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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 |
|---|---|---|---|---|---|
| C1862389 | ATRIAL SEPTAL DEFECT 1 | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | CAT | 847 | catalase | P04040 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | ARSD | 414 | arylsulfatase D | P51689 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C1862389 | ATRIAL SEPTAL DEFECT 1 | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1862596 | Familial hypobetalipoproteinemia | EFNA5 | 1946 | ephrin A5 | P52803 |
| C1862596 | Familial hypobetalipoproteinemia | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
| C1862839 | Anterior segment mesenchymal dysgenesis | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | ALG1 | 56052 | ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase | Q9BT22 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | SARM1 | 23098 | sterile alpha and TIR motif containing 1 | Q6SZW1 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | OTOG | 340990 | otogelin | Q6ZRI0 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | FIG4 | 9896 | FIG4 phosphoinositide 5-phosphatase | Q92562 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | CAT | 847 | catalase | P04040 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | INPP4B | 8821 | inositol polyphosphate-4-phosphatase type II B | O15327 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | ACACA | 31 | acetyl-CoA carboxylase alpha | Q13085 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | OPCML | 4978 | opioid binding protein/cell adhesion molecule like | Q14982 |
| C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | MASP1 | 5648 | mannan binding lectin serine peptidase 1 | P48740 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C1862941 | Amyotrophic Lateral Sclerosis, Sporadic | SARM1 | 23098 | sterile alpha and TIR motif containing 1 | Q6SZW1 |
