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 |
---|---|---|---|---|---|
C1384666 | hearing impairment | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
C1384666 | hearing impairment | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
C1384583 | Congenital absence of germinal epithelium of testes | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
C1384583 | Congenital absence of germinal epithelium of testes | PGAM1 | 5223 | phosphoglycerate mutase 1 | P18669 |
C1384583 | Congenital absence of germinal epithelium of testes | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
C1384583 | Congenital absence of germinal epithelium of testes | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
C1384583 | Congenital absence of germinal epithelium of testes | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
C1384583 | Congenital absence of germinal epithelium of testes | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
C1384583 | Congenital absence of germinal epithelium of testes | PRPS2 | 5634 | phosphoribosyl pyrophosphate synthetase 2 | P11908 |
C1384583 | Congenital absence of germinal epithelium of testes | TEX101 | 83639 | testis expressed 101 | Q9BY14 |
C1384583 | Congenital absence of germinal epithelium of testes | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C1384583 | Congenital absence of germinal epithelium of testes | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
C1384583 | Congenital absence of germinal epithelium of testes | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
C1384583 | Congenital absence of germinal epithelium of testes | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
C1384583 | Congenital absence of germinal epithelium of testes | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C1384514 | Conn Syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
C1384514 | Conn Syndrome | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
C1384514 | Conn Syndrome | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
C1384514 | Conn Syndrome | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
C1384514 | Conn Syndrome | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
C1384514 | Conn Syndrome | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
C1384514 | Conn Syndrome | LGALS3 | 3958 | galectin 3 | P17931 |
C1384514 | Conn Syndrome | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
C1384514 | Conn Syndrome | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
C1384514 | Conn Syndrome | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
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Last updated: August 19, 2024