SON, SON DNA binding protein, 6651

N. diseases: 154; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 GeneticVariation phenotype CLINVAR
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 Biomarker phenotype GENOMICS_ENGLAND
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 CausalMutation phenotype CLINVAR
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 Biomarker phenotype CTD_human
CUI: C4310696
Disease: Zhu-Tokita-Takenouchi-Kim syndrome
Zhu-Tokita-Takenouchi-Kim syndrome 		0.710 Biomarker phenotype GENOMICS_ENGLAND
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.130 Biomarker group HPO
CUI: C0221353
Disease: Horseshoe Kidney
Horseshoe Kidney 		0.110 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0.100 Biomarker disease HPO
CUI: C0003803
Disease: Arnold Chiari Malformation
Arnold Chiari Malformation 		0.100 Biomarker disease HPO
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.100 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.100 Biomarker disease HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0013990
Disease: Pathological accumulation of air in tissues
Pathological accumulation of air in tissues 		0.100 Biomarker phenotype HPO
CUI: C0014877
Disease: Esotropia
Esotropia 		0.100 Biomarker disease HPO
CUI: C0015310
Disease: Exotropia
Exotropia 		0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0020490
Disease: Hyperopia
Hyperopia 		0.100 Biomarker disease HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO