Congenital fibrosis of extraocular muscles

Disease Term Disease ID Gene Symbol Classification References Source
Congenital fibrosis of extraocular muscles 45358 KIF21A Causal Pathogenic evidence from ClinVar - ClinVar
PHOX2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TUBB2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TUBB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital Fibrosis of the Extraocular Muscles C1302995 KIF21A Causal Pathogenic evidence from ClinVar 18332320 ClinVar
PHOX2A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TUBB2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23001566 -
TUBB3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20074521 -
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3B (disorder) C2751105 KIF21A Causal Pathogenic evidence from ClinVar - ClinVar