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 |
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DisGeNET | July 29, 2024 |
Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0001627 | Congenital adrenal hyperplasia | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
C0001627 | Congenital adrenal hyperplasia | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
C0001627 | Congenital adrenal hyperplasia | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
C0001627 | Congenital adrenal hyperplasia | GLO1 | 2739 | glyoxalase I | Q04760 |
C0001627 | Congenital adrenal hyperplasia | MDH2 | 4191 | malate dehydrogenase 2 | P40926 |
C0001627 | Congenital adrenal hyperplasia | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
C0001627 | Congenital adrenal hyperplasia | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
C0001627 | Congenital adrenal hyperplasia | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
C0001627 | Congenital adrenal hyperplasia | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
C0001627 | Congenital adrenal hyperplasia | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
C0001627 | Congenital adrenal hyperplasia | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
C0001627 | Congenital adrenal hyperplasia | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
C0001627 | Congenital adrenal hyperplasia | GML | 2765 | glycosylphosphatidylinositol anchored molecule like | Q99445 |
C0001627 | Congenital adrenal hyperplasia | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
C0001627 | Congenital adrenal hyperplasia | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
C0001627 | Congenital adrenal hyperplasia | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
C0001627 | Congenital adrenal hyperplasia | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
C0001723 | Affective Disorders, Psychotic | COMT | 1312 | catechol-O-methyltransferase | P21964 |
C0001733 | Afibrinogenemia | PC | 5091 | pyruvate carboxylase | P11498 |
C0001768 | Agammaglobulinemia | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
C0001787 | Osteoporosis, Age-Related | GPC6 | 10082 | glypican 6 | Q9Y625 |
C0001787 | Osteoporosis, Age-Related | ENO1 | 2023 | enolase 1 | P06733 |
C0001787 | Osteoporosis, Age-Related | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
C0001787 | Osteoporosis, Age-Related | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
C0001787 | Osteoporosis, Age-Related | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
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Last updated: August 19, 2024