Disease Term Disease ID Gene Symbol Classification References Source
PARAMYOTONIA CONGENITA RANBP2 Unknown Disgenet
SCN4A Unknown HPO
PARAMYOTONIA CONGENITA OF VON EULENBURG SCN4A Causal ClinVar GWAS catalog Orphanet
PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA SCN4A Causal Disgenet