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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 |
|---|---|---|---|---|---|
| C0004364 | Autoimmune Diseases | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0004364 | Autoimmune Diseases | KLRB1 | 3820 | killer cell lectin like receptor B1 | Q12918 |
| C0004364 | Autoimmune Diseases | KLRD1 | 3824 | killer cell lectin like receptor D1 | Q13241 |
| C0004364 | Autoimmune Diseases | ARSD | 414 | arylsulfatase D | P51689 |
| C0004364 | Autoimmune Diseases | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0004364 | Autoimmune Diseases | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0004364 | Autoimmune Diseases | PLD1 | 5337 | phospholipase D1 | Q13393 |
| C0004364 | Autoimmune Diseases | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C0004364 | Autoimmune Diseases | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0004364 | Autoimmune Diseases | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0004364 | Autoimmune Diseases | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0004364 | Autoimmune Diseases | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0004364 | Autoimmune Diseases | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0004364 | Autoimmune Diseases | 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 |
| C0004352 | Autistic Disorder | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0004352 | Autistic Disorder | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
