Kleefstra syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| KLEEFSTRA SYNDROME | EHMT1 | Causal | CTD, ClinGen, Disgenet, GWAS catalog | |||
| KMT2C | Unknown | — | Disgenet | |||
| KLEEFSTRA SYNDROME 1 | ABCC9 | Causal | — | Disgenet | ||
| EHMT1 | Causal | — | ClinVar, Disgenet, GenCC, HPO | |||
| KMT2C | Causal | — | Disgenet | |||
| NR1I3 | Unknown | — | Disgenet | |||
| PAEP | Unknown | — | Disgenet | — | ||
| KLEEFSTRA SYNDROME 2 | KMT2C | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION | EHMT1 | Unknown | Orphanet | |||
| KLEEFSTRA SYNDROME DUE TO A POINT MUTATION | KMT2C | Causal | Disgenet, Orphanet | |||
| EHMT1 | Unknown | Disgenet, Orphanet, ClinGen |