Disease ID | Disease name | Source of annotation with ARID1A | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS156200 | MENTAL RETARDATION, AUTOSOMAL DOMINANT | ClinVar, OMIM | link to OMIM | 44 | EHMT1, KANSL1, AHDC1, SOX11, CDH15, KIRREL3, EEF1A2, KAT6A, ZMYND11, ARID1A, KMT2C, PPP2R5D, DYNC1H1, GRIN1, CTCF, SETD5, AUTS2, PACS1, DPP6, MBD5, DEAF1, KIF1A, SYNGAP1, PURA, POGZ, EPB41L1, PPP2R1A, NR1I3, CTNNB1, ARID1B, MYT1L, CACNG2, COL4A3BP, SMARCB1, MEF2C, SMARCE1, SMARCA4, ZBTB18, ADNP, GATAD2B, SETBP1, GRIN2B, CHAMP1, DYRK1A |
PS135900 | COFFIN-SIRIS SYNDROME | ClinVar, OMIM | link to OMIM | 5 | SMARCE1, SMARCB1, ARID1B, SMARCA4, ARID1A |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
RMTs methylate histone arginines | R-HSA-3214858 | 7.49 |
Chromatin organization | R-HSA-4839726 | 5.19 |
Chromatin modifying enzymes | R-HSA-3247509 | 5.19 |
GO term | GO ID | GO IC |
---|---|---|
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 |
nucleosome binding | GO:0031491 | 5.95 |
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 |
protein complex binding | GO:0032403 | 3.09 |
receptor binding | GO:0005102 | 2.43 |
chromatin binding | GO:0003682 | 3.64 |
ligand-dependent nuclear receptor binding | GO:0016922 | 6.6 |
heterocyclic compound binding | GO:1901363 | 1.06 |