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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 |
|---|---|---|---|---|---|
| C2711227 | Steatohepatitis | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C2711227 | Steatohepatitis | ACADL | 33 | acyl-CoA dehydrogenase long chain | P28330 |
| C2711227 | Steatohepatitis | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C2711227 | Steatohepatitis | ACLY | 47 | ATP citrate lyase | P53396 |
| C2711227 | Steatohepatitis | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C2711227 | Steatohepatitis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C2711227 | Steatohepatitis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C2711227 | Steatohepatitis | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
| C2711227 | Steatohepatitis | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C2711227 | Steatohepatitis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C2711227 | Steatohepatitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| 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 |
| C0038273 | Stereotypic Movement Disorder | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0038273 | Stereotypic Movement Disorder | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0038273 | Stereotypic Movement Disorder | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
| C0038273 | Stereotypic Movement Disorder | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0038273 | Stereotypic Movement Disorder | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C0038273 | Stereotypic Movement Disorder | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0038273 | Stereotypic Movement Disorder | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
| C0038273 | Stereotypic Movement Disorder | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
