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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 |
|---|---|---|---|---|---|
| C2930619 | Sex Differentiation Disorders | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C2930619 | Sex Differentiation Disorders | DHRS11 | 79154 | dehydrogenase/reductase 11 | Q6UWP2 |
| C0206724 | Sex Cord-Stromal Tumor | LGALS3 | 3958 | galectin 3 | P17931 |
| C0730278 | Severe nonproliferative diabetic retinopathy | DPEP1 | 1800 | dipeptidase 1 | P16444 |
| C0311276 | Severe malnutrition | MPI | 4351 | mannose phosphate isomerase | P34949 |
| C0311276 | Severe malnutrition | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0311276 | Severe malnutrition | SELP | 6403 | selectin P | P16109 |
| C0311276 | Severe malnutrition | CD14 | 929 | CD14 molecule | P08571 |
| C0036857 | Severe intellectual disability | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0036857 | Severe intellectual disability | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0036857 | Severe intellectual disability | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0036857 | Severe intellectual disability | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0036857 | Severe intellectual disability | FKTN | 2218 | fukutin | O75072 |
| C0036857 | Severe intellectual disability | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
| C0036857 | Severe intellectual disability | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0036857 | Severe intellectual disability | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0036857 | Severe intellectual disability | PIGC | 5279 | phosphatidylinositol glycan anchor biosynthesis class C | Q92535 |
| C0036857 | Severe intellectual disability | MGAT2 | 4247 | alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase | Q10469 |
| C0036857 | Severe intellectual disability | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0036857 | Severe intellectual disability | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0036857 | Severe intellectual disability | ST3GAL3 | 6487 | ST3 beta-galactoside alpha-2,3-sialyltransferase 3 | Q11203 |
| C0036857 | Severe intellectual disability | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0036857 | Severe intellectual disability | ST3GAL5 | 8869 | ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | Q9UNP4 |
| C0036857 | Severe intellectual disability | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0036857 | Severe intellectual disability | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
