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: rs201893408
rs201893408
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
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
dbSNP: rs267607116
rs267607116
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0687120
Disease:
Nephronophthisis 		A 0.700 CausalMutation CLINVAR When examining a worldwide cohort of 62 independent patients with NPHP and associated liver fibrosis we identified altogether four novel mutations (p.W290L, p.C615R, p.G821S, and p.G821R) in five of them. 19508969 2009
dbSNP: rs1554555063
rs1554555063
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C0687120
Disease:
Nephronophthisis 		A 0.700 GeneticVariation CLINVAR