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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 |
|---|---|---|---|---|---|
| C1854465 | TUBEROUS SCLEROSIS 1 (disorder) | TKT | 7086 | transketolase | P29401 |
| C1854466 | Temtamy preaxial brachydactyly syndrome | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C1854466 | Temtamy preaxial brachydactyly syndrome | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C1854520 | SEBASTIAN SYNDROME | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C1854520 | SEBASTIAN SYNDROME | PRNP | 5621 | prion protein | P04156 |
| C1854520 | SEBASTIAN SYNDROME | PRNP | 5621 | prion protein | F7VJQ1 |
| C1854678 | MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1854896 | Mucolipidosis III Gamma | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C1854896 | Mucolipidosis III Gamma | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C1855008 | Mitochondrial Complex II Deficiency | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C1855008 | Mitochondrial Complex II Deficiency | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C1855008 | Mitochondrial Complex II Deficiency | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C1855008 | Mitochondrial Complex II Deficiency | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C1855052 | MICROPHTHALMIA, ISOLATED 1 | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
| C1855081 | MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C1855081 | MICROCEPHALY, PRIMARY AUTOSOMAL RECESSIVE, 1 | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C1855114 | Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | MAN2B1 | 4125 | mannosidase alpha class 2B member 1 | O00754 |
| C1855114 | Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C1855115 | Methylmalonic Aciduria, mut(0) Type | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C1855116 | Methylmalonic Aciduria, mut(-) Type | MMUT | 4594 | methylmalonyl-CoA mutase | P22033 |
| C1855126 | 3-Methylglutaconic Aciduria Type IV | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C1855179 | CATARACT, ANTERIOR POLAR | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C1855179 | CATARACT, ANTERIOR POLAR | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C1855179 | CATARACT, ANTERIOR POLAR | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
| C1855179 | CATARACT, ANTERIOR POLAR | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
