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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 |
|---|---|---|---|---|---|
| C0020676 | Hypothyroidism | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C0020676 | Hypothyroidism | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C0020676 | Hypothyroidism | GPC1 | 2817 | glypican 1 | P35052 |
| C0020676 | Hypothyroidism | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0020676 | Hypothyroidism | CDH13 | 1012 | cadherin 13 | P55290 |
| C0020676 | Hypothyroidism | CPT1C | 126129 | carnitine palmitoyltransferase 1C | Q8TCG5 |
| C0020676 | Hypothyroidism | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0020676 | Hypothyroidism | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0020676 | Hypothyroidism | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0020676 | Hypothyroidism | FASN | 2194 | fatty acid synthase | P49327 |
| C0020676 | Hypothyroidism | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C0020676 | Hypothyroidism | INPP5B | 3633 | inositol polyphosphate-5-phosphatase B | P32019 |
| C0020676 | Hypothyroidism | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
| C0020676 | Hypothyroidism | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0020676 | Hypothyroidism | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0020676 | Hypothyroidism | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0020676 | Hypothyroidism | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0020676 | Hypothyroidism | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0020676 | Hypothyroidism | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C0020676 | Hypothyroidism | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0020676 | Hypothyroidism | SRD5A1 | 6715 | steroid 5 alpha-reductase 1 | P18405 |
| C0020651 | Hypotension, Orthostatic | HEXB | 3074 | hexosaminidase subunit beta | P07686 |
| C0020651 | Hypotension, Orthostatic | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0020651 | Hypotension, Orthostatic | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0020651 | Hypotension, Orthostatic | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
