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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 |
|---|---|---|---|---|---|
| C3495587 | Night Blindness, Congenital Stationary, Type 1A | NYX | 60506 | nyctalopin | Q9GZU5 |
| C3495676 | Anorectal Malformations | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C3495676 | Anorectal Malformations | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C3495676 | Anorectal Malformations | ENO2 | 2026 | enolase 2 | P09104 |
| C3495676 | Anorectal Malformations | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C3495801 | Granulomatosis with polyangiitis | GLA | 2717 | galactosidase alpha | P06280 |
| C3495801 | Granulomatosis with polyangiitis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C3495801 | Granulomatosis with polyangiitis | PARP9 | 83666 | poly(ADP-ribose) polymerase family member 9 | Q8IXQ6 |
| C3495801 | Granulomatosis with polyangiitis | CEL | 1056 | carboxyl ester lipase | P19835 |
| C3495801 | Granulomatosis with polyangiitis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3495801 | Granulomatosis with polyangiitis | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C3495801 | Granulomatosis with polyangiitis | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C3495801 | Granulomatosis with polyangiitis | GBA3 | 57733 | glucosylceramidase beta 3 (gene/pseudogene) | Q9H227 |
| C3495801 | Granulomatosis with polyangiitis | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C3495801 | Granulomatosis with polyangiitis | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C3495801 | Granulomatosis with polyangiitis | KLRB1 | 3820 | killer cell lectin like receptor B1 | Q12918 |
| C3496228 | Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C3496337 | Idiopathic Nephrotic Syndrome | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C3496337 | Idiopathic Nephrotic Syndrome | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C3501372 | Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C3501843 | Nonmedullary Thyroid Carcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C3501843 | Nonmedullary Thyroid Carcinoma | MINPP1 | 9562 | multiple inositol-polyphosphate phosphatase 1 | Q9UNW1 |
| C3501843 | Nonmedullary Thyroid Carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3501843 | Nonmedullary Thyroid Carcinoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C3501843 | Nonmedullary Thyroid Carcinoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
