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 45351 - 45375 of 62743 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Gene Name UniProt ID
C0241005 Creatine phosphokinase serum increased CRPPA 729920 CDP-L-ribitol pyrophosphorylase A A4D126
C1845862 Creatine deficiency, X-linked CALR 811 calreticulin P27797
C4551902 Craniosynostosis, Type 1 FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C0010278 Craniosynostosis B3GLCT 145173 beta 3-glucosyltransferase Q6Y288
C0010278 Craniosynostosis B3GAT3 26229 beta-1,3-glucuronyltransferase 3 O94766
C0010278 Craniosynostosis ARSA 410 arylsulfatase A P15289
C0010278 Craniosynostosis GNPTAB 79158 N-acetylglucosamine-1-phosphate transferase subunits alpha and beta Q3T906
C0010278 Craniosynostosis GPC6 10082 glypican 6 Q9Y625
C0010278 Craniosynostosis CHI3L1 1116 chitinase 3 like 1 P36222
C0010278 Craniosynostosis LYZ 4069 lysozyme P61626
C0010278 Craniosynostosis ENPP1 5167 ectonucleotide pyrophosphatase/phosphodiesterase 1 P22413
C0010278 Craniosynostosis SDC1 6382 syndecan 1 P18827
C0010278 Craniosynostosis IL1RL2 8808 interleukin 1 receptor like 2 Q9HB29
C0010278 Craniosynostosis COLEC10 10584 collectin subfamily member 10 Q9Y6Z7
C0010278 Craniosynostosis FREM1 158326 FRAS1 related extracellular matrix 1 Q5H8C1
C0010278 Craniosynostosis ACSL3 2181 acyl-CoA synthetase long chain family member 3 O95573
C0010278 Craniosynostosis ALPL 249 alkaline phosphatase, biomineralization associated P05186
C0010278 Craniosynostosis HPGDS 27306 hematopoietic prostaglandin D synthase O60760
C0010278 Craniosynostosis ANXA7 310 annexin A7 P20073
C0010278 Craniosynostosis HSD11B1 3290 hydroxysteroid 11-beta dehydrogenase 1 P28845
C0010278 Craniosynostosis MRC1 4360 mannose receptor C-type 1 P22897
C0010278 Craniosynostosis NT5E 4907 5'-nucleotidase ecto P21589
C0010278 Craniosynostosis PIK3CD 5293 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta O00329
C0010278 Craniosynostosis PLA2G2A 5320 phospholipase A2 group IIA P14555
C0010278 Craniosynostosis SFTPD 6441 surfactant protein D P35247

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Last updated: August 19, 2024