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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 |
|---|---|---|---|---|---|
| C0019569 | Hirschsprung Disease | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C0019569 | Hirschsprung Disease | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0019569 | Hirschsprung Disease | IL1RL2 | 8808 | interleukin 1 receptor like 2 | Q9HB29 |
| C0019569 | Hirschsprung Disease | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C0019569 | Hirschsprung Disease | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C0019569 | Hirschsprung Disease | GFRA2 | 2675 | GDNF family receptor alpha 2 | O00451 |
| C0019569 | Hirschsprung Disease | SIGLEC8 | 27181 | sialic acid binding Ig like lectin 8 | Q9NYZ4 |
| C0019569 | Hirschsprung Disease | CNTN6 | 27255 | contactin 6 | Q9UQ52 |
| C0019569 | Hirschsprung Disease | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0019569 | Hirschsprung Disease | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0019569 | Hirschsprung Disease | CNTN5 | 53942 | contactin 5 | O94779 |
| C0019569 | Hirschsprung Disease | GFRA4 | 64096 | GDNF family receptor alpha 4 | Q9GZZ7 |
| C0019569 | Hirschsprung Disease | ITPKC | 80271 | inositol-trisphosphate 3-kinase C | Q96DU7 |
| C0019569 | Hirschsprung Disease | CD14 | 929 | CD14 molecule | P08571 |
| C0019569 | Hirschsprung Disease | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0019569 | Hirschsprung Disease | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0019569 | Hirschsprung Disease | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0019569 | Hirschsprung Disease | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0019569 | Hirschsprung Disease | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0019569 | Hirschsprung Disease | GFRA1 | 2674 | GDNF family receptor alpha 1 | P56159 |
| C0019569 | Hirschsprung Disease | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0019569 | Hirschsprung Disease | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0019562 | Von Hippel-Lindau Syndrome | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C0019562 | Von Hippel-Lindau Syndrome | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0019562 | Von Hippel-Lindau Syndrome | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
