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 |
---|---|---|---|---|---|
C0020490 | Hyperopia | ATP6AP1 | 537 | ATPase H+ transporting accessory protein 1 | Q15904 |
C0020481 | Hyperlipoproteinemia Type V | LPL | 4023 | lipoprotein lipase | P06858 |
C0020480 | Hyperlipoproteinemia Type IV | LPL | 4023 | lipoprotein lipase | P06858 |
C0020479 | Hyperlipoproteinemia Type III | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
C0020479 | Hyperlipoproteinemia Type III | LPL | 4023 | lipoprotein lipase | P06858 |
C0020479 | Hyperlipoproteinemia Type III | SULF2 | 55959 | sulfatase 2 | Q8IWU5 |
C0020479 | Hyperlipoproteinemia Type III | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
C0020476 | Hyperlipoproteinemias | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
C0020476 | Hyperlipoproteinemias | SDC1 | 6382 | syndecan 1 | P18827 |
C0020476 | Hyperlipoproteinemias | KL | 9365 | klotho | Q9UEF7 |
C0020476 | Hyperlipoproteinemias | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
C0020476 | Hyperlipoproteinemias | GPIHBP1 | 338328 | glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 | Q8IV16 |
C0020476 | Hyperlipoproteinemias | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
C0020476 | Hyperlipoproteinemias | LIPC | 3990 | lipase C, hepatic type | P11150 |
C0020476 | Hyperlipoproteinemias | LPL | 4023 | lipoprotein lipase | P06858 |
C0020476 | Hyperlipoproteinemias | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
C0020476 | Hyperlipoproteinemias | RGN | 9104 | regucalcin | Q15493 |
C0020476 | Hyperlipoproteinemias | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
C0020474 | Hyperlipidemia, Familial Combined | CHIT1 | 1118 | chitinase 1 | Q13231 |
C0020474 | Hyperlipidemia, Familial Combined | LYPLA2 | 11313 | lysophospholipase 2 | O95372 |
C0020474 | Hyperlipidemia, Familial Combined | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
C0020474 | Hyperlipidemia, Familial Combined | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
C0020474 | Hyperlipidemia, Familial Combined | LIPC | 3990 | lipase C, hepatic type | P11150 |
C0020474 | Hyperlipidemia, Familial Combined | LPL | 4023 | lipoprotein lipase | P06858 |
C0020474 | Hyperlipidemia, Familial Combined | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
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Last updated: August 19, 2024