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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 |
| Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C3539168 | PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C3539507 | SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE | CYP2U1 | 113612 | cytochrome P450 family 2 subfamily U member 1 | Q7Z449 |
| C3540852 | Rickets, X-Linked Hypophosphatemic | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C3540852 | Rickets, X-Linked Hypophosphatemic | KL | 9365 | klotho | Q9UEF7 |
| C3541456 | Spondyloepiphyseal Dysplasia Tarda, X-Linked | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C3541456 | Spondyloepiphyseal Dysplasia Tarda, X-Linked | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C3542025 | AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE | SARM1 | 23098 | sterile alpha and TIR motif containing 1 | Q6SZW1 |
| C3542025 | AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C3542025 | AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C3542025 | AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C3543867 | Collodion Fetus | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C3549742 | Breast cancer, lobular | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C3549742 | Breast cancer, lobular | VTCN1 | 79679 | V-set domain containing T cell activation inhibitor 1 | Q7Z7D3 |
| C3549742 | Breast cancer, lobular | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C3550904 | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 36 | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C3550973 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 | ENO2 | 2026 | enolase 2 | P09104 |
| C3550973 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C3550973 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 | PLA2G6 | 8398 | phospholipase A2 group VI | O60733 |
| C3550973 | NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 | PLA2G1B | 5319 | phospholipase A2 group IB | P04054 |
| C3551716 | CORTISONE REDUCTASE DEFICIENCY 1 | H6PD | 9563 | hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase | O95479 |
| C3552335 | MYASTHENIC SYNDROME, CONGENITAL, 12 | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C3553230 | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C3553270 | DIARRHEA 6 | UGT1A1 | 54658 | UDP glucuronosyltransferase family 1 member A1 | P22309 |
| C3553330 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C3553382 | CORTISONE REDUCTASE DEFICIENCY 2 | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
