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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 |
|---|---|---|---|---|---|
| C0265354 | CHARGE Syndrome | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C1839566 | CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1970011 | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C4225306 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C1833219 | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B (disorder) | SPTLC1 | 10558 | serine palmitoyltransferase long chain base subunit 1 | O15269 |
| C1838570 | CEROID LIPOFUSCINOSIS, NEURONAL, 8 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1866282 | CEROID LIPOFUSCINOSIS, NEURONAL, 6 | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C1866282 | CEROID LIPOFUSCINOSIS, NEURONAL, 6 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1850442 | CEROID LIPOFUSCINOSIS, NEURONAL, 5 | CLN5 | 1203 | CLN5 intracellular trafficking protein | O75503 |
| C1850451 | CEROID LIPOFUSCINOSIS, NEURONAL, 1 | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C3805618 | CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | PRNP | 5621 | prion protein | P04156 |
| C3805618 | CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | PRNP | 5621 | prion protein | F7VJQ1 |
| 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 |
| C1834711 | CEREBELLOPARENCHYMAL DISORDER VI | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1834711 | CEREBELLOPARENCHYMAL DISORDER VI | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1859049 | CCHS WITH HIRSCHSPRUNG DISEASE | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C1859049 | CCHS WITH HIRSCHSPRUNG DISEASE | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C1861821 | CATARACT, MARNER TYPE | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1861821 | CATARACT, MARNER TYPE | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C1861821 | CATARACT, MARNER TYPE | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1852438 | CATARACT, COPPOCK-LIKE | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C1852438 | CATARACT, COPPOCK-LIKE | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1852438 | CATARACT, COPPOCK-LIKE | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
