rs368631447, DYNC2H1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Saldino-Noonan Syndrome
CUI: C0036069
Disease: Saldino-Noonan Syndrome
0.800 GeneticVariation UNIPROT Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. 23456818 2013
Saldino-Noonan Syndrome
CUI: C0036069
Disease: Saldino-Noonan Syndrome
0.800 GeneticVariation UNIPROT NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 22499340 2012
Saldino-Noonan Syndrome
CUI: C0036069
Disease: Saldino-Noonan Syndrome
0.800 GeneticVariation UNIPROT DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. 19442771 2009
Saldino-Noonan Syndrome
CUI: C0036069
Disease: Saldino-Noonan Syndrome
0.800 GeneticVariation UNIPROT Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. 19361615 2009
Saldino-Noonan Syndrome
CUI: C0036069
Disease: Saldino-Noonan Syndrome
0.800 CausalMutation CLINVAR
Jeune thoracic dystrophy
CUI: C0265275
Disease: Jeune thoracic dystrophy
0.700 GeneticVariation CLINVAR