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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 |
|---|---|---|---|---|---|
| C0015397 | Disorder of eye | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C0015397 | Disorder of eye | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0015397 | Disorder of eye | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C0015393 | Eye Abnormalities | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0015393 | Eye Abnormalities | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0015393 | Eye Abnormalities | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0015393 | Eye Abnormalities | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0015393 | Eye Abnormalities | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0015393 | Eye Abnormalities | NDST1 | 3340 | N-deacetylase and N-sulfotransferase 1 | P52848 |
| C0015393 | Eye Abnormalities | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0015393 | Eye Abnormalities | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0015371 | Extrapyramidal Disorders | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0015371 | Extrapyramidal Disorders | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0015310 | Exotropia | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0015310 | Exotropia | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0015310 | Exotropia | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0015310 | Exotropia | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0015310 | Exotropia | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0015310 | Exotropia | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0015310 | Exotropia | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C0015310 | Exotropia | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0015306 | Hereditary Multiple Exostoses | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0015306 | Hereditary Multiple Exostoses | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0015306 | Hereditary Multiple Exostoses | EXTL2 | 2135 | exostosin like glycosyltransferase 2 | Q9UBQ6 |
| C0015306 | Hereditary Multiple Exostoses | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
