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 |
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DisGeNET | July 29, 2024 |
Disease ID ▼ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
---|---|---|---|---|---|
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 |
C1862839 | Anterior segment mesenchymal dysgenesis | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
C1862596 | Familial hypobetalipoproteinemia | EFNA5 | 1946 | ephrin A5 | P52803 |
C1862596 | Familial hypobetalipoproteinemia | PLA2G7 | 7941 | phospholipase A2 group VII | Q13093 |
C1862389 | ATRIAL SEPTAL DEFECT 1 | B3GLCT | 145173 | beta 3-glucosyltransferase | Q6Y288 |
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 |
C1862382 | SVEINSSON CHORIORETINAL ATROPHY | IDS | 3423 | iduronate 2-sulfatase | P22304 |
C1862382 | SVEINSSON CHORIORETINAL ATROPHY | ENO2 | 2026 | enolase 2 | P09104 |
C1862382 | SVEINSSON CHORIORETINAL ATROPHY | IGF2R | 3482 | insulin like growth factor 2 receptor | P11717 |
C1862382 | SVEINSSON CHORIORETINAL ATROPHY | RPE | 6120 | ribulose-5-phosphate-3-epimerase | Q96AT9 |
C1862382 | SVEINSSON CHORIORETINAL ATROPHY | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
C1862382 | SVEINSSON CHORIORETINAL ATROPHY | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
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Last updated: August 19, 2024