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 51401 - 51425 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0011430 Dentin Dysplasia AKR1C1 1645 aldo-keto reductase family 1 member C1 Q04828
C0011351 Dental Enamel Hypoplasia GALNT3 2591 polypeptide N-acetylgalactosaminyltransferase 3 Q14435
C0011351 Dental Enamel Hypoplasia COG6 57511 component of oligomeric golgi complex 6 Q9Y2V7
C0011351 Dental Enamel Hypoplasia CYP2R1 120227 cytochrome P450 family 2 subfamily R member 1 Q6VVX0
C0011351 Dental Enamel Hypoplasia CYP27B1 1594 cytochrome P450 family 27 subfamily B member 1 O15528
C0011351 Dental Enamel Hypoplasia ALDH3A2 224 aldehyde dehydrogenase 3 family member A2 P51648
C0011351 Dental Enamel Hypoplasia OCRL 4952 OCRL inositol polyphosphate-5-phosphatase Q01968
C0011351 Dental Enamel Hypoplasia PTDSS1 9791 phosphatidylserine synthase 1 P48651
C0011334 Dental caries PIGA 5277 phosphatidylinositol glycan anchor biosynthesis class A P37287
C0011334 Dental caries AGA 175 aspartylglucosaminidase P20933
C0011334 Dental caries ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0011334 Dental caries GALNS 2588 galactosamine (N-acetyl)-6-sulfatase P34059
C0011334 Dental caries GLB1 2720 galactosidase beta 1 P16278
C0011334 Dental caries IDUA 3425 alpha-L-iduronidase P35475
C0011334 Dental caries COG6 57511 component of oligomeric golgi complex 6 Q9Y2V7
C0011334 Dental caries LYZL2 119180 lysozyme like 2 Q7Z4W2
C0011334 Dental caries COMT 1312 catechol-O-methyltransferase P21964
C0011334 Dental caries TMTC3 160418 transmembrane O-mannosyltransferase targeting cadherins 3 Q6ZXV5
C0011334 Dental caries CALR 811 calreticulin P27797
C0011334 Dental caries ACE 1636 angiotensin I converting enzyme P12821
C0011334 Dental caries SGMS2 166929 sphingomyelin synthase 2 Q8NHU3
C0011334 Dental caries ALPL 249 alkaline phosphatase, biomineralization associated P05186
C0011334 Dental caries GLUL 2752 glutamate-ammonia ligase P15104
C0011334 Dental caries MBL2 4153 mannose binding lectin 2 P11226
C0011334 Dental caries SRGN 5552 serglycin P10124

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Last updated: August 19, 2024