Rett syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| ATYPICAL RETT SYNDROME | CDKL5 | Causal | GWAS catalog Orphanet | ||
| MECP2 | Causal | CTD Orphanet | |||
| GABBR2 | Unknown | GWAS catalog Orphanet | |||
| NTNG1 | Unknown | GWAS catalog Orphanet | |||
| PDLIM7 | Unknown | — | GenCC | ||
| SMC1A | Unknown | GWAS catalog Orphanet | |||
| STXBP1 | Unknown | GWAS catalog | |||
| RETT SYNDROME | CDKL5 | Causal | CTD Disgenet | ||
| DOK7 | Causal | — | Disgenet | ||
| FOXG1 | Causal | — | Disgenet | ||
| MECP2 | Causal | CTD ClinGen ClinVar Disgenet GenCC HPO Orphanet | |||
| RHOBTB2 | Causal | — | Disgenet | ||
| EGR2 | Unknown | CTD Disgenet | |||
| GABBR2 | Unknown | — | Disgenet | ||
| MAP2 | Unknown | — | Disgenet | ||
| PTPN1 | Unknown | CTD Disgenet | |||
| RETT SYNDROME, ATYPICAL | CDKL5 | Unknown | — | Disgenet | |
| GABBR2 | Unknown | — | Disgenet | ||
| GPHN | Unknown | — | Disgenet | ||
| MECP2 | Unknown | — | Disgenet | ||
| NTNG1 | Unknown | — | Disgenet | ||
| PALS1 | Unknown | — | Disgenet | ||
| PDLIM7 | Unknown | — | Disgenet | ||
| RS1 | Unknown | — | Disgenet | ||
| SMC1A | Unknown | — | Disgenet | ||
| STXBP1 | Unknown | — | Disgenet | ||
| RETT SYNDROME, CONGENITAL VARIANT | FOXG1 | Unknown | — | CTD ClinVar GenCC HPO | |
| RETT SYNDROME, ZAPPELLA VARIANT | MECP2 | Causal | — | Disgenet |