Amelogenesis imperfecta
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| AMELOGENESIS IMPERFECTA | AMELX | Causal | — | Disgenet | |
| COL17A1 | Causal | — | Disgenet GenCC | ||
| DLX3 | Causal | — | Disgenet | ||
| ENAM | Causal | CTD Disgenet | |||
| GPR68 | Causal | — | Disgenet | ||
| KLK4 | Causal | — | Disgenet | ||
| LAMB3 | Causal | — | Disgenet | ||
| LTBP3 | Causal | CTD Disgenet | |||
| RELT | Causal | — | Disgenet | ||
| SLC24A4 | Causal | — | Disgenet | ||
| SP6 | Causal | — | Disgenet | ||
| WDR72 | Causal | ClinGen Disgenet GWAS catalog | |||
| ACP4 | Unknown | — | Disgenet | ||
| AMBN | Unknown | — | Disgenet | ||
| ARHGAP6 | Unknown | — | Disgenet | ||
| FAM20A | Unknown | — | Disgenet | ||
| FAM20C | Unknown | — | Disgenet | ||
| FAM83H | Unknown | CTD Disgenet | |||
| ITGB6 | Unknown | — | Disgenet | ||
| MMP20 | Unknown | — | Disgenet | ||
| ODAPH | Unknown | — | Disgenet | ||
| AMELOGENESIS IMPERFECTA - HYPOPLASTIC AUTOSOMAL DOMINANT - LOCAL |
|
ENAM | Causal | — | ClinVar |
| AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE | AMELX | Unknown | — | Disgenet | |
| GPR68 | Unknown | — | Disgenet | ||
| KLK4 | Unknown | — | Disgenet | ||
| MMP20 | Unknown | — | Disgenet | ||
| ODAPH | Unknown | — | Disgenet | ||
| SLC24A4 | Unknown | — | Disgenet | ||
| WDR72 | Unknown | — | Disgenet | ||
| AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE 2A2 | MMP20 | Causal | ClinVar Disgenet | ||
| AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE 2A3 | WDR72 | Causal | ClinVar GWAS catalog | ||
| AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE 2A4 | ODAPH | Causal | ClinVar GWAS catalog | ||
| AMELOGENESIS IMPERFECTA HYPOMATURATION TYPE 2A5 | SLC24A4 | Causal | CTD ClinVar | ||
| AMELOGENESIS IMPERFECTA LOCAL HYPOPLASTIC FORM | ACP4 | Unknown | — | Disgenet | |
| AMBN | Unknown | — | Disgenet | ||
| COL7A1 | Unknown | — | Disgenet | ||
| ENAM | Unknown | — | Disgenet | ||
| ITGB6 | Unknown | — | Disgenet | ||
| LAMB3 | Unknown | — | CTD Disgenet | ||
| LAMC2 | Unknown | — | Disgenet | ||
| RELT | Unknown | — | Disgenet | ||
| SP6 | Unknown | — | Disgenet | ||
| AMELOGENESIS IMPERFECTA NEPHROCALCINOSIS | FAM20A | Unknown | — | Disgenet | |
| PRKAR1A | Unknown | — | Disgenet | ||
| AMELOGENESIS IMPERFECTA PIGMENTED HYPOMATURATION TYPE | KLK4 | Unknown | — | CTD | |
| AMELOGENESIS IMPERFECTA TYPE 1 | ACP4 | Unknown | Disgenet | ||
| AMBN | Unknown | GWAS catalog | |||
| ENAM | Unknown | Disgenet | |||
| ITGB6 | Unknown | Disgenet | |||
| LAMB3 | Unknown | Disgenet |