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 9051 - 9075 of 62743 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Gene Name UniProt ID
C3279841 Pyruvate Dehydrogenase E1-Beta Deficiency PDHB 5162 pyruvate dehydrogenase E1 subunit beta P11177
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
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
C0034341 Pyruvate Carboxylase Deficiency Disease PC 5091 pyruvate carboxylase P11498
C0034341 Pyruvate Carboxylase Deficiency Disease OGDH 4967 oxoglutarate dehydrogenase Q02218
C0085652 Pyoderma Gangrenosum SOAT1 6646 sterol O-acyltransferase 1 P35610
C0034212 Pyoderma GALNS 2588 galactosamine (N-acetyl)-6-sulfatase P34059
C0700639 Pyloric Stenosis, Hypertrophic UGT1A1 54658 UDP glucuronosyltransferase family 1 member A1 P22309
C0034194 Pyloric Stenosis ALG13 79868 ALG13 UDP-N-acetylglucosaminyltransferase subunit Q9NP73
C0034194 Pyloric Stenosis IL1RAPL1 11141 interleukin 1 receptor accessory protein like 1 Q9NZN1
C0034194 Pyloric Stenosis TMTC3 160418 transmembrane O-mannosyltransferase targeting cadherins 3 Q6ZXV5
C0034194 Pyloric Stenosis SMC3 9126 structural maintenance of chromosomes 3 Q9UQE7
C0034194 Pyloric Stenosis FIG4 9896 FIG4 phosphoinositide 5-phosphatase Q92562
C0034194 Pyloric Stenosis AGPAT2 10555 1-acylglycerol-3-phosphate O-acyltransferase 2 O15120
C0034194 Pyloric Stenosis ACSL4 2182 acyl-CoA synthetase long chain family member 4 O60488

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Last updated: August 19, 2024