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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 |
|---|---|---|---|---|---|
| C0266483 | Pachygyria | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0266483 | Pachygyria | RXYLT1 | 10329 | ribitol xylosyltransferase 1 | Q9Y2B1 |
| C0266483 | Pachygyria | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0266483 | Pachygyria | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0266483 | Pachygyria | PIGP | 51227 | phosphatidylinositol glycan anchor biosynthesis class P | P57054 |
| C0266483 | Pachygyria | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0266483 | Pachygyria | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0266483 | Pachygyria | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C0266483 | Pachygyria | DLST | 1743 | dihydrolipoamide S-succinyltransferase | P36957 |
| C0266483 | Pachygyria | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0266483 | Pachygyria | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0266483 | Pachygyria | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0266508 | Rachischisis | CHKA | 1119 | choline kinase alpha | P35790 |
| C0266508 | Rachischisis | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0266526 | Norrie disease | CD38 | 952 | CD38 molecule | P28907 |
| C0266526 | Norrie disease | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0266526 | Norrie disease | CMAS | 55907 | cytidine monophosphate N-acetylneuraminic acid synthetase | Q8NFW8 |
| C0266526 | Norrie disease | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C0266539 | Congenital total cataract | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C0266539 | Congenital total cataract | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0266539 | Congenital total cataract | LSS | 4047 | lanosterol synthase | P48449 |
| C0266544 | Microcornea | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C0266544 | Microcornea | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0266544 | Microcornea | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0266544 | Microcornea | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
