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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 |
|---|---|---|---|---|---|
| C0020651 | Hypotension, Orthostatic | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0020639 | Hypoproteinemia | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0020639 | Hypoproteinemia | LIPC | 3990 | lipase C, hepatic type | P11150 |
| C0020639 | Hypoproteinemia | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0020635 | Hypopituitarism | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0020635 | Hypopituitarism | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
| C0020635 | Hypopituitarism | ACSM3 | 6296 | acyl-CoA synthetase medium chain family member 3 | Q53FZ2 |
| C0020635 | Hypopituitarism | GPC1 | 2817 | glypican 1 | P35052 |
| C0020635 | Hypopituitarism | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0020635 | Hypopituitarism | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0020635 | Hypopituitarism | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0020630 | Hypophosphatasia | PIGT | 51604 | phosphatidylinositol glycan anchor biosynthesis class T | Q969N2 |
| C0020630 | Hypophosphatasia | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0020630 | Hypophosphatasia | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0020630 | Hypophosphatasia | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0020630 | Hypophosphatasia | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0020626 | Hypoparathyroidism | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0020626 | Hypoparathyroidism | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0020626 | Hypoparathyroidism | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0020626 | Hypoparathyroidism | STS | 412 | steroid sulfatase | P08842 |
| C0020626 | Hypoparathyroidism | ADH1A | 124 | alcohol dehydrogenase 1A (class I), alpha polypeptide | P07327 |
| C0020626 | Hypoparathyroidism | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0020626 | Hypoparathyroidism | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0020626 | Hypoparathyroidism | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C0020621 | Hypokalemia | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
