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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C4317295 | Congenital disorder of glycosylation type 1s | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
C4317295 | Congenital disorder of glycosylation type 1s | TMEM199 | 147007 | transmembrane protein 199 | Q8N511 |
C4317224 | Congenital disorder of glycosylation type 1q | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
C4317224 | Congenital disorder of glycosylation type 1q | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
C4317224 | Congenital disorder of glycosylation type 1q | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
C4317224 | Congenital disorder of glycosylation type 1q | MPI | 4351 | mannose phosphate isomerase | P34949 |
C4317224 | Congenital disorder of glycosylation type 1q | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
C4317224 | Congenital disorder of glycosylation type 1q | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
C4317224 | Congenital disorder of glycosylation type 1q | MPDU1 | 9526 | mannose-P-dolichol utilization defect 1 | O75352 |
C4317224 | Congenital disorder of glycosylation type 1q | MOGS | 7841 | mannosyl-oligosaccharide glucosidase | Q13724 |
C4317091 | Trisomy 18 Syndrome | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
C4317091 | Trisomy 18 Syndrome | CD38 | 952 | CD38 molecule | P28907 |
C4316899 | Cystinosis | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
C4316899 | Cystinosis | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
C4316899 | Cystinosis | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
C4316899 | Cystinosis | LGALS3 | 3958 | galectin 3 | P17931 |
C4316899 | Cystinosis | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
C4316812 | Fibrinogen Deficiency | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
C4310809 | ANTERIOR SEGMENT DYSGENESIS 5 | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
C4310779 | SPERMATOGENIC FAILURE 15 | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
C4310666 | SPERMATOGENIC FAILURE 17 | PLCZ1 | 89869 | phospholipase C zeta 1 | Q86YW0 |
C4310654 | MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC | CHAT | 1103 | choline O-acetyltransferase | P28329 |
C4310624 | BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 | ACOX2 | 8309 | acyl-CoA oxidase 2 | Q99424 |
C4304832 | Primary pigmented nodular adrenocortical disease | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
C4303860 | Craniofacial ulnar renal syndrome | COLEC10 | 10584 | collectin subfamily member 10 | Q9Y6Z7 |
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Last updated: August 19, 2024