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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 |
|---|---|---|---|---|---|
| C0004364 | Autoimmune Diseases | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0004364 | Autoimmune Diseases | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0004364 | Autoimmune Diseases | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0004364 | Autoimmune Diseases | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0004364 | Autoimmune Diseases | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0004364 | Autoimmune Diseases | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0004364 | Autoimmune Diseases | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0004364 | Autoimmune Diseases | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0004509 | Azoospermia | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| 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 |
