TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: Nephronophthisis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs202149403
rs202149403
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0687120
Disease:
Nephronophthisis 		C 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095 2011