EFHC1, EF-hand domain containing 1, 114327

N. diseases: 52; N. variants: 37
Disease: Absence Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.310 GeneticVariation disease BEFREE Our latest studies, as well as those by Whitehouse et al., show that not all families with JME have their genetic locus in chromosome 6p, and that childhood absence epilepsy does not map to the same EJM1 locus. 8293722 1994
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		0.310 Biomarker disease CTD_human