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 52126 - 52150 of 62743 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
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
C0010278 Craniosynostosis SLC39A8 64116 solute carrier family 39 member 8 Q9C0K1
C0010278 Craniosynostosis SFTPA1 653509 surfactant protein A1 Q8IWL2
C0010278 Craniosynostosis SFTPA2 729238 surfactant protein A2 Q8IWL1
C0010278 Craniosynostosis VCAM1 7412 vascular cell adhesion molecule 1 P19320
C0010278 Craniosynostosis SLC2A10 81031 solute carrier family 2 member 10 O95528
C0010278 Craniosynostosis PLA2G10 8399 phospholipase A2 group X O15496
C0010278 Craniosynostosis SLC35A2 7355 solute carrier family 35 member A2 P78381
C0010278 Craniosynostosis GPC3 2719 glypican 3 P51654
C0010278 Craniosynostosis GPC1 2817 glypican 1 P35052
C0010278 Craniosynostosis PIK3CA 5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha P42336
C0010278 Craniosynostosis IL1RL1 9173 interleukin 1 receptor like 1 Q01638
C0010278 Craniosynostosis CLC 1178 Charcot-Leyden crystal galectin Q05315
C0010278 Craniosynostosis CYP2B6 1555 cytochrome P450 family 2 subfamily B member 6 P20813
C0010278 Craniosynostosis CYP11B1 1584 cytochrome P450 family 11 subfamily B member 1 P15538
C0010278 Craniosynostosis CYP24A1 1591 cytochrome P450 family 24 subfamily A member 1 Q07973
C0010278 Craniosynostosis GAD2 2572 glutamate decarboxylase 2 Q05329
C0010278 Craniosynostosis ALOX5 240 arachidonate 5-lipoxygenase P09917
C0010278 Craniosynostosis L1CAM 3897 L1 cell adhesion molecule P32004
C0010278 Craniosynostosis PIK3CB 5291 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta P42338
C0010278 Craniosynostosis PIK3CG 5294 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma P48736
C0010278 Craniosynostosis MASP1 5648 mannan binding lectin serine peptidase 1 P48740
C0010278 Craniosynostosis PTEN 5728 phosphatase and tensin homolog P60484

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Last updated: August 19, 2024