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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 |
|---|---|---|---|---|---|
| C3696376 | 3-Methylglutaconic Aciduria | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C3696376 | 3-Methylglutaconic Aciduria | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C3696376 | 3-Methylglutaconic Aciduria | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C3696376 | 3-Methylglutaconic Aciduria | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C3697269 | 15q24 Microdeletion | NEIL1 | 79661 | nei like DNA glycosylase 1 | Q96FI4 |
| C3711369 | Succinate-Coa Ligase Deficiency | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C3711369 | Succinate-Coa Ligase Deficiency | SUCLG1 | 8802 | succinate-CoA ligase GDP/ADP-forming subunit alpha | P53597 |
| C3711370 | Spastic Paraplegia Type 7 | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C3711381 | Hereditary Diffuse Leukoencephalopathy with Spheroids | CTSA | 5476 | cathepsin A | P10619 |
| C3711384 | Distal Hereditary Motor Neuropathy, Type II | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C3711384 | Distal Hereditary Motor Neuropathy, Type II | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C3713420 | Familial Hyperaldosteronism | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C3713420 | Familial Hyperaldosteronism | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C3714506 | Meckel syndrome type 1 | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C3714506 | Meckel syndrome type 1 | ALDH1A3 | 220 | aldehyde dehydrogenase 1 family member A3 | P47895 |
| C3714506 | Meckel syndrome type 1 | PTGDS | 5730 | prostaglandin D2 synthase | P41222 |
| C3714509 | Nutrition Disorders | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3714524 | Fibromyxosarcoma | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C3714524 | Fibromyxosarcoma | DCN | 1634 | decorin | P07585 |
| C3714524 | Fibromyxosarcoma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C3714534 | dowling-degos disease | POFUT1 | 23509 | protein O-fucosyltransferase 1 | Q9H488 |
| C3714534 | dowling-degos disease | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C3714534 | dowling-degos disease | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C3714534 | dowling-degos disease | ACAN | 176 | aggrecan | P16112 |
| C3714534 | dowling-degos disease | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
