Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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 |
|---|---|---|---|---|---|
| C0268238 | Triglyceride storage disease with ichthyosis | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0268238 | Triglyceride storage disease with ichthyosis | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0268238 | Triglyceride storage disease with ichthyosis | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C0268238 | Triglyceride storage disease with ichthyosis | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0268238 | Triglyceride storage disease with ichthyosis | PEMT | 10400 | phosphatidylethanolamine N-methyltransferase | Q9UBM1 |
| C0265535 | Trigonocephaly | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C0265535 | Trigonocephaly | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C1860808 | Triosephosphate Isomerase Deficiency | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0241397 | Triphalangeal thumb | UMOD | 7369 | uromodulin | P07911 |
| C4317091 | Trisomy 18 Syndrome | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C4317091 | Trisomy 18 Syndrome | CD38 | 952 | CD38 molecule | P28907 |
| C0041182 | Trophoblastic Neoplasms | HSD3B1 | 3283 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 | P14060 |
| C0041182 | Trophoblastic Neoplasms | LGALS1 | 3956 | galectin 1 | P09382 |
| C0030481 | Tropical Spastic Paraparesis | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0030481 | Tropical Spastic Paraparesis | ACAN | 176 | aggrecan | P16112 |
| C0030481 | Tropical Spastic Paraparesis | KLRC1 | 3821 | killer cell lectin like receptor C1 | P26715 |
| C0030481 | Tropical Spastic Paraparesis | SELL | 6402 | selectin L | P14151 |
| C0030481 | Tropical Spastic Paraparesis | KLRD1 | 3824 | killer cell lectin like receptor D1 | Q13241 |
| C0030481 | Tropical Spastic Paraparesis | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0393559 | Troyer syndrome | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0393559 | Troyer syndrome | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0393559 | Troyer syndrome | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0041207 | Truncus Arteriosus, Persistent | UGCG | 7357 | UDP-glucose ceramide glucosyltransferase | Q16739 |
| C0041207 | Truncus Arteriosus, Persistent | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0041207 | Truncus Arteriosus, Persistent | TMEM260 | 54916 | transmembrane protein 260 | Q9NX78 |
