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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name ▲ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0342276 | Maturity onset diabetes mellitus in young | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
C1334647 | Maxillary Sinus Squamous Cell Carcinoma | LDHB | 3945 | lactate dehydrogenase B | P07195 |
C1334647 | Maxillary Sinus Squamous Cell Carcinoma | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
C1334647 | Maxillary Sinus Squamous Cell Carcinoma | MICA | 100507436 | MHC class I polypeptide-related sequence A | Q29983 |
C0024959 | Maxillary Sinusitis | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
C0340978 | May-Hegglin anomaly | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
C0340978 | May-Hegglin anomaly | PRNP | 5621 | prion protein | P04156 |
C0340978 | May-Hegglin anomaly | PRNP | 5621 | prion protein | F7VJQ1 |
C0751782 | May-White Syndrome | NEU1 | 4758 | neuraminidase 1 | Q99519 |
C0751782 | May-White Syndrome | EPM2A | 7957 | EPM2A glucan phosphatase, laforin | O95278 |
C0751782 | May-White Syndrome | PRNP | 5621 | prion protein | P04156 |
C0751782 | May-White Syndrome | CERS1 | 10715 | ceramide synthase 1 | P27544 |
C0751782 | May-White Syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
C0242292 | McCune-Albright Syndrome | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
C0242292 | McCune-Albright Syndrome | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
C0242292 | McCune-Albright Syndrome | AMY1B | 277 | amylase alpha 1B | P04745 |
C0242292 | McCune-Albright Syndrome | AMY1A | 276 | amylase alpha 1A | P04745 |
C0242292 | McCune-Albright Syndrome | AMY1C | 278 | amylase alpha 1C | P04745 |
C0242292 | McCune-Albright Syndrome | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
C0025007 | Measles | GLB1 | 2720 | galactosidase beta 1 | P16278 |
C0025007 | Measles | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
C0025007 | Measles | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
C0025007 | Measles | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
C0025007 | Measles | CANX | 821 | calnexin | P27824 |
C0025007 | Measles | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
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Last updated: August 19, 2024