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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID | Disease Name ▼ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0038273 | Stereotypic Movement Disorder | TKT | 7086 | transketolase | P29401 |
| C0038238 | Steatorrhea | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0038238 | Steatorrhea | PNLIP | 5406 | pancreatic lipase | P16233 |
| C0038238 | Steatorrhea | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C0038238 | Steatorrhea | ACOX2 | 8309 | acyl-CoA oxidase 2 | Q99424 |
| C0038238 | Steatorrhea | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0038238 | Steatorrhea | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C2711227 | Steatohepatitis | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C2711227 | Steatohepatitis | HAS3 | 3038 | hyaluronan synthase 3 | O00219 |
| C2711227 | Steatohepatitis | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C2711227 | Steatohepatitis | ST6GAL1 | 6480 | ST6 beta-galactoside alpha-2,6-sialyltransferase 1 | P15907 |
| C2711227 | Steatohepatitis | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C2711227 | Steatohepatitis | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C2711227 | Steatohepatitis | OGT | 8473 | O-linked N-acetylglucosamine (GlcNAc) transferase | O15294 |
| C2711227 | Steatohepatitis | DDOST | 1650 | dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit | P39656 |
| C2711227 | Steatohepatitis | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C2711227 | Steatohepatitis | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C2711227 | Steatohepatitis | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C2711227 | Steatohepatitis | CTSA | 5476 | cathepsin A | P10619 |
| C2711227 | Steatohepatitis | HPSE | 10855 | heparanase | Q9Y251 |
| C2711227 | Steatohepatitis | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C2711227 | Steatohepatitis | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C2711227 | Steatohepatitis | MOGAT1 | 116255 | monoacylglycerol O-acyltransferase 1 | Q96PD6 |
| C2711227 | Steatohepatitis | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C2711227 | Steatohepatitis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
