rs886037751, CFAP53

N. diseases: 2
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HETEROTAXY, VISCERAL, 6, AUTOSOMAL
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
0.700 GeneticVariation UNIPROT A Zebrafish Loss-of-Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function. 26531781 2016
HETEROTAXY, VISCERAL, 6, AUTOSOMAL
CUI: C3553676
Disease: HETEROTAXY, VISCERAL, 6, AUTOSOMAL
0.700 GeneticVariation UNIPROT A human laterality disorder associated with recessive CCDC11 mutation. 22577226 2012