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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 |
|---|---|---|---|---|---|
| C0009081 | Congenital clubfoot | HSPG2 | 3339 | heparan sulfate proteoglycan 2 | P98160 |
| C0009081 | Congenital clubfoot | ATP6V1A | 523 | ATPase H+ transporting V1 subunit A | P38606 |
| C0009081 | Congenital clubfoot | EBP | 10682 | EBP cholestenol delta-isomerase | Q15125 |
| C0009081 | Congenital clubfoot | FASN | 2194 | fatty acid synthase | P49327 |
| C0009081 | Congenital clubfoot | TGDS | 23483 | TDP-glucose 4,6-dehydratase | O95455 |
| C0009081 | Congenital clubfoot | HADHA | 3030 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha | P40939 |
| C0009081 | Congenital clubfoot | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C0009081 | Congenital clubfoot | HSD17B4 | 3295 | hydroxysteroid 17-beta dehydrogenase 4 | P51659 |
| C0009081 | Congenital clubfoot | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0009081 | Congenital clubfoot | PI4KA | 5297 | phosphatidylinositol 4-kinase alpha | P42356 |
| C0009081 | Congenital clubfoot | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
| C1275808 | Congenital central hypoventilation | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C0009691 | Congenital cataract | GCNT2 | 2651 | glucosaminyl (N-acetyl) transferase 2 (I blood group) | Q8N0V5 |
| C0009691 | Congenital cataract | CRYL1 | 51084 | crystallin lambda 1 | Q9Y2S2 |
| C0009691 | Congenital cataract | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C0009691 | Congenital cataract | AGK | 55750 | acylglycerol kinase | Q53H12 |
| C0009691 | Congenital cataract | SLC33A1 | 9197 | solute carrier family 33 member 1 | O00400 |
| C0009691 | Congenital cataract | GPC5 | 2262 | glypican 5 | P78333 |
| C0009691 | Congenital cataract | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0009691 | Congenital cataract | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0009691 | Congenital cataract | CYP27A1 | 1593 | cytochrome P450 family 27 subfamily A member 1 | Q02318 |
| C0009691 | Congenital cataract | LSS | 4047 | lanosterol synthase | P48449 |
| C0009691 | Congenital cataract | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0009691 | Congenital cataract | ALDH7A1 | 501 | aldehyde dehydrogenase 7 family member A1 | P49419 |
| C0009691 | Congenital cataract | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
