rs587783013, AHI1

N. diseases: 2
Disease: JOUBERT SYNDROME 3 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
JOUBERT SYNDROME 3
CUI: C1837713
Disease: JOUBERT SYNDROME 3
0.700 GeneticVariation CLINVAR Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa. 28442542 2017
JOUBERT SYNDROME 3
CUI: C1837713
Disease: JOUBERT SYNDROME 3
0.700 GeneticVariation CLINVAR Neuroimaging findings in Joubert syndrome with C5orf42 gene mutations: A milder form of molar tooth sign and vermian hypoplasia. 28431631 2017
JOUBERT SYNDROME 3
CUI: C1837713
Disease: JOUBERT SYNDROME 3
0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
JOUBERT SYNDROME 3
CUI: C1837713
Disease: JOUBERT SYNDROME 3
0.700 GeneticVariation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015
JOUBERT SYNDROME 3
CUI: C1837713
Disease: JOUBERT SYNDROME 3
0.700 GeneticVariation CLINVAR Diagnostic application of an extensive gene panel for Leber congenital amaurosis with severe genetic heterogeneity. 25445212 2015