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
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 CausalMutation disease CLINVAR
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.310 GeneticVariation disease BEFREE Our findings indicate that DYNC2LI1 mutations are associated with a wider clinical spectrum than previously appreciated, including EvC, with the severity of the phenotype likely depending on the extent of defective DYNC2LI1 function. 28857138 2018
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		0.310 GermlineCausalMutation disease ORPHANET DYNC2LI1 mutations broaden the clinical spectrum of dynein-2 defects. 26130459 2015
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		0.310 GeneticVariation disease BEFREE The findings in this study expand our understanding of SRPS locus heterogeneity and demonstrate the importance of DYNC2LI1 in dynein-2 complex stability, cilium function, Hedgehog regulation and skeletogenesis. 26077881 2015
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome 		0.310 Biomarker disease CTD_human
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.300 GermlineCausalMutation disease ORPHANET Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. 26077881 2015
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome 		0.300 Biomarker disease CTD_human
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		0.100 GeneticVariation disease GWASDB Genome-wide association database developed in the Japanese Integrated Database Project. 19629137 2009
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013990
Disease: Pathological accumulation of air in tissues
Pathological accumulation of air in tissues 		0.100 Biomarker phenotype HPO
CUI: C0014588
Disease: Epispadias
Epispadias 		0.100 Biomarker group HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0018552
Disease: Hamartoma
Hamartoma 		0.100 Biomarker disease HPO