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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 |
|---|---|---|---|---|---|
| C0878544 | Cardiomyopathies | ACADVL | 37 | acyl-CoA dehydrogenase very long chain | P49748 |
| C0878544 | Cardiomyopathies | ACADS | 35 | acyl-CoA dehydrogenase short chain | P16219 |
| C0878544 | Cardiomyopathies | ARSD | 414 | arylsulfatase D | P51689 |
| C0878544 | Cardiomyopathies | OLR1 | 4973 | oxidized low density lipoprotein receptor 1 | P78380 |
| C0878544 | Cardiomyopathies | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0878544 | Cardiomyopathies | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0878544 | Cardiomyopathies | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0878544 | Cardiomyopathies | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0878544 | Cardiomyopathies | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0878544 | Cardiomyopathies | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C0878544 | Cardiomyopathies | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0878675 | Erdheim-Chester Disease | ASAH1 | 427 | N-acylsphingosine amidohydrolase 1 | Q13510 |
| C0878675 | Erdheim-Chester Disease | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0878675 | Erdheim-Chester Disease | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0878675 | Erdheim-Chester Disease | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0878675 | Erdheim-Chester Disease | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0878675 | Erdheim-Chester Disease | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0878677 | Glycogen Storage Disease Type IIb | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0878681 | Dent's disease | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C0878681 | Dent's disease | NAGLU | 4669 | N-acetyl-alpha-glucosaminidase | P54802 |
| C0878681 | Dent's disease | CLC | 1178 | Charcot-Leyden crystal galectin | Q05315 |
| C0878681 | Dent's disease | OCRL | 4952 | OCRL inositol polyphosphate-5-phosphatase | Q01968 |
| C0878684 | SHORT syndrome | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0878684 | SHORT syndrome | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0878684 | SHORT syndrome | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
