Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.600 GeneticVariation disease UNIPROT Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. 26077881 2015
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.600 GeneticVariation disease UNIPROT DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. 26130459 2015
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. 26077881 2015
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4310724
Disease: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY 		0.600 CausalMutation disease CLINVAR