DYNC2H1, dynein cytoplasmic 2 heavy chain 1, 79659

N. diseases: 136; N. variants: 159
Disease: Short ribs ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 GeneticVariation phenotype CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 Biomarker phenotype HPO
CUI: C0426817
Disease: Short ribs
Short ribs 		0.100 CausalMutation phenotype CLINVAR