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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 |
| Disease ID | Disease Name ▼ | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0020224 | Polyhydramnios | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C0020224 | Polyhydramnios | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0020224 | Polyhydramnios | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C0020224 | Polyhydramnios | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0020224 | Polyhydramnios | AGRN | 375790 | agrin | O00468 |
| C0020224 | Polyhydramnios | MTMR14 | 64419 | myotubularin related protein 14 | Q8NCE2 |
| C0020224 | Polyhydramnios | HACD1 | 9200 | 3-hydroxyacyl-CoA dehydratase 1 | B0YJ81 |
| C0020224 | Polyhydramnios | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0020224 | Polyhydramnios | DPM2 | 8818 | dolichyl-phosphate mannosyltransferase subunit 2, regulatory | O94777 |
| C0020224 | Polyhydramnios | GPC3 | 2719 | glypican 3 | P51654 |
| C0020224 | Polyhydramnios | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0020224 | Polyhydramnios | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0020224 | Polyhydramnios | CNTN1 | 1272 | contactin 1 | Q12860 |
| C0020224 | Polyhydramnios | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0020224 | Polyhydramnios | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0020224 | Polyhydramnios | PAFAH1B1 | 5048 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | P43034 |
| C0085859 | Polyglandular Type I Autoimmune Syndrome | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0085859 | Polyglandular Type I Autoimmune Syndrome | LYZ | 4069 | lysozyme | P61626 |
| C0085859 | Polyglandular Type I Autoimmune Syndrome | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C0085859 | Polyglandular Type I Autoimmune Syndrome | FCGR3B | 2215 | Fc fragment of IgG receptor IIIb | O75015 |
| C0085859 | Polyglandular Type I Autoimmune Syndrome | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0085859 | Polyglandular Type I Autoimmune Syndrome | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0085859 | Polyglandular Type I Autoimmune Syndrome | CD1D | 912 | CD1d molecule | P15813 |
| C0085859 | Polyglandular Type I Autoimmune Syndrome | ADH1A | 124 | alcohol dehydrogenase 1A (class I), alpha polypeptide | P07327 |
| C0085859 | Polyglandular Type I Autoimmune Syndrome | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
