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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 |
|---|---|---|---|---|---|
| C1136249 | Mental Retardation, X-Linked | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C1136249 | Mental Retardation, X-Linked | STS | 412 | steroid sulfatase | P08842 |
| C1136249 | Mental Retardation, X-Linked | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C1136249 | Mental Retardation, X-Linked | ARSD | 414 | arylsulfatase D | P51689 |
| C1136249 | Mental Retardation, X-Linked | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C2931498 | Mental Retardation, X-Linked 1 | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C2931498 | Mental Retardation, X-Linked 1 | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C2931498 | Mental Retardation, X-Linked 1 | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C2931498 | Mental Retardation, X-Linked 1 | STS | 412 | steroid sulfatase | P08842 |
| C0796225 | Mental Retardation, X-Linked 19 | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C1845526 | Mental Retardation, X-Linked 46 | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C1845672 | Mental Retardation, X-Linked 63 | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C1845543 | Mental Retardation, X-Linked, with Epilepsy | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C0004936 | Mental disorders | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0004936 | Mental disorders | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0004936 | Mental disorders | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0004936 | Mental disorders | MGAT1 | 4245 | alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | P26572 |
| C0004936 | Mental disorders | ST8SIA2 | 8128 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | Q92186 |
| C0004936 | Mental disorders | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0004936 | Mental disorders | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0004936 | Mental disorders | ARSA | 410 | arylsulfatase A | P15289 |
| C0004936 | Mental disorders | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0004936 | Mental disorders | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0004936 | Mental disorders | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0004936 | Mental disorders | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
