Disease ID | Disease name | Source of annotation with ALAS2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
300752 | PROTOPORPHYRIA, ERYTHROPOIETIC, X-LINKED | ClinVar, OMIM | link to OMIM | 1 | ALAS2 |
PS300751 | ANEMIA, SIDEROBLASTIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | GLRX5, ALAS2, SLC25A38, HSPA9 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Glycine, serine and threonine metabolism | hsa00260 | 7.45 |
Porphyrin and chlorophyll metabolism | hsa00860 | 7.41 |
Metabolic pathways | hsa01100 | 2.49 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Heme biosynthesis | R-HSA-189451 | 9.52 |
Metabolism | R-HSA-1430728 | 2.34 |
Metabolism of porphyrins | R-HSA-189445 | 8.89 |
GO term | GO ID | GO IC |
---|---|---|
anion binding | GO:0043168 | 4.17 |
coenzyme binding | GO:0050662 | 4.53 |
GO:0016749 | 9.05 | |
N-acyltransferase activity | GO:0016410 | 5.08 |
carboxylic acid binding | GO:0031406 | 4.64 |
transferase activity, transferring acyl groups other than amino-acyl groups | GO:0016747 | 4.37 |
ion binding | GO:0043167 | 1.36 |
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
cofactor binding | GO:0048037 | 4.16 |
pyridoxal phosphate binding | GO:0030170 | 5.83 |
protein binding | GO:0005515 | 0.46 |
transferase activity, transferring acyl groups | GO:0016746 | 4.2 |
GO:0003870 | 9.05 | |
glycine binding | GO:0016594 | 7.1 |
amino acid binding | GO:0016597 | 5.71 |
GO:0016748 | 8.64 | |
binding | GO:0005488 | 0.18 |