EXOC6B, exocyst complex component 6B, 23233

N. diseases: 63; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432243
Disease: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Spondyloepimetaphyseal Dysplasia With Joint Laxity 		0.300 GermlineCausalMutation disease ORPHANET Confirmation of spondylo-epi-metaphyseal dysplasia with joint laxity, EXOC6B type. 30284759 2018
CUI: C0432243
Disease: Spondyloepimetaphyseal Dysplasia With Joint Laxity
Spondyloepimetaphyseal Dysplasia With Joint Laxity 		0.300 GermlineCausalMutation disease ORPHANET A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. 26669664 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 GeneticVariation disease CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 Biomarker disease BEFREE This is the first report of a de novo deletion affecting only EXOC6B in an individual with developmental delay. 25256811 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 GeneticVariation disease CLINVAR Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 Biomarker disease BEFREE Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation. 23422942 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 Biomarker disease HPO
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease CLINVAR A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. 26669664 2016
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.110 GeneticVariation disease BEFREE We describe a boy with developmental delay, speech delay, and minor dysmorphic features with a heterozygous de novo ∼460 kb deletion at 2p13.2 involving only parts of EXOC6B present in about 50% of lymphocytes. 25256811 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group BEFREE In conclusion, based on our findings and recent data from the literature, there is evidence that EXOC6B and the exocyst complex might play an important role in the molecular pathogenesis of intellectual disability. 25256811 2014
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Characterizing rare and low-frequency height-associated variants in the Japanese population. 31562340 2019
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 GeneticVariation group CLINVAR A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene. 26669664 2016
CUI: C0013595
Disease: Eczema
Eczema 		0.100 GeneticVariation disease CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
CUI: C0027092
Disease: Myopia
Myopia 		0.100 GeneticVariation disease CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 GeneticVariation disease CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
CUI: C0029453
Disease: Osteopenia
Osteopenia 		0.100 GeneticVariation disease CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
CUI: C0036572
Disease: Seizures
Seizures 		0.100 GeneticVariation phenotype CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
CUI: C0040485
Disease: Torticollis
Torticollis 		0.100 GeneticVariation phenotype CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		0.100 GeneticVariation disease CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation phenotype CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 GeneticVariation phenotype CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
CUI: C0521525
Disease: Short neck
Short neck 		0.100 GeneticVariation phenotype CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		0.100 GeneticVariation phenotype CLINVAR Mosaic deletion of EXOC6B: further evidence for an important role of the exocyst complex in the pathogenesis of intellectual disability. 25256811 2014