DYNC2H1, dynein cytoplasmic 2 heavy chain 1, 79659

N. diseases: 136; N. variants: 159
Disease: Polydactyly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.430 Biomarker disease GENOMICS_ENGLAND Prenatal diagnosis of short-rib polydactyly syndrome type III or short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) associated with compound heterozygous mutations in DYNC2H1 in a fetus. 29458881 2018
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.430 GeneticVariation disease BEFREE A proof-of-principle study detected heterozygous DYNC2H1 variants in a couple whose five fetuses had short-rib polydactyly. 24961629 2015
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.430 GeneticVariation disease BEFREE Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement. 23456818 2013
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.430 Biomarker disease BEFREE NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases. 22499340 2012
CUI: C0152427
Disease: Polydactyly
Polydactyly 		0.430 CausalMutation disease CLINVAR