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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 |
|---|---|---|---|---|---|
| C1260386 | Glucocorticoid-remediable aldosteronism | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| C1260386 | Glucocorticoid-remediable aldosteronism | CAT | 847 | catalase | P04040 |
| C1260386 | Glucocorticoid-remediable aldosteronism | CBR1 | 873 | carbonyl reductase 1 | P16152 |
| C1260386 | Glucocorticoid-remediable aldosteronism | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C1260386 | Glucocorticoid-remediable aldosteronism | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C1260386 | Glucocorticoid-remediable aldosteronism | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C1260386 | Glucocorticoid-remediable aldosteronism | GML | 2765 | glycosylphosphatidylinositol anchored molecule like | Q99445 |
| C1260326 | Dendritic Cell Sarcoma, Interdigitating | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C1260325 | Dendritic Cell Sarcoma, Follicular | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C1258104 | Diffuse Scleroderma | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C1258104 | Diffuse Scleroderma | CAT | 847 | catalase | P04040 |
| C1258104 | Diffuse Scleroderma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1258085 | Barrett Epithelium | AKR1B10 | 57016 | aldo-keto reductase family 1 member B10 | O60218 |
| C1258085 | Barrett Epithelium | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C1258085 | Barrett Epithelium | CDH13 | 1012 | cadherin 13 | P55290 |
| C1258085 | Barrett Epithelium | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1257965 | Compensatory Hyperinsulinemia | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
| C1257965 | Compensatory Hyperinsulinemia | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C1257965 | Compensatory Hyperinsulinemia | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C1257960 | Mannosidase Deficiency Diseases | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
| C1257958 | Glucose Metabolism Disorders | HK1 | 3098 | hexokinase 1 | P19367 |
| C1257958 | Glucose Metabolism Disorders | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C1257958 | Glucose Metabolism Disorders | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C1257958 | Glucose Metabolism Disorders | GCK | 2645 | glucokinase | P35557 |
| C1257958 | Glucose Metabolism Disorders | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
