rs606231259, CPLANE1

N. diseases: 2
Disease: JOUBERT SYNDROME 17 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
JOUBERT SYNDROME 17
CUI: C3553264
Disease: JOUBERT SYNDROME 17
0.700 CausalMutation CLINVAR Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling. 29321670 2018
JOUBERT SYNDROME 17
CUI: C3553264
Disease: JOUBERT SYNDROME 17
0.700 CausalMutation CLINVAR Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. 28289185 2017
JOUBERT SYNDROME 17
CUI: C3553264
Disease: JOUBERT SYNDROME 17
0.700 CausalMutation CLINVAR Joubert syndrome: genotyping a Northern European patient cohort. 25920555 2016
JOUBERT SYNDROME 17
CUI: C3553264
Disease: JOUBERT SYNDROME 17
0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
JOUBERT SYNDROME 17
CUI: C3553264
Disease: JOUBERT SYNDROME 17
0.700 CausalMutation CLINVAR C5orf42 is the major gene responsible for OFD syndrome type VI. 24178751 2014