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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 |
|---|---|---|---|---|---|
| C0268262 | Metachromatic Leukodystrophy due to Saposin B Deficiency | PSAP | 5660 | prosaposin | P07602 |
| C0751279 | Metachromatic Leukodystrophy, Adult-Type (disorder) | ARSA | 410 | arylsulfatase A | P15289 |
| C0751279 | Metachromatic Leukodystrophy, Adult-Type (disorder) | PSAP | 5660 | prosaposin | P07602 |
| C0751279 | Metachromatic Leukodystrophy, Adult-Type (disorder) | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0751278 | Metachromatic Leukodystrophy, Infant | ARSA | 410 | arylsulfatase A | P15289 |
| C0751278 | Metachromatic Leukodystrophy, Infant | PSAP | 5660 | prosaposin | P07602 |
| C0751276 | Metachromatic leukodystrophy, juvenile type | ARSA | 410 | arylsulfatase A | P15289 |
| C0751276 | Metachromatic leukodystrophy, juvenile type | PSAP | 5660 | prosaposin | P07602 |
| C1266045 | Metanephric adenoma | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0265289 | Metaphyseal chondrodysplasia Schmid type | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C1334708 | Metaplastic carcinoma of breast | DCN | 1634 | decorin | P07585 |
| C1334708 | Metaplastic carcinoma of breast | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1334708 | Metaplastic carcinoma of breast | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1334708 | Metaplastic carcinoma of breast | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1334708 | Metaplastic carcinoma of breast | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0025637 | Methemoglobinemia | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
| C0025637 | Methemoglobinemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0025637 | Methemoglobinemia | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0025637 | Methemoglobinemia | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0025637 | Methemoglobinemia | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0025637 | Methemoglobinemia | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C1855114 | Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
| C1855114 | Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C1855116 | Methylmalonic Aciduria, mut(-) Type | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C1855115 | Methylmalonic Aciduria, mut(0) Type | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
