| Disease ID | Disease name | Source of annotation with COL4A3BP | 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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| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Metabolism of lipids and lipoproteins | R-HSA-556833 | 3.79 |
| Sphingolipid metabolism | R-HSA-428157 | 6.79 |
| Metabolism | R-HSA-1430728 | 2.34 |
| Sphingolipid de novo biosynthesis | R-HSA-1660661 | 7.98 |
| GO term | GO ID | GO IC |
|---|---|---|
| lipid transporter activity | GO:0005319 | 5.03 |
| ceramide transporter activity | GO:0035620 | 9.05 |
| phospholipid binding | GO:0005543 | 3.91 |
| substrate-specific transporter activity | GO:0022892 | 2.72 |
| phosphatidylinositol-4-phosphate binding | GO:0070273 | 6.74 |
| catalytic activity | GO:0003824 | 1.05 |
| phosphatidylinositol binding | GO:0035091 | 4.47 |
| amide binding | GO:0033218 | 4.14 |
| kinase activity | GO:0016301 | 2.93 |
| sphingolipid transporter activity | GO:0046624 | 8.13 |
| lipid binding | GO:0008289 | 3.26 |
| transporter activity | GO:0005215 | 2.57 |
| sphingolipid binding | GO:0046625 | 7.34 |
| phosphotransferase activity, alcohol group as acceptor | GO:0016773 | 3.08 |
| transferase activity | GO:0016740 | 1.95 |
| ceramide binding | GO:0097001 | 8.35 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| phosphatidylinositol phosphate binding | GO:1901981 | 5.05 |
| protein kinase activity | GO:0004672 | 3.27 |
| transferase activity, transferring phosphorus-containing groups | GO:0016772 | 2.77 |