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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 |
|---|---|---|---|---|---|
| C0282528 | Peroxisomal Disorders | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0282528 | Peroxisomal Disorders | HSD17B7 | 51478 | hydroxysteroid 17-beta dehydrogenase 7 | P56937 |
| C0282528 | Peroxisomal Disorders | DHRS11 | 79154 | dehydrogenase/reductase 11 | Q6UWP2 |
| C1832232 | Peroxisome Biogenesis Disorder, Complementation Group C | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C1863999 | Peroxisome Biogenesis Disorder, Complementation Group D | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C1863999 | Peroxisome Biogenesis Disorder, Complementation Group D | CAT | 847 | catalase | P04040 |
| C1864172 | Peroxisome Biogenesis Disorder, Complementation Group G | AGA | 175 | aspartylglucosaminidase | P20933 |
| C1868594 | Perry Syndrome | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0282550 | Persian Gulf Syndrome | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0031190 | Persistent Fetal Circulation Syndrome | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0266568 | Persistent Hyperplastic Primary Vitreous | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0031212 | Personality Disorders | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0031212 | Personality Disorders | IMPA1 | 3612 | inositol monophosphatase 1 | P29218 |
| C0043167 | Pertussis | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0043167 | Pertussis | UMOD | 7369 | uromodulin | P07911 |
| C0043167 | Pertussis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0031256 | Petechiae | LYZ | 4069 | lysozyme | P61626 |
| C0270823 | Petit mal status | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0270823 | Petit mal status | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0270823 | Petit mal status | CAT | 847 | catalase | P04040 |
| C0270823 | Petit mal status | CD33 | 945 | CD33 molecule | P20138 |
| C0270823 | Petit mal status | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0031269 | Peutz-Jeghers Syndrome | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0031269 | Peutz-Jeghers Syndrome | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C0031269 | Peutz-Jeghers Syndrome | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
