Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554397834
rs1554397834
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C2673257
Disease:
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		A 0.700 GeneticVariation CLINVAR Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene. 22693283 2012