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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 |
|---|---|---|---|---|---|
| C0000768 | Congenital Abnormality | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0000768 | Congenital Abnormality | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0000768 | Congenital Abnormality | DGKK | 139189 | diacylglycerol kinase kappa | Q5KSL6 |
| C0000768 | Congenital Abnormality | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C0000768 | Congenital Abnormality | ADH1C | 126 | alcohol dehydrogenase 1C (class I), gamma polypeptide | P00326 |
| C0000768 | Congenital Abnormality | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0000768 | Congenital Abnormality | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C0000768 | Congenital Abnormality | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0000768 | Congenital Abnormality | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0000768 | Congenital Abnormality | ACAN | 176 | aggrecan | P16112 |
| C0000768 | Congenital Abnormality | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0000768 | Congenital Abnormality | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0000768 | Congenital Abnormality | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0000768 | Congenital Abnormality | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0000768 | Congenital Abnormality | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
| C0000768 | Congenital Abnormality | ARSH | 347527 | arylsulfatase family member H | Q5FYA8 |
| C0000768 | Congenital Abnormality | INPP4A | 3631 | inositol polyphosphate-4-phosphatase type I A | Q96PE3 |
| C0000768 | Congenital Abnormality | INPP5D | 3635 | inositol polyphosphate-5-phosphatase D | Q92835 |
| C0000768 | Congenital Abnormality | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0000768 | Congenital Abnormality | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0000768 | Congenital Abnormality | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0000768 | Congenital Abnormality | NDUFAB1 | 4706 | NADH:ubiquinone oxidoreductase subunit AB1 | O14561 |
| C0000768 | Congenital Abnormality | CLEC1B | 51266 | C-type lectin domain family 1 member B | Q9P126 |
| C0000768 | Congenital Abnormality | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0000768 | Congenital Abnormality | PRNP | 5621 | prion protein | P04156 |
