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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 |
|---|---|---|---|---|---|
| C3714756 | Intellectual Disability | PIGB | 9488 | phosphatidylinositol glycan anchor biosynthesis class B | Q92521 |
| C3714756 | Intellectual Disability | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C3714756 | Intellectual Disability | ATP6V0A2 | 23545 | ATPase H+ transporting V0 subunit a2 | Q9Y487 |
| C3714756 | Intellectual Disability | AGA | 175 | aspartylglucosaminidase | P20933 |
| C3714756 | Intellectual Disability | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C3714756 | Intellectual Disability | GNS | 2799 | glucosamine (N-acetyl)-6-sulfatase | P15586 |
| C3714756 | Intellectual Disability | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
| C3714756 | Intellectual Disability | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C3714756 | Intellectual Disability | GUSB | 2990 | glucuronidase beta | P08236 |
| C3714756 | Intellectual Disability | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
| C3714756 | Intellectual Disability | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C3714756 | Intellectual Disability | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C3714756 | Intellectual Disability | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
| C3714756 | Intellectual Disability | MANBA | 4126 | mannosidase beta | O00462 |
| C3714756 | Intellectual Disability | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
| C3714756 | Intellectual Disability | ARSA | 410 | arylsulfatase A | P15289 |
| C3714756 | Intellectual Disability | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C3714756 | Intellectual Disability | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C3714756 | Intellectual Disability | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C3714756 | Intellectual Disability | SGSH | 6448 | N-sulfoglucosamine sulfohydrolase | P51688 |
| C3714756 | Intellectual Disability | CTSA | 5476 | cathepsin A | P10619 |
| C3714756 | Intellectual Disability | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C3714756 | Intellectual Disability | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C3714756 | Intellectual Disability | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C3714756 | Intellectual Disability | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
