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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 |
|---|---|---|---|---|---|
| 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 |
| C0796028 | ATAXIA, FATAL X-LINKED, WITH DEAFNESS AND LOSS OF VISION | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| 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 |
| C1834523 | ARTHROGRYPOSIS, DISTAL, TYPE 2B | STS | 412 | steroid sulfatase | P08842 |
| C1859726 | ARTERIAL TORTUOSITY SYNDROME | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C1859726 | ARTERIAL TORTUOSITY SYNDROME | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C4551985 | ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C1970109 | AROMATASE EXCESS SYNDROME | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| 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 |
| C4310809 | ANTERIOR SEGMENT DYSGENESIS 5 | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | FUT3 | 2525 | fucosyltransferase 3 (Lewis blood group) | P21217 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | GALNT3 | 2591 | polypeptide N-acetylgalactosaminyltransferase 3 | Q14435 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | C1GALT1C1 | 29071 | C1GALT1 specific chaperone 1 | Q96EU7 |
| C1832661 | ANOPHTHALMIA AND PULMONARY HYPOPLASIA | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
