Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.440 Biomarker group GENOMICS_ENGLAND
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.440 Biomarker group HPO
Congenital ocular coloboma (disorder)
0.110 Biomarker disease HPO
CUI: C0009806
Disease: Constipation
Constipation
0.110 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures
0.110 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.110 Biomarker disease HPO
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior
0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism
0.100 Biomarker disease HPO
CUI: C0011998
Disease: Diastema of Teeth
Diastema of Teeth
0.100 Biomarker disease HPO
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria
0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.100 Biomarker disease HPO
CUI: C0016202
Disease: Flatfoot
Flatfoot
0.100 Biomarker phenotype HPO
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent
0.100 Biomarker disease HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum
0.100 Biomarker disease HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
0.100 Biomarker disease 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 CausalMutation disease CLINVAR
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive
0.100 Biomarker phenotype HPO
CUI: C0024433
Disease: Macrostomia
Macrostomia
0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly
0.100 Biomarker disease HPO
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
0.100 CausalMutation disease CLINVAR
CUI: C0027092
Disease: Myopia
Myopia
0.100 Biomarker disease HPO