TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 ChromosomalRearrangement disease ORPHANET
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		1.000 CausalMutation disease CLINVAR
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 CausalMutation disease CLINVAR
CUI: C0220704
Disease: Shprintzen syndrome
Shprintzen syndrome 		1.000 ChromosomalRearrangement disease ORPHANET
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.790 Biomarker disease HPO
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.790 Biomarker disease GENOMICS_ENGLAND
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.790 GeneticVariation disease CLINVAR
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.610 GeneticVariation disease UNIPROT
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.610 Biomarker disease CTD_human
CUI: C1857586
Disease: CONOTRUNCAL HEART MALFORMATIONS (disorder)
CONOTRUNCAL HEART MALFORMATIONS (disorder) 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C0795907
Disease: CONOTRUNCAL ANOMALY FACE SYNDROME
CONOTRUNCAL ANOMALY FACE SYNDROME 		0.510 ChromosomalRearrangement disease ORPHANET
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.500 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.470 Biomarker disease GENOMICS_ENGLAND
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.470 Biomarker disease HPO
CUI: C2936346
Disease: 22q11 Deletion Syndrome
22q11 Deletion Syndrome 		0.390 ChromosomalRearrangement disease ORPHANET
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.320 GeneticVariation disease UNIPROT
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		0.310 ChromosomalRearrangement disease ORPHANET
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association 		0.300 ChromosomalRearrangement disease ORPHANET
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.220 Biomarker disease MGD
CUI: C0040761
Disease: Transposition of Great Vessels
Transposition of Great Vessels 		0.200 Biomarker disease HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.140 Biomarker group HPO
CUI: C0020598
Disease: Hypocalcemia
Hypocalcemia 		0.140 Biomarker phenotype HPO
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		0.140 Biomarker disease HPO
CUI: C0013069
Disease: Double Outlet Right Ventricle
Double Outlet Right Ventricle 		0.130 Biomarker disease HPO