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
Displaying entries 2601 - 2625 of 62743 in total
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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