Disease ID | Disease name | Source of annotation with AUTS2 | 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 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
chromatin binding | GO:0003682 | 3.64 |
macromolecular complex binding | GO:0044877 | 2.61 |
binding | GO:0005488 | 0.18 |