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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 |
|---|---|---|---|---|---|
| C0268155 | Deficiency of galactokinase | GALT | 2592 | galactose-1-phosphate uridylyltransferase | P07902 |
| C0268155 | Deficiency of galactokinase | GK | 2710 | glycerol kinase | P32189 |
| C2873785 | Deficiency of factor V [labile] | MCFD2 | 90411 | multiple coagulation factor deficiency 2, ER cargo receptor complex subunit | Q8NI22 |
| C2873785 | Deficiency of factor V [labile] | LMAN1 | 3998 | lectin, mannose binding 1 | P49257 |
| C0342783 | Deficiency of butyryl-CoA dehydrogenase | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C0342783 | Deficiency of butyryl-CoA dehydrogenase | ACADS | 35 | acyl-CoA dehydrogenase short chain | P16219 |
| C0342783 | Deficiency of butyryl-CoA dehydrogenase | ACADSB | 36 | acyl-CoA dehydrogenase short/branched chain | P45954 |
| C1536500 | Deficiency of acetyl-CoA acetyltransferase | ACAT1 | 38 | acetyl-CoA acetyltransferase 1 | P24752 |
| C1536500 | Deficiency of acetyl-CoA acetyltransferase | ACAT2 | 39 | acetyl-CoA acetyltransferase 2 | Q9BWD1 |
| C1536500 | Deficiency of acetyl-CoA acetyltransferase | ACAA2 | 10449 | acetyl-CoA acyltransferase 2 | P42765 |
| C1536500 | Deficiency of acetyl-CoA acetyltransferase | ACAA1 | 30 | acetyl-CoA acyltransferase 1 | P09110 |
| C1536500 | Deficiency of acetyl-CoA acetyltransferase | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
| C1536500 | Deficiency of acetyl-CoA acetyltransferase | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C1846896 | Deafness, Autosomal Recessive 22 | OTOA | 146183 | otoancorin | Q7RTW8 |
| C1863655 | Deafness, Autosomal Recessive 21 | TECTA | 7007 | tectorin alpha | O75443 |
| C1866095 | Deafness, Autosomal Dominant 13 | TECTA | 7007 | tectorin alpha | O75443 |
| C1832187 | Deafness, Autosomal Dominant 12 | TECTA | 7007 | tectorin alpha | O75443 |
| C0011053 | Deafness | TMTC2 | 160335 | transmembrane O-mannosyltransferase targeting cadherins 2 | Q8N394 |
| C0011053 | Deafness | OTOG | 340990 | otogelin | Q6ZRI0 |
| C0011053 | Deafness | TECTA | 7007 | tectorin alpha | O75443 |
| C0011053 | Deafness | TALDO1 | 6888 | transaldolase 1 | P37837 |
| C4082305 | Deaf Mutism | TMTC2 | 160335 | transmembrane O-mannosyltransferase targeting cadherins 2 | Q8N394 |
| C1857395 | De Toni-Debre-Fanconi Syndrome | CTNS | 1497 | cystinosin, lysosomal cystine transporter | O60931 |
| C1857395 | De Toni-Debre-Fanconi Syndrome | SLC2A2 | 6514 | solute carrier family 2 member 2 | P11168 |
| C1857395 | De Toni-Debre-Fanconi Syndrome | EHHADH | 1962 | enoyl-CoA hydratase and 3-hydroxyacyl CoA dehydrogenase | Q08426 |
