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 46651 - 46675 of 62743 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Gene Name UniProt ID
C0266483 Pachygyria ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0042974 von Willebrand Disease ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0010414 Infection by Cryptococcus neoformans ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0016202 Flatfoot ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0497327 Dementia ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0024115 Lung diseases ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0010964 Dandy-Walker Syndrome ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0243026 Sepsis ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0010417 Cryptorchidism ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C1621958 Glioblastoma Multiforme ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0006142 Malignant neoplasm of breast ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C1306503 Congenital exomphalos ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0023787 Lipodystrophy ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0029464 Osteosclerosis ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0011334 Dental caries ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C2931006 Congenital disorder of glycosylation type 1L ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0017636 Glioblastoma ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0019294 Hernia, Inguinal ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0555198 Malignant Glioma ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0013720 Ehlers-Danlos Syndrome ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0009402 Colorectal Carcinoma POFUT1 23509 protein O-fucosyltransferase 1 Q9H488
C4552092 Dowling-Degos disease 1 POFUT1 23509 protein O-fucosyltransferase 1 Q9H488
C0027651 Neoplasms POFUT1 23509 protein O-fucosyltransferase 1 Q9H488
C3714534 dowling-degos disease POFUT1 23509 protein O-fucosyltransferase 1 Q9H488
C0011603 Dermatitis POFUT1 23509 protein O-fucosyltransferase 1 Q9H488

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Last updated: August 19, 2024