rs1249050389, PTCH1

N. diseases: 2
Disease: Polycystic Kidney, Autosomal Dominant ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polycystic Kidney, Autosomal Dominant
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
0.010 GeneticVariation BEFREE The effect of HH pathway hyperactivation (due to c.573C>G mutation on PTCH1 gene that cause NBCCS) on renal ADPKD progression in the proband was compared to 18 age- and sex-matched ADPKD patients in a 9-year, prospective, follow-up study. 30368514 2018