GO ID | Tissue | Disease Stage | Description | Gene Ratio | Bg Ratio | pvalue | p.adjust | Count |
GO:00066316 | Liver | NAFLD | fatty acid metabolic process | 92/1882 | 390/18723 | 3.38e-15 | 3.29e-12 | 92 |
GO:00160535 | Liver | NAFLD | organic acid biosynthetic process | 77/1882 | 316/18723 | 1.03e-13 | 6.69e-11 | 77 |
GO:00463945 | Liver | NAFLD | carboxylic acid biosynthetic process | 75/1882 | 314/18723 | 6.37e-13 | 3.39e-10 | 75 |
GO:00082023 | Liver | NAFLD | steroid metabolic process | 69/1882 | 319/18723 | 5.90e-10 | 1.28e-07 | 69 |
GO:00094107 | Liver | NAFLD | response to xenobiotic stimulus | 88/1882 | 462/18723 | 2.53e-09 | 4.11e-07 | 88 |
GO:00723303 | Liver | NAFLD | monocarboxylic acid biosynthetic process | 46/1882 | 214/18723 | 5.06e-07 | 3.07e-05 | 46 |
GO:0008203 | Liver | NAFLD | cholesterol metabolic process | 32/1882 | 137/18723 | 4.28e-06 | 1.66e-04 | 32 |
GO:0016125 | Liver | NAFLD | sterol metabolic process | 34/1882 | 152/18723 | 6.02e-06 | 2.11e-04 | 34 |
GO:1902652 | Liver | NAFLD | secondary alcohol metabolic process | 33/1882 | 147/18723 | 7.57e-06 | 2.56e-04 | 33 |
GO:00060666 | Liver | NAFLD | alcohol metabolic process | 62/1882 | 353/18723 | 9.01e-06 | 2.96e-04 | 62 |
GO:0019627 | Liver | NAFLD | urea metabolic process | 7/1882 | 12/18723 | 5.15e-05 | 1.19e-03 | 7 |
GO:0071941 | Liver | NAFLD | nitrogen cycle metabolic process | 7/1882 | 12/18723 | 5.15e-05 | 1.19e-03 | 7 |
GO:00714663 | Liver | NAFLD | cellular response to xenobiotic stimulus | 33/1882 | 177/18723 | 3.54e-04 | 5.36e-03 | 33 |
GO:00335596 | Liver | NAFLD | unsaturated fatty acid metabolic process | 24/1882 | 116/18723 | 4.64e-04 | 6.74e-03 | 24 |
GO:00016763 | Liver | NAFLD | long-chain fatty acid metabolic process | 23/1882 | 112/18723 | 6.73e-04 | 8.66e-03 | 23 |
GO:01202545 | Liver | NAFLD | olefinic compound metabolic process | 28/1882 | 153/18723 | 1.28e-03 | 1.45e-02 | 28 |
GO:00068054 | Liver | NAFLD | xenobiotic metabolic process | 22/1882 | 111/18723 | 1.42e-03 | 1.58e-02 | 22 |
GO:00066334 | Liver | NAFLD | fatty acid biosynthetic process | 29/1882 | 163/18723 | 1.67e-03 | 1.74e-02 | 29 |
GO:00424452 | Liver | NAFLD | hormone metabolic process | 36/1882 | 218/18723 | 1.98e-03 | 1.98e-02 | 36 |
GO:0070988 | Liver | NAFLD | demethylation | 16/1882 | 73/18723 | 2.09e-03 | 2.06e-02 | 16 |
Hugo Symbol | Variant Class | Variant Classification | dbSNP RS | HGVSc | HGVSp | HGVSp Short | SWISSPROT | BIOTYPE | SIFT | PolyPhen | Tumor Sample Barcode | Tissue | Histology | Sex | Age | Stage | Therapy Types | Drugs | Outcome |
CYP2C9 | SNV | Missense_Mutation | novel | c.629G>T | p.Ser210Ile | p.S210I | P11712 | protein_coding | deleterious(0.02) | probably_damaging(0.946) | TCGA-A7-A0DB-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | arimidex | SD |
CYP2C9 | SNV | Missense_Mutation | | c.236G>A | p.Gly79Glu | p.G79E | P11712 | protein_coding | deleterious(0) | probably_damaging(0.991) | TCGA-AC-A23H-01 | Breast | breast invasive carcinoma | Female | >=65 | I/II | Unknown | Unknown | PD |
CYP2C9 | SNV | Missense_Mutation | | c.982N>A | p.Glu328Lys | p.E328K | P11712 | protein_coding | deleterious(0) | benign(0.223) | TCGA-BH-A0B0-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Chemotherapy | adriamycin | CR |
CYP2C9 | SNV | Missense_Mutation | rs771054349 | c.1372N>G | p.Leu458Val | p.L458V | P11712 | protein_coding | deleterious(0) | possibly_damaging(0.871) | TCGA-BH-A0BZ-01 | Breast | breast invasive carcinoma | Female | <65 | III/IV | Chemotherapy | doxorubicin | CR |
CYP2C9 | SNV | Missense_Mutation | | c.1222N>C | p.Asp408His | p.D408H | P11712 | protein_coding | deleterious(0) | possibly_damaging(0.801) | TCGA-BH-A0HP-01 | Breast | breast invasive carcinoma | Female | >=65 | III/IV | Chemotherapy | doxorubicin | SD |
CYP2C9 | deletion | Frame_Shift_Del | novel | c.1135delT | p.Tyr379IlefsTer10 | p.Y379Ifs*10 | P11712 | protein_coding | | | TCGA-D8-A27V-01 | Breast | breast invasive carcinoma | Female | <65 | I/II | Hormone Therapy | tamoxiphen | SD |
CYP2C9 | SNV | Missense_Mutation | | c.1070G>C | p.Arg357Thr | p.R357T | P11712 | protein_coding | deleterious(0) | probably_damaging(1) | TCGA-C5-A1BM-01 | Cervix | cervical & endocervical cancer | Female | >=65 | I/II | Unknown | Unknown | SD |
CYP2C9 | SNV | Missense_Mutation | | c.387G>A | p.Met129Ile | p.M129I | P11712 | protein_coding | deleterious(0.04) | benign(0.08) | TCGA-DR-A0ZM-01 | Cervix | cervical & endocervical cancer | Female | <65 | III/IV | Unspecific | Cisplatin | SD |
CYP2C9 | SNV | Missense_Mutation | rs200183364 | c.395N>A | p.Arg132Gln | p.R132Q | P11712 | protein_coding | deleterious(0.01) | possibly_damaging(0.481) | TCGA-VS-A8QC-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Chemotherapy | paclitaxel | PD |
CYP2C9 | SNV | Missense_Mutation | novel | c.670G>C | p.Asp224His | p.D224H | P11712 | protein_coding | tolerated(0.29) | benign(0.021) | TCGA-VS-A953-01 | Cervix | cervical & endocervical cancer | Female | <65 | I/II | Unknown | Unknown | PD |
Entrez ID | Symbol | Category | Interaction Types | Drug Claim Name | Drug Name | PMIDs |
1559 | CYP2C9 | DRUGGABLE GENOME, ENZYME, CYTOCHROME P450 | | AM-404 | CHEMBL39878 | |
1559 | CYP2C9 | DRUGGABLE GENOME, ENZYME, CYTOCHROME P450 | | GNF-PF-3582 | CHEMBL606167 | |
1559 | CYP2C9 | DRUGGABLE GENOME, ENZYME, CYTOCHROME P450 | | CHLOROQUINE | CHLOROQUINE | 22931300 |
1559 | CYP2C9 | DRUGGABLE GENOME, ENZYME, CYTOCHROME P450 | | MECLIZINE | MECLIZINE | 22931300 |
1559 | CYP2C9 | DRUGGABLE GENOME, ENZYME, CYTOCHROME P450 | | fluconazole | FLUCONAZOLE | 26886310 |
1559 | CYP2C9 | DRUGGABLE GENOME, ENZYME, CYTOCHROME P450 | | TYRPHOSTIN 23 | TYRPHOSTIN 23 | |
1559 | CYP2C9 | DRUGGABLE GENOME, ENZYME, CYTOCHROME P450 | | LIOTHYRONINE | LIOTHYRONINE | 22931300 |
1559 | CYP2C9 | DRUGGABLE GENOME, ENZYME, CYTOCHROME P450 | | NIMESULIDE | NIMESULIDE | 22931300 |
1559 | CYP2C9 | DRUGGABLE GENOME, ENZYME, CYTOCHROME P450 | | WAY-629 | CHEMBL258465 | |
1559 | CYP2C9 | DRUGGABLE GENOME, ENZYME, CYTOCHROME P450 | | zidovudine | ZIDOVUDINE | 22960662 |