism | 10812824 | ||
C0015230 | deferasirox | C415250 | - | exanthema | MESH:D005076 | marker/mechanism | 17233848 | ||
C0015230 | diatrizoate | D003973 | 117-96-4 | exanthema | MESH:D005076 | marker/mechanism | 3972525 | ||
C0015230 | cisplatin | D002945 | 15663-27-1 | exanthema | MESH:D005076 | marker/mechanism | 21778302 | ||
C0015230 | diclofenac | D004008 | 15307-86-5 | exanthema | MESH:D005076 | marker/mechanism | 2033230 | ||
C0015230 | dicloxacillin | D004009 | 3116-76-5 | exanthema | MESH:D005076 | marker/mechanism | 8742666 | ||
C0015230 | diltiazem | D004110 | 42399-41-7 | exanthema | MESH:D005076 | marker/mechanism | 2699494 | ||
C0015230 | doxycycline | D004318 | 564-25-0 | exanthema | MESH:D005076 | marker/mechanism | 6268571 | ||
C0015230 | enalapril | D004656 | 75847-73-3 | exanthema | MESH:D005076 | marker/mechanism | 2541310 | ||
C0015230 | ethambutol | D004977 | 74-55-5 | exanthema | MESH:D005076 | marker/mechanism | 18583892 | ||
C0015230 | everolimus | D000068338 | - | exanthema | MESH:D005076 | marker/mechanism | 21306238 | ||
C0015230 | fluconazole | D015725 | 86386-73-4 | exanthema | MESH:D005076 | therapeutic | 10466905 | ||
C0015230 | fluvoxamine | D016666 | 54739-18-3 | exanthema | MESH:D005076 | marker/mechanism | 17644482 | ||
C0015230 | leucovorin | D002955 | 1958/5/9 | exanthema | MESH:D005076 | therapeutic | 6607976 | ||
C0015230 | gemcitabine | C056507 | 103882-84-4 | exanthema | MESH:D005076 | marker/mechanism | 10955861 | ||
C0015230 | glutathione | D005978 | 70-18-8 | exanthema | MESH:D005076 | marker/mechanism | 8377599 | ||
C0015230 | imatinib mesylate | D000068877 | - | exanthema | MESH:D005076 | marker/mechanism | 11549802 | ||
C0015230 | imipramine | D007099 | 50-49-7 | exanthema | MESH:D005076 | marker/mechanism | 4610613 | ||
C0015230 | indomethacin | D007213 | 53-86-1 | exanthema | MESH:D005076 | marker/mechanism | 16943303 | ||
C0015230 | labetalol | D007741 | 36894-69-6 | exanthema | MESH:D005076 | marker/mechanism | 2873208 | ||
C0015230 | lamotrigine | C047781 | 84057-84-1 | exanthema | MESH:D005076 | marker/mechanism | 10448828 | ||
C0015230 | linezolid | D000069349 | - | exanthema | MESH:D005076 | marker/mechanism | 19733945 | ||
C0015230 | loracarbef | C054920 | - | exanthema | MESH:D005076 | marker/mechanism | 1621750 | ||
C0015230 | lovastatin | D008148 | 75330-75-5 | exanthema | MESH:D005076 | marker/mechanism | 3055921 | ||
C0015230 | medroxyprogesterone acetate | D017258 | 71-58-9 | exanthema | MESH:D005076 | marker/mechanism | 6123383 | ||
C0015230 | mephenytoin | D008617 | 1950/12/4 | exanthema | MESH:D005076 | marker/mechanism | 1001284 | ||
C0015230 | mesna | D015080 | 19767-45-4 | exanthema | MESH:D005076 | marker/mechanism | 16333822 | ||
C0015230 | methotrexate | D008727 | 1959/5/2 | exanthema | MESH:D005076 | marker/mechanism | 1450620 | ||
C0015230 | metoprolol | D008790 | 37350-58-6 | exanthema | MESH:D005076 | marker/mechanism | 12090909 | ||
C0015230 | morphine | D009020 | 57-27-2 | exanthema | MESH:D005076 | marker/mechanism | 6111570 | ||
C0015230 | nafcillin | D009254 | 147-52-4 | exanthema | MESH:D005076 | marker/mechanism | 7467307 | ||
C0015230 | nelfinavir | D019888 | 159989-64-7 | exanthema | MESH:D005076 | marker/mechanism | 18176653 | ||
C0015230 | nevirapine | D019829 | 129618-40-2 | exanthema | MESH:D005076 | marker/mechanism | 10476768 | ||
C0015230 | nicotine | D009538 | - | exanthema | MESH:D005076 | marker/mechanism | 10392670 | ||
C0015230 | nizatidine | D016567 | 76963-41-2 | exanthema | MESH:D005076 | marker/mechanism | 7769203 | ||
C0015230 | ofloxacin | D015242 | 82419-36-1 | exanthema | MESH:D005076 | marker/mechanism | 11131957 | ||
C0015230 | paclitaxel | D017239 | - | exanthema | MESH:D005076 | marker/mechanism | 10955861 | ||
C0015230 | phentermine | D010645 | 122-09-8 | exanthema | MESH:D005076 | marker/mechanism | 9799071 | ||
C0015230 | phenytoin | D010672 | 57-41-0 | exanthema | MESH:D005076 | marker/mechanism | 10698845 | ||
C0015230 | piperacillin | D010878 | 61477-96-1 | exanthema | MESH:D005076 | marker/mechanism | 2755033 | ||
C0015230 | prochlorperazine | D011346 | 58-38-8 | exanthema | MESH:D005076 | marker/mechanism | 4025903 | ||
C0015230 | propranolol | D011433 | 525-66-6 | exanthema | MESH:D005076 | marker/mechanism | 1268509 | ||
C0015230 | propylthiouracil | D011441 | 51-52-5 | exanthema | MESH:D005076 | marker/mechanism | 15785249 | ||
C0015230 | sirolimus | D020123 | 53123-88-9 | exanthema | MESH:D005076 | marker/mechanism | 15102967 | ||
C0015230 | sorafenib | C471405 | - | exanthema | MESH:D005076 | marker/mechanism | 18796127 | ||
C0015230 | sulindac | D013467 | 38194-50-2 | exanthema | MESH:D005076 | marker/mechanism | 7450449 | ||
C0015230 | temsirolimus | C401859 | - | exanthema | MESH:D005076 | marker/mechanism | 20430774 | ||
C0015230 | thalidomide | D013792 | 50-35-1 | exanthema | MESH:D005076 | marker/mechanism | 11840256 | ||
C0015230 | ticlopidine | D013988 | 55142-85-3 | exanthema | MESH:D005076 | marker/mechanism | 10453975 | ||
C0015230 | tramadol | D014147 | 27203-92-5 | exanthema | MESH:D005076 | marker/mechanism | 12032009 | ||
C0015230 | trimethoprim | D014295 | 738-70-5 | exanthema | MESH:D005076 | marker/mechanism | 7481974 | ||
C0015230 | valproic acid | D014635 | 99-66-1 | exanthema | MESH:D005076 | marker/mechanism | 15229826 | ||
C0015230 | vancomycin | D014640 | 1404-90-6 | exanthema | MESH:D005076 | marker/mechanism | 14742796 | ||
C0015230 | vincristine | D014750 | - | exanthema | MESH:D005076 | marker/mechanism | 9434832 | ||
C0015230 | zidovudine | D015215 | 30516-87-1 | exanthema | MESH:D005076 | marker/mechanism | 11434632 |
FDA approved drug and dosage information(Total Drugs:0) | |
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(Waiting for update.) |
FDA labeling changes(Total Drugs:0) | |
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(Waiting for update.) |