Disease ID | Disease name | Source of annotation with PQBP1 | 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 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Spliceosome | hsa03040 | 5.73 |
GO term | GO ID | GO IC |
---|---|---|
protein C-terminus binding | GO:0008022 | 4.5 |
transcription factor activity, transcription factor binding | GO:0000989 | 3.36 |
protein binding | GO:0005515 | 0.46 |
organic cyclic compound binding | GO:0097159 | 1.05 |
DNA binding | GO:0003677 | 1.92 |
transcription coactivator activity | GO:0003713 | 4.04 |
transcription cofactor activity | GO:0003712 | 3.44 |
macromolecular complex binding | GO:0044877 | 2.61 |
binding | GO:0005488 | 0.18 |
nucleic acid binding | GO:0003676 | 1.44 |
transcription factor activity, protein binding | GO:0000988 | 3.35 |
ribonucleoprotein complex binding | GO:0043021 | 5.15 |
heterocyclic compound binding | GO:1901363 | 1.06 |