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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 |
|---|---|---|---|---|---|
| C1279296 | Chronic leukemia (category) | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C1279412 | periodic paralysis (finding) | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C1279420 | Anxiety neurosis (finding) | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C1279420 | Anxiety neurosis (finding) | ARSI | 340075 | arylsulfatase family member I | Q5FYB1 |
| C1279420 | Anxiety neurosis (finding) | LGALS3 | 3958 | galectin 3 | P17931 |
| C1279420 | Anxiety neurosis (finding) | GLO1 | 2739 | glyoxalase I | Q04760 |
| C1279420 | Anxiety neurosis (finding) | AMY1A | 276 | amylase alpha 1A | P04745 |
| C1279420 | Anxiety neurosis (finding) | AMY1B | 277 | amylase alpha 1B | P04745 |
| C1279420 | Anxiety neurosis (finding) | AMY1C | 278 | amylase alpha 1C | P04745 |
| C1279481 | X-Linked Combined Immunodeficiency Diseases | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C1279481 | X-Linked Combined Immunodeficiency Diseases | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C1279481 | X-Linked Combined Immunodeficiency Diseases | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C1279945 | Acute interstitial pneumonia | ARSA | 410 | arylsulfatase A | P15289 |
| C1279945 | Acute interstitial pneumonia | ENO1 | 2023 | enolase 1 | P06733 |
| C1279945 | Acute interstitial pneumonia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1279945 | Acute interstitial pneumonia | AMY2A | 279 | amylase alpha 2A | P04746 |
| C1279945 | Acute interstitial pneumonia | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C1279945 | Acute interstitial pneumonia | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C1280798 | Von Willebrand disease, platelet type | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C1282359 | Ocular Cicatricial Pemphigoid | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C1282916 | Secondary Raynaud's phenomenon | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C1282916 | Secondary Raynaud's phenomenon | CNTN3 | 5067 | contactin 3 | Q9P232 |
| C1282975 | von Willebrand Disease, Type 2N | OTOA | 146183 | otoancorin | Q7RTW8 |
| C1282975 | von Willebrand Disease, Type 2N | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C1282975 | von Willebrand Disease, Type 2N | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
