Disease ID | Disease name | Source of annotation with SMS | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS309510 | MENTAL RETARDATION, X-LINKED SYNDROMIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 27 | AP1S2, PRPS1, IGBP1, RBMX, HUWE1, RAB40AL, HSD17B10, ATP6AP2, PHF8, CLIC2, CASK, TAF1, FGD1, CUL4B, PQBP1, ZDHHC9, NONO, UPF3B, SMS, HDAC8, UBE2A, MECP2, KDM5C, ARX, SLC9A6, GRIA3, PHF6 |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Metabolic pathways | hsa01100 | 2.49 |
Cysteine and methionine metabolism | hsa00270 | 7.56 |
Glutathione metabolism | hsa00480 | 6.96 |
Arginine and proline metabolism | hsa00330 | 6.84 |
beta-Alanine metabolism | hsa00410 | 7.72 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Metabolism of amino acids and derivatives | R-HSA-71291 | 5.4 |
Metabolism | R-HSA-1430728 | 2.34 |
Metabolism of polyamines | R-HSA-351202 | 9.08 |
GO term | GO ID | GO IC |
---|---|---|
catalytic activity | GO:0003824 | 1.05 |
transferase activity | GO:0016740 | 1.95 |
spermine synthase activity | GO:0016768 | 9.74 |
transferase activity, transferring alkyl or aryl (other than methyl) groups | GO:0016765 | 5.58 |