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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 |
|---|---|---|---|---|---|
| C0085404 | POEMS Syndrome | SDC1 | 6382 | syndecan 1 | P18827 |
| C0085404 | POEMS Syndrome | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C1868193 | PNEUMOTHORAX, PRIMARY SPONTANEOUS | CERS1 | 10715 | ceramide synthase 1 | P27544 |
| C4722480 | PLCG2-associated antibody deficiency and immune dysregulation | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C1970431 | PITT-HOPKINS SYNDROME | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C4551721 | PERRAULT SYNDROME 1 | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C3539010 | PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP F | ACAN | 176 | aggrecan | P16112 |
| C3539168 | PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C3539168 | PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C3539168 | PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A | CAT | 847 | catalase | P04040 |
| C3539168 | PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C1849193 | PEELING SKIN SYNDROME | CHST8 | 64377 | carbohydrate sulfotransferase 8 | Q9H2A9 |
| C1849193 | PEELING SKIN SYNDROME | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C1849193 | PEELING SKIN SYNDROME | KLRB1 | 3820 | killer cell lectin like receptor B1 | Q12918 |
| C1849193 | PEELING SKIN SYNDROME | BST2 | 684 | bone marrow stromal cell antigen 2 | Q10589 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | ENO1 | 2023 | enolase 1 | P06733 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | LGALS9 | 3965 | galectin 9 | O00182 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | NTNG1 | 22854 | netrin G1 | Q9Y2I2 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | LGALS1 | 3956 | galectin 1 | P09382 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | LGALS3 | 3958 | galectin 3 | P17931 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C4282128 | PATENT DUCTUS ARTERIOSUS 1 | STS | 412 | steroid sulfatase | P08842 |
