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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 |
|---|---|---|---|---|---|
| C0023051 | Laryngeal Diseases | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0023051 | Laryngeal Diseases | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C0023051 | Laryngeal Diseases | UGT2A1 | 10941 | UDP glucuronosyltransferase family 2 member A1 complex locus | Q9Y4X1 |
| C0023051 | Laryngeal Diseases | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0023051 | Laryngeal Diseases | SHMT1 | 6470 | serine hydroxymethyltransferase 1 | P34896 |
| C0023015 | Language Disorders | PPP1R3A | 5506 | protein phosphatase 1 regulatory subunit 3A | Q16821 |
| C0023015 | Language Disorders | STS | 412 | steroid sulfatase | P08842 |
| C0023015 | Language Disorders | GPD2 | 2820 | glycerol-3-phosphate dehydrogenase 2 | P43304 |
| C0023015 | Language Disorders | ARSD | 414 | arylsulfatase D | P51689 |
| C0023015 | Language Disorders | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0023014 | Language Development Disorders | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0023014 | Language Development Disorders | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0023003 | Langer-Giedion Syndrome | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0022972 | Lambert-Eaton Myasthenic Syndrome | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0022972 | Lambert-Eaton Myasthenic Syndrome | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0022972 | Lambert-Eaton Myasthenic Syndrome | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0022972 | Lambert-Eaton Myasthenic Syndrome | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0022972 | Lambert-Eaton Myasthenic Syndrome | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0022972 | Lambert-Eaton Myasthenic Syndrome | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
| C0022972 | Lambert-Eaton Myasthenic Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0022951 | Lactose Intolerance | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0022951 | Lactose Intolerance | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0022951 | Lactose Intolerance | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0022951 | Lactose Intolerance | LCT | 3938 | lactase | P09848 |
| C0022810 | Kyasanur Forest Disease | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
