Disease Term Disease ID Gene Symbol Classification References Source
EPISODIC PAIN SYNDROME, FAMILIAL, 3 C3809899 SCN11A Causal Pathogenic evidence from ClinVar 24036948, 24207120, 24776970, 24813307, 25791876, 27224030, 28298626 ClinVar
Familial episodic pain syndrome with predominantly lower limb involvement 391392 SCN11A Causal Pathogenic evidence from ClinVar - ClinVar
EPISODIC PAIN SYNDROME, FAMILIAL, 1 C3808667 TRPA1 Causal Pathogenic evidence from ClinVar 20547126, 21468319, 28436534 ClinVar
Familial episodic pain syndrome with predominantly upper body involvement 391389 TRPA1 Causal Pathogenic evidence from ClinVar - ClinVar
EPISODIC PAIN SYNDROME, FAMILIAL, 2 C3809893 SCN10A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 16301704, 23115331, 25250524, 25316021, 27761167 -