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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 |
|---|---|---|---|---|---|
| C1859126 | Stippled epiphyses | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C1859126 | Stippled epiphyses | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C1859133 | RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1 | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C1859317 | Cataract and cardiomyopathy | CS | 1431 | citrate synthase | O75390 |
| C1859317 | Cataract and cardiomyopathy | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C1859353 | Candidiasis, Familial, 2 | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C1859486 | BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C1859486 | BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| 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 |
| 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 |
| C1859722 | Arthrogryposis, renal dysfunction, and cholestasis 1 | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C1859722 | Arthrogryposis, renal dysfunction, and cholestasis 1 | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C1859726 | ARTERIAL TORTUOSITY SYNDROME | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C1859726 | ARTERIAL TORTUOSITY SYNDROME | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C1859727 | Arterial calcification of infancy | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C1859727 | Arterial calcification of infancy | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C1859728 | Coronary Sclerosis, Medial, of Infancy | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C1859844 | LEBER CONGENITAL AMAUROSIS, TYPE II (disorder) | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
