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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 |
|---|---|---|---|---|---|
| C0042870 | Vitamin D Deficiency | HSD11B2 | 3291 | hydroxysteroid 11-beta dehydrogenase 2 | P80365 |
| C0042870 | Vitamin D Deficiency | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0042870 | Vitamin D Deficiency | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0042870 | Vitamin D Deficiency | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1838657 | Vitamin D Hydroxylation-Deficient Rickets, Type 1B | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C1838657 | Vitamin D Hydroxylation-Deficient Rickets, Type 1B | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0342646 | Vitamin D-Dependent Rickets, Type 2A | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C3536984 | Vitamin D-Resistant Rickets, X-Linked | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C3536984 | Vitamin D-Resistant Rickets, X-Linked | KL | 9365 | klotho | Q9UEF7 |
| C3536984 | Vitamin D-Resistant Rickets, X-Linked | SFTPA1 | 653509 | surfactant protein A1 | Q8IWL2 |
| C3536984 | Vitamin D-Resistant Rickets, X-Linked | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0221468 | Vitamin D-dependent rickets | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0268689 | Vitamin D-dependent rickets, type 1 | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0268689 | Vitamin D-dependent rickets, type 1 | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0268689 | Vitamin D-dependent rickets, type 1 | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0042880 | Vitamin K Deficiency | GLA | 2717 | galactosidase alpha | P06280 |
| C0042880 | Vitamin K Deficiency | PC | 5091 | pyruvate carboxylase | P11498 |
| C0042880 | Vitamin K Deficiency | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C0042880 | Vitamin K Deficiency | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0042880 | Vitamin K Deficiency | LMAN1 | 3998 | lectin, mannose binding 1 | P49257 |
| C0339510 | Vitelliform Macular Dystrophy | PYGM | 5837 | glycogen phosphorylase, muscle associated | P11217 |
| C0339510 | Vitelliform Macular Dystrophy | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
| C0339510 | Vitelliform Macular Dystrophy | ALOX12 | 239 | arachidonate 12-lipoxygenase, 12S type | P18054 |
| C0339510 | Vitelliform Macular Dystrophy | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0339510 | Vitelliform Macular Dystrophy | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
