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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 |
|---|---|---|---|---|---|
| C0524662 | Opiate Addiction | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C0524662 | Opiate Addiction | RGMA | 56963 | repulsive guidance molecule BMP co-receptor a | Q96B86 |
| C0524662 | Opiate Addiction | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C2936904 | Opitz GBBB Syndrome, X-Linked | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C2936904 | Opitz GBBB Syndrome, X-Linked | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C2936904 | Opitz GBBB Syndrome, X-Linked | GPC3 | 2719 | glypican 3 | P51654 |
| C2936904 | Opitz GBBB Syndrome, X-Linked | HK2 | 3099 | hexokinase 2 | P52789 |
| C2936904 | Opitz GBBB Syndrome, X-Linked | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C2936904 | Opitz GBBB Syndrome, X-Linked | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C2936904 | Opitz GBBB Syndrome, X-Linked | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C2936904 | Opitz GBBB Syndrome, X-Linked | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0029124 | Optic Atrophy | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0029124 | Optic Atrophy | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C0029124 | Optic Atrophy | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0029124 | Optic Atrophy | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0029124 | Optic Atrophy | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0029124 | Optic Atrophy | FKTN | 2218 | fukutin | O75072 |
| C0029124 | Optic Atrophy | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C0029124 | Optic Atrophy | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0029124 | Optic Atrophy | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0029124 | Optic Atrophy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0029124 | Optic Atrophy | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0029124 | Optic Atrophy | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0029124 | Optic Atrophy | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0029124 | Optic Atrophy | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
