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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 |
|---|---|---|---|---|---|
| C4014516 | DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C3553270 | DIARRHEA 6 | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C2750737 | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C2750737 | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C2750737 | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | PRNP | 5621 | prion protein | P04156 |
| C2750737 | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C2750737 | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | PRNP | 5621 | prion protein | F7VJQ1 |
| C4748579 | DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C1833104 | DIABETES MELLITUS, PERMANENT NEONATAL | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C1833104 | DIABETES MELLITUS, PERMANENT NEONATAL | GCK | 2645 | glucokinase | P35557 |
| C1833218 | DIABETES MELLITUS, INSULIN-DEPENDENT, 8 | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
| C4014294 | DESBUQUOIS DYSPLASIA 2 | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C1844677 | DEAFNESS, X-LINKED 1 (disorder) | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C1969621 | DEAFNESS, AUTOSOMAL RECESSIVE 63 | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q8WZ04 |
| C1969621 | DEAFNESS, AUTOSOMAL RECESSIVE 63 | LRTOMT | 220074 | leucine rich transmembrane and O-methyltransferase domain containing | Q96E66 |
| C3538946 | DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C3538946 | DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT | RENBP | 5973 | renin binding protein | P51606 |
| C1838701 | DEAFNESS, AUTOSOMAL RECESSIVE 2 | TECTA | 7007 | tectorin alpha | O75443 |
| C3554163 | DEAFNESS, AUTOSOMAL RECESSIVE 18B | OTOG | 340990 | otogelin | Q6ZRI0 |
| C1846647 | DEAFNESS, AUTOSOMAL RECESSIVE (disorder) | OTOA | 146183 | otoancorin | Q7RTW8 |
| C3150909 | D-2-HYDROXYGLUTARIC ACIDURIA 2 | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C3152055 | D-2-HYDROXYGLUTARIC ACIDURIA 1 | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C3152055 | D-2-HYDROXYGLUTARIC ACIDURIA 1 | GCDH | 2639 | glutaryl-CoA dehydrogenase | Q92947 |
| C3152055 | D-2-HYDROXYGLUTARIC ACIDURIA 1 | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0206178 | Cytomegalovirus Retinitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
