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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 |
|---|---|---|---|---|---|
| C3805278 | Extrahepatic Cholangiocarcinoma | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C3805278 | Extrahepatic Cholangiocarcinoma | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C3805278 | Extrahepatic Cholangiocarcinoma | LGALS3 | 3958 | galectin 3 | P17931 |
| C3805278 | Extrahepatic Cholangiocarcinoma | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C3805278 | Extrahepatic Cholangiocarcinoma | VTCN1 | 79679 | V-set domain containing T cell activation inhibitor 1 | Q7Z7D3 |
| C3805278 | Extrahepatic Cholangiocarcinoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C3805278 | Extrahepatic Cholangiocarcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3805278 | Extrahepatic Cholangiocarcinoma | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C3805278 | Extrahepatic Cholangiocarcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C3805278 | Extrahepatic Cholangiocarcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C3805373 | CATARACT 13 WITH ADULT i PHENOTYPE | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C3805618 | CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | PRNP | 5621 | prion protein | P04156 |
| C3805618 | CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED | PRNP | 5621 | prion protein | F7VJQ1 |
| C3806670 | PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1 | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C3806688 | Solute carrier family 35 member A2 congenital disorder of glycosylation | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C3807541 | MACROCEPHALY AND EPILEPTIC ENCEPHALOPATHY | DGKD | 8527 | diacylglycerol kinase delta | Q16760 |
| C3808620 | HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7 | DGKE | 8526 | diacylglycerol kinase epsilon | P52429 |
| C3808739 | MYASTHENIC SYNDROME, CONGENITAL, 8 | AGRN | 375790 | agrin | O00468 |
| C3808964 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C3808986 | HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA | MACROD2 | 140733 | mono-ADP ribosylhydrolase 2 | A1Z1Q3 |
| C3808991 | NGLY1 deficiency | PGM1 | 5236 | phosphoglucomutase 1 | P36871 |
| C3808991 | NGLY1 deficiency | ENGASE | 64772 | endo-beta-N-acetylglucosaminidase | Q8NFI3 |
| C3808991 | NGLY1 deficiency | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C3809042 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C3809092 | ADAMS-OLIVER SYNDROME 4 | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
