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 4326 - 4350 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0005741 Blepharitis SMC3 9126 structural maintenance of chromosomes 3 Q9UQE7
C0005741 Blepharitis PLCD1 5333 phospholipase C delta 1 P51178
C0005741 Blepharitis MSMO1 6307 methylsterol monooxygenase 1 Q15800
C0005744 Blepharophimosis GPC6 10082 glypican 6 Q9Y625
C0005744 Blepharophimosis MOGS 7841 mannosyl-oligosaccharide glucosidase Q13724
C0005744 Blepharophimosis COLEC10 10584 collectin subfamily member 10 Q9Y6Z7
C0005744 Blepharophimosis SLC2A10 81031 solute carrier family 2 member 10 O95528
C0005744 Blepharophimosis HSPG2 3339 heparan sulfate proteoglycan 2 P98160
C0005744 Blepharophimosis ATP6V1A 523 ATPase H+ transporting V1 subunit A P38606
C0005744 Blepharophimosis PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C0005744 Blepharophimosis MASP1 5648 mannan binding lectin serine peptidase 1 P48740
C0005744 Blepharophimosis COLEC11 78989 collectin subfamily member 11 Q9BWP8
C0005744 Blepharophimosis DGCR2 9993 DiGeorge syndrome critical region gene 2 P98153
C0005745 Blepharoptosis B3GLCT 145173 beta 3-glucosyltransferase Q6Y288
C0005745 Blepharoptosis DPAGT1 1798 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 Q9H3H5
C0005745 Blepharoptosis ALG14 199857 ALG14 UDP-N-acetylglucosaminyltransferase subunit Q96F25
C0005745 Blepharoptosis PIGQ 9091 phosphatidylinositol glycan anchor biosynthesis class Q Q9BRB3
C0005745 Blepharoptosis ALG2 85365 ALG2 alpha-1,3/1,6-mannosyltransferase Q9H553
C0005745 Blepharoptosis HS6ST1 9394 heparan sulfate 6-O-sulfotransferase 1 O60243
C0005745 Blepharoptosis GFPT1 2673 glutamine--fructose-6-phosphate transaminase 1 Q06210
C0005745 Blepharoptosis IDS 3423 iduronate 2-sulfatase P22304
C0005745 Blepharoptosis COMT 1312 catechol-O-methyltransferase P21964
C0005745 Blepharoptosis TYMP 1890 thymidine phosphorylase P19971
C0005745 Blepharoptosis DLAT 1737 dihydrolipoamide S-acetyltransferase P10515
C0005745 Blepharoptosis ALDOA 226 aldolase, fructose-bisphosphate A P04075

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Last updated: August 19, 2024