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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 |
|---|---|---|---|---|---|
| C0005859 | Bloom Syndrome | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0023434 | Chronic Lymphocytic Leukemia | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0041972 | Urethral Obstruction | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0302592 | Cervix carcinoma | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0398650 | Immune thrombocytopenic purpura | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0155626 | Acute myocardial infarction | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0001418 | Adenocarcinoma | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0006142 | Malignant neoplasm of breast | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0042580 | Vesico-Ureteral Reflux | HPSE2 | 60495 | heparanase 2 (inactive) | Q8WWQ2 |
| C0339535 | Night blindness, congenital stationary | NYX | 60506 | nyctalopin | Q9GZU5 |
| C1848172 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0038379 | Strabismus | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0028077 | Nyctalopia | NYX | 60506 | nyctalopin | Q9GZU5 |
| C3495587 | Night Blindness, Congenital Stationary, Type 1A | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0035309 | Retinal Diseases | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0007682 | CNS disorder | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0027092 | Myopia | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0023418 | leukemia | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0152200 | Achromatopsia | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0015397 | Disorder of eye | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0028738 | Nystagmus | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0018975 | Hemeralopia | NYX | 60506 | nyctalopin | Q9GZU5 |
| C1849394 | Enhanced S-Cone Syndrome | NYX | 60506 | nyctalopin | Q9GZU5 |
| C0271093 | Stargardt's disease | NYX | 60506 | nyctalopin | Q9GZU5 |
| C1850362 | NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1B | NYX | 60506 | nyctalopin | Q9GZU5 |
