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
Displaying entries 47951 - 47975 of 62743 in total
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