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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 |
|---|---|---|---|---|---|
| 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 |
| C1535939 | Pneumocystis jiroveci pneumonia | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C1535939 | Pneumocystis jiroveci pneumonia | UAP1 | 6675 | UDP-N-acetylglucosamine pyrophosphorylase 1 | Q16222 |
| 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 |
| C1533628 | Pseudo-Zellweger syndrome | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C1533568 | fertility disorders | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C1533568 | fertility disorders | EFNA5 | 1946 | ephrin A5 | P52803 |
| C1531647 | Cerebral ventriculomegaly | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C1531647 | Cerebral ventriculomegaly | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C1531647 | Cerebral ventriculomegaly | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1531647 | Cerebral ventriculomegaly | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1531647 | Cerebral ventriculomegaly | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
