Disease ID | Disease name | Source of annotation with CDH15 | 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 |
---|---|---|
Cell adhesion molecules (CAMs) | hsa04514 | 5.36 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Cell-cell junction organization | R-HSA-421270 | 7.03 |
Cell junction organization | R-HSA-446728 | 6.51 |
Cell-Cell communication | R-HSA-1500931 | 5.87 |
CDO in myogenesis | R-HSA-375170 | 8.12 |
Adherens junctions interactions | R-HSA-418990 | 7.98 |
Myogenesis | R-HSA-525793 | 8.12 |
Developmental Biology | R-HSA-1266738 | 3.48 |
GO term | GO ID | GO IC |
---|---|---|
cation binding | GO:0043169 | 1.4 |
ion binding | GO:0043167 | 1.36 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
metal ion binding | GO:0046872 | 1.41 |
calcium ion binding | GO:0005509 | 3.17 |