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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 |
|---|---|---|---|---|---|
| C1832229 | Rieger syndrome 2 (disorder) | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C1832187 | Deafness, Autosomal Dominant 12 | TECTA | 7007 | tectorin alpha | O75443 |
| C1832174 | DOYNE HONEYCOMB RETINAL DYSTROPHY | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C1829703 | Carnitine palmitoyl transferase 1A deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
| C1829703 | Carnitine palmitoyl transferase 1A deficiency | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C1802395 | Congenital muscular hypertrophy-cerebral syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1800706 | Idiopathic Pulmonary Fibrosis | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C1800706 | Idiopathic Pulmonary Fibrosis | HS6ST2 | 90161 | heparan sulfate 6-O-sulfotransferase 2 | Q96MM7 |
| C1800706 | Idiopathic Pulmonary Fibrosis | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C1800706 | Idiopathic Pulmonary Fibrosis | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C1800706 | Idiopathic Pulmonary Fibrosis | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C1800706 | Idiopathic Pulmonary Fibrosis | CTSA | 5476 | cathepsin A | P10619 |
| C1800706 | Idiopathic Pulmonary Fibrosis | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1800706 | Idiopathic Pulmonary Fibrosis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C1800706 | Idiopathic Pulmonary Fibrosis | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1800706 | Idiopathic Pulmonary Fibrosis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1800706 | Idiopathic Pulmonary Fibrosis | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C1800706 | Idiopathic Pulmonary Fibrosis | MPG | 4350 | N-methylpurine DNA glycosylase | P29372 |
| C1800706 | Idiopathic Pulmonary Fibrosis | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C1800706 | Idiopathic Pulmonary Fibrosis | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C1800706 | Idiopathic Pulmonary Fibrosis | SDC1 | 6382 | syndecan 1 | P18827 |
| C1800706 | Idiopathic Pulmonary Fibrosis | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C1800706 | Idiopathic Pulmonary Fibrosis | KL | 9365 | klotho | Q9UEF7 |
| C1800706 | Idiopathic Pulmonary Fibrosis | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C1800706 | Idiopathic Pulmonary Fibrosis | CEL | 1056 | carboxyl ester lipase | P19835 |
