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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 |
|---|---|---|---|---|---|
| C0268435 | Renal Tubular Acidosis, Type II | ALDOB | 229 | aldolase, fructose-bisphosphate B | P05062 |
| C0268435 | Renal Tubular Acidosis, Type II | PC | 5091 | pyruvate carboxylase | P11498 |
| C0268435 | Renal Tubular Acidosis, Type II | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0268435 | Renal Tubular Acidosis, Type II | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0238409 | Renal Pelvis Squamous Cell Carcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0035086 | Renal Osteodystrophy | KL | 9365 | klotho | Q9UEF7 |
| C1565489 | Renal Insufficiency | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C1565489 | Renal Insufficiency | A4GALT | 53947 | alpha 1,4-galactosyltransferase (P blood group) | Q9NPC4 |
| C1565489 | Renal Insufficiency | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C1565489 | Renal Insufficiency | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C1565489 | Renal Insufficiency | GLA | 2717 | galactosidase alpha | P06280 |
| C1565489 | Renal Insufficiency | ARSA | 410 | arylsulfatase A | P15289 |
| C1565489 | Renal Insufficiency | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C1565489 | Renal Insufficiency | COG1 | 9382 | component of oligomeric golgi complex 1 | Q8WTW3 |
| C1565489 | Renal Insufficiency | OGA | 10724 | O-GlcNAcase | O60502 |
| C1565489 | Renal Insufficiency | HPSE | 10855 | heparanase | Q9Y251 |
| C1565489 | Renal Insufficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1565489 | Renal Insufficiency | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1565489 | Renal Insufficiency | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C1565489 | Renal Insufficiency | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1565489 | Renal Insufficiency | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C1565489 | Renal Insufficiency | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C1565489 | Renal Insufficiency | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C1565489 | Renal Insufficiency | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C1565489 | Renal Insufficiency | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
