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 |
---|---|---|---|---|---|
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