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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 |
|---|---|---|---|---|---|
| C1567435 | Polycystic Kidney - body part | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C1567435 | Polycystic Kidney - body part | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
| C1567435 | Polycystic Kidney - body part | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
| C1567435 | Polycystic Kidney - body part | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C1567435 | Polycystic Kidney - body part | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0032453 | Polychondritis, Relapsing | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1876171 | Polyasplenia | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C3890205 | Polyarticular Juvenile Idiopathic Arthritis, Rheumatoid Factor Negative | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0162323 | Polyarthritis | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C0162323 | Polyarthritis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0162323 | Polyarthritis | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0162323 | Polyarthritis | HK1 | 3098 | hexokinase 1 | P19367 |
| C0162323 | Polyarthritis | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0162323 | Polyarthritis | VCAN | 1462 | versican | P13611 |
| C0162323 | Polyarthritis | ACAN | 176 | aggrecan | P16112 |
| C0162323 | Polyarthritis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0162323 | Polyarthritis | VTCN1 | 79679 | V-set domain containing T cell activation inhibitor 1 | Q7Z7D3 |
| C0162323 | Polyarthritis | ALOX5 | 240 | arachidonate 5-lipoxygenase | P09917 |
| C0162296 | Polyarthralgia | SIGLEC9 | 27180 | sialic acid binding Ig like lectin 9 | Q9Y336 |
| C0162296 | Polyarthralgia | CD14 | 929 | CD14 molecule | P08571 |
| C0031036 | Polyarteritis Nodosa | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C0031036 | Polyarteritis Nodosa | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0032371 | Poliomyelitis | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0032371 | Poliomyelitis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0032371 | Poliomyelitis | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
