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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name ▲ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C0027773 | Nesidioblastosis | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
C0027773 | Nesidioblastosis | GCK | 2645 | glucokinase | P35557 |
C2931189 | Neural crest tumor | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
C0155550 | Neural hearing loss | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
C0268228 | Neuraminidase 1 deficiency | GLB1 | 2720 | galactosidase beta 1 | P16278 |
C0268228 | Neuraminidase 1 deficiency | NEU1 | 4758 | neuraminidase 1 | Q99519 |
C0268228 | Neuraminidase 1 deficiency | CTSA | 5476 | cathepsin A | P10619 |
C0027809 | Neurilemmoma | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
C0027809 | Neurilemmoma | ARSA | 410 | arylsulfatase A | P15289 |
C0027809 | Neurilemmoma | VCAN | 1462 | versican | P13611 |
C0027809 | Neurilemmoma | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
C0027809 | Neurilemmoma | STS | 412 | steroid sulfatase | P08842 |
C0027809 | Neurilemmoma | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
C0027809 | Neurilemmoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
C0027809 | Neurilemmoma | PRNP | 5621 | prion protein | P04156 |
C0027809 | Neurilemmoma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
C0027809 | Neurilemmoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C0027809 | Neurilemmoma | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
C0027809 | Neurilemmoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
C0027809 | Neurilemmoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C0027809 | Neurilemmoma | PRNP | 5621 | prion protein | F7VJQ1 |
C0027809 | Neurilemmoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C0027809 | Neurilemmoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C0027813 | Neuritis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
C0338473 | Neuroaxonal Dystrophies | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
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Last updated: August 19, 2024