Disease ID | Disease name | Source of annotation with IQSEC2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS309530 | MENTAL RETARDATION, NONSYNDROMIC, X-LINKED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 25 | THOC2, HCFC1, RPS6KA3, USP9X, MID2, RAB39B, KIAA2022, ZNF81, PAK3, IQSEC2, DLG3, TSPAN7, ZDHHC15, ZNF711, KIF4A, ACSL4, BRWD3, IL1RAPL1, GDI1, SYP, ARHGEF6, ARX, DDX3X, GRIA3, FTSJ1 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Endocytosis | hsa04144 | 4.92 |
GO term | GO ID | GO IC |
---|---|---|
molecular function regulator | GO:0098772 | 2.51 |
guanyl-nucleotide exchange factor activity | GO:0005085 | 4.02 |
ARF guanyl-nucleotide exchange factor activity | GO:0005086 | 6.52 |