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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 |
|---|---|---|---|---|---|
| C1853926 | NONAKA MYOPATHY | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1853736 | Congenital Disorder Of Glycosylation, Type IIB | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
| C1853698 | Rippling muscle disease | CHPT1 | 56994 | choline phosphotransferase 1 | Q8WUD6 |
| C1853698 | Rippling muscle disease | DHDDS | 79947 | dehydrodolichyl diphosphate synthase subunit | Q86SQ9 |
| C1853698 | Rippling muscle disease | FASN | 2194 | fatty acid synthase | P49327 |
| C1853578 | Neuroferritinopathy | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C1853578 | Neuroferritinopathy | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C1853578 | Neuroferritinopathy | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C1853490 | 22q13.3 Deletion Syndrome | ARSA | 410 | arylsulfatase A | P15289 |
| C1853490 | 22q13.3 Deletion Syndrome | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C1853444 | Heterotaxy, Visceral, 3, Autosomal | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C1853297 | MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION | CEL | 1056 | carboxyl ester lipase | P19835 |
| C1853296 | SPONDYLOCOSTAL DYSOSTOSIS, AUTOSOMAL RECESSIVE 3 | LFNG | 3955 | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Q8NES3 |
| C1853235 | Sclerocornea | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1853235 | Sclerocornea | EFNA5 | 1946 | ephrin A5 | P52803 |
| C1853235 | Sclerocornea | ARSD | 414 | arylsulfatase D | P51689 |
| C1853230 | Aphakia, congenital primary | NTM | 50863 | neurotrimin | Q9P121 |
| C1853230 | Aphakia, congenital primary | CYP4F3 | 4051 | cytochrome P450 family 4 subfamily F member 3 | Q08477 |
| C1853195 | Prostate Cancer, Hereditary, 7 | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C1853195 | Prostate Cancer, Hereditary, 7 | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C1853195 | Prostate Cancer, Hereditary, 7 | SIGLEC1 | 6614 | sialic acid binding Ig like lectin 1 | Q9BZZ2 |
| C1853195 | Prostate Cancer, Hereditary, 7 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1853137 | BRACHYDACTYLY-SYNDACTYLY SYNDROME | MBOAT1 | 154141 | membrane bound O-acyltransferase domain containing 1 | Q6ZNC8 |
| C1853124 | NEPHROTIC SYNDROME, TYPE 3 | PLCE1 | 51196 | phospholipase C epsilon 1 | Q9P212 |
| C1853118 | Severe congenital neutropenia | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
