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: 29781
Gene Symbol: NCAPH2
NCAPH2 		non-SMC condensin II complex subunit H2 0.805 0.385 2.9E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group 0.100 None 1.000 1 1 2010 2010
Entrez Id: 29781
Gene Symbol: NCAPH2
NCAPH2 		non-SMC condensin II complex subunit H2 0.805 0.385 2.9E-04
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.100 None 0 1
Entrez Id: 29781
Gene Symbol: NCAPH2
NCAPH2 		non-SMC condensin II complex subunit H2 0.805 0.385 2.9E-04
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder) 		disease 0.100 None 0 2
Entrez Id: 29781
Gene Symbol: NCAPH2
NCAPH2 		non-SMC condensin II complex subunit H2 0.805 0.385 2.9E-04
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		phenotype 0.100 None 0 1
Entrez Id: 29781
Gene Symbol: NCAPH2
NCAPH2 		non-SMC condensin II complex subunit H2 0.805 0.385 2.9E-04
CUI: C1858424
Disease: Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency
Cardioencephalomyopathy, Fatal Infantile, due to Cytochrome C Oxidase Deficiency 		disease 0.100 None 0 7