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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 |
|---|---|---|---|---|---|
| C0018206 | granulosa cell tumor | CDH13 | 1012 | cadherin 13 | P55290 |
| C0018206 | granulosa cell tumor | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0018206 | granulosa cell tumor | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0018206 | granulosa cell tumor | TKTL1 | 8277 | transketolase like 1 | P51854 |
| 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 |
| C1384666 | hearing impairment | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C1384666 | hearing impairment | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C1384666 | hearing impairment | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C1384666 | hearing impairment | GALC | 2581 | galactosylceramidase | P54803 |
| C1384666 | hearing impairment | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C1384666 | hearing impairment | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C1384666 | hearing impairment | GBA | 2629 | glucosylceramidase beta | P04062 |
| C1384666 | hearing impairment | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C1384666 | hearing impairment | GNS | 2799 | glucosamine (N-acetyl)-6-sulfatase | P15586 |
| C1384666 | hearing impairment | GUSB | 2990 | glucuronidase beta | P08236 |
| C1384666 | hearing impairment | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C1384666 | hearing impairment | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
