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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 | PLCB4 | 5332 | phospholipase C beta 4 | Q15147 |
| C0005745 | Blepharoptosis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0005745 | Blepharoptosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0005745 | Blepharoptosis | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0005745 | Blepharoptosis | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0005744 | Blepharophimosis | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C0005744 | Blepharophimosis | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C0005744 | Blepharophimosis | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C0005744 | Blepharophimosis | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0005744 | Blepharophimosis | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0005744 | Blepharophimosis | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0005744 | Blepharophimosis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0005744 | Blepharophimosis | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0005744 | Blepharophimosis | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0005744 | Blepharophimosis | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0005741 | Blepharitis | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0005741 | Blepharitis | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C0005741 | Blepharitis | PLCD1 | 5333 | phospholipase C delta 1 | P51178 |
| C0005741 | Blepharitis | MSMO1 | 6307 | methylsterol monooxygenase 1 | Q15800 |
| C0005697 | Neurogenic Urinary Bladder | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C0005697 | Neurogenic Urinary Bladder | COG5 | 10466 | component of oligomeric golgi complex 5 | Q9UP83 |
| C0005697 | Neurogenic Urinary Bladder | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
| C0005697 | Neurogenic Urinary Bladder | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C0005697 | Neurogenic Urinary Bladder | ACER3 | 55331 | alkaline ceramidase 3 | Q9NUN7 |
| C0005697 | Neurogenic Urinary Bladder | CD38 | 952 | CD38 molecule | P28907 |
