Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.610 SusceptibilityMutation disease ORPHANET
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.610 Biomarker disease HPO
CUI: C3280790
Disease: ATRIAL SEPTAL DEFECT 8
ATRIAL SEPTAL DEFECT 8 		0.500 Biomarker disease CTD_human
CUI: C3280790
Disease: ATRIAL SEPTAL DEFECT 8
ATRIAL SEPTAL DEFECT 8 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.310 Biomarker group CTD_human
CUI: C0037221
Disease: Situs Inversus
Situs Inversus 		0.300 SusceptibilityMutation disease ORPHANET
CUI: C3280783
Disease: VENTRICULAR SEPTAL DEFECT 2
VENTRICULAR SEPTAL DEFECT 2 		0.300 Biomarker disease GENOMICS_ENGLAND
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0015300
Disease: Exophthalmos
Exophthalmos 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker disease HPO
CUI: C0266610
Disease: Preauricular dimple
Preauricular dimple 		0.100 Biomarker disease HPO
CUI: C0344925
Disease: Perimembranous ventricular septal defect
Perimembranous ventricular septal defect 		0.100 Biomarker disease HPO
CUI: C0578038
Disease: Thin lips
Thin lips 		0.100 Biomarker phenotype HPO
CUI: C1849089
Disease: Broad forehead
Broad forehead 		0.100 Biomarker phenotype HPO
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 Biomarker disease HPO
CUI: C1861869
Disease: Underdeveloped supraorbital ridges
Underdeveloped supraorbital ridges 		0.100 Biomarker phenotype HPO
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		0.100 Biomarker disease HPO
CUI: C4551905
Disease: Pulmonary Venous Return Anomaly
Pulmonary Venous Return Anomaly 		0.100 Biomarker disease HPO
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.610 Biomarker disease MGD The essential role of Cited2, a negative regulator for HIF-1alpha, in heart development and neurulation. 12149478 2002
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		0.310 Biomarker group CTD_human In summary, the observation of these mutations in patients with septal defects indicates that CITED2 has a causative impact in the development of CHD in humans. 16287139 2005
CUI: C0018816
Disease: Heart Septal Defects
Heart Septal Defects 		0.310 GeneticVariation group BEFREE In summary, the observation of these mutations in patients with septal defects indicates that CITED2 has a causative impact in the development of CHD in humans. 16287139 2005
CUI: C0344724
Disease: Ostium secundum atrial septal defect
Ostium secundum atrial septal defect 		0.300 GermlineCausalMutation disease ORPHANET Identification and functional analysis of CITED2 mutations in patients with congenital heart defects. 16287139 2005