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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 |
|---|---|---|---|---|---|
| C0268731 | Renal glomerular disease | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0268731 | Renal glomerular disease | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0268731 | Renal glomerular disease | GPC5 | 2262 | glypican 5 | P78333 |
| C0268731 | Renal glomerular disease | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0268731 | Renal glomerular disease | PLA2R1 | 22925 | phospholipase A2 receptor 1 | Q13018 |
| C0268731 | Renal glomerular disease | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0020544 | Renal hypertension | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0020544 | Renal hypertension | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0020544 | Renal hypertension | TM7SF2 | 7108 | transmembrane 7 superfamily member 2 | O76062 |
| C0020544 | Renal hypertension | CYP2J2 | 1573 | cytochrome P450 family 2 subfamily J member 2 | P51589 |
| C4049328 | Renal medullary carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0001126 | Renal tubular acidosis | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0001126 | Renal tubular acidosis | PFKM | 5213 | phosphofructokinase, muscle | P08237 |
| C0001126 | Renal tubular acidosis | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C0001126 | Renal tubular acidosis | PFKP | 5214 | phosphofructokinase, platelet | Q01813 |
| C0001126 | Renal tubular acidosis | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0268790 | Renal vascular disorder | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0268790 | Renal vascular disorder | CAT | 847 | catalase | P04040 |
| C0268790 | Renal vascular disorder | CYP4A11 | 1579 | cytochrome P450 family 4 subfamily A member 11 | Q02928 |
| C0796135 | Renpenning syndrome 1 | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0796135 | Renpenning syndrome 1 | STS | 412 | steroid sulfatase | P08842 |
| C0854795 | Resectable Malignant Liver Neoplasm | ACOT12 | 134526 | acyl-CoA thioesterase 12 | Q8WYK0 |
| C0035204 | Respiration Disorders | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0035204 | Respiration Disorders | DGKA | 1606 | diacylglycerol kinase alpha | P23743 |
| C0035204 | Respiration Disorders | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
