Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples 		0.100 Biomarker phenotype HPO
CUI: C0426421
Disease: Wide nose
Wide nose 		0.100 CausalMutation phenotype CLINVAR
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.100 GeneticVariation phenotype GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.010 Biomarker disease BEFREE Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). 27562378 2016
CUI: C0042842
Disease: Vitamin A Deficiency
Vitamin A Deficiency 		0.010 Biomarker disease BEFREE Other congenital malformations commonly found in association with ocular coloboma (e.g. oesophageal fistulae and heart defects in CHARGE association) may also be VAD related. 14586282 2003
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		0.100 Biomarker phenotype HPO
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.110 Biomarker disease HPO
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.110 GeneticVariation disease BEFREE We report on a male infant with congenital hypothyroidism owing to athyreosis occurring with the CHARGE association (bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux). 2051459 1991
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.010 Biomarker disease BEFREE The malformations (n = 36) included hemifacial microsomia (n = 10), cleft lip and palate (n = 8), cleft palate (n = 4), rare facial cleft (n = 2), craniosynostosis (n = 2), Binder syndrome (n = 2), Treacher Collins syndrome (n = 2), craniopagus (n = 2), CHARGE association (n = 1), frontonasal dysplasia (n = 2), and constricted ears (n = 1). 1984262 1991
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 Biomarker phenotype BEFREE Here, we show that CHD7 is up-regulated in human glioma tissues and we demonstrate that CHD7 knockout (KO) in LN-229 glioblastoma cells suppresses anchorage-independent growth and spheroid invasion in vitro. 30850678 2019
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy 		0.010 GeneticVariation disease BEFREE Less common myopathies included metabolic myopathy (2 families), congenital myasthenic syndrome (DOK7), congenital myopathy (ACTA1), tubular aggregate myopathy (STIM1), myofibrillar myopathy (FLNC), and mutation of CHD7, usually associated with the CHARGE syndrome. 26436962 2015
CUI: C4317091
Disease: Trisomy 18 Syndrome
Trisomy 18 Syndrome 		0.010 Biomarker disease BEFREE We report a neonate with trisomy 18 and apparent CHARGE association. 7613237 1995
CUI: C4319808
Disease: Trisomy 13 Syndrome
Trisomy 13 Syndrome 		0.010 GeneticVariation disease BEFREE In this study, three Korean patients with CHARGE syndrome including one patient with Patau syndrome were evaluated for genetic analysis of the CHD7 gene using direct sequencing of all 38 exons and the flanking intronic regions. 23333604 2013
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 Biomarker disease BEFREE Here we review the clinical and molecular aspects of CHD7 that are related to the cardiovascular manifestations of the syndrome. 29088513 2017
CUI: C0040822
Disease: Tremor
Tremor 		0.100 Biomarker phenotype HPO
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		0.100 GeneticVariation disease CLINVAR
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		0.100 Biomarker disease HPO
CUI: C0040583
Disease: Tracheal Stenosis
Tracheal Stenosis 		0.100 CausalMutation disease CLINVAR
CUI: C0040147
Disease: Thyroiditis
Thyroiditis 		0.100 Biomarker disease HPO
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis 		0.010 Biomarker disease BEFREE The CHARGE association and athyreosis. 2051459 1991
CUI: C0241165
Disease: Thick skin
Thick skin 		0.100 Biomarker phenotype HPO