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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 |
|---|---|---|---|---|---|
| C0242225 | Color blindness | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C0009398 | Color vision defect | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0009398 | Color vision defect | ELOVL4 | 6785 | ELOVL fatty acid elongase 4 | Q9GZR5 |
| C0009398 | Color vision defect | CACNA2D4 | 93589 | calcium voltage-gated channel auxiliary subunit alpha2delta 4 | Q7Z3S7 |
| C0009398 | Color vision defect | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0009398 | Color vision defect | CA4 | 762 | carbonic anhydrase 4 | P22748 |
| C1837991 | Colorectal Adenomatous Polyposis, Autosomal Recessive | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C0009402 | Colorectal Carcinoma | ST3GAL6 | 10402 | ST3 beta-galactoside alpha-2,3-sialyltransferase 6 | Q9Y274 |
| C0009402 | Colorectal Carcinoma | GALNT6 | 11226 | polypeptide N-acetylgalactosaminyltransferase 6 | Q8NCL4 |
| C0009402 | Colorectal Carcinoma | ST6GALNAC2 | 10610 | ST6 N-acetylgalactosaminide alpha-2,6-sialyltransferase 2 | Q9UJ37 |
| C0009402 | Colorectal Carcinoma | GALNT15 | 117248 | polypeptide N-acetylgalactosaminyltransferase 15 | Q8N3T1 |
| C0009402 | Colorectal Carcinoma | PIGK | 10026 | phosphatidylinositol glycan anchor biosynthesis class K | Q92643 |
| C0009402 | Colorectal Carcinoma | FUT9 | 10690 | fucosyltransferase 9 | Q9Y231 |
| C0009402 | Colorectal Carcinoma | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C0009402 | Colorectal Carcinoma | B3GNT6 | 192134 | UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 | Q6ZMB0 |
| C0009402 | Colorectal Carcinoma | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C0009402 | Colorectal Carcinoma | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0009402 | Colorectal Carcinoma | POFUT1 | 23509 | protein O-fucosyltransferase 1 | Q9H488 |
| C0009402 | Colorectal Carcinoma | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C0009402 | Colorectal Carcinoma | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0009402 | Colorectal Carcinoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0009402 | Colorectal Carcinoma | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0009402 | Colorectal Carcinoma | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0009402 | Colorectal Carcinoma | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C0009402 | Colorectal Carcinoma | FUT8 | 2530 | fucosyltransferase 8 | Q9BYC5 |
