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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 |
|---|---|---|---|---|---|
| C0027709 | Nephrocalcinosis | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0027709 | Nephrocalcinosis | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0027709 | Nephrocalcinosis | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0027709 | Nephrocalcinosis | STS | 412 | steroid sulfatase | P08842 |
| C0027709 | Nephrocalcinosis | SLC5A1 | 6523 | solute carrier family 5 member 1 | P13866 |
| C0027709 | Nephrocalcinosis | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
| C0027709 | Nephrocalcinosis | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0027709 | Nephrocalcinosis | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0027709 | Nephrocalcinosis | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0027709 | Nephrocalcinosis | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0027709 | Nephrocalcinosis | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0027709 | Nephrocalcinosis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0162283 | Nephrogenic Diabetes Insipidus | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0162283 | Nephrogenic Diabetes Insipidus | CANX | 821 | calnexin | P27824 |
| C0162283 | Nephrogenic Diabetes Insipidus | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1563705 | Nephrogenic Diabetes Insipidus, Type I | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1563705 | Nephrogenic Diabetes Insipidus, Type I | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1563705 | Nephrogenic Diabetes Insipidus, Type I | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0392525 | Nephrolithiasis | ENO1 | 2023 | enolase 1 | P06733 |
| C0392525 | Nephrolithiasis | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0392525 | Nephrolithiasis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0392525 | Nephrolithiasis | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C0392525 | Nephrolithiasis | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0392525 | Nephrolithiasis | KL | 9365 | klotho | Q9UEF7 |
| C0392525 | Nephrolithiasis | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
