rs1554692181, ELP1

N. diseases: 1
Disease: Dysautonomia, Familial ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dysautonomia, Familial
CUI: C0013364
Disease: Dysautonomia, Familial
0.700 GeneticVariation CLINVAR Familial dysautonomia is caused by mutations of the IKAP gene. 11179021 2001