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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 |
|---|---|---|---|---|---|
| C2931498 | Mental Retardation, X-Linked 1 | ACSL4 | 2182 | acyl-CoA synthetase long chain family member 4 | O60488 |
| C2931498 | Mental Retardation, X-Linked 1 | STS | 412 | steroid sulfatase | P08842 |
| C2931618 | Gestational trophoblastic disease | ACOT7 | 11332 | acyl-CoA thioesterase 7 | O00154 |
| C2931618 | Gestational trophoblastic disease | VCAN | 1462 | versican | P13611 |
| C2931618 | Gestational trophoblastic disease | HMMR | 3161 | hyaluronan mediated motility receptor | O75330 |
| C2931618 | Gestational trophoblastic disease | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C2931618 | Gestational trophoblastic disease | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C2931618 | Gestational trophoblastic disease | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C2931618 | Gestational trophoblastic disease | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C2931618 | Gestational trophoblastic disease | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C2931618 | Gestational trophoblastic disease | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C2931618 | Gestational trophoblastic disease | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C2931673 | Ceroid lipofuscinosis, neuronal 1, infantile | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C2931673 | Ceroid lipofuscinosis, neuronal 1, infantile | PPT1 | 5538 | palmitoyl-protein thioesterase 1 | P50897 |
| C2931689 | Dystrophia myotonica 2 | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C2931689 | Dystrophia myotonica 2 | PGP | 283871 | phosphoglycolate phosphatase | A6NDG6 |
| C2931689 | Dystrophia myotonica 2 | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C2931689 | Dystrophia myotonica 2 | LPL | 4023 | lipoprotein lipase | P06858 |
| C2931689 | Dystrophia myotonica 2 | SELE | 6401 | selectin E | P16581 |
| C2931689 | Dystrophia myotonica 2 | SELP | 6403 | selectin P | P16109 |
| C2931689 | Dystrophia myotonica 2 | SI | 6476 | sucrase-isomaltase | P14410 |
| C2931689 | Dystrophia myotonica 2 | SLC2A4 | 6517 | solute carrier family 2 member 4 | P14672 |
| C2931689 | Dystrophia myotonica 2 | MGAM | 8972 | maltase-glucoamylase | O43451 |
| C2931689 | Dystrophia myotonica 2 | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C2931689 | Dystrophia myotonica 2 | GCK | 2645 | glucokinase | P35557 |
