Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.120 None 1.000 2 1 2013 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease 0.110 None 1.000 1 1 2014 2016
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0013595
Disease: Eczema
Eczema
disease 0.100 None 1.000 2 1 2013 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
disease 0.100 None 1.000 2 1 2013 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0521525
Disease: Short neck
Short neck
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0349588
Disease: Short stature
Short stature
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata
disease 0.100 None 1.000 2 1 2013 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0040485
Disease: Torticollis
Torticollis
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0036572
Disease: Seizures
Seizures
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0029453
Disease: Osteopenia
Osteopenia
disease 0.100 None 1.000 2 1 2013 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease 0.100 None 1.000 2 1 2013 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0027092
Disease: Myopia
Myopia
disease 0.100 None 1.000 2 1 2013 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
phenotype 0.100 None 1.000 2 1 2013 2014
Entrez Id: 23233
Gene Symbol: EXOC6B
EXOC6B
exocyst complex component 6B 0.682 0.577 0.12
CUI: C0026650
Disease: Movement Disorders
Movement Disorders
group 0.100 None 1.000 1 1 2016 2016