Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0852654
Disease: 21-hydroxylase deficiency
21-hydroxylase deficiency 		0.010 GeneticVariation disease BEFREE Simultaneously, a de novo splicing acceptor alteration in c.7165-4 A>G, in chromodomain helicase DNA binding protein-7 (CHD7), located in chromosome 8q12 was detected, and the patient was diagnosed with 21-OHD and CS. 31060112 2019
CUI: C0265404
Disease: 4q partial monosomy syndrome
4q partial monosomy syndrome 		0.010 GeneticVariation disease BEFREE He had duplication 8q and deletion 4q derived from paternal translocation t(4;8)(q34;q22.1).CHD7 mutation or deletion was excluded. 21094707 2011
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.010 Biomarker phenotype BEFREE We found that chd7 heterozygous mutants exhibited anxious-like behavior and aggressive-like behavior in the open-field test and in the mirror-induced attack test, respectively, which resembled the reported behavioral abnormalities in CHARGE syndrome in humans. 31610215 2020
CUI: C4025810
Disease: Abnormal palmar dermatoglyphics
Abnormal palmar dermatoglyphics 		0.100 Biomarker disease HPO
CUI: C4021984
Disease: Abnormal soft palate morphology
Abnormal soft palate morphology 		0.100 Biomarker disease HPO
CUI: C3164445
Disease: Abnormality of aortic valve
Abnormality of aortic valve 		0.100 Biomarker disease HPO
CUI: C4025901
Disease: Abnormality of body height
Abnormality of body height 		0.100 Biomarker disease HPO
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		0.100 Biomarker disease HPO
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.100 CausalMutation phenotype CLINVAR
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 Biomarker disease HPO
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 CausalMutation disease CLINVAR
CUI: C4025900
Disease: Abnormality of female internal genitalia
Abnormality of female internal genitalia 		0.100 Biomarker disease HPO
CUI: C4023616
Disease: Abnormality of immune system physiology
Abnormality of immune system physiology 		0.100 Biomarker phenotype HPO
CUI: C4021794
Disease: Abnormality of the adrenal glands
Abnormality of the adrenal glands 		0.100 Biomarker disease HPO
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		0.100 Biomarker phenotype HPO
CUI: C4021777
Disease: Abnormality of the larynx
Abnormality of the larynx 		0.100 CausalMutation phenotype CLINVAR
CUI: C4025814
Disease: Abnormality of the metaphysis
Abnormality of the metaphysis 		0.100 Biomarker disease HPO
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.100 Biomarker disease HPO
CUI: C1842083
Disease: Abnormality of the ribs
Abnormality of the ribs 		0.100 Biomarker disease HPO
CUI: C4021655
Disease: Abnormality of the sense of smell
Abnormality of the sense of smell 		0.100 CausalMutation phenotype CLINVAR
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		0.100 Biomarker disease HPO
CUI: C4025663
Disease: Abnormality of tibia morphology
Abnormality of tibia morphology 		0.100 Biomarker disease HPO
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		0.100 Biomarker disease HPO
CUI: C1844862
Disease: Abruzzo Erickson syndrome
Abruzzo Erickson syndrome 		0.010 GeneticVariation disease BEFREE We conclude that exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. 18472328 2008
CUI: C1846228
Disease: Absence of pubertal development
Absence of pubertal development 		0.100 Biomarker phenotype HPO