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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 |
|---|---|---|---|---|---|
| C1865868 | ALZHEIMER DISEASE 5 | SPHK1 | 8877 | sphingosine kinase 1 | Q9NYA1 |
| C1866095 | Deafness, Autosomal Dominant 13 | TECTA | 7007 | tectorin alpha | O75443 |
| C1866119 | Autoimmune Lymphoproliferative Syndrome, Type IA | FASN | 2194 | fatty acid synthase | P49327 |
| C1866282 | CEROID LIPOFUSCINOSIS, NEURONAL, 6 | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C1866282 | CEROID LIPOFUSCINOSIS, NEURONAL, 6 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1866376 | Pten Hamartoma Tumor Syndrome With Granular Cell Tumor | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1866376 | Pten Hamartoma Tumor Syndrome With Granular Cell Tumor | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1866398 | Proteus-Like Syndrome (disorder) | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1866398 | Proteus-Like Syndrome (disorder) | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1866552 | PARAGANGLIOMAS 2 (disorder) | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1867299 | Retinitis Pigmentosa 10 | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C1867300 | RETINITIS PIGMENTOSA 9 | LPIN1 | 23175 | lipin 1 | Q14693 |
| C1867450 | Pseudoxanthoma Elasticum, Incomplete | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C1867450 | Pseudoxanthoma Elasticum, Incomplete | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C1867773 | CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 | PRNP | 5621 | prion protein | P04156 |
| C1867773 | CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 | GPC1 | 2817 | glypican 1 | P35052 |
| C1867773 | CEREBRAL AMYLOID ANGIOPATHY, ITM2B-RELATED, 1 | PRNP | 5621 | prion protein | F7VJQ1 |
| C1868081 | Juvenile Polyposis Coli | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1868112 | Crossed Polydactyly, Type I | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1868112 | Crossed Polydactyly, Type I | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C1868193 | PNEUMOTHORAX, PRIMARY SPONTANEOUS | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C1868594 | Perry Syndrome | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C1868596 | Atypical Parkinson Disease | SYNJ1 | 8867 | synaptojanin 1 | O43426 |
| C1868598 | PARIETAL FORAMINA | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C1868598 | PARIETAL FORAMINA | UGT8 | 7368 | UDP glycosyltransferase 8 | Q16880 |
