Disease ID | Disease name | Source of annotation with EPB41L1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS156200 | MENTAL RETARDATION, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | 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 |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Tight junction | hsa04530 | 5.53 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Neuronal System | R-HSA-112316 | 4.82 |
Glutamate Binding, Activation of AMPA Receptors and Synaptic Plasticity | R-HSA-399721 | 8.08 |
Trafficking of AMPA receptors | R-HSA-399719 | 8.08 |
Transmission across Chemical Synapses | R-HSA-112315 | 5.28 |
Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell | R-HSA-112314 | 5.85 |
GO term | GO ID | GO IC |
---|---|---|
actin binding | GO:0003779 | 3.74 |
structural molecule activity | GO:0005198 | 3.1 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
cytoskeletal protein binding | GO:0008092 | 3.02 |