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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 |
|---|---|---|---|---|---|
| C0019270 | Hernia | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0019270 | Hernia | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0019270 | Hernia | GALNS | 2588 | galactosamine (N-acetyl)-6-sulfatase | P34059 |
| C0019270 | Hernia | ARSA | 410 | arylsulfatase A | P15289 |
| C0019270 | Hernia | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0019270 | Hernia | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0019270 | Hernia | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C0019270 | Hernia | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0019270 | Hernia | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0019270 | Hernia | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0019270 | Hernia | CD38 | 952 | CD38 molecule | P28907 |
| C0019270 | Hernia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0019270 | Hernia | ACAN | 176 | aggrecan | P16112 |
| C0019270 | Hernia | SRGN | 5552 | serglycin | P10124 |
| C0019270 | Hernia | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0019270 | Hernia | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0019270 | Hernia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0019270 | Hernia | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C0019269 | Hermaphroditism | CDIPT | 10423 | CDP-diacylglycerol--inositol 3-phosphatidyltransferase | O14735 |
| C0019269 | Hermaphroditism | MECR | 51102 | mitochondrial trans-2-enoyl-CoA reductase | Q9BV79 |
| C0019269 | Hermaphroditism | AKR1C2 | 1646 | aldo-keto reductase family 1 member C2 | P52895 |
| C0019269 | Hermaphroditism | AKR1C1 | 1645 | aldo-keto reductase family 1 member C1 | Q04828 |
| C0019269 | Hermaphroditism | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C0019269 | Hermaphroditism | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0019269 | Hermaphroditism | HSD17B3 | 3293 | hydroxysteroid 17-beta dehydrogenase 3 | P37058 |
