CCDC39, coiled-coil domain containing 39, 339829

N. diseases: 56; N. variants: 49
Disease: Hydrocephalus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.310 GeneticVariation disease BEFREE Through whole-genome sequencing analysis, we report that a homozygous splice site mutation in coiled-coil domain containing 39 (<i>Ccdc39</i>) is responsible for early postnatal hydrocephalus in the <i>progressive hydrocephal</i><i>us</i> (<i>prh</i>) mouse mutant. 29317443 2018
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.310 Biomarker disease MGD Through whole-genome sequencing analysis, we report that a homozygous splice site mutation in coiled-coil domain containing 39 (<i>Ccdc39</i>) is responsible for early postnatal hydrocephalus in the <i>progressive hydrocephal</i><i>us</i> (<i>prh</i>) mouse mutant. 29317443 2018
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.310 Biomarker disease MGD Focusing forward genetics: a tripartite ENU screen for neurodevelopmental mutations in the mouse. 21515572 2011
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		0.310 Biomarker disease HPO