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 |
---|---|---|---|---|---|
C0029422 | Osteochondrodysplasias | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
C0029422 | Osteochondrodysplasias | ACAN | 176 | aggrecan | P16112 |
C0029422 | Osteochondrodysplasias | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
C0029422 | Osteochondrodysplasias | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
C0029422 | Osteochondrodysplasias | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
C0029422 | Osteochondrodysplasias | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
C0029422 | Osteochondrodysplasias | ALDH3A2 | 224 | aldehyde dehydrogenase 3 family member A2 | P51648 |
C0029422 | Osteochondrodysplasias | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C0206641 | Osteochondromatosis | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
C0206641 | Osteochondromatosis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
C0206641 | Osteochondromatosis | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
C0206641 | Osteochondromatosis | UXS1 | 80146 | UDP-glucuronate decarboxylase 1 | Q8NBZ7 |
C0206641 | Osteochondromatosis | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
C0206641 | Osteochondromatosis | SDC2 | 6383 | syndecan 2 | P34741 |
C0029429 | Osteochondrosis | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
C0264009 | Osteodystrophy | CYP27B1 | 1594 | cytochrome P450 family 27 subfamily B member 1 | O15528 |
C0029434 | Osteogenesis Imperfecta | CD38 | 952 | CD38 molecule | P28907 |
C0029434 | Osteogenesis Imperfecta | DCN | 1634 | decorin | P07585 |
C0029434 | Osteogenesis Imperfecta | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
C0029434 | Osteogenesis Imperfecta | SMPD3 | 55512 | sphingomyelin phosphodiesterase 3 | Q9NY59 |
C0029434 | Osteogenesis Imperfecta | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
C0029434 | Osteogenesis Imperfecta | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
C0029434 | Osteogenesis Imperfecta | BAAT | 570 | bile acid-CoA:amino acid N-acyltransferase | Q14032 |
C0029434 | Osteogenesis Imperfecta | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C3279564 | Osteogenesis Imperfecta, Type VI | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
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Last updated: August 19, 2024