Disease: Jeune thoracic dystrophy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Jeune thoracic dystrophy
CUI: C0265275
Disease: Jeune thoracic dystrophy
0.700 CausalMutation CLINVAR A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS. 24876116 2014
Jeune thoracic dystrophy
CUI: C0265275
Disease: Jeune thoracic dystrophy
0.700 CausalMutation CLINVAR TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341 2011