DDRGK1, DDRGK domain containing 1, 65992

N. diseases: 49; N. variants: 2
Disease: Spondyloepimetaphyseal Dysplasia, Shohat Type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865185
Disease: Spondyloepimetaphyseal Dysplasia, Shohat Type
Spondyloepimetaphyseal Dysplasia, Shohat Type 		0.410 GeneticVariation disease BEFREE Here, we have performed whole-exome sequencing to identify a recurrent homozygous c.408+1G>A donor splice site loss-of-function mutation in DDRGK domain containing 1 (DDRGK1) in 4 families affected by SEMD. 28263186 2017
CUI: C1865185
Disease: Spondyloepimetaphyseal Dysplasia, Shohat Type
Spondyloepimetaphyseal Dysplasia, Shohat Type 		0.410 GermlineCausalMutation disease ORPHANET Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia. 28263186 2017
CUI: C1865185
Disease: Spondyloepimetaphyseal Dysplasia, Shohat Type
Spondyloepimetaphyseal Dysplasia, Shohat Type 		0.410 CausalMutation disease CLINVAR