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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 |
|---|---|---|---|---|---|
| C0080178 | Spina Bifida | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0080178 | Spina Bifida | HK1 | 3098 | hexokinase 1 | P19367 |
| C0080178 | Spina Bifida | CD38 | 952 | CD38 molecule | P28907 |
| C0080178 | Spina Bifida | FOLR2 | 2350 | folate receptor beta | P14207 |
| C0080178 | Spina Bifida | FOLR1 | 2348 | folate receptor alpha | P15328 |
| C0080178 | Spina Bifida | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| C0080178 | Spina Bifida | GPC5 | 2262 | glypican 5 | P78333 |
| C0080178 | Spina Bifida | CHKA | 1119 | choline kinase alpha | P35790 |
| C0080178 | Spina Bifida | ITPK1 | 3705 | inositol-tetrakisphosphate 1-kinase | Q13572 |
| C0080178 | Spina Bifida | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0037899 | Sphingolipidoses | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0037899 | Sphingolipidoses | ARSA | 410 | arylsulfatase A | P15289 |
| C0037899 | Sphingolipidoses | PSAP | 5660 | prosaposin | P07602 |
| C0037899 | Sphingolipidoses | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1 | P17405 |
| C0037899 | Sphingolipidoses | OGA | 10724 | O-GlcNAcase | O60502 |
| C0037899 | Sphingolipidoses | SGPL1 | 8879 | sphingosine-1-phosphate lyase 1 | O95470 |
| C0037899 | Sphingolipidoses | CYP11A1 | 1583 | cytochrome P450 family 11 subfamily A member 1 | P05108 |
| C1565951 | Sphenoid Wing Meningioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0037856 | Spermatic Cord Torsion | B4GALT7 | 11285 | beta-1,4-galactosyltransferase 7 | Q9UBV7 |
| C0037856 | Spermatic Cord Torsion | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0037856 | Spermatic Cord Torsion | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C0037856 | Spermatic Cord Torsion | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0037822 | Speech Disorders | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0037822 | Speech Disorders | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0037822 | Speech Disorders | FKTN | 2218 | fukutin | O75072 |
