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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 |
|---|---|---|---|---|---|
| C0005779 | Blood Coagulation Disorders | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0005779 | Blood Coagulation Disorders | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0005779 | Blood Coagulation Disorders | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0005779 | Blood Coagulation Disorders | AMACR | 23600 | alpha-methylacyl-CoA racemase | Q9UHK6 |
| C0005779 | Blood Coagulation Disorders | NAAA | 27163 | N-acylethanolamine acid amidase | Q02083 |
| C0005779 | Blood Coagulation Disorders | LMAN1 | 3998 | lectin, mannose binding 1 | P49257 |
| C0005779 | Blood Coagulation Disorders | ENPP2 | 5168 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | Q13822 |
| C0005779 | Blood Coagulation Disorders | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
| C0005779 | Blood Coagulation Disorders | GOLPH3 | 64083 | golgi phosphoprotein 3 | Q9H4A6 |
| C0005750 | Blind Loop Syndrome | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0005750 | Blind Loop Syndrome | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0005750 | Blind Loop Syndrome | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C0005747 | Blepharospasm | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C0005747 | Blepharospasm | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0005745 | Blepharoptosis | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C0005745 | Blepharoptosis | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0005745 | Blepharoptosis | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0005745 | Blepharoptosis | PIGQ | 9091 | phosphatidylinositol glycan anchor biosynthesis class Q | Q9BRB3 |
| C0005745 | Blepharoptosis | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0005745 | Blepharoptosis | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C0005745 | Blepharoptosis | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0005745 | Blepharoptosis | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0005745 | Blepharoptosis | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0005745 | Blepharoptosis | TYMP | 1890 | thymidine phosphorylase | P19971 |
| C0005745 | Blepharoptosis | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
