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 |
---|---|---|---|---|---|
C1800706 | Idiopathic Pulmonary Fibrosis | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
C1800706 | Idiopathic Pulmonary Fibrosis | ENPP2 | 5168 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | Q13822 |
C1800706 | Idiopathic Pulmonary Fibrosis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
C1800706 | Idiopathic Pulmonary Fibrosis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
C1800706 | Idiopathic Pulmonary Fibrosis | PKD1 | 5310 | polycystin 1, transient receptor potential channel interacting | P98161 |
C1800706 | Idiopathic Pulmonary Fibrosis | PKD2 | 5311 | polycystin 2, transient receptor potential cation channel | Q13563 |
C1800706 | Idiopathic Pulmonary Fibrosis | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
C1800706 | Idiopathic Pulmonary Fibrosis | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
C1800706 | Idiopathic Pulmonary Fibrosis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
C1800706 | Idiopathic Pulmonary Fibrosis | SFTPC | 6440 | surfactant protein C | P11686 |
C1800706 | Idiopathic Pulmonary Fibrosis | SHMT2 | 6472 | serine hydroxymethyltransferase 2 | P34897 |
C1800706 | Idiopathic Pulmonary Fibrosis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
C1802395 | Congenital muscular hypertrophy-cerebral syndrome | SMC3 | 9126 | structural maintenance of chromosomes 3 | Q9UQE7 |
C1829703 | Carnitine palmitoyl transferase 1A deficiency | CPT2 | 1376 | carnitine palmitoyltransferase 2 | P23786 |
C1829703 | Carnitine palmitoyl transferase 1A deficiency | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
C1832174 | DOYNE HONEYCOMB RETINAL DYSTROPHY | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
C1832187 | Deafness, Autosomal Dominant 12 | TECTA | 7007 | tectorin alpha | O75443 |
C1832229 | Rieger syndrome 2 (disorder) | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
C1832232 | Peroxisome Biogenesis Disorder, Complementation Group C | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
C1832321 | INFLAMMATORY BOWEL DISEASE 2 | GALM | 130589 | galactose mutarotase | Q96C23 |
C1832370 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
C1832370 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
C1832370 | MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED | MTM1 | 4534 | myotubularin 1 | Q13496 |
C1832399 | Charcot-Marie-Tooth disease, Type 4B1 | MTM1 | 4534 | myotubularin 1 | Q13496 |
C1832399 | Charcot-Marie-Tooth disease, Type 4B1 | MTMR2 | 8898 | myotubularin related protein 2 | Q13614 |
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Last updated: August 19, 2024