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 8951 - 8975 of 62743 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Gene Name UniProt ID
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
C2678439 CRANIOOSTEOARTHROPATHY ACSS2 55902 acyl-CoA synthetase short chain family member 2 Q9NR19
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
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
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
C2749685 CYSTINOSIS, ATYPICAL NEPHROPATHIC (disorder) CTNS 1497 cystinosin, lysosomal cystine transporter O60931
C1968949 Cakut ATP6AP2 10159 ATPase H+ transporting accessory protein 2 O75787
C1968949 Cakut FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C1968949 Cakut ACE 1636 angiotensin I converting enzyme P12821
C1968949 Cakut PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
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
C0264324 Calcification of trachea EBP 10682 EBP cholestenol delta-isomerase Q15125
C0006663 Calcinosis GALNT3 2591 polypeptide N-acetylgalactosaminyltransferase 3 Q14435
C0006663 Calcinosis KL 9365 klotho Q9UEF7

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