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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 |
|---|---|---|---|---|---|
| C1533628 | Pseudo-Zellweger syndrome | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C1533847 | Disorder of skeletal muscle | GYG1 | 2992 | glycogenin 1 | P46976 |
| C1533847 | Disorder of skeletal muscle | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C1533847 | Disorder of skeletal muscle | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C1533847 | Disorder of skeletal muscle | LPIN1 | 23175 | lipin 1 | Q14693 |
| C1533847 | Disorder of skeletal muscle | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C1533847 | Disorder of skeletal muscle | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C1533847 | Disorder of skeletal muscle | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C1533847 | Disorder of skeletal muscle | SFTPC | 6440 | surfactant protein C | P11686 |
| C1535939 | Pneumocystis jiroveci pneumonia | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C1535939 | Pneumocystis jiroveci pneumonia | ATP6AP2 | 10159 | ATPase H+ transporting accessory protein 2 | O75787 |
| C1535939 | Pneumocystis jiroveci pneumonia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C1535939 | Pneumocystis jiroveci pneumonia | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C1535939 | Pneumocystis jiroveci pneumonia | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C1535939 | Pneumocystis jiroveci pneumonia | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C1535939 | Pneumocystis jiroveci pneumonia | CEL | 1056 | carboxyl ester lipase | P19835 |
| C1535939 | Pneumocystis jiroveci pneumonia | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C1535939 | Pneumocystis jiroveci pneumonia | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C1535939 | Pneumocystis jiroveci pneumonia | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C1535939 | Pneumocystis jiroveci pneumonia | STS | 412 | steroid sulfatase | P08842 |
| C1535939 | Pneumocystis jiroveci pneumonia | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C1535939 | Pneumocystis jiroveci pneumonia | SFTPD | 6441 | surfactant protein D | P35247 |
| C1535939 | Pneumocystis jiroveci pneumonia | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C1535939 | Pneumocystis jiroveci pneumonia | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C1535939 | Pneumocystis jiroveci pneumonia | SFTPA2 | 729238 | surfactant protein A2 | Q8IWL1 |
