TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Hydrocephalus ×
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: C0020255
Disease:
Hydrocephalus 		A 0.700 CausalMutation CLINVAR Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
dbSNP: rs1554555063
rs1554555063
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0020255
Disease:
Hydrocephalus 		A 0.700 GeneticVariation CLINVAR