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 |
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DisGeNET | July 29, 2024 |
Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0018799 | Heart Diseases | EFNA5 | 1946 | ephrin A5 | P52803 |
C0018799 | Heart Diseases | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
C0018799 | Heart Diseases | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
C0018799 | Heart Diseases | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
C0018799 | Heart Diseases | ARSD | 414 | arylsulfatase D | P51689 |
C0018799 | Heart Diseases | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
C0018799 | Heart Diseases | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C0018799 | Heart Diseases | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
C0018799 | Heart Diseases | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
C0018799 | Heart Diseases | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
C0018798 | Congenital Heart Defects | B3GAT3 | 26229 | beta-1,3-glucuronyltransferase 3 | O94766 |
C0018798 | Congenital Heart Defects | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
C0018798 | Congenital Heart Defects | FKRP | 79147 | fukutin related protein | Q9H9S5 |
C0018798 | Congenital Heart Defects | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
C0018798 | Congenital Heart Defects | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
C0018798 | Congenital Heart Defects | ENO1 | 2023 | enolase 1 | P06733 |
C0018798 | Congenital Heart Defects | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
C0018798 | Congenital Heart Defects | HYAL2 | 8692 | hyaluronidase 2 | Q12891 |
C0018798 | Congenital Heart Defects | ACE | 1636 | angiotensin I converting enzyme | P12821 |
C0018798 | Congenital Heart Defects | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
C0018798 | Congenital Heart Defects | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
C0018798 | Congenital Heart Defects | NTM | 50863 | neurotrimin | Q9P121 |
C0018798 | Congenital Heart Defects | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
C0018798 | Congenital Heart Defects | SLC2A3 | 6515 | solute carrier family 2 member 3 | P11169 |
C0018798 | Congenital Heart Defects | TNFRSF10C | 8794 | TNF receptor superfamily member 10c | O14798 |
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Last updated: August 19, 2024