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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 |
|---|---|---|---|---|---|
| C0015469 | Facial paralysis | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0015469 | Facial paralysis | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0015469 | Facial paralysis | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0015469 | Facial paralysis | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0015469 | Facial paralysis | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0015469 | Facial paralysis | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0015469 | Facial paralysis | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0015469 | Facial paralysis | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
| C0015469 | Facial paralysis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0015469 | Facial paralysis | GMPPB | 29925 | GDP-mannose pyrophosphorylase B | Q9Y5P6 |
| C0015469 | Facial paralysis | CHKB | 1120 | choline kinase beta | Q9Y259 |
| C0015469 | Facial paralysis | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C0015469 | Facial paralysis | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0015469 | Facial paralysis | AGRN | 375790 | agrin | O00468 |
| C0015469 | Facial paralysis | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0015469 | Facial paralysis | ACADS | 35 | acyl-CoA dehydrogenase short chain | P16219 |
| C0015469 | Facial paralysis | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0015469 | Facial paralysis | PTDSS1 | 9791 | phosphatidylserine synthase 1 | P48651 |
| C0015469 | Facial paralysis | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C0015458 | Facial Hemiatrophy | CD38 | 952 | CD38 molecule | P28907 |
| C0015414 | Eye Neoplasms | LIPG | 9388 | lipase G, endothelial type | Q9Y5X9 |
| C0015403 | Eye Infection | ART4 | 420 | ADP-ribosyltransferase 4 (Dombrock blood group) | Q93070 |
| C0015397 | Disorder of eye | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0015397 | Disorder of eye | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0015397 | Disorder of eye | CDS1 | 1040 | CDP-diacylglycerol synthase 1 | Q92903 |
