Disease: EPISODIC PAIN SYNDROME, FAMILIAL, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3808667
Disease: EPISODIC PAIN SYNDROME, FAMILIAL, 1
EPISODIC PAIN SYNDROME, FAMILIAL, 1 		0.600 Biomarker disease GENOMICS_ENGLAND A novel TRPA1 variant is associated with carbamazepine-responsive cramp-fasciculation syndrome. 28436534 2018
CUI: C3808667
Disease: EPISODIC PAIN SYNDROME, FAMILIAL, 1
EPISODIC PAIN SYNDROME, FAMILIAL, 1 		0.600 Biomarker disease GENOMICS_ENGLAND Transient receptor potential channel polymorphisms are associated with the somatosensory function in neuropathic pain patients. 21468319 2011
CUI: C3808667
Disease: EPISODIC PAIN SYNDROME, FAMILIAL, 1
EPISODIC PAIN SYNDROME, FAMILIAL, 1 		0.600 GeneticVariation disease UNIPROT A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome. 20547126 2010
CUI: C3808667
Disease: EPISODIC PAIN SYNDROME, FAMILIAL, 1
EPISODIC PAIN SYNDROME, FAMILIAL, 1 		0.600 GermlineCausalMutation disease ORPHANET A gain-of-function mutation in TRPA1 causes familial episodic pain syndrome. 20547126 2010
CUI: C3808667
Disease: EPISODIC PAIN SYNDROME, FAMILIAL, 1
EPISODIC PAIN SYNDROME, FAMILIAL, 1 		0.600 Biomarker disease CTD_human
CUI: C3808667
Disease: EPISODIC PAIN SYNDROME, FAMILIAL, 1
EPISODIC PAIN SYNDROME, FAMILIAL, 1 		0.600 Biomarker disease GENOMICS_ENGLAND