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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 |
|---|---|---|---|---|---|
| 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 |
| 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 |
| C0221468 | Vitamin D-dependent rickets | 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 |
| C0342646 | Vitamin D-Dependent Rickets, Type 2A | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| 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 |
| C0042870 | Vitamin D Deficiency | GALC | 2581 | galactosylceramidase | P54803 |
| C0042870 | Vitamin D Deficiency | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0042870 | Vitamin D Deficiency | KL | 9365 | klotho | Q9UEF7 |
| C0042870 | Vitamin D Deficiency | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0042870 | Vitamin D Deficiency | CYP2R1 | 120227 | cytochrome P450 family 2 subfamily R member 1 | Q6VVX0 |
| C0042870 | Vitamin D Deficiency | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
| C0042870 | Vitamin D Deficiency | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0042870 | Vitamin D Deficiency | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0042870 | Vitamin D Deficiency | SLC17A5 | 26503 | solute carrier family 17 member 5 | Q9NRA2 |
| C0042870 | Vitamin D Deficiency | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0042870 | Vitamin D Deficiency | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
