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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 |
|---|---|---|---|---|---|
| C0432272 | Van Buchem disease | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0432269 | Lenz Majewski hyperostotic dwarfism | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0432255 | Geroderma osteodysplastica | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
| C0432255 | Geroderma osteodysplastica | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C0432252 | Osteoporosis with pseudoglioma | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
| C0432242 | Desbuquois syndrome | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0432242 | Desbuquois syndrome | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0432242 | Desbuquois syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0432242 | Desbuquois syndrome | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0432242 | Desbuquois syndrome | FAM20B | 9917 | FAM20B glycosaminoglycan xylosylkinase | O75063 |
| C0432228 | Brachyolmia | PAPSS2 | 9060 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | O95340 |
| C0432215 | Progressive pseudorheumatoid dysplasia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0432215 | Progressive pseudorheumatoid dysplasia | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0432215 | Progressive pseudorheumatoid dysplasia | FADS1 | 3992 | fatty acid desaturase 1 | O60427 |
| C0432215 | Progressive pseudorheumatoid dysplasia | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0432194 | Schneckenbecken dysplasia | SLC35D1 | 23169 | solute carrier family 35 member D1 | Q9NTN3 |
| C0432194 | Schneckenbecken dysplasia | INPPL1 | 3636 | inositol polyphosphate phosphatase like 1 | O15357 |
| C0431664 | Unilateral Cryptorchidism | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0431664 | Unilateral Cryptorchidism | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0431664 | Unilateral Cryptorchidism | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0431663 | Bilateral Cryptorchidism | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
| C0431663 | Bilateral Cryptorchidism | HSD3B2 | 3284 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 | P26439 |
| C0431663 | Bilateral Cryptorchidism | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0431663 | Bilateral Cryptorchidism | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0431663 | Bilateral Cryptorchidism | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
