Loss of Function of KMT2D in Kabuki Syndrome
Pathways in the Loss of Function of KMT2D in Kabuki Syndrome SuperPath
| # | Name | Source | Genes |
|---|---|---|---|
| 1 | Loss of Function of KMT2D in Kabuki Syndrome | Reactome | |
| 2 | Loss of Function of KMT2D in MLL4 Complex Formation in Kabuki Syndrome | Reactome |
Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways
| # | Symbol | Description | Category | # Related Pathways |
|---|---|---|---|---|
| 1 | WDR5 | WD Repeat Domain 5 | Protein Coding | 2 |
| 2 | RBBP5 | RB Binding Protein 5, Histone Lysine Methyltransferase Complex Subunit | Protein Coding | 2 |
| 3 | KMT2D | Lysine Methyltransferase 2D | Protein Coding | 2 |
| 4 | DPY30 | Dpy-30 Histone Methyltransferase Complex Regulatory Subunit | Protein Coding | 2 |
| 5 | ASH2L | ASH2 Like, Histone Lysine Methyltransferase Complex Subunit | Protein Coding | 2 |
Disorders associated with Loss of Function of KMT2D in Kabuki Syndrome SuperPath
according to GeneCards Suite gene sharing
| # | Disorder | Type | Genes | Score |
|---|---|---|---|---|
| 1 | Kabuki syndrome 1 | Direct |
