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: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.800 GeneticVariation disease BEFREE <i>CHD8</i> (chromodomain helicase DNA-binding protein 8), which codes for a member of the CHD family of ATP-dependent chromatin-remodeling factors, is one of the most commonly mutated genes in autism spectrum disorders (ASD) identified in exome-sequencing studies. 28321286 2017
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.070 GeneticVariation group BEFREE Autism spectrum disorder early in development associated with CHD8 mutations among two Chinese children. 30376831 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.700 Biomarker disease BEFREE Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons. 30574290 2018
CUI: C0524528
Disease: Pervasive Development Disorder
Pervasive Development Disorder 		0.070 Biomarker group BEFREE CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. 25294932 2014
CUI: C0936223
Disease: Metastatic Prostate Carcinoma
Metastatic Prostate Carcinoma 		0.010 AlteredExpression disease BEFREE CHD8 expression was decreased in HGPIN, localized, and metastatic PCa compared to benign (P < .001). 25499215 2014
CUI: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		0.010 AlteredExpression disease BEFREE CHD8 expression was decreased in HGPIN, localized, and metastatic PCa compared to benign (P < .001). 25499215 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.040 PosttranslationalModification group BEFREE CHD8 promoter hypermethylation, assessed by Quantitative Pyrosequencing, occurred in over 45% of primary cancers in this population as well as the TGCA database. 25499215 2014
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 Biomarker disease BEFREE CHD8 outperformed Gleason score and predicted biochemical failure within intermediate grade prostate cancers. 25499215 2014