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 |
---|---|---|---|---|---|
C1510586 | Autism Spectrum Disorders | AMT | 275 | aminomethyltransferase | P48728 |
C1510586 | Autism Spectrum Disorders | HAGH | 3029 | hydroxyacylglutathione hydrolase | Q16775 |
C1510586 | Autism Spectrum Disorders | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
C1510586 | Autism Spectrum Disorders | ARSD | 414 | arylsulfatase D | P51689 |
C1510586 | Autism Spectrum Disorders | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C1510586 | Autism Spectrum Disorders | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
C1510586 | Autism Spectrum Disorders | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
C1510586 | Autism Spectrum Disorders | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
C1510586 | Autism Spectrum Disorders | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C1510586 | Autism Spectrum Disorders | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
C1510586 | Autism Spectrum Disorders | PLAUR | 5329 | plasminogen activator, urokinase receptor | Q03405 |
C1510586 | Autism Spectrum Disorders | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C1510586 | Autism Spectrum Disorders | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C1510586 | Autism Spectrum Disorders | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
C1510586 | Autism Spectrum Disorders | CNTN2 | 6900 | contactin 2 | Q02246 |
C1510586 | Autism Spectrum Disorders | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
C0004352 | Autistic Disorder | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
C0004352 | Autistic Disorder | SLC35A3 | 23443 | solute carrier family 35 member A3 | Q9Y2D2 |
C0004352 | Autistic Disorder | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
C0004352 | Autistic Disorder | ST8SIA2 | 8128 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | Q92186 |
C0004352 | Autistic Disorder | GALNT14 | 79623 | polypeptide N-acetylgalactosaminyltransferase 14 | Q96FL9 |
C0004352 | Autistic Disorder | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
C0004352 | Autistic Disorder | MAN1B1 | 11253 | mannosidase alpha class 1B member 1 | Q9UKM7 |
C0004352 | Autistic Disorder | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
C0004352 | Autistic Disorder | NAGA | 4668 | alpha-N-acetylgalactosaminidase | P17050 |
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Last updated: August 19, 2024