| Organism name | Nymphaea caerulea | 
|---|---|
| Genus | Nymphaea | 
| Family | Nymphaeaceae | 
| Kingdom | Plantae | 
| Linked NCBI taxonomy name | Nymphaea caerulea | 
|---|---|
| Linked NCBI taxonomy ID | 49506 | 
| Linked level | species | 
| Family in NCBI taxonomy | Nymphaeaceae | 
|---|---|
| ID | 4410 | 
| Kingdom (Superkingdom) in NCBI taxonomy | Viridiplantae | 
|---|---|
| ID | 33090 | 
| Plant class | Magnoliophyta | 
|---|---|
| ID | 3398 | 
| KNApSAcK ID | name | ChEMBL link | CTD link | # of proteins in ChEMBL interaction / related OMIM / related KEGG DISEASE | # of genes in CTD interaction / related diseases | KCF-S cluster | phytochemical cluster | figure | 
|---|---|---|---|---|---|---|---|---|
| C00006041   | yricetin 3-acetylrhamnoside / Myricetin 3-O-(3''-O-acetyl)-alpha-L-rhamnoside / Myricetin 3-O-(4''-acetyl)-alpha-L-rhamnopyranoside | No. 2 | No. 15 |   | ||||
| C00013864   | Quercitryl-2'' acetate / Quercetin 3-(2''-acetylrhamnoside) / 3-[(2-O-Acetyl-6-deoxy-alpha-L-mannopyranosyl)oxy]-2-(3,4-dihydroxyphenyl)-5,7-dihydroxy-4H-1-benzopyran-4-one | No. 2 | No. 15 |   | ||||
| C00013973   | Myricetin 3-(2''-acetylrhamnoside) / 3-[(2-O-Acetyl-6-deoxy-alpha-L-mannopyranosyl)oxy]-5,7-dihydroxy-2-(3,4,5-trihydroxyphenyl)-4H-1-benzopyran-4-one | No. 2 | No. 15 |   | ||||
| C00005860   | Kaempferol 3-(2''-acetylrhamnoside) | CHEMBL469431 | 2 / 1 / 1 | No. 2 | No. 15 |   | ||
| C00005138   | Astragalin / Kaempferol 3-glucoside / Kaempferol 3-O-beta-D-glucoside / Kaempferol 3-O-beta-D-glucopyranoside | CHEMBL233930 CHEMBL453290 CHEMBL1572115 | C001579 | 10 / 6 / 7 | 0 / 1 | No. 2 | No. 15 |   | 
| C00005140   | Afzelin / Kaempferol 3-O-alpha-rhamnoside / Kaempferol 3-O-alpha-L-rhamnopyranoside | CHEMBL240528 CHEMBL515798 | C477954 | 4 / 2 / 2 | No. 2 | No. 15 |   | |
| C00005373   | Hirsutrin / Isoquercetin / Isoquercetrin / (-)-Isoquercetrin / Quercetin 3-glucoside / Quercetin 3-O-beta-D-glucoside / Quercetin-3-O-beta-D-glucopyranoside / Quercetin 3-O-beta-D-glucopyranoside / (-)-Quercetin-3-O-beta-D-glucopyranoside | CHEMBL33027 CHEMBL309323 CHEMBL250450 CHEMBL251254 CHEMBL457304 CHEMBL1098724 CHEMBL2337335 CHEMBL2337336 | 38 / 43 / 34 | No. 2 | No. 15 |   | ||
| C00005729   | Myricetin 3-glucoside / Myricetin 3-O-beta-D-glucoside / Myricetin 3-O-beta-D-glucopyranoside | CHEMBL462244 CHEMBL1221722 | No. 2 | No. 15 |   | |||
| C00005730   | Myricitrin / Myricetin 3-O-rhamnoside / Myricetin 3-O-alpha-L-rhamnoside / Myricetin 3-O-alpha-L-rhamnopyranoside | CHEMBL454576 CHEMBL522983 CHEMBL1599224 | C008577 | 25 / 11 / 11 | No. 2 | No. 15 |   | |
| C00000982   | Naringenin / (-)-Naringenin | CHEMBL9352 CHEMBL32571 | C005273 | 57 / 46 / 40 | 35 / 10 | No. 25 | No. 14 |   | 
| C00007881   | Isosalipurposide | CHEMBL2029165 | C027321 | 1 / 1 / 1 | 0 / 2 | No. 36 | No. 13 |   | 
| C00003672   | Sitosterol / beta-sitosterl / (-)-beta-Sitosterol / Stigmast-5-en-3beta-ol | CHEMBL221542 CHEMBL1398443 CHEMBL1875388 | 17 / 19 / 12 | No. 53 | No. 11 |   | ||
| C00011072   | Delphinidin 3'-O-(2''-O-galloyl-beta-galactopyranoside) | No. 98 |   | |||||
| C00006875   | Delphinidin 3-(2''-galloylgalactoside) | No. 98 |   | |||||
| C00011073   | Delphinidin 3'-O-(2''-O-galloyl-6''-O-acetyl-beta-galactopyranoside) | No. 98 |   | |||||
| C00002647   | Gallic acid | CHEMBL288114 | D005707 | 42 / 53 / 68 | 52 / 16 | No. 817 | No. 81 |   | 
| C00000152   | p-Coumaric acid | CHEMBL66879 CHEMBL2336752 | C032171 | 23 / 13 / 18 | 6 / 1 | No. 904 | No. 6 |   | 
| C00033681   | beta-Sitosterol palmitate | No. 1152 |   | |||||
| C00033546   | 24-Methylenecholesterol palmitate | No. 1152 |   | |||||
| C00030222   | Progallin A / Ethyl gallate | CHEMBL453196 | C048734 | No. 1722 |   | 
| accession | description | class description | KNApSAcK metabolite in interactions | # of diseases (OMIM / KEGG) | 
|---|---|---|---|---|
| P15121 | Aldose reductase | Enzyme | C00000152 C00000982 C00002647 C00005138 C00005373 | 0 / 0 | 
| P35354 | Prostaglandin G/H synthase 2 | Oxidoreductase | C00000152 C00000982 C00002647 C00005373 | 0 / 3 | 
| P14679 | Tyrosinase | Oxidoreductase | C00000152 C00003672 C00005138 C00005373 | 4 / 2 | 
| P03372 | Estrogen receptor | NR3A1 | C00000152 C00000982 C00002647 C00003672 | 1 / 1 | 
| P10635 | Cytochrome P450 2D6 | Cytochrome P450 2D6 | C00000982 C00003672 C00005140 C00005860 | 1 / 0 | 
| Q9NUW8 | Tyrosyl-DNA phosphodiesterase 1 | Enzyme | C00000982 C00002647 C00003672 C00005730 | 1 / 1 | 
| Q9UNA4 | DNA polymerase iota | Enzyme | C00000982 C00005138 C00005373 C00005730 | 0 / 0 | 
| P27695 | DNA-(apurinic or apyrimidinic site) lyase | Enzyme | C00002647 C00005138 C00005373 C00005730 | 0 / 0 | 
| P08684 | Cytochrome P450 3A4 | Cytochrome P450 3A4 | C00000982 C00003672 C00005140 C00005860 | 0 / 1 | 
| P10636 | Microtubule-associated protein tau | Unclassified protein | C00002647 C00005373 C00005730 | 4 / 3 | 
| O94925 | Glutaminase kidney isoform, mitochondrial | Enzyme | C00002647 C00005373 C00005730 | 0 / 0 | 
| Q9Y253 | DNA polymerase eta | Enzyme | C00005138 C00005373 C00005730 | 1 / 1 | 
| P07237 | Protein disulfide-isomerase | Enzyme | C00005138 C00005373 C00005730 | 0 / 0 | 
| Q96KQ7 | Histone-lysine N-methyltransferase EHMT2 | Enzyme | C00002647 C00005373 C00005730 | 0 / 0 | 
| B2RXH2 | Lysine-specific demethylase 4E | Enzyme | C00002647 C00005373 C00005730 | 0 / 0 | 
| P06746 | DNA polymerase beta | Enzyme | C00003672 C00005373 C00005730 | 0 / 0 | 
| Q9UBT6 | DNA polymerase kappa | Enzyme | C00002647 C00005373 C00005730 | 0 / 0 | 
| P00918 | Carbonic anhydrase 2 | Lyase | C00000152 C00002647 | 1 / 2 | 
| Q13093 | Platelet-activating factor acetylhydrolase | Enzyme | C00000152 C00002647 | 3 / 0 | 
| Q16637 | Survival motor neuron protein | Unclassified protein | C00002647 C00005373 | 4 / 1 | 
| P04062 | Glucosylceramidase | Enzyme | C00000982 C00005373 | 6 / 4 | 
| P10253 | Lysosomal alpha-glucosidase | Hydrolase | C00005373 C00005730 | 1 / 1 | 
| Q9Y2D0 | Carbonic anhydrase 5B, mitochondrial | Lyase | C00000152 C00002647 | 0 / 0 | 
| P35218 | Carbonic anhydrase 5A, mitochondrial | Lyase | C00000152 C00002647 | 0 / 0 | 
| P43166 | Carbonic anhydrase 7 | Lyase | C00000152 C00002647 | 0 / 0 | 
| Q99700 | Ataxin-2 | Unclassified protein | C00005138 C00005730 | 1 / 1 | 
| P07451 | Carbonic anhydrase 3 | Lyase | C00000152 C00002647 | 0 / 0 | 
| Q13526 | Peptidyl-prolyl cis-trans isomerase NIMA-interacting 1 | Enzyme | C00005138 C00005730 | 0 / 0 | 
| P18031 | Tyrosine-protein phosphatase non-receptor type 1 | Tyr | C00000982 C00003672 | 0 / 0 | 
| P02545 | Prelamin-A/C | Unclassified protein | C00002647 C00005373 | 11 / 10 | 
| P33261 | Cytochrome P450 2C19 | Cytochrome P450 2C19 | C00000982 C00003672 | 1 / 1 | 
| O75496 | Geminin | Unclassified protein | C00000982 C00005373 | 0 / 0 | 
| P47989 | Xanthine dehydrogenase/oxidase | Oxidoreductase | C00000982 C00005373 | 1 / 1 | 
| P22309 | UDP-glucuronosyltransferase 1-1 | Enzyme | C00000982 C00002647 | 5 / 1 | 
| Q13951 | Core-binding factor subunit beta | Unclassified protein | C00005373 C00005730 | 0 / 1 | 
| Q9UNQ0 | ATP-binding cassette sub-family G member 2 | ATP binding cassette | C00000982 C00005373 | 2 / 0 | 
| P08183 | Multidrug resistance protein 1 | drug | C00000982 C00003672 | 1 / 0 | 
| Q99714 | 3-hydroxyacyl-CoA dehydrogenase type-2 | Enzyme | C00000982 C00002647 | 3 / 3 | 
| P11712 | Cytochrome P450 2C9 | Cytochrome P450 2C9 | C00000982 C00003672 | 0 / 1 | 
| Q16790 | Carbonic anhydrase 9 | Lyase | C00000152 C00002647 | 0 / 1 | 
| P05177 | Cytochrome P450 1A2 | Cytochrome P450 1A2 | C00000982 C00003672 | 0 / 0 | 
| P34949 | Mannose-6-phosphate isomerase | Enzyme | C00005373 C00005730 | 1 / 1 | 
| P28482 | Mitogen-activated protein kinase 1 | Erk | C00002647 C00005373 | 0 / 0 | 
| Q9NR56 | Muscleblind-like protein 1 | Unclassified protein | C00005373 C00005730 | 1 / 0 | 
| Q01196 | Runt-related transcription factor 1 | Unclassified protein | C00005373 C00005730 | 1 / 4 | 
| P04150 | Glucocorticoid receptor | NR3C1 | C00000982 C00002647 | 0 / 1 | 
| P41145 | Kappa-type opioid receptor | Opioid receptor | C00000982 C00005373 | 0 / 0 | 
| P23280 | Carbonic anhydrase 6 | Lyase | C00000152 C00002647 | 0 / 0 | 
| Q9ULX7 | Carbonic anhydrase 14 | Lyase | C00000152 C00002647 | 0 / 0 | 
| P00352 | Retinal dehydrogenase 1 | Enzyme | C00002647 C00005730 | 0 / 0 | 
| Q9UIF8 | Bromodomain adjacent to zinc finger domain protein 2B | Unclassified protein | C00005373 C00005730 | 0 / 0 | 
| O43570 | Carbonic anhydrase 12 | Lyase | C00000152 C00002647 | 1 / 2 | 
| P00915 | Carbonic anhydrase 1 | Lyase | C00000152 C00002647 | 0 / 0 | 
| P36888 | Receptor-type tyrosine-protein kinase FLT3 | Pdgfr | C00000982 C00005373 | 1 / 1 | 
| P22748 | Carbonic anhydrase 4 | Lyase | C00000152 C00002647 | 1 / 1 | 
| P41143 | Delta-type opioid receptor | Opioid receptor | C00000982 C00005373 | 0 / 0 | 
| P39748 | Flap endonuclease 1 | Enzyme | C00005373 C00005730 | 0 / 0 | 
| P35372 | Mu-type opioid receptor | Opioid receptor | C00000982 C00005373 | 0 / 0 | 
| P16152 | Carbonyl reductase [NADPH] 1 | Enzyme | C00000982 | 0 / 0 | 
| Q92830 | Histone acetyltransferase KAT2A | Enzyme | C00002647 | 0 / 0 | 
| P54855 | UDP-glucuronosyltransferase 2B15 | Enzyme | C00000982 | 0 / 0 | 
| Q8TDS4 | Hydroxycarboxylic acid receptor 2 | Hydroxycarboxylic acid receptor | C00000152 | 0 / 0 | 
| Q92731 | Estrogen receptor beta | NR3A2 | C00000982 | 0 / 1 | 
| P42330 | Aldo-keto reductase family 1 member C3 | Enzyme | C00000152 | 0 / 0 | 
| P10145 | Interleukin-8 | Secreted protein | C00002647 | 0 / 0 | 
| P04278 | Sex hormone-binding globulin | Secreted protein | C00000982 | 0 / 0 | 
| P49841 | Glycogen synthase kinase-3 beta | Gsk | C00003672 | 0 / 0 | 
| P16581 | E-selectin | Adhesion | C00002647 | 0 / 0 | 
| P09923 | Intestinal-type alkaline phosphatase | Enzyme | C00005373 | 0 / 0 | 
| P05186 | Alkaline phosphatase, tissue-nonspecific isozyme | Enzyme | C00005373 | 3 / 1 | 
| Q9Y468 | Lethal(3)malignant brain tumor-like protein 1 | Unclassified protein | C00005730 | 0 / 0 | 
| P83916 | Chromobox protein homolog 1 | Unclassified protein | C00005730 | 0 / 0 | 
| Q9NPD5 | Solute carrier organic anion transporter family member 1B3 | Electrochemical transporter | C00000982 | 1 / 0 | 
| O94782 | Ubiquitin carboxyl-terminal hydrolase 1 | Enzyme | C00000982 | 0 / 0 | 
| P00734 | Prothrombin | S1A | C00003672 | 4 / 2 | 
| P11473 | Vitamin D3 receptor | NR1I1 | C00002647 | 2 / 3 | 
| P11511 | Cytochrome P450 19A1 | Cytochrome P450 19A1 | C00000982 | 2 / 2 | 
| P00533 | Epidermal growth factor receptor | TK tyrosine-protein kinase EGFR subfamily | C00000152 | 1 / 8 | 
| P37231 | Peroxisome proliferator-activated receptor gamma | NR1C3 | C00000982 | 5 / 3 | 
| Q16678 | Cytochrome P450 1B1 | Cytochrome P450 1B1 | C00000982 | 4 / 4 | 
| P16083 | Ribosyldihydronicotinamide dehydrogenase [quinone] | Enzyme | C00005140 | 0 / 0 | 
| P06280 | Alpha-galactosidase A | Enzyme | C00005373 | 1 / 1 | 
| P04745 | Alpha-amylase 1 | Enzyme | C00000982 | 0 / 0 | 
| P18054 | Arachidonate 12-lipoxygenase, 12S-type | Enzyme | C00000982 | 2 / 0 | 
| P08581 | Hepatocyte growth factor receptor | TK tyrosine-protein kinase MET subfamily | C00002647 | 2 / 3 | 
| O75828 | Carbonyl reductase [NADPH] 3 | Enzyme | C00000982 | 0 / 0 | 
| P10696 | Alkaline phosphatase, placental-like | Enzyme | C00005373 | 0 / 1 | 
| P24864 | G1/S-specific cyclin-E1 | Other cytosolic protein | C00000982 | 0 / 2 | 
| P24941 | Cyclin-dependent kinase 2 | Cdc2 | C00000982 | 0 / 0 | 
| P78536 | Disintegrin and metalloproteinase domain-containing protein 17 | M12B | C00002647 | 1 / 0 | 
| P04798 | Cytochrome P450 1A1 | Cytochrome P450 1A1 | C00000982 | 0 / 0 | 
| Q92887 | Canalicular multispecific organic anion transporter 1 | Unclassified protein | C00000982 | 1 / 1 | 
| Q04828 | Aldo-keto reductase family 1 member C1 | Enzyme | C00000152 | 0 / 0 | 
| P15428 | 15-hydroxyprostaglandin dehydrogenase [NAD(+)] | Enzyme | C00002647 | 2 / 2 | 
| Q96QE3 | ATPase family AAA domain-containing protein 5 | Unclassified protein | C00005138 | 0 / 0 | 
| Q9HAW9 | UDP-glucuronosyltransferase 1-8 | Enzyme | C00000982 | 0 / 0 | 
| O76074 | cGMP-specific 3',5'-cyclic phosphodiesterase | PDE_5A | C00000982 | 0 / 0 | 
| P18825 | Alpha-2C adrenergic receptor | Adrenergic receptor | C00005373 | 0 / 0 | 
| P12821 | Angiotensin-converting enzyme | M2 | C00002647 | 4 / 2 | 
| P22303 | Acetylcholinesterase | Hydrolase | C00000982 | 1 / 0 | 
| P16473 | Thyrotropin receptor | Glycohormone receptor | C00003672 | 3 / 2 | 
| P14151 | L-selectin | Adhesion | C00002647 | 0 / 0 | 
| P16109 | P-selectin | Adhesion | C00002647 | 1 / 0 | 
| P08047 | Transcription factor Sp1 | Unclassified protein | C00003672 | 0 / 0 | 
| P37059 | Estradiol 17-beta-dehydrogenase 2 | Enzyme | C00000982 | 0 / 0 | 
| P62158 | Calmodulin | Unclassified protein | C00000982 | 1 / 0 | 
| P98170 | E3 ubiquitin-protein ligase XIAP | Other cytosolic protein | C00005140 | 1 / 1 | 
| Q03181 | Peroxisome proliferator-activated receptor delta | NR1C2 | C00000982 | 0 / 0 | 
| P52895 | Aldo-keto reductase family 1 member C2 | Enzyme | C00000152 | 1 / 0 | 
| O75164 | Lysine-specific demethylase 4A | Enzyme | C00005730 | 0 / 0 | 
| P04406 | Glyceraldehyde-3-phosphate dehydrogenase | Enzyme | C00002647 | 0 / 0 | 
| O60218 | Aldo-keto reductase family 1 member B10 | Enzyme | C00000152 | 0 / 0 | 
| P49798 | Regulator of G-protein signaling 4 | Unclassified protein | C00003672 | 2 / 0 | 
| Q16236 | Nuclear factor erythroid 2-related factor 2 | Unclassified protein | C00002647 | 0 / 0 | 
| P08908 | 5-hydroxytryptamine receptor 1A | Serotonin receptor | C00005373 | 1 / 0 | 
| P10275 | Androgen receptor | NR3C4 | C00000982 | 3 / 4 | 
| Q07869 | Peroxisome proliferator-activated receptor alpha | NR1C1 | C00000982 | 0 / 0 | 
| Q9HAW8 | UDP-glucuronosyltransferase 1-10 | Enzyme | C00000982 | 0 / 0 | 
| Q04760 | Lactoylglutathione lyase | Enzyme | C00000982 | 0 / 0 | 
| O94956 | Solute carrier organic anion transporter family member 2B1 | Unclassified protein | C00000982 | 0 / 0 | 
| P49888 | Estrogen sulfotransferase | Enzyme | C00000982 | 0 / 0 | 
| Q9Y6L6 | Solute carrier organic anion transporter family member 1B1 | Electrochemical transporter | C00000982 | 1 / 0 | 
| P80365 | Corticosteroid 11-beta-dehydrogenase isozyme 2 | Enzyme | C00003672 | 1 / 1 | 
| Q9NPH5 | NADPH oxidase 4 | Enzyme | C00005373 | 0 / 0 | 
| P17516 | Aldo-keto reductase family 1 member C4 | Enzyme | C00000152 | 1 / 0 | 
| P46063 | ATP-dependent DNA helicase Q1 | Enzyme | C00005730 | 0 / 0 | 
| P04637 | Cellular tumor antigen p53 | Transcription Factor | C00002647 | 7 / 37 | 
| P13866 | Sodium/glucose cotransporter 1 | Glucose | C00007881 | 1 / 1 | 
| O00255 | Menin | Unclassified protein | C00000982 | 2 / 5 | 
| Q03164 | Histone-lysine N-methyltransferase 2A | Enzyme | C00000982 | 1 / 2 | 
| P22310 | UDP-glucuronosyltransferase 1-4 | Enzyme | C00000982 | 3 / 0 | 
| P33527 | Multidrug resistance-associated protein 1 | drugs | C00000982 | 0 / 0 | 
| P14061 | Estradiol 17-beta-dehydrogenase 1 | Enzyme | C00000982 | 0 / 0 | 
| P01215 | Glycoprotein hormones alpha chain | Unclassified protein | C00005138 | 0 / 3 | 
| gene | gene name | gene description | KNApSAcK metabolite in interactions | 
|---|---|---|---|
| 6817 | SULT1A1, HAST1/HAST2, P-PST, PST, ST1A1, ST1A3, STP, STP1, TSPST1 | sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (EC:2.8.2.1) | C00000152
                          C00000982
                          C00002647 | 
| 3576 | IL8, CXCL8, GCP-1, GCP1, LECT, LUCT, LYNAP, MDNCF, MONAP, NAF, NAP-1, NAP1 | interleukin 8 | C00000982
                          C00002647 | 
| 7157 | TP53, BCC7, LFS1, P53, TRP53 | tumor protein p53 | C00000982
                          C00002647 | 
| 7124 | TNF, DIF, TNF-alpha, TNFA, TNFSF2 | tumor necrosis factor | C00000982
                          C00002647 | 
| 207 | AKT1, AKT, CWS6, PKB, PKB-ALPHA, PRKBA, RAC, RAC-ALPHA | v-akt murine thymoma viral oncogene homolog 1 (EC:2.7.11.1) | C00000982
                          C00002647 | 
| 5743 | PTGS2, COX-2, COX2, GRIPGHS, PGG/HS, PGHS-2, PHS-2, hCox-2 | prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (EC:1.14.99.1) | C00000152
                          C00002647 | 
| 1544 | CYP1A2, CP12, P3-450, P450(PA) | cytochrome P450, family 1, subfamily A, polypeptide 2 (EC:1.14.14.1) | C00000152
                          C00000982 | 
| 1543 | CYP1A1, AHH, AHRR, CP11, CYP1, P1-450, P450-C, P450DX | cytochrome P450, family 1, subfamily A, polypeptide 1 (EC:1.14.14.1) | C00000152
                          C00000982 | 
| 836 | CASP3, CPP32, CPP32B, SCA-1 | caspase 3, apoptosis-related cysteine peptidase (EC:3.4.22.56) | C00000982
                          C00002647 | 
| 596 | BCL2, Bcl-2, PPP1R50 | B-cell CLL/lymphoma 2 | C00000982
                          C00002647 | 
| 5595 | MAPK3, ERK-1, ERK1, ERT2, HS44KDAP, HUMKER1A, P44ERK1, P44MAPK, PRKM3, p44-ERK1, p44-MAPK | mitogen-activated protein kinase 3 (EC:2.7.11.24) | C00002647 | 
| 842 | CASP9, APAF-3, APAF3, ICE-LAP6, MCH6, PPP1R56 | caspase 9, apoptosis-related cysteine peptidase (EC:3.4.22.62) | C00000982 | 
| 1588 | CYP19A1, ARO, ARO1, CPV1, CYAR, CYP19, CYPXIX, P-450AROM | cytochrome P450, family 19, subfamily A, polypeptide 1 (EC:1.14.14.1) | C00000982 | 
| 249 | ALPL, AP-TNAP, APTNAP, HOPS, TNAP, TNSALP | alkaline phosphatase, liver/bone/kidney (EC:3.1.3.1) | C00000982 | 
| 4363 | ABCC1, ABC29, ABCC, GS-X, MRP, MRP1 | ATP-binding cassette, sub-family C (CFTR/MRP), member 1 | C00000982 | 
| 1545 | CYP1B1, CP1B, CYPIB1, GLC3A, P4501B1 | cytochrome P450, family 1, subfamily B, polypeptide 1 (EC:1.14.14.1) | C00000982 | 
| 1559 | CYP2C9, CPC9, CYP2C, CYP2C10, CYPIIC9, P450IIC9 | cytochrome P450, family 2, subfamily C, polypeptide 9 (EC:1.14.13.48 1.14.13.49 1.14.13.80) | C00000982 | 
| 1576 | CYP3A4, CP33, CP34, CYP3A, CYP3A3, CYPIIIA3, CYPIIIA4, HLP, NF-25, P450C3, P450PCN1 | cytochrome P450, family 3, subfamily A, polypeptide 4 (EC:1.14.13.67 1.14.13.97 1.14.13.32 1.14.13.157) | C00000982 | 
| 2099 | ESR1, ER, ESR, ESRA, ESTRR, Era, NR3A1 | estrogen receptor 1 | C00000982 | 
| 2100 | ESR2, ER-BETA, ESR-BETA, ESRB, ESTRB, Erb, NR3A2 | estrogen receptor 2 (ER beta) | C00000982 | 
| 8644 | AKR1C3, DD3, DDX, HA1753, HAKRB, HAKRe, HSD17B5, PGFS, hluPGFS | aldo-keto reductase family 1, member C3 (EC:1.3.1.20 1.1.1.188 1.1.1.239 1.1.1.64 1.1.1.112 1.1.1.357) | C00000982 | 
| 3757 | KCNH2, ERG1, HERG, HERG1, Kv11.1, LQT2, SQT1 | potassium voltage-gated channel, subfamily H (eag-related), member 2 | C00000982 | 
| 5444 | PON1, ESA, MVCD5, PON | paraoxonase 1 (EC:3.1.1.2 3.1.8.1 3.1.1.81) | C00000982 | 
| 6566 | SLC16A1, HHF7, MCT, MCT1 | solute carrier family 16 (monocarboxylate transporter), member 1 | C00000982 | 
| 6513 | SLC2A1, DYT17, DYT18, DYT9, EIG12, GLUT, GLUT1, GLUT1DS, HTLVR, PED | solute carrier family 2 (facilitated glucose transporter), member 1 | C00000982 | 
| 1645 | AKR1C1, 2-ALPHA-HSD, 20-ALPHA-HSD, C9, DD1, DD1/DD2, DDH, DDH1, H-37, HAKRC, HBAB, MBAB | aldo-keto reductase family 1, member C1 (EC:1.3.1.20 1.1.1.149 1.1.1.112) | C00000982 | 
| 6818 | SULT1A3, HAST, HAST3, M-PST, ST1A3/ST1A4, ST1A5, STM, TL-PST | sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3 (EC:2.8.2.1) | C00000982 | 
| 196 | AHR, bHLHe76 | aryl hydrocarbon receptor | C00000982 | 
| 10057 | ABCC5, ABC33, EST277145, MOAT-C, MOATC, MRP5, SMRP, pABC11 | ATP-binding cassette, sub-family C (CFTR/MRP), member 5 | C00000982 | 
| 54658 | UGT1A1, BILIQTL1, GNT1, HUG-BR1, UDPGT, UDPGT_1-1, UGT1, UGT1A | UDP glucuronosyltransferase 1 family, polypeptide A1 (EC:2.4.1.17) | C00000982 | 
| 54575 | UGT1A10, UDPGT, UGT-1J, UGT1-10, UGT1.10, UGT1J | UDP glucuronosyltransferase 1 family, polypeptide A10 (EC:2.4.1.17) | C00000982 | 
| 54577 | UGT1A7, UDPGT, UDPGT_1-7, UGT-1G, UGT1-07, UGT1.7, UGT1G | UDP glucuronosyltransferase 1 family, polypeptide A7 (EC:2.4.1.17) | C00000982 | 
| 54576 | UGT1A8, UDPGT, UDPGT_1-8, UGT-1H, UGT1-08, UGT1.8, UGT1A8S, UGT1H | UDP glucuronosyltransferase 1 family, polypeptide A8 (EC:2.4.1.17) | C00000982 | 
| 54600 | UGT1A9, HLUGP4, LUGP4, UDPGT, UDPGT_1-9, UGT-1I, UGT1-09, UGT1-9, UGT1.9, UGT1AI, UGT1I | UDP glucuronosyltransferase 1 family, polypeptide A9 (EC:2.4.1.17) | C00000982 | 
| 7366 | UGT2B15, HLUG4, UDPGT_2B8, UDPGT2B15, UDPGTH3, UGT2B8 | UDP glucuronosyltransferase 2 family, polypeptide B15 (EC:2.4.1.17) | C00000982 | 
| 4846 | NOS3, ECNOS, eNOS | nitric oxide synthase 3 (endothelial cell) (EC:1.14.13.39) | C00000152 | 
| 10257 | ABCC4, EST170205, MOAT-B, MOATB, MRP4 | ATP-binding cassette, sub-family C (CFTR/MRP), member 4 | C00000982 | 
| 7299 | TYR, ATN, CMM8, OCA1, OCA1A, OCAIA, SHEP3 | tyrosinase (EC:1.14.18.1) | C00000152 | 
| 5243 | ABCB1, ABC20, CD243, CLCS, GP170, MDR1, P-GP, PGY1 | ATP-binding cassette, sub-family B (MDR/TAP), member 1 (EC:3.6.3.44) | C00002647 | 
| 25 | ABL1, ABL, JTK7, bcr/abl, c-ABL, p150, v-abl | c-abl oncogene 1, non-receptor tyrosine kinase (EC:2.7.10.2) | C00002647 | 
| 338 | APOB, FLDB, LDLCQ4 | apolipoprotein B | C00002647 | 
| 472 | ATM, AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1 | ataxia telangiectasia mutated (EC:2.7.11.1) | C00002647 | 
| 545 | ATR, FCTCS, FRP1, MEC1, SCKL, SCKL1 | ataxia telangiectasia and Rad3 related (EC:2.7.11.1) | C00002647 | 
| 581 | BAX, BCL2L4 | BCL2-associated X protein | C00002647 | 
| 613 | BCR, ALL, BCR1, CML, D22S11, D22S662, PHL | breakpoint cluster region (EC:2.7.11.1) | C00002647 | 
| 841 | CASP8, ALPS2B, CAP4, Casp-8, FLICE, MACH, MCH5 | caspase 8, apoptosis-related cysteine peptidase (EC:3.4.22.61) | C00002647 | 
| 898 | CCNE1, CCNE | cyclin E1 | C00002647 | 
| 998 | CDC42, CDC42Hs, G25K | cell division cycle 42 | C00002647 | 
| 1026 | CDKN1A, CAP20, CDKN1, CIP1, MDA-6, P21, SDI1, WAF1, p21CIP1 | cyclin-dependent kinase inhibitor 1A (p21, Cip1) | C00002647 | 
| 1027 | CDKN1B, CDKN4, KIP1, MEN1B, MEN4, P27KIP1 | cyclin-dependent kinase inhibitor 1B (p27, Kip1) | C00002647 | 
| 1147 | CHUK, IKBKA, IKK-alpha, IKK1, IKKA, NFKBIKA, TCF16 | conserved helix-loop-helix ubiquitous kinase (EC:2.7.11.10) | C00002647 | 
| 7852 | CXCR4, CD184, D2S201E, FB22, HM89, HSY3RR, LAP3, LCR1, LESTR, NPY3R, NPYR, NPYRL, NPYY3R, WHIM | chemokine (C-X-C motif) receptor 4 | C00002647 | 
| 54205 | CYCS, CYC, HCS, THC4 | cytochrome c, somatic | C00002647 | 
| 356 | FASLG, ALPS1B, APT1LG1, APTL, CD178, CD95-L, CD95L, FASL, TNFSF6 | Fas ligand (TNF superfamily, member 6) | C00002647 | 
| 2551 | GABPA, E4TF1-60, E4TF1A, NFT2, NRF2, NRF2A, RCH04A07 | GA binding protein transcription factor, alpha subunit 60kDa | C00002647 | 
| 2885 | GRB2, ASH, EGFRBP-GRB2, Grb3-3, MST084, MSTP084, NCKAP2 | growth factor receptor-bound protein 2 | C00002647 | 
| 3551 | IKBKB, IKK-beta, IKK2, IKKB, NFKBIKB | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (EC:2.7.11.10) | C00002647 | 
| 3569 | IL6, BSF2, HGF, HSF, IFNB2, IL-6 | interleukin 6 (interferon, beta 2) | C00002647 | 
| 3949 | LDLR, FH, FHC, LDLCQ2 | low density lipoprotein receptor | C00002647 | 
| 5604 | MAP2K1, CFC3, MAPKK1, MEK1, MKK1, PRKMK1 | mitogen-activated protein kinase kinase 1 (EC:2.7.12.2) | C00002647 | 
| 5594 | MAPK1, ERK, ERK2, ERT1, MAPK2, P42MAPK, PRKM1, PRKM2, p38, p40, p41, p41mapk | mitogen-activated protein kinase 1 (EC:2.7.11.24) | C00002647 | 
| 405 | ARNT, HIF-1-beta, HIF-1beta, HIF1-beta, HIF1B, HIF1BETA, TANGO, bHLHe2 | aryl hydrocarbon receptor nuclear translocator | C00000982 | 
| 5599 | MAPK8, JNK, JNK-46, JNK1, JNK1A2, JNK21B1/2, PRKM8, SAPK1, SAPK1c | mitogen-activated protein kinase 8 (EC:2.7.11.24) | C00002647 | 
| 5601 | MAPK9, JNK-55, JNK2, JNK2A, JNK2ALPHA, JNK2B, JNK2BETA, PRKM9, SAPK, SAPK1a, p54a, p54aSAPK | mitogen-activated protein kinase 9 (EC:2.7.11.24) | C00002647 | 
| 4255 | MGMT | O-6-methylguanine-DNA methyltransferase (EC:2.1.1.63) | C00002647 | 
| 4313 | MMP2, CLG4, CLG4A, MMP-II, MONA, TBE-1 | matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (EC:3.4.24.24) | C00002647 | 
| 4316 | MMP7, MMP-7, MPSL1, PUMP-1 | matrix metallopeptidase 7 (matrilysin, uterine) (EC:3.4.24.23) | C00002647 | 
| 4318 | MMP9, CLG4B, GELB, MANDP2, MMP-9 | matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (EC:3.4.24.35) | C00002647 | 
| 4793 | NFKBIB, IKBB, TRIP9 | nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta | C00002647 | 
| 5578 | PRKCA, AAG6, PKC-alpha, PKCA, PRKACA | protein kinase C, alpha (EC:2.7.11.13) | C00002647 | 
| 5591 | PRKDC, DNA-PKcs, DNAPK, DNPK1, HYRC, HYRC1, XRCC7, p350 | protein kinase, DNA-activated, catalytic polypeptide (EC:2.7.11.1) | C00002647 | 
| 5879 | RAC1, Rac-1, TC-25, p21-Rac1 | ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) | C00002647 | 
| 19412 | C00002647 | ||
| 5970 | RELA, NFKB3, p65 | v-rel avian reticuloendotheliosis viral oncogene homolog A | C00002647 | 
| 387 | RHOA, ARH12, ARHA, RHO12, RHOH12 | ras homolog family member A | C00002647 | 
| 388 | RHOB, ARH6, ARHB, MST081, MSTP081, RHOH6 | ras homolog family member B | C00002647 | 
| 6195 | RPS6KA1, HU-1, MAPKAPK1A, RSK, RSK1 | ribosomal protein S6 kinase, 90kDa, polypeptide 1 (EC:2.7.11.1) | C00002647 | 
| 9252 | RPS6KA5, MSK1, MSPK1, RLPK | ribosomal protein S6 kinase, 90kDa, polypeptide 5 (EC:2.7.11.1) | C00002647 | 
| 6622 | SNCA, NACP, PARK1, PARK4, PD1 | synuclein, alpha (non A4 component of amyloid precursor) | C00002647 | 
| 7224 | TRPC5, TRP5 | transient receptor potential cation channel, subfamily C, member 5 | C00002647 | 
| 7422 | VEGFA, MVCD1, VEGF, VPF | vascular endothelial growth factor A | C00002647 | 
| 331 | XIAP, API3, BIRC4, IAP-3, ILP1, MIHA, XLP2, hIAP-3, hIAP3 | X-linked inhibitor of apoptosis | C00002647 | 
| OMIM | preferred title | UniProt | 
|---|---|---|
| #300438 | 17-beta-hydroxysteroid dehydrogenase x deficiency | Q99714 | 
| #614279 | 46,xy sex reversal 8; srxy8 | P17516 P52895 | 
| #202300 | Adrenocortical carcinoma, hereditary; adcc | P04637 | 
| #103470 | Albinism, ocular, with sensorineural deafness | P14679 | 
| #203100 | Albinism, oculocutaneous, type ia; oca1a | P14679 | 
| #606952 | Albinism, oculocutaneous, type ib; oca1b | P14679 | 
| #300068 | Androgen insensitivity syndrome; ais | P10275 | 
| #312300 | Androgen insensitivity, partial; pais | P10275 | 
| #218030 | Apparent mineralocorticoid excess; ame | P80365 | 
| #613546 | Aromatase deficiency | P11511 | 
| #139300 | Aromatase excess syndrome; aexs | P11511 | 
| #600807 | Asthma, susceptibility to | Q13093 | 
| #614740 | Basal cell carcinoma, susceptibility to, 7; bcc7 | P04637 | 
| #601816 | Bilirubin, serum level of, quantitative trait locus 1; biliqtl1 | P22309 | 
| #614490 | Blood group, junior system; jr | Q9UNQ0 | 
| %606641 | Body mass index; bmi | P37231 | 
| #115200 | Cardiomyopathy, dilated, 1a; cmd1a | P02545 | 
| #212112 | Cardiomyopathy, dilated, with hypergonadotropic hypogonadism | P02545 | 
| #609338 | Carotid intimal medial thickness 1 | P37231 | 
| #605588 | Charcot-marie-tooth disease, axonal, type 2b1; cmt2b1 | P02545 | 
| #114500 | Colorectal cancer; crc | P18054 | 
| #602579 | Congenital disorder of glycosylation, type ib; cdg1b | P34949 | 
| #218800 | Crigler-najjar syndrome, type i | P22309 P22310 | 
| #606785 | Crigler-najjar syndrome, type ii | P22309 P22310 | 
| #119900 | Digital clubbing, isolated congenital | P15428 | 
| #609535 | Drug metabolism, poor, cyp2c19-related | P33261 | 
| #608902 | Drug metabolism, poor, cyp2d6-related | P10635 | 
| #237500 | Dubin-johnson syndrome; djs | Q92887 | 
| #181350 | Emery-dreifuss muscular dystrophy 2, autosomal dominant; edmd2 | P02545 | 
| #133239 | Esophageal cancer | P04637 P18054 | 
| #615363 | Estrogen resistance; estrr | P03372 | 
| #301500 | Fabry disease | P06280 | 
| #600274 | Frontotemporal dementia; ftd | P10636 | 
| #608013 | Gaucher disease, perinatal lethal | P04062 | 
| #230800 | Gaucher disease, type i | P04062 | 
| #230900 | Gaucher disease, type ii | P04062 | 
| #231000 | Gaucher disease, type iii | P04062 | 
| #231005 | Gaucher disease, type iiic | P04062 | 
| #143500 | Gilbert syndrome | P22309 P22310 | 
| #137750 | Glaucoma 1, open angle, a; glc1a | Q16678 | 
| #231300 | Glaucoma 3, primary congenital, a; glc3a | Q16678 | 
| #137760 | Glaucoma, primary open angle; poag | Q16678 | 
| #137800 | Glioma susceptibility 1; glm1 | P37231 | 
| #606824 | Glucose/galactose malabsorption; ggm | P13866 | 
| #232300 | Glycogen storage disease ii | P10253 | 
| #605130 | Hairy elbows, short stature, facial dysmorphism, and developmental delay | Q03164 | 
| #610140 | Heart-hand syndrome, slovenian type | P02545 | 
| #614519 | Hemorrhage, intracerebral, susceptibility to; ich | P12821 | 
| #114550 | Hepatocellular carcinoma | P08581 | 
| #176670 | Hutchinson-gilford progeria syndrome; hgps | P02545 | 
| #237450 | Hyperbilirubinemia, rotor type; hblrr | Q9NPD5 Q9Y6L6 | 
| #237900 | Hyperbilirubinemia, transient familial neonatal; hblrtfn | P22309 | 
| #143860 | Hyperchlorhidrosis, isolated | O43570 | 
| #145000 | Hyperparathyroidism 1; hrpt1 | O00255 | 
| #603373 | Hyperthyroidism, familial gestational | P16473 | 
| #609152 | Hyperthyroidism, nonautoimmune | P16473 | 
| #259100 | Hypertrophic osteoarthropathy, primary, autosomal recessive, 1; phoar1 | P15428 | 
| #146300 | Hypophosphatasia, adult | P05186 | 
| #241510 | Hypophosphatasia, childhood | P05186 | 
| #241500 | Hypophosphatasia, infantile | P05186 | 
| #275200 | Hypothyroidism, congenital, nongoitrous, 1; chng1 | P16473 | 
| #147050 | Ige responsiveness, atopic; iger | Q13093 | 
| #612244 | Inflammatory bowel disease 13; ibd13 | P08183 | 
| #614328 | Inflammatory skin and bowel disease, neonatal; nisbd | P78536 | 
| #601626 | Leukemia, acute myeloid; aml | P36888 | 
| #151623 | Li-fraumeni syndrome 1; lfs1 | P04637 | 
| #151660 | Lipodystrophy, familial partial, type 2; fpld2 | P02545 | 
| #604367 | Lipodystrophy, familial partial, type 3; fpld3 | P37231 | 
| #211980 | Lung cancer | P00533 P04637 | 
| #300635 | Lymphoproliferative syndrome, x-linked, 2; xlp2 | P98170 | 
| #248370 | Mandibuloacral dysplasia with type a lipodystrophy; mada | P02545 | 
| #300705 | Mental retardation, x-linked 17; mrx17 | Q99714 | 
| #300220 | Mental retardation, x-linked, syndromic 10; mrxs10 | Q99714 | 
| #612624 | Microvascular complications of diabetes, susceptibility to, 3; mvcd3 | P12821 | 
| #131100 | Multiple endocrine neoplasia, type i; men1 | O00255 | 
| #613205 | Muscular dystrophy, congenital, lmna-related | P02545 | 
| #159001 | Muscular dystrophy, limb-girdle, type 1b; lgmd1b | P02545 | 
| #607948 | Mycobacterium tuberculosis, susceptibility to | P11473 | 
| #160900 | Myotonic dystrophy 1; dm1 | Q9NR56 | 
| #601665 | Obesity | P37231 | 
| #259730 | Osteopetrosis, autosomal recessive 3; optb3 | P00918 | 
| #260500 | Papilloma of choroid plexus; cpp | P04637 | 
| #168600 | Parkinson disease, late-onset; pd | P04062 | 
| #260540 | Parkinson-dementia syndrome | P10636 | 
| #614674 | Periodic fever, menstrual cycle-dependent | P08908 | 
| #604229 | Peters anomaly | Q16678 | 
| #172700 | Pick disease of brain | P10636 | 
| #601399 | Platelet disorder, familial, with associated myeloid malignancy | Q01196 | 
| #614278 | Platelet-activating factor acetylhydrolase deficiency; pafad | Q13093 | 
| #614390 | Pregnancy loss, recurrent, susceptibility to, 2; rprgl2 | P00734 | 
| #613679 | Prothrombin deficiency, congenital | P00734 | 
| #605074 | Renal cell carcinoma, papillary, 1; rccp1 | P08581 | 
| #267430 | Renal tubular dysgenesis; rtd | P12821 | 
| #275210 | Restrictive dermopathy, lethal | P02545 | 
| #600852 | Retinitis pigmentosa 17; rp17 | P22748 | 
| #604906 | Schizophrenia 9; sczd9 | P49798 | 
| #181500 | Schizophrenia; sczd | P49798 | 
| #601800 | Skin/hair/eye pigmentation, variation in, 3; shep3 | P14679 | 
| #313200 | Spinal and bulbar muscular atrophy, x-linked 1; smax1 | P10275 | 
| #253300 | Spinal muscular atrophy, type i; sma1 | Q16637 | 
| #253550 | Spinal muscular atrophy, type ii; sma2 | Q16637 | 
| #253400 | Spinal muscular atrophy, type iii; sma3 | Q16637 | 
| #271150 | Spinal muscular atrophy, type iv; sma4 | Q16637 | 
| #183090 | Spinocerebellar ataxia 2; sca2 | Q99700 | 
| #607250 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy; scan1 | Q9NUW8 | 
| #275355 | Squamous cell carcinoma, head and neck; hnscc | P04637 | 
| #601367 | Stroke, ischemic | P00734 P12821 P16109 | 
| #601104 | Supranuclear palsy, progressive, 1; psnp1 | P10636 | 
| #188050 | Thrombophilia due to thrombin defect; thph1 | P00734 | 
| #138900 | Uric acid concentration, serum, quantitative trait locus 1; uaqtl1 | Q9UNQ0 | 
| #614916 | Ventricular tachycardia, catecholaminergic polymorphic, 4; cpvt4 | P62158 | 
| #277440 | Vitamin d-dependent rickets, type 2a; vddr2a | P11473 | 
| #278300 | Xanthinuria, type i | P47989 | 
| #278750 | Xeroderma pigmentosum, variant type; xpv | Q9Y253 | 
| #112100 | Yt blood group antigen | P22303 | 
| KEGG | name | UniProt | 
|---|---|---|
| H00033 | Adrenal carcinoma | O00255
                            (related) P04637 (related) | 
| H00034 | Carcinoid | O00255
                            (related) | 
| H00045 | Malignant islet cell carcinoma | O00255
                            (related) | 
| H00246 | Primary hyperparathyroidism | O00255
                            (related) | 
| H01102 | Pituitary adenomas | O00255
                            (related) | 
| H01302 | Hyperchlorhidrosis isolated (HCHLH) | O43570
                            (related) | 
| H00021 | Renal cell carcinoma | O43570
                            (marker) P04637 (marker) P08581 (related) Q16790 (marker) | 
| H00016 | Oral cancer | P00533
                            (related) P00533 (marker) P04637 (related) P04637 (marker) | 
| H00017 | Esophageal cancer | P00533
                            (related) P04637 (related) P04637 (marker) P35354 (related) | 
| H00018 | Gastric cancer | P00533
                            (related) P04637 (related) P08581 (related) P24864 (related) | 
| H00022 | Bladder cancer | P00533
                            (related) P04637 (related) | 
| H00028 | Choriocarcinoma | P00533
                            (related) P04637 (related) | 
| H00030 | Cervical cancer | P00533
                            (related) | 
| H00042 | Glioma | P00533
                            (related) P00533 (marker) P04637 (related) P04637 (marker) | 
| H00055 | Laryngeal cancer | P00533
                            (related) P00533 (marker) P04637 (related) P04637 (marker) P24864 (related) | 
| H00223 | Inherited thrombophilia | P00734
                            (related) | 
| H01254 | Congenital prothrombin deficiency | P00734
                            (related) | 
| H00241 | Combined proximal and distal renal tubular acidosis (RTA type 3) | P00918
                            (related) | 
| H00436 | Osteopetrosis | P00918
                            (related) | 
| H00081 | Hashimoto's thyroiditis | P01215
                            (marker) | 
| H00082 | Graves' disease | P01215
                            (marker) | 
| H00250 | Congenital nongoitrous hypothyroidism (CHNG) | P01215
                            (marker) P16473 (related) | 
| H00264 | Charcot-Marie-Tooth disease (CMT) | P02545
                            (related) | 
| H00294 | Dilated cardiomyopathy (DCM) | P02545
                            (related) | 
| H00420 | Familial partial lipodystrophy (FPL) | P02545
                            (related) P37231 (related) | 
| H00563 | Emery-Dreifuss muscular dystrophy | P02545
                            (related) | 
| H00590 | Congenital muscular dystrophies (CMD/MDC) | P02545
                            (related) | 
| H00593 | Limb-girdle muscular dystrophy (LGMD) | P02545
                            (related) | 
| H00601 | Hutchinson-Gilford progeria syndrome | P02545
                            (related) | 
| H00663 | Restrictive dermopathy | P02545
                            (related) | 
| H00665 | Mandibuloacral dysplasia | P02545
                            (related) | 
| H01216 | Left ventricular noncompaction (LVNC) | P02545
                            (related) | 
| H00026 | Endometrial Cancer | P03372
                            (marker) P04637 (related) Q92731 (marker) | 
| H00066 | Lewy body dementia (LBD) | P04062
                            (related) | 
| H00126 | Gaucher disease | P04062
                            (related) | 
| H00426 | Defects in the degradation of ganglioside | P04062
                            (related) | 
| H00810 | Progressive myoclonic epilepsy (PME) | P04062
                            (related) | 
| H00599 | 46,XX disorders of sex development (Disorders related to androgen excess) | P04150
                            (related) P11511 (related) | 
| H00004 | Chronic myeloid leukemia (CML) | P04637
                            (related) Q01196 (related) | 
| H00005 | Chronic lymphocytic leukemia (CLL) | P04637
                            (related) | 
| H00006 | Hairy-cell leukemia | P04637
                            (related) | 
| H00008 | Burkitt lymphoma | P04637
                            (related) | 
| H00009 | Adult T-cell leukemia | P04637
                            (related) | 
| H00010 | Multiple myeloma | P04637
                            (related) | 
| H00013 | Small cell lung cancer | P04637
                            (related) | 
| H00014 | Non-small cell lung cancer | P04637
                            (related) | 
| H00015 | Malignant pleural mesothelioma | P04637
                            (related) | 
| H00019 | Pancreatic cancer | P04637
                            (related) P04637 (marker) | 
| H00020 | Colorectal cancer | P04637
                            (related) P04637 (marker) | 
| H00025 | Penile cancer | P04637
                            (related) P04637 (marker) P35354 (related) | 
| H00027 | Ovarian cancer | P04637
                            (related) | 
| H00029 | Vulvar cancer | P04637
                            (related) | 
| H00031 | Breast cancer | P04637
                            (related) | 
| H00032 | Thyroid cancer | P04637
                            (related) P37231 (related) | 
| H00036 | Osteosarcoma | P04637
                            (related) P08684 (marker) | 
| H00038 | Malignant melanoma | P04637
                            (related) P14679 (marker) | 
| H00039 | Basal cell carcinoma | P04637
                            (related) | 
| H00040 | Squamous cell carcinoma | P04637
                            (related) | 
| H00041 | Kaposi's sarcoma | P04637
                            (related) | 
| H00044 | Cancer of the anal canal | P04637
                            (related) | 
| H00046 | Cholangiocarcinoma | P04637
                            (related) P08581 (related) P35354 (related) | 
| H00047 | Gallbladder cancer | P04637
                            (related) | 
| H00048 | Hepatocellular carcinoma | P04637
                            (related) | 
| H00881 | Li-Fraumeni syndrome | P04637
                            (related) | 
| H01007 | Choroid plexus papilloma | P04637
                            (related) | 
| H00213 | Hypophosphatasia | P05186
                            (related) | 
| H00125 | Fabry disease | P06280
                            (related) | 
| H00069 | Glycogen storage diseases (GSD) | P10253
                            (related) | 
| H00024 | Prostate cancer | P10275
                            (related) | 
| H00062 | Spinal and bulbar muscular atrophy (SBMA) | P10275
                            (related) | 
| H00608 | 46,XY disorders of sex development (Disorders in androgen synthesis or action) | P10275
                            (related) | 
| H00609 | 46,XY disorders of sex development (Other) | P10275
                            (related) | 
| H00058 | Amyotrophic lateral sclerosis (ALS) | P10636
                            (related) | 
| H00077 | Progressive supranuclear palsy (PSP) | P10636
                            (related) | 
| H00078 | Frontotemporal lobar degeneration (FTLD) | P10636
                            (related) | 
| H00023 | Testicular cancer | P10696
                            (marker) | 
| H00342 | Tuberculosis | P11473
                            (related) | 
| H00784 | Localized autosomal recessive hypotrichosis | P11473
                            (related) | 
| H01143 | Vitamin D-dependent rickets | P11473
                            (related) | 
| H00794 | Aromatase excess syndrome | P11511
                            (related) | 
| H01205 | Coumarin resistance | P11712
                            (related) | 
| H00083 | Allograft rejection | P12821
                            (related) | 
| H00575 | Renal tubular dysgenesis | P12821
                            (related) | 
| H01261 | Congenital glucose-galactose malabsorption (GGM) | P13866
                            (related) | 
| H00168 | Oculocutaneous albinism (OCA) | P14679
                            (related) | 
| H00457 | Primary hypertrophic osteoarthropathy (PHO) | P15428
                            (related) | 
| H01246 | Isolated congenital nail clubbing (ICNC) | P15428
                            (related) | 
| H01269 | Congenital hyperthyroidism | P16473
                            (related) | 
| H00208 | Hyperbilirubinemia | P22309
                            (related) Q92887 (related) | 
| H00527 | Retinitis pigmentosa (RP) | P22748
                            (related) | 
| H01171 | Poor drug metabolism (PM) | P33261
                            (related) | 
| H00118 | Congenital disorders of glycosylation (CDG) type I | P34949
                            (related) | 
| H00003 | Acute myeloid leukemia (AML) | P36888
                            (related) Q01196 (related) Q01196 (marker) Q13951 (marker) | 
| H00409 | Type II diabetes mellitus | P37231
                            (related) | 
| H00192 | Xanthinuria | P47989
                            (related) | 
| H00259 | Apparent mineralocorticoid excess syndrome | P80365
                            (related) | 
| H00107 | Other well-defined immunodeficiency syndromes | P98170
                            (related) | 
| H00001 | Acute lymphoblastic leukemia (ALL) (precursor B lymphoblastic leukemia) | Q01196
                            (related) Q01196 (marker) Q03164 (related) Q03164 (marker) | 
| H00978 | Thrombocytopenia (THC) | Q01196
                            (related) | 
| H00002 | Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia) | Q03164
                            (related) | 
| H00455 | Spinal muscular atrophy (SMA) | Q16637
                            (related) | 
| H00612 | Primary open angle glaucoma | Q16678
                            (related) | 
| H01075 | Peters anomaly | Q16678
                            (related) | 
| H01159 | Anterior segment dysgenesis (ASD) | Q16678
                            (related) | 
| H01203 | Primary congenital glaucoma (PCG) | Q16678
                            (related) | 
| H00063 | Spinocerebellar ataxia (SCA) | Q99700
                            (related) Q9NUW8 (related) | 
| H00480 | Non-syndromic X-linked mental retardation | Q99714
                            (related) | 
| H00658 | Syndromic X-linked mental retardation | Q99714
                            (related) | 
| H00925 | 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency | Q99714
                            (related) | 
| H00403 | Disorders of nucleotide excision repair | Q9Y253
                            (related) | 
| MESH or OMIM | name | KNApSAcK metabolite | 
|---|---|---|
| D003876 | Dermatitis, Atopic | C00005138 | 
| D000647 | Amnesia | C00000982 | 
| D001932 | Brain Neoplasms | C00000982 | 
| D009202 | Cardiomyopathies | C00000982 | 
| D056486 | Drug-Induced Liver Injury | C00000982 | 
| D064420 | Drug-Related Side Effects and Adverse Reactions | C00000982 | 
| D007674 | Kidney Diseases | C00000982 | 
| D008106 | Liver Cirrhosis, Experimental | C00000982 | 
| D008107 | Liver Diseases | C00000982 | 
| D009369 | Neoplasms | C00000982 | 
| D009374 | Neoplasms, Experimental | C00000982 | 
| D010212 | Papilloma | C00007881 | 
| D012878 | Skin Neoplasms | C00007881 | 
| D008545 | Melanoma | C00000152 | 
| D003921 | Diabetes Mellitus, Experimental | C00002647 | 
| D050171 | Dyslipidemias | C00002647 | 
| D005234 | Fatty Liver | C00002647 | 
| D018149 | Glucose Intolerance | C00002647 | 
| D006937 | Hypercholesterolemia | C00002647 | 
| D006943 | Hyperglycemia | C00002647 | 
| D006949 | Hyperlipidemias | C00002647 | 
| D015228 | Hypertriglyceridemia | C00002647 | 
| D015464 | Leukemia, Myelogenous, Chronic, BCR-ABL Positive | C00002647 | 
| D008546 | Melanoma, Experimental | C00002647 | 
| D009069 | Movement Disorders | C00002647 | 
| D009203 | Myocardial Infarction | C00002647 | 
| D009361 | Neoplasm Invasiveness | C00002647 | 
| D009362 | Neoplasm Metastasis | C00002647 | 
| D012516 | Osteosarcoma | C00002647 | 
| D010182 | Pancreatic Diseases | C00002647 |