Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777065
rs587777065
WDR60
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		0.800 GeneticVariation UNIPROT Whole exome sequencing is an efficient, sensitive and specific method for determining the genetic cause of short-rib thoracic dystrophies. 25492405

2015
dbSNP: rs587777065
rs587777065
WDR60
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		0.800 GeneticVariation UNIPROT Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60. 23910462

2013
dbSNP: rs587777065
rs587777065
WDR60
CUI: C3809691
Disease: SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY 		T 0.800 CausalMutation CLINVAR