Congenital fibrosis of extraocular muscles
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES | TUBA1A | Causal | Orphanet | ||
| TUBB3 | Causal | CTD Orphanet | |||
| COL25A1 | Unknown | Orphanet | |||
| GRHL2 | Unknown | — | GenCC | ||
| KIF21A | Unknown | ClinGen GWAS catalog Orphanet | |||
| PHOX2A | Unknown | GWAS catalog Orphanet | |||
| TUBB2B | Unknown | GenCC Orphanet | |||
| CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES TYPE 1 | KIF21A | Causal | ClinVar GenCC | ||
| CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES | COL25A1 | Unknown | — | Disgenet | |
| CTNNA1 | Unknown | — | Disgenet | ||
| FGF21 | Unknown | — | Disgenet | ||
| GRHL2 | Unknown | — | Disgenet | ||
| HRAS | Unknown | — | Disgenet | ||
| KIF21A | Unknown | — | Disgenet | ||
| LRRC56 | Unknown | — | Disgenet | ||
| MCM3AP | Unknown | — | Disgenet | ||
| MYH10 | Unknown | — | Disgenet | ||
| NES | Unknown | — | Disgenet | ||
| PHOX2A | Unknown | — | Disgenet | ||
| TUBA1A | Unknown | — | Disgenet | ||
| TUBA1B | Unknown | — | Disgenet | ||
| TUBB | Unknown | — | Disgenet | ||
| TUBB2B | Unknown | — | Disgenet | ||
| TUBB3 | Unknown | — | Disgenet | ||
| CONGENITAL FIBROSIS OF THE EXTRAOCULAR MUSCLES 1B |
|
TUBB3 | Unknown | — | ClinVar |