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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 |
|---|---|---|---|---|---|
| C0729353 | Subfertility | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0729353 | Subfertility | KL | 9365 | klotho | Q9UEF7 |
| C0729353 | Subfertility | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0729353 | Subfertility | CD14 | 929 | CD14 molecule | P08571 |
| C0729353 | Subfertility | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0729353 | Subfertility | HSD17B1 | 3292 | hydroxysteroid 17-beta dehydrogenase 1 | P14061 |
| C0729353 | Subfertility | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C0729842 | Serpiginous choroiditis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0730278 | Severe nonproliferative diabetic retinopathy | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0730285 | Diabetic macular edema | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
| C0730285 | Diabetic macular edema | GAL3ST1 | 9514 | galactose-3-O-sulfotransferase 1 | Q99999 |
| C0730285 | Diabetic macular edema | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0730285 | Diabetic macular edema | HK1 | 3098 | hexokinase 1 | P19367 |
| C0730285 | Diabetic macular edema | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0730285 | Diabetic macular edema | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0730285 | Diabetic macular edema | LGALS1 | 3956 | galectin 1 | P09382 |
| C0730285 | Diabetic macular edema | CD14 | 929 | CD14 molecule | P08571 |
| C0730285 | Diabetic macular edema | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0733682 | Hypophosphatemic Rickets, X-Linked Dominant | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0733682 | Hypophosphatemic Rickets, X-Linked Dominant | KL | 9365 | klotho | Q9UEF7 |
| C0733682 | Hypophosphatemic Rickets, X-Linked Dominant | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0733682 | Hypophosphatemic Rickets, X-Linked Dominant | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0740277 | Bile duct carcinoma | MGAT5 | 4249 | alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase | Q09328 |
| C0740277 | Bile duct carcinoma | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0740277 | Bile duct carcinoma | ALDOA | 226 | aldolase, fructose-bisphosphate A | P04075 |
