Disease ID | Disease name | Source of annotation with PYCR1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
614438 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIB | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PYCR1 |
612940 | CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | PYCR1 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Biosynthesis of amino acids | hsa01230 | 6.58 |
Metabolic pathways | hsa01100 | 2.49 |
Arginine and proline metabolism | hsa00330 | 6.84 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 |
Metabolism | R-HSA-1430728 | 2.34 |
Amino acid synthesis and interconversion (transamination) | R-HSA-70614 | 8.89 |
GO term | GO ID | GO IC |
---|---|---|
oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor | GO:0016646 | 6.79 |
oxidoreductase activity, acting on the CH-NH group of donors | GO:0016645 | 6.41 |
pyrroline-5-carboxylate reductase activity | GO:0004735 | 8.13 |
catalytic activity | GO:0003824 | 1.05 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
identical protein binding | GO:0042802 | 2.63 |
oxidoreductase activity | GO:0016491 | 3.12 |