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 59026 - 59050 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C1970200 MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 ST3GAL3 6487 ST3 beta-galactoside alpha-2,3-sialyltransferase 3 Q11203
C1970209 Alzheimer Disease 12 BCKDHB 594 branched chain keto acid dehydrogenase E1 subunit beta P21953
C1970344 Congenital Disorder Of Glycosylation, Type IIF SLC35A1 10559 solute carrier family 35 member A1 P78382
C1970431 PITT-HOPKINS SYNDROME PTEN 5728 phosphatase and tensin homolog P60484
C1970470 SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2 (disorder) SFTPC 6440 surfactant protein C P11686
C1970820 Fabry Disease, Cardiac Variant GLA 2717 galactosidase alpha P06280
C1970827 Phosphoribosylpyrophosphate Synthetase Superactivity PNP 4860 purine nucleoside phosphorylase P00491
C1970827 Phosphoribosylpyrophosphate Synthetase Superactivity PRPS1 5631 phosphoribosyl pyrophosphate synthetase 1 P60891
C2020284 Stickler syndrome, type 1 CEACAM5 1048 CEA cell adhesion molecule 5 P06731
C2020284 Stickler syndrome, type 1 TECTA 7007 tectorin alpha O75443
C2020284 Stickler syndrome, type 1 COL9A2 1298 collagen type IX alpha 2 chain Q14055
C2020284 Stickler syndrome, type 1 CEACAM6 4680 CEA cell adhesion molecule 6 P40199
C2020284 Stickler syndrome, type 1 PTGS2 5743 prostaglandin-endoperoxide synthase 2 P35354
C2047886 (Idiopathic) normal pressure hydrocephalus SMUG1 23583 single-strand-selective monofunctional uracil-DNA glycosylase 1 Q53HV7
C2047886 (Idiopathic) normal pressure hydrocephalus NCAN 1463 neurocan O14594
C2076596 Influenza A (H5N1) CD14 929 CD14 molecule P08571
C2239176 Liver carcinoma ST3GAL6 10402 ST3 beta-galactoside alpha-2,3-sialyltransferase 6 Q9Y274
C2239176 Liver carcinoma PIGU 128869 phosphatidylinositol glycan anchor biosynthesis class U Q9H490
C2239176 Liver carcinoma B3GALT5 10317 beta-1,3-galactosyltransferase 5 Q9Y2C3
C2239176 Liver carcinoma FUT11 170384 fucosyltransferase 11 Q495W5
C2239176 Liver carcinoma B3GALT6 126792 beta-1,3-galactosyltransferase 6 Q96L58
C2239176 Liver carcinoma SLC35A1 10559 solute carrier family 35 member A1 P78382
C2239176 Liver carcinoma PIGK 10026 phosphatidylinositol glycan anchor biosynthesis class K Q92643
C2239176 Liver carcinoma MGAT5B 146664 alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase B Q3V5L5
C2239176 Liver carcinoma B4GALT7 11285 beta-1,4-galactosyltransferase 7 Q9UBV7

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