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 53676 - 53700 of 62743 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Gene Name UniProt ID
C0700639 Pyloric Stenosis, Hypertrophic UGT1A1 54658 UDP glucuronosyltransferase family 1 member A1 P22309
C0034212 Pyoderma GALNS 2588 galactosamine (N-acetyl)-6-sulfatase P34059
C0085652 Pyoderma Gangrenosum SOAT1 6646 sterol O-acyltransferase 1 P35610
C0034341 Pyruvate Carboxylase Deficiency Disease PC 5091 pyruvate carboxylase P11498
C0034341 Pyruvate Carboxylase Deficiency Disease OGDH 4967 oxoglutarate dehydrogenase Q02218
C0034345 Pyruvate Dehydrogenase Complex Deficiency Disease DLAT 1737 dihydrolipoamide S-acetyltransferase P10515
C0034345 Pyruvate Dehydrogenase Complex Deficiency Disease PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C0034345 Pyruvate Dehydrogenase Complex Deficiency Disease PDHB 5162 pyruvate dehydrogenase E1 subunit beta P11177
C0034345 Pyruvate Dehydrogenase Complex Deficiency Disease ACE 1636 angiotensin I converting enzyme P12821
C0034345 Pyruvate Dehydrogenase Complex Deficiency Disease DLD 1738 dihydrolipoamide dehydrogenase P09622
C0034345 Pyruvate Dehydrogenase Complex Deficiency Disease CHPT1 56994 choline phosphotransferase 1 Q8WUD6
C0034345 Pyruvate Dehydrogenase Complex Deficiency Disease DHDDS 79947 dehydrodolichyl diphosphate synthase subunit Q86SQ9
C0034345 Pyruvate Dehydrogenase Complex Deficiency Disease PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0034345 Pyruvate Dehydrogenase Complex Deficiency Disease PDHA2 5161 pyruvate dehydrogenase E1 subunit alpha 2 P29803
C0034345 Pyruvate Dehydrogenase Complex Deficiency Disease ECHS1 1892 enoyl-CoA hydratase, short chain 1 P30084
C1839413 Pyruvate Dehydrogenase E1 Alpha Deficiency PDHA1 5160 pyruvate dehydrogenase E1 subunit alpha 1 P08559
C1839413 Pyruvate Dehydrogenase E1 Alpha Deficiency PDHX 8050 pyruvate dehydrogenase complex component X O00330
C3279841 Pyruvate Dehydrogenase E1-Beta Deficiency PDHB 5162 pyruvate dehydrogenase E1 subunit beta P11177
C1855565 Pyruvate Dehydrogenase E2 Deficiency DLAT 1737 dihydrolipoamide S-acetyltransferase P10515
C1855553 Pyruvate Dehydrogenase E3-Binding Protein Deficiency PDHX 8050 pyruvate dehydrogenase complex component X O00330
C0034362 Q Fever SMUG1 23583 single-strand-selective monofunctional uracil-DNA glycosylase 1 Q53HV7
C0034362 Q Fever DHCR24 1718 24-dehydrocholesterol reductase Q15392
C0034362 Q Fever LSS 4047 lanosterol synthase P48449
C0270790 Quadriparesis POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C0270790 Quadriparesis ST3GAL5 8869 ST3 beta-galactoside alpha-2,3-sialyltransferase 5 Q9UNP4

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Last updated: August 19, 2024