TMEM67, transmembrane protein 67, 91147

N. diseases: 215; N. variants: 87
Disease: NEPHRONOPHTHISIS 11 ×
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: C3150796
Disease:
NEPHRONOPHTHISIS 11 		0.800 GeneticVariation UNIPROT Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
dbSNP: rs201893408
rs201893408
Entrez Id: 91147
Gene Symbol: TMEM67
TMEM67
CUI: C3150796
Disease:
NEPHRONOPHTHISIS 11 		C 0.800 CausalMutation CLINVAR