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 |
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DisGeNET | July 29, 2024 |
Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
C2931689 | Dystrophia myotonica 2 | DAG1 | 1605 | dystroglycan 1 | Q14118 |
C2931689 | Dystrophia myotonica 2 | GCK | 2645 | glucokinase | P35557 |
C2931689 | Dystrophia myotonica 2 | FASN | 2194 | fatty acid synthase | P49327 |
C2931689 | Dystrophia myotonica 2 | MTMR1 | 8776 | myotubularin related protein 1 | Q13613 |
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 |
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 |
C2931498 | Mental Retardation, X-Linked 1 | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
C2931498 | Mental Retardation, X-Linked 1 | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein like 1 | Q9NZN1 |
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 |
C2931456 | Prostate cancer, familial | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
C2931456 | Prostate cancer, familial | LGALS8 | 3964 | galectin 8 | O00214 |
C2931456 | Prostate cancer, familial | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
C2931456 | Prostate cancer, familial | CYP1A1 | 1543 | cytochrome P450 family 1 subfamily A member 1 | P04798 |
C2931456 | Prostate cancer, familial | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
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Last updated: August 19, 2024