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: rs267607116
rs267607116
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease:
JOUBERT SYNDROME 6 		A 0.700 CausalMutation CLINVAR Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
dbSNP: rs267607116
rs267607116
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C1853153
Disease:
JOUBERT SYNDROME 6 		C 0.700 CausalMutation CLINVAR