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 |
---|---|---|---|---|---|
C0751951 | Central Core Myopathy (disorder) | CHKB | 1120 | choline kinase beta | Q9Y259 |
C0751951 | Central Core Myopathy (disorder) | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
C0751951 | Central Core Myopathy (disorder) | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
C0751951 | Central Core Myopathy (disorder) | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
C0007642 | Cellulitis | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
C0007642 | Cellulitis | SLC35C1 | 55343 | solute carrier family 35 member C1 | Q96A29 |
C0007642 | Cellulitis | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
C0007642 | Cellulitis | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
C0334477 | Cellular leiomyoma | LDHA | 3939 | lactate dehydrogenase A | P00338 |
C0007570 | Celiac Disease | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
C0007570 | Celiac Disease | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
C0007570 | Celiac Disease | GBGT1 | 26301 | globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) | Q8N5D6 |
C0007570 | Celiac Disease | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
C0007570 | Celiac Disease | AGA | 175 | aspartylglucosaminidase | P20933 |
C0007570 | Celiac Disease | GLB1 | 2720 | galactosidase beta 1 | P16278 |
C0007570 | Celiac Disease | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
C0007570 | Celiac Disease | LYZ | 4069 | lysozyme | P61626 |
C0007570 | Celiac Disease | UGT1A4 | 54657 | UDP glucuronosyltransferase family 1 member A4 | P22310 |
C0007570 | Celiac Disease | ASAH2 | 56624 | N-acylsphingosine amidohydrolase 2 | Q9NR71 |
C0007570 | Celiac Disease | SDC1 | 6382 | syndecan 1 | P18827 |
C0007570 | Celiac Disease | IL18RAP | 8807 | interleukin 18 receptor accessory protein | O95256 |
C0007570 | Celiac Disease | CD38 | 952 | CD38 molecule | P28907 |
C0007570 | Celiac Disease | CLEC10A | 10462 | C-type lectin domain containing 10A | Q8IUN9 |
C0007570 | Celiac Disease | ACE | 1636 | angiotensin I converting enzyme | P12821 |
C0007570 | Celiac Disease | KLRK1 | 22914 | killer cell lectin like receptor K1 | P26718 |
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Last updated: August 19, 2024