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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 ▼ |
|---|---|---|---|---|---|
| C0752166 | Bardet-Biedl Syndrome | PIGX | 54965 | phosphatidylinositol glycan anchor biosynthesis class X | Q8TBF5 |
| C0013595 | Eczema | PIGX | 54965 | phosphatidylinositol glycan anchor biosynthesis class X | Q8TBF5 |
| C0006142 | Malignant neoplasm of breast | PIGX | 54965 | phosphatidylinositol glycan anchor biosynthesis class X | Q8TBF5 |
| C0152427 | Polydactyly | PIGX | 54965 | phosphatidylinositol glycan anchor biosynthesis class X | Q8TBF5 |
| C0678222 | Breast Carcinoma | PIGX | 54965 | phosphatidylinositol glycan anchor biosynthesis class X | Q8TBF5 |
| C0006826 | Malignant Neoplasms | PIGX | 54965 | phosphatidylinositol glycan anchor biosynthesis class X | Q8TBF5 |
| C0009404 | Colorectal Neoplasms | NANP | 140838 | N-acetylneuraminic acid phosphatase | Q8TBE9 |
| C0027651 | Neoplasms | NANP | 140838 | N-acetylneuraminic acid phosphatase | Q8TBE9 |
| C0024530 | Malaria | NANP | 140838 | N-acetylneuraminic acid phosphatase | Q8TBE9 |
| C0235946 | Cerebral atrophy | NANP | 140838 | N-acetylneuraminic acid phosphatase | Q8TBE9 |
| C0546837 | Malignant neoplasm of esophagus | NANP | 140838 | N-acetylneuraminic acid phosphatase | Q8TBE9 |
| C0007134 | Renal Cell Carcinoma | SLC35G2 | 80723 | solute carrier family 35 member G2 | Q8TBE7 |
| C0023473 | Myeloid Leukemia, Chronic | HMGCLL1 | 54511 | 3-hydroxymethyl-3-methylglutaryl-CoA lyase like 1 | Q8TB92 |
| C1332979 | Childhood Lymphoma | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C0024299 | Lymphoma | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C0023434 | Chronic Lymphocytic Leukemia | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C0027651 | Neoplasms | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C0349631 | Richter's syndrome | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C0024301 | Lymphoma, Follicular | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C0024305 | Lymphoma, Non-Hodgkin | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C0015306 | Hereditary Multiple Exostoses | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C0006826 | Malignant Neoplasms | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C1134719 | Invasive Ductal Breast Carcinoma | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C0006142 | Malignant neoplasm of breast | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C1302547 | Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
