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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 |
|---|---|---|---|---|---|
| C3887938 | Deuteranomaly | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C3887938 | Deuteranomaly | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C3887938 | Deuteranomaly | GLDC | 2731 | glycine decarboxylase | P23378 |
| C0341747 | Detrusor and sphincter dyssynergia | SIGLEC7 | 27036 | sialic acid binding Ig like lectin 7 | Q9Y286 |
| C0238378 | Desquamative interstitial pneumonia | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0238378 | Desquamative interstitial pneumonia | SFTPC | 6440 | surfactant protein C | P11686 |
| C0751291 | Desmoplastic Medulloblastoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0432242 | Desbuquois syndrome | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0432242 | Desbuquois syndrome | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0432242 | Desbuquois syndrome | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0432242 | Desbuquois syndrome | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0432242 | Desbuquois syndrome | FAM20B | 9917 | FAM20B glycosaminoglycan xylosylkinase | O75063 |
| C0011649 | Dermoid Cyst | TMTC3 | 160418 | transmembrane O-mannosyltransferase targeting cadherins 3 | Q6ZXV5 |
| C0011649 | Dermoid Cyst | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C0011645 | Dermatosis Papulosa Nigra | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0011636 | Dermatophytosis | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0011636 | Dermatophytosis | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0263666 | Dermatomyositis, Childhood Type | LGALS9 | 3965 | galectin 9 | O00182 |
| C0263666 | Dermatomyositis, Childhood Type | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C0263666 | Dermatomyositis, Childhood Type | PLCG2 | 5336 | phospholipase C gamma 2 | P16885 |
| C0263666 | Dermatomyositis, Childhood Type | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0011633 | Dermatomyositis | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0011633 | Dermatomyositis | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0011633 | Dermatomyositis | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0011633 | Dermatomyositis | IL1RAPL2 | 26280 | interleukin 1 receptor accessory protein like 2 | Q9NP60 |
