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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 |
|---|---|---|---|---|---|
| C0005745 | Blepharoptosis | ALDOA | 226 | aldolase, fructose-bisphosphate A | P04075 |
| C0005745 | Blepharoptosis | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0005745 | Blepharoptosis | PDHA1 | 5160 | pyruvate dehydrogenase E1 subunit alpha 1 | P08559 |
| C0005745 | Blepharoptosis | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0005745 | Blepharoptosis | ADPRS | 54936 | ADP-ribosylserine hydrolase | Q9NX46 |
| C0005745 | Blepharoptosis | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0005745 | Blepharoptosis | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0005745 | Blepharoptosis | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0005745 | Blepharoptosis | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C0005745 | Blepharoptosis | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0005745 | Blepharoptosis | AGRN | 375790 | agrin | O00468 |
| C0005745 | Blepharoptosis | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0005745 | Blepharoptosis | SC5D | 6309 | sterol-C5-desaturase | O75845 |
| C0005745 | Blepharoptosis | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C0005745 | Blepharoptosis | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0005745 | Blepharoptosis | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C0005745 | Blepharoptosis | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0005745 | Blepharoptosis | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0005745 | Blepharoptosis | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0005745 | Blepharoptosis | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0005745 | Blepharoptosis | GCK | 2645 | glucokinase | P35557 |
| C0005745 | Blepharoptosis | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0005745 | Blepharoptosis | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0005745 | Blepharoptosis | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0005745 | Blepharoptosis | MTM1 | 4534 | myotubularin 1 | Q13496 |
