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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 |
|---|---|---|---|---|---|
| C0005122 | Beriberi | SLC35F3 | 148641 | solute carrier family 35 member F3 | Q8IY50 |
| C0005122 | Beriberi | TKT | 7086 | transketolase | P29401 |
| C0149841 | Benign recurrent intrahepatic cholestasis | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0005001 | Benign prostatic hypertrophy | SRD5A2 | 6716 | steroid 5 alpha-reductase 2 | P31213 |
| C0684354 | Benign neoplasm of sweat gland | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0496870 | Benign neoplasm of liver | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0496870 | Benign neoplasm of liver | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0347272 | Benign neoplasm of large intestine | CEMIP | 57214 | cell migration inducing hyaluronidase 1 | Q8WUJ3 |
| C0496892 | Benign neoplasm of kidney | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0004991 | Benign neoplasm of colon | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0496899 | Benign neoplasm of brain, unspecified | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0496899 | Benign neoplasm of brain, unspecified | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1456781 | Benign melanocytic nevus | HPSE | 10855 | heparanase | Q9Y251 |
| C1456781 | Benign melanocytic nevus | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C1456781 | Benign melanocytic nevus | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C1456781 | Benign melanocytic nevus | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C1456781 | Benign melanocytic nevus | RECK | 8434 | reversion inducing cysteine rich protein with kazal motifs | O95980 |
| C1456781 | Benign melanocytic nevus | GALK1 | 2584 | galactokinase 1 | P51570 |
| C1456781 | Benign melanocytic nevus | GPC3 | 2719 | glypican 3 | P51654 |
| C1456781 | Benign melanocytic nevus | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C1456781 | Benign melanocytic nevus | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C1456781 | Benign melanocytic nevus | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C1456781 | Benign melanocytic nevus | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0684516 | Benign bone neoplasm | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C2363129 | Benign Rolandic Epilepsy | ARSA | 410 | arylsulfatase A | P15289 |
