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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 |
|---|---|---|---|---|---|
| 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 |
| C0015371 | Extrapyramidal Disorders | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0015371 | Extrapyramidal Disorders | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| 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 |
| C0015397 | Disorder of eye | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0015397 | Disorder of eye | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0015397 | Disorder of eye | CDS1 | 1040 | CDP-diacylglycerol synthase 1 | Q92903 |
| C0015397 | Disorder of eye | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C0015397 | Disorder of eye | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0015397 | Disorder of eye | ENO1 | 2023 | enolase 1 | P06733 |
| C0015397 | Disorder of eye | ENO2 | 2026 | enolase 2 | P09104 |
| C0015397 | Disorder of eye | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C0015397 | Disorder of eye | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C0015397 | Disorder of eye | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
