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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 |
|---|---|---|---|---|---|
| C1832736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | ALG3 | 10195 | ALG3 alpha-1,3- mannosyltransferase | Q92685 |
| C1832736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1832736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Id | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
| C4479353 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq | COG2 | 22796 | component of oligomeric golgi complex 2 | Q14746 |
| C4225190 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIp | TMEM199 | 147007 | transmembrane protein 199 | Q8N511 |
| C4225191 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIo | CCDC115 | 84317 | coiled-coil domain containing 115 | Q96NT0 |
| C4225234 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C3553230 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C3150736 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj | COG4 | 25839 | component of oligomeric golgi complex 4 | Q9H9E3 |
| C1844777 | CONE DYSTROPHY, X-LINKED, 1 | CD48 | 962 | CD48 molecule | P09326 |
| C4538570 | COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C3150275 | COMPLEMENT COMPONENT 2 DEFICIENCY | OTOA | 146183 | otoancorin | Q7RTW8 |
| C3150275 | COMPLEMENT COMPONENT 2 DEFICIENCY | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C3150275 | COMPLEMENT COMPONENT 2 DEFICIENCY | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C3150275 | COMPLEMENT COMPONENT 2 DEFICIENCY | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | TMTC1 | 83857 | transmembrane O-mannosyltransferase targeting cadherins 1 | Q8IUR5 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | CLEC3A | 10143 | C-type lectin domain family 3 member A | O75596 |
| C3554460 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 | PLCH1 | 23007 | phospholipase C eta 1 | Q4KWH8 |
| C2675481 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C2675481 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | TMTC1 | 83857 | transmembrane O-mannosyltransferase targeting cadherins 1 | Q8IUR5 |
| C2675481 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
