rs201948500, DYNC2LI1

N. diseases: 4
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
0.800 GeneticVariation UNIPROT Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. 26077881 2015
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
0.800 GeneticVariation UNIPROT DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. 26130459 2015
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
0.800 CausalMutation CLINVAR