TBX2, T-box transcription factor 2, 6909

N. diseases: 152; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748741
Disease: VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION 		0.400 CausalMutation disease CLINVAR
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.100 Biomarker disease HPO
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.100 CausalMutation disease CLINVAR
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		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: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 CausalMutation group CLINVAR
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		0.100 Biomarker group HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0020626
Disease: Hypoparathyroidism
Hypoparathyroidism 		0.100 Biomarker disease HPO
CUI: C0022738
Disease: Klippel-Feil Syndrome
Klippel-Feil Syndrome 		0.100 CausalMutation disease CLINVAR
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 CausalMutation disease CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.100 CausalMutation phenotype CLINVAR
CUI: C0040147
Disease: Thyroiditis
Thyroiditis 		0.100 CausalMutation disease CLINVAR
CUI: C0152438
Disease: Sprengel deformity
Sprengel deformity 		0.100 Biomarker disease HPO
CUI: C0152438
Disease: Sprengel deformity
Sprengel deformity 		0.100 CausalMutation disease CLINVAR
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum 		0.100 CausalMutation disease CLINVAR
CUI: C0221217
Disease: Neck webbing
Neck webbing 		0.100 Biomarker disease HPO
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 CausalMutation disease CLINVAR
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0.100 Biomarker disease HPO
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.100 CausalMutation phenotype CLINVAR
CUI: C0239234
Disease: Low set ears
Low set ears 		0.100 CausalMutation disease CLINVAR