rs267607116, TMEM67

N. diseases: 8
Disease: NEPHRONOPHTHISIS 11 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
NEPHRONOPHTHISIS 11
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
0.800 GeneticVariation UNIPROT Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 19508969 2009
NEPHRONOPHTHISIS 11
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
0.800 CausalMutation CLINVAR
NEPHRONOPHTHISIS 11
CUI: C3150796
Disease: NEPHRONOPHTHISIS 11
0.800 CausalMutation CLINVAR