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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 |
|---|---|---|---|---|---|
| C0004509 | Azoospermia | PARP2 | 10038 | poly(ADP-ribose) polymerase 2 | Q9UGN5 |
| C0004509 | Azoospermia | PGK2 | 5232 | phosphoglycerate kinase 2 | P07205 |
| C0004509 | Azoospermia | HJV | 148738 | hemojuvelin BMP co-receptor | Q6ZVN8 |
| C0004509 | Azoospermia | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
| C0004509 | Azoospermia | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0004509 | Azoospermia | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0004509 | Azoospermia | STS | 412 | steroid sulfatase | P08842 |
| C0004509 | Azoospermia | TEX101 | 83639 | testis expressed 101 | Q9BY14 |
| C0004509 | Azoospermia | CAT | 847 | catalase | P04040 |
| C0004509 | Azoospermia | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0004509 | Azoospermia | PLCH2 | 9651 | phospholipase C eta 2 | O75038 |
| C0004509 | Azoospermia | ART3 | 419 | ADP-ribosyltransferase 3 | Q13508 |
| C0004509 | Azoospermia | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
| C0004509 | Azoospermia | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C0004509 | Azoospermia | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0004509 | Azoospermia | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0004509 | Azoospermia | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0004509 | Azoospermia | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0004509 | Azoospermia | CACNA2D1 | 781 | calcium voltage-gated channel auxiliary subunit alpha2delta 1 | P54289 |
| C0270921 | Axonal neuropathy | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0270921 | Axonal neuropathy | PIGB | 9488 | phosphatidylinositol glycan anchor biosynthesis class B | Q92521 |
| C0270921 | Axonal neuropathy | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C1275685 | Avellino corneal dystrophy | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1275685 | Avellino corneal dystrophy | SDC1 | 6382 | syndecan 1 | P18827 |
| C1275685 | Avellino corneal dystrophy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
