TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: JOUBERT SYNDROME 6 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775256658
rs775256658
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease:
JOUBERT SYNDROME 6 		G 0.700 CausalMutation CLINVAR Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. 26092869 2015