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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 |
|---|---|---|---|---|---|
| C2675526 | Neutropenia, Severe Congenital, Autosomal Recessive 4 | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C2675496 | Retinitis Pigmentosa 46 | IDH3B | 3420 | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta | O43837 |
| C2675491 | AMYOTROPHIC LATERAL SCLEROSIS 11 | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C2675487 | Mental Retardation, Autosomal Dominant 4 | ST3GAL4 | 6484 | ST3 beta-galactoside alpha-2,3-sialyltransferase 4 | Q11206 |
| C2675481 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | PIGU | 128869 | phosphatidylinositol glycan anchor biosynthesis class U | Q9H490 |
| C2675481 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | TMTC1 | 83857 | transmembrane O-mannosyltransferase targeting cadherins 1 | Q8IUR5 |
| C2675481 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C2675481 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | ELOVL5 | 60481 | ELOVL fatty acid elongase 5 | Q9NYP7 |
| C2675481 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | FADS2 | 9415 | fatty acid desaturase 2 | O95864 |
| C2675481 | COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 | CLEC3A | 10143 | C-type lectin domain family 3 member A | O75596 |
| C2675185 | Kahrizi Syndrome | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C2674616 | FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C2674616 | FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) | PLA2G2A | 5320 | phospholipase A2 group IIA | P14555 |
| C2674616 | FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C2674616 | FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) | NTHL1 | 4913 | nth like DNA glycosylase 1 | P78549 |
| C2674616 | FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED (disorder) | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C2674218 | SPHEROCYTOSIS, TYPE 1 (disorder) | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C2674218 | SPHEROCYTOSIS, TYPE 1 (disorder) | CAT | 847 | catalase | P04040 |
| C2674218 | SPHEROCYTOSIS, TYPE 1 (disorder) | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C2674173 | Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C2673635 | Combined Saposin Deficiency | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C2673635 | Combined Saposin Deficiency | PSAP | 5660 | prosaposin | P07602 |
| C2673477 | Hypophosphatasia, Perinatal Lethal | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C2673377 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C2673377 | MUCOLIPIDOSIS II ALPHA/BETA (disorder) | NAGPA | 51172 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Q9UK23 |
