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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 |
|---|---|---|---|---|---|
| C0022283 | Incontinentia Pigmenti Achromians | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0022283 | Incontinentia Pigmenti Achromians | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C0022283 | Incontinentia Pigmenti Achromians | CYP51A1 | 1595 | cytochrome P450 family 51 subfamily A member 1 | Q16850 |
| C0022283 | Incontinentia Pigmenti Achromians | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C0022283 | Incontinentia Pigmenti Achromians | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C0022283 | Incontinentia Pigmenti Achromians | COLEC11 | 78989 | collectin subfamily member 11 | Q9BWP8 |
| C0022116 | Ischemia | ANXA5 | 308 | annexin A5 | P08758 |
| C0022116 | Ischemia | LIPC | 3990 | lipase C, hepatic type | P11150 |
| C0022116 | Ischemia | SELL | 6402 | selectin L | P14151 |
| C0022116 | Ischemia | PTGES | 9536 | prostaglandin E synthase | O14684 |
| C0022116 | Ischemia | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0022116 | Ischemia | ABAT | 18 | 4-aminobutyrate aminotransferase | P80404 |
| C0022116 | Ischemia | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0022104 | Irritable Bowel Syndrome | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0022104 | Irritable Bowel Syndrome | SLC26A2 | 1836 | solute carrier family 26 member 2 | P50443 |
| C0022104 | Irritable Bowel Syndrome | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0022104 | Irritable Bowel Syndrome | ARSA | 410 | arylsulfatase A | P15289 |
| C0022104 | Irritable Bowel Syndrome | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0022104 | Irritable Bowel Syndrome | KLB | 152831 | klotho beta | Q86Z14 |
| C0022104 | Irritable Bowel Syndrome | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0022104 | Irritable Bowel Syndrome | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0022104 | Irritable Bowel Syndrome | CHGA | 1113 | chromogranin A | P10645 |
| C0022104 | Irritable Bowel Syndrome | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0022104 | Irritable Bowel Syndrome | ACSBG1 | 23205 | acyl-CoA synthetase bubblegum family member 1 | Q96GR2 |
| C0022104 | Irritable Bowel Syndrome | GLUL | 2752 | glutamate-ammonia ligase | P15104 |
