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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 |
|---|---|---|---|---|---|
| C1384514 | Conn Syndrome | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C1384514 | Conn Syndrome | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C1384514 | Conn Syndrome | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| 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 |
| C1384666 | hearing impairment | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C1384666 | hearing impairment | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1384666 | hearing impairment | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1384666 | hearing impairment | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C1384666 | hearing impairment | ALG11 | 440138 | ALG11 alpha-1,2-mannosyltransferase | Q2TAA5 |
| C1384666 | hearing impairment | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C1384666 | hearing impairment | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C1384666 | hearing impairment | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C1384666 | hearing impairment | HGSNAT | 138050 | heparan-alpha-glucosaminide N-acetyltransferase | Q68CP4 |
