Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.480 Biomarker disease HPO
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.440 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.420 Biomarker group HPO
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.310 Biomarker group GENOMICS_ENGLAND
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.110 Biomarker phenotype HPO
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		0.100 Biomarker disease HPO
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0011981
Disease: Diaphragmatic Eventration
Diaphragmatic Eventration 		0.100 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO
CUI: C0019294
Disease: Hernia, Inguinal
Hernia, Inguinal 		0.100 Biomarker phenotype HPO
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.100 Biomarker disease HPO
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		0.100 Biomarker disease HPO
CUI: C0149955
Disease: Annular pancreas
Annular pancreas 		0.100 Biomarker disease HPO