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 41601 - 41625 of 62743 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Gene Name UniProt ID
C0268355 Cutis Laxa, Autosomal Recessive, Type IIA ATP6V0A2 23545 ATPase H+ transporting V0 subunit a2 Q9Y487
C0268355 Cutis Laxa, Autosomal Recessive, Type IIA ATP6V1A 523 ATPase H+ transporting V1 subunit A P38606
C0268358 Osteogenesis imperfecta, dominant perinatal lethal SMPD3 55512 sphingomyelin phosphodiesterase 3 Q9NY59
C0268362 Osteogenesis imperfecta type III (disorder) SMPD3 55512 sphingomyelin phosphodiesterase 3 Q9NY59
C0268374 Adult junctional epidermolysis bullosa (disorder) GALK1 2584 galactokinase 1 P51570
C0268381 Primary amyloidosis LGALS4 3960 galectin 4 P56470
C0268381 Primary amyloidosis SDC1 6382 syndecan 1 P18827
C0268381 Primary amyloidosis CD38 952 CD38 molecule P28907
C0268381 Primary amyloidosis LGALS3 3958 galectin 3 P17931
C0268381 Primary amyloidosis NCAM1 4684 neural cell adhesion molecule 1 P13591
C0268381 Primary amyloidosis CAT 847 catalase P04040
C0268381 Primary amyloidosis CYP1B1 1545 cytochrome P450 family 1 subfamily B member 1 Q16678
C0268389 Amyloidosis, familial visceral LYZ 4069 lysozyme P61626
C0268390 Muckle-Wells Syndrome NT5E 4907 5'-nucleotidase ecto P21589
C0268390 Muckle-Wells Syndrome PLCG2 5336 phospholipase C gamma 2 P16885
C0268390 Muckle-Wells Syndrome IL18R1 8809 interleukin 18 receptor 1 Q13478
C0268393 Familial Cerebral Amyloid Angiopathy HSPG2 3339 heparan sulfate proteoglycan 2 P98160
C0268393 Familial Cerebral Amyloid Angiopathy SDC2 6383 syndecan 2 P34741
C0268398 Familial lichen amyloidosis PARP1 142 poly(ADP-ribose) polymerase 1 P09874
C0268398 Familial lichen amyloidosis ENO2 2026 enolase 2 P09104
C0268398 Familial lichen amyloidosis PKM 5315 pyruvate kinase M1/2 P14618
C0268398 Familial lichen amyloidosis UGT2B28 54490 UDP glucuronosyltransferase family 2 member B28 Q9BY64
C0268398 Familial lichen amyloidosis UGT2B17 7367 UDP glucuronosyltransferase family 2 member B17 O75795
C0268398 Familial lichen amyloidosis HPGDS 27306 hematopoietic prostaglandin D synthase O60760
C0268398 Familial lichen amyloidosis CERS2 29956 ceramide synthase 2 Q96G23

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Last updated: August 19, 2024