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 |
---|---|---|---|---|---|
C0025322 | Premature Menopause | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
C0025322 | Premature Menopause | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
C0025322 | Premature Menopause | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C0025322 | Premature Menopause | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C4552079 | Premature Ovarian Failure 1 | XPNPEP2 | 7512 | X-prolyl aminopeptidase 2 | O43895 |
C4552079 | Premature Ovarian Failure 1 | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
C0231341 | Premature aging syndrome | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
C0231341 | Premature aging syndrome | GUSB | 2990 | glucuronidase beta | P08236 |
C0231341 | Premature aging syndrome | SIRT2 | 22933 | sirtuin 2 | Q8IXJ6 |
C0231341 | Premature aging syndrome | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
C0231341 | Premature aging syndrome | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
C0231341 | Premature aging syndrome | ENOSF1 | 55556 | enolase superfamily member 1 | Q7L5Y1 |
C0231341 | Premature aging syndrome | KL | 9365 | klotho | Q9UEF7 |
C0231341 | Premature aging syndrome | CAT | 847 | catalase | P04040 |
C0231341 | Premature aging syndrome | GLO1 | 2739 | glyoxalase I | Q04760 |
C0231341 | Premature aging syndrome | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
C0520676 | Premenstrual Dysphoric Disorder | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
C0376356 | Premenstrual Tension | MCAT | 27349 | malonyl-CoA-acyl carrier protein transacylase | Q8IVS2 |
C0033046 | Premenstrual syndrome | IL1RAP | 3556 | interleukin 1 receptor accessory protein | Q9NPH3 |
C0033046 | Premenstrual syndrome | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
C0011265 | Presenile dementia | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
C0011265 | Presenile dementia | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
C0011265 | Presenile dementia | GBA | 2629 | glucosylceramidase beta | P04062 |
C0011265 | Presenile dementia | ARSA | 410 | arylsulfatase A | P15289 |
C0011265 | Presenile dementia | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
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Last updated: August 19, 2024