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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 |
|---|---|---|---|---|---|
| C0020608 | Hypodontia | PLD2 | 5338 | phospholipase D2 | O14939 |
| C0020608 | Hypodontia | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C0020608 | Hypodontia | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C0020608 | Hypodontia | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0020608 | Hypodontia | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0020608 | Hypodontia | ACOX1 | 51 | acyl-CoA oxidase 1 | Q15067 |
| C0020604 | Hypochondriasis | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C0020598 | Hypocalcemia | ALG12 | 79087 | ALG12 alpha-1,6-mannosyltransferase | Q9BV10 |
| C0020598 | Hypocalcemia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0020598 | Hypocalcemia | SLC3A1 | 6519 | solute carrier family 3 member 1 | Q07837 |
| C0020598 | Hypocalcemia | KL | 9365 | klotho | Q9UEF7 |
| C0020598 | Hypocalcemia | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0020598 | Hypocalcemia | PIK3C2A | 5286 | phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | O00443 |
| C0020598 | Hypocalcemia | ADH1A | 124 | alcohol dehydrogenase 1A (class I), alpha polypeptide | P07327 |
| C0020598 | Hypocalcemia | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0020598 | Hypocalcemia | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0020598 | Hypocalcemia | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0020598 | Hypocalcemia | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0020597 | Hypobetalipoproteinemias | EFNA5 | 1946 | ephrin A5 | P52803 |
| C0020597 | Hypobetalipoproteinemias | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C0020597 | Hypobetalipoproteinemias | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0020594 | Hypoactive Sexual Desire Disorder | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0020555 | Hypertrichosis | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0020555 | Hypertrichosis | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0020555 | Hypertrichosis | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
