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 53776 - 53800 of 62743 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Gene Name UniProt ID
C1968949 Cakut PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C1968949 Cakut PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C1968949 Cakut PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C2749685 CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder) CTNS 1497 cystinosin, lysosomal cystine transporter O60931
C4479409 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C4479409 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID ATP6V1A 523 ATPase H+ transporting V1 subunit A P38606
C4479387 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C4479387 CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC ATP6V1A 523 ATPase H+ transporting V1 subunit A P38606
C0206138 CREST Syndrome FCGR3B 2215 Fc fragment of IgG receptor IIIb O75015
C0206138 CREST Syndrome MRC1 4360 mannose receptor C-type 1 P22897
C0206138 CREST Syndrome CD22 933 CD22 molecule P20273
C2678439 CRANIOOSTEOARTHROPATHY ACSS2 55902 acyl-CoA synthetase short chain family member 2 Q9NR19
C1852502 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT POMT1 10585 protein O-mannosyltransferase 1 Q9Y6A1
C1852502 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT FKTN 2218 fukutin O75072
C1852502 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT POMT2 29954 protein O-mannosyltransferase 2 Q9UKY4
C1852502 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT FKRP 79147 fukutin related protein Q9H9S5
C1852502 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT ST3GAL4 6484 ST3 beta-galactoside alpha-2,3-sialyltransferase 4 Q11206
C1852502 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT MPI 4351 mannose phosphate isomerase P34949
C1852502 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT IGF2R 3482 insulin like growth factor 2 receptor P11717
C1852502 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT LGALS4 3960 galectin 4 P56470
C1852502 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT CHKB 1120 choline kinase beta Q9Y259
C1852502 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT ACE 1636 angiotensin I converting enzyme P12821
C1852502 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT CD177 57126 CD177 molecule Q8N6Q3
C1852502 CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT DAG1 1605 dystroglycan 1 Q14118
C3554518 COWDEN SYNDROME 5 PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336

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Last updated: August 19, 2024