rs1554555063, TMEM67

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
JOUBERT SYNDROME 6
CUI: C1853153
Disease: JOUBERT SYNDROME 6
0.700 GeneticVariation CLINVAR
Nephronophthisis
CUI: C0687120
Disease: Nephronophthisis
0.700 GeneticVariation CLINVAR
Cerebellar vermis hypoplasia
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
0.700 GeneticVariation CLINVAR
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
0.700 GeneticVariation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 GeneticVariation CLINVAR
Hydrocephalus
CUI: C0020255
Disease: Hydrocephalus
0.700 GeneticVariation CLINVAR
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
0.700 GeneticVariation CLINVAR