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 |
---|---|---|---|---|---|
C0038644 | Sudden infant death syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
C0038644 | Sudden infant death syndrome | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
C0038644 | Sudden infant death syndrome | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
C0038644 | Sudden infant death syndrome | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
C0038644 | Sudden infant death syndrome | CYP2C8 | 1558 | cytochrome P450 family 2 subfamily C member 8 | P10632 |
C0038644 | Sudden infant death syndrome | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
C0038644 | Sudden infant death syndrome | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
C0038644 | Sudden infant death syndrome | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
C0038644 | Sudden infant death syndrome | PRNP | 5621 | prion protein | F7VJQ1 |
C1720864 | Sulfatidosis, Juvenile, Austin Type | SUMF1 | 285362 | sulfatase modifying factor 1 | Q8NBK3 |
C1720864 | Sulfatidosis, Juvenile, Austin Type | ARSA | 410 | arylsulfatase A | P15289 |
C0031024 | Suppurative Periapical Periodontitis | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
C0031024 | Suppurative Periapical Periodontitis | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
C0749163 | Supraglottic Squamous Cell Carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C1336538 | Supratentorial Embryonal Tumor, Not Otherwise Specified | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C0038874 | Supratentorial Neoplasms | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
C0334344 | Sweat gland adenocarcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
C2936694 | Swyer Syndrome | PGD | 5226 | phosphogluconate dehydrogenase | P52209 |
C0406775 | Symmetrical dyschromatosis of extremities | ACE | 1636 | angiotensin I converting enzyme | P12821 |
C0406775 | Symmetrical dyschromatosis of extremities | ARSH | 347527 | arylsulfatase family member H | Q5FYA8 |
C0393699 | Symptomatic Infantile Spasms | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
C0393699 | Symptomatic Infantile Spasms | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
C0039075 | Syndactyly | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
C0039075 | Syndactyly | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
C0039075 | Syndactyly | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
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Last updated: August 19, 2024