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 |
---|---|---|---|---|---|
C0158683 | Polycystic liver disease | ALG8 | 79053 | ALG8 alpha-1,3-glucosyltransferase | Q9BVK2 |
C0158683 | Polycystic liver disease | ALG9 | 79796 | ALG9 alpha-1,2-mannosyltransferase | Q9H6U8 |
C0158683 | Polycystic liver disease | GANAB | 23193 | glucosidase II alpha subunit | Q14697 |
C0158683 | Polycystic liver disease | PRKCSH | 5589 | protein kinase C substrate 80K-H | P14314 |
C0158683 | Polycystic liver disease | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
C0158683 | Polycystic liver disease | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
C0032461 | Polycythemia | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
C0032461 | Polycythemia | CYB5R3 | 1727 | cytochrome b5 reductase 3 | P00387 |
C0032461 | Polycythemia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
C0032461 | Polycythemia | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
C0032461 | Polycythemia | BPGM | 669 | bisphosphoglycerate mutase | P07738 |
C0032461 | Polycythemia | FH | 2271 | fumarate hydratase | P07954 |
C0032461 | Polycythemia | ACO1 | 48 | aconitase 1 | P21399 |
C0032461 | Polycythemia | CD177 | 57126 | CD177 molecule | Q8N6Q3 |
C0032461 | Polycythemia | PKLR | 5313 | pyruvate kinase L/R | P30613 |
C0032463 | Polycythemia Vera | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
C0032463 | Polycythemia Vera | CHIT1 | 1118 | chitinase 1 | Q13231 |
C0032463 | Polycythemia Vera | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
C0032463 | Polycythemia Vera | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0032463 | Polycythemia Vera | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
C0032463 | Polycythemia Vera | CALR | 811 | calreticulin | P27797 |
C0032463 | Polycythemia Vera | CEL | 1056 | carboxyl ester lipase | P19835 |
C0032463 | Polycythemia Vera | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
C0032463 | Polycythemia Vera | ACE | 1636 | angiotensin I converting enzyme | P12821 |
C0032463 | Polycythemia Vera | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
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Last updated: August 19, 2024