Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0973461
Disease: Dysphasia
Dysphasia 		disease 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0729198
Disease: Decreased circulating parathyroid hormone level
Decreased circulating parathyroid hormone level 		phenotype 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0702166
Disease: Acne
Acne 		disease 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus 		disease 0.120 None 1.000 0 0 2014 2015
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0685695
Disease: Abnormal lung lobation
Abnormal lung lobation 		disease 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior 		disease 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0578038
Disease: Thin lips
Thin lips 		phenotype 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0566620
Disease: Nasal voice
Nasal voice 		phenotype 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum 		phenotype 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C1836735
Disease: hypopigmented skin patch
hypopigmented skin patch 		phenotype 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C1834055
Disease: Underdeveloped nasal alae
Underdeveloped nasal alae 		phenotype 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C1456784
Disease: Paranoia
Paranoia 		disease 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C1389851
Disease: Parathyroid hypoplasia
Parathyroid hypoplasia 		disease 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		disease 0.110 None 1.000 0 0 2013 2013
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C1321907
Disease: Congenital absence of parathyroid gland
Congenital absence of parathyroid gland 		disease 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C1306503
Disease: Congenital exomphalos
Congenital exomphalos 		disease 0.100 None 0 0
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		T-box transcription factor 1 0.433 0.808 0.84
CUI: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		disease 0.100 None 0 0