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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 |
|---|---|---|---|---|---|
| C1834674 | BETHLEM MYOPATHY 1 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1834674 | BETHLEM MYOPATHY 1 | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C1834674 | BETHLEM MYOPATHY 1 | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C1834711 | CEREBELLOPARENCHYMAL DISORDER VI | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1834711 | CEREBELLOPARENCHYMAL DISORDER VI | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1834712 | Cerebellar Granule Cell Hypertrophy and Megalencephaly | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1834712 | Cerebellar Granule Cell Hypertrophy and Megalencephaly | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1835614 | Hereditary Hyperexplexia | PRNP | 5621 | prion protein | P04156 |
| C1835614 | Hereditary Hyperexplexia | PRNP | 5621 | prion protein | F7VJQ1 |
| C1835849 | Congenital Disorder Of Glycosylation, Type Im | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C1836033 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | PI4KA | 5297 | phosphatidylinositol 4-kinase alpha | P42356 |
| C1836230 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C1836230 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | CLEC18B | 497190 | C-type lectin domain family 18 member B | Q6UXF7 |
| C1836230 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | NTM | 50863 | neurotrimin | Q9P121 |
| C1836230 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C1836230 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C1836230 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
| C1836230 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C1836230 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C1836230 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | SLC35F4 | 341880 | solute carrier family 35 member F4 | A4IF30 |
| C1836230 | HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C1836373 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K | FKTN | 2218 | fukutin | O75072 |
