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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 |
|---|---|---|---|---|---|
| C0027947 | Neutropenia | TNFRSF10C | 8794 | TNF receptor superfamily member 10c | O14798 |
| C0027947 | Neutropenia | LPIN2 | 9663 | lipin 2 | Q92539 |
| C0027947 | Neutropenia | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C0027947 | Neutropenia | G6PC | 2538 | glucose-6-phosphatase catalytic subunit | P35575 |
| C0027947 | Neutropenia | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0027947 | Neutropenia | SLC27A5 | 10998 | solute carrier family 27 member 5 | Q9Y2P5 |
| C0027947 | Neutropenia | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0027947 | Neutropenia | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0027947 | Neutropenia | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0027947 | Neutropenia | CYP2C8 | 1558 | cytochrome P450 family 2 subfamily C member 8 | P10632 |
| C0027947 | Neutropenia | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0027947 | Neutropenia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0027947 | Neutropenia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C2675526 | Neutropenia, Severe Congenital, Autosomal Recessive 4 | G6PC3 | 92579 | glucose-6-phosphatase catalytic subunit 3 | Q9BUM1 |
| C0027960 | Nevus | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0027960 | Nevus | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C0027960 | Nevus | GALK1 | 2584 | galactokinase 1 | P51570 |
| C0027960 | Nevus | MTAP | 4507 | methylthioadenosine phosphorylase | Q13126 |
| C0027960 | Nevus | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0027960 | Nevus | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C0027960 | Nevus | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
| C0027960 | Nevus | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0473583 | Nevus elasticus | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0473583 | Nevus elasticus | XYLT2 | 64132 | xylosyltransferase 2 | Q9H1B5 |
| C0473583 | Nevus elasticus | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
