rs750176716, FKTN

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Walker-Warburg congenital muscular dystrophy
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
0.700 CausalMutation CLINVAR Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. 27065010 2016
Walker-Warburg congenital muscular dystrophy
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
0.700 CausalMutation CLINVAR Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. 19266496 2009
Walker-Warburg congenital muscular dystrophy
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
0.700 CausalMutation CLINVAR Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. 18177472 2008
Walker-Warburg congenital muscular dystrophy
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
0.700 CausalMutation CLINVAR Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. 18752264 2008
Walker-Warburg congenital muscular dystrophy
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
0.700 CausalMutation CLINVAR Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. 17878207 2007
Fukuyama Type Congenital Muscular Dystrophy
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
0.700 GeneticVariation CLINVAR