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 12301 - 12325 of 62743 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Gene Name UniProt ID
C0279988 Childhood Angiosarcoma PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C0279988 Childhood Angiosarcoma PTEN 5728 phosphatase and tensin homolog P60484
C1858991 Childhood Ataxia with Central Nervous System Hypomyelinization HAS2 3037 hyaluronan synthase 2 Q92819
C1858991 Childhood Ataxia with Central Nervous System Hypomyelinization CHST11 50515 carbohydrate sulfotransferase 11 Q9NPF2
C1858991 Childhood Ataxia with Central Nervous System Hypomyelinization APRT 353 adenine phosphoribosyltransferase P07741
C1858991 Childhood Ataxia with Central Nervous System Hypomyelinization ACOT12 134526 acyl-CoA thioesterase 12 Q8WYK0
C1858991 Childhood Ataxia with Central Nervous System Hypomyelinization MICA 100507436 MHC class I polypeptide-related sequence A Q29983
C1858991 Childhood Ataxia with Central Nervous System Hypomyelinization SCP2 6342 sterol carrier protein 2 P22307
C1858991 Childhood Ataxia with Central Nervous System Hypomyelinization SOAT1 6646 sterol O-acyltransferase 1 P35610
C0279584 Childhood B Acute Lymphoblastic Leukemia FUT4 2526 fucosyltransferase 4 P22083
C0279584 Childhood B Acute Lymphoblastic Leukemia LIPA 3988 lipase A, lysosomal acid type P38571
C0279584 Childhood B Acute Lymphoblastic Leukemia CD38 952 CD38 molecule P28907
C0279584 Childhood B Acute Lymphoblastic Leukemia MBL2 4153 mannose binding lectin 2 P11226
C0279584 Childhood B Acute Lymphoblastic Leukemia SLC2A5 6518 solute carrier family 2 member 5 P22732
C0279584 Childhood B Acute Lymphoblastic Leukemia CD22 933 CD22 molecule P20273
C0279584 Childhood B Acute Lymphoblastic Leukemia PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0279584 Childhood B Acute Lymphoblastic Leukemia FCN2 2220 ficolin 2 Q15485
C0279584 Childhood B Acute Lymphoblastic Leukemia PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C0279584 Childhood B Acute Lymphoblastic Leukemia PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C1851584 Childhood Ependymoma ASAH1 427 N-acylsphingosine amidohydrolase 1 Q13510
C1851584 Childhood Ependymoma AKR1A1 10327 aldo-keto reductase family 1 member A1 P14550
C1851584 Childhood Ependymoma IDH1 3417 isocitrate dehydrogenase (NADP(+)) 1 O75874
C1851584 Childhood Ependymoma CALR 811 calreticulin P27797
C1851584 Childhood Ependymoma PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C1851584 Childhood Ependymoma CD44 960 CD44 molecule (Indian blood group) P16070

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