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 |
---|---|---|---|---|---|
C0020501 | Primary Hyperoxaluria | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
C0020501 | Primary Hyperoxaluria | GRHPR | 9380 | glyoxylate and hydroxypyruvate reductase | Q9UBQ7 |
C0020501 | Primary Hyperoxaluria | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
C0020501 | Primary Hyperoxaluria | HAO1 | 54363 | hydroxyacid oxidase 1 | Q9UJM8 |
C0020501 | Primary Hyperoxaluria | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
C3714618 | Primary Hyperthyroidism | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
C3714618 | Primary Hyperthyroidism | CAT | 847 | catalase | P04040 |
C0024620 | Primary Malignant Liver Neoplasm | ACOT12 | 134526 | acyl-CoA thioesterase 12 | Q8WYK0 |
C0024620 | Primary Malignant Liver Neoplasm | CYP3A5 | 1577 | cytochrome P450 family 3 subfamily A member 5 | P20815 |
C0024620 | Primary Malignant Liver Neoplasm | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
C0024620 | Primary Malignant Liver Neoplasm | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
C0024620 | Primary Malignant Liver Neoplasm | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
C0024620 | Primary Malignant Liver Neoplasm | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C0001815 | Primary Myelofibrosis | CHIT1 | 1118 | chitinase 1 | Q13231 |
C0001815 | Primary Myelofibrosis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
C0001815 | Primary Myelofibrosis | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
C0001815 | Primary Myelofibrosis | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0001815 | Primary Myelofibrosis | LDHA | 3939 | lactate dehydrogenase A | P00338 |
C0001815 | Primary Myelofibrosis | LDHB | 3945 | lactate dehydrogenase B | P07195 |
C0001815 | Primary Myelofibrosis | CALR | 811 | calreticulin | P27797 |
C0001815 | Primary Myelofibrosis | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
C0001815 | Primary Myelofibrosis | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
C0001815 | Primary Myelofibrosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
C0001815 | Primary Myelofibrosis | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
C0001815 | Primary Myelofibrosis | ALPP | 250 | alkaline phosphatase, placental | P05187 |
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Last updated: August 19, 2024