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 |
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DisGeNET | July 29, 2024 |
Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
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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