Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 Biomarker disease MGD
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 Biomarker disease HPO
CUI: C3554373
Disease: AUTISM, SUSCEPTIBILITY TO, 18
AUTISM, SUSCEPTIBILITY TO, 18 		0.600 SusceptibilityMutation disease CLINVAR
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		0.490 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.490 Biomarker group HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO
CUI: C0009806
Disease: Constipation
Constipation 		0.100 Biomarker phenotype HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot 		0.100 Biomarker phenotype HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		0.100 Biomarker phenotype HPO
CUI: C0241240
Disease: Tall stature
Tall stature 		0.100 Biomarker phenotype HPO
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C0426421
Disease: Wide nose
Wide nose 		0.100 Biomarker phenotype HPO
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		0.100 Biomarker disease HPO
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		0.100 Biomarker group HPO
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		0.100 Biomarker phenotype HPO
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.100 Biomarker phenotype HPO
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes. 18378692 2008
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes. 18378692 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes. 18378692 2008
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 CausalMutation disease CLINVAR CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes. 18378692 2008
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation phenotype CLINVAR CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes. 18378692 2008
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		0.030 Biomarker disease BEFREE Disruption of the direct CHD7-CHD8 interaction might change the conformation of a putative large CHD7-CHD8 complex and could be a disease mechanism in CHARGE syndrome. 20453063 2010
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Genetic and expressional alterations of CHD genes in gastric and colorectal cancers. 21447119 2011
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 GeneticVariation phenotype CLINVAR Genetic and expressional alterations of CHD genes in gastric and colorectal cancers. 21447119 2011