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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 |
|---|---|---|---|---|---|
| C1970109 | AROMATASE EXCESS SYNDROME | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C1970109 | AROMATASE EXCESS SYNDROME | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C4551985 | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C1859726 | ARTERIAL TORTUOSITY SYNDROME | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C1859726 | ARTERIAL TORTUOSITY SYNDROME | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C1834523 | ARTHROGRYPOSIS, DISTAL, TYPE 2B | STS | 412 | steroid sulfatase | P08842 |
| C1859598 | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1859598 | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1859598 | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C1859598 | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA | STS | 412 | steroid sulfatase | P08842 |
| C1859598 | ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0796028 | ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | CAT | 847 | catalase | P04040 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | ARSD | 414 | arylsulfatase D | P51689 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1859592 | ATRICHIA WITH PAPULAR LESIONS | AGL | 178 | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase | P35573 |
| C1859592 | ATRICHIA WITH PAPULAR LESIONS | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C1859592 | ATRICHIA WITH PAPULAR LESIONS | AGPAT2 | 10555 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | O15120 |
| C1859592 | ATRICHIA WITH PAPULAR LESIONS | ANXA5 | 308 | annexin A5 | P08758 |
