rs387906643, KIF11

N. diseases: 1
Disease: Lymphedema, microcephaly and chorioretinopathy syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lymphedema, microcephaly and chorioretinopathy syndrome
CUI: C1835265
Disease: Lymphedema, microcephaly and chorioretinopathy syndrome
0.800 GeneticVariation UNIPROT Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. 22284827 2012
Lymphedema, microcephaly and chorioretinopathy syndrome
CUI: C1835265
Disease: Lymphedema, microcephaly and chorioretinopathy syndrome
0.800 CausalMutation CLINVAR