Disease ID | Disease name | Source of annotation with CHAMP1 | 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 |
---|---|---|
cation binding | GO:0043169 | 1.4 |
protein binding | GO:0005515 | 0.46 |
organic cyclic compound binding | GO:0097159 | 1.05 |
ion binding | GO:0043167 | 1.36 |
binding | GO:0005488 | 0.18 |
nucleic acid binding | GO:0003676 | 1.44 |
metal ion binding | GO:0046872 | 1.41 |
heterocyclic compound binding | GO:1901363 | 1.06 |