TBX1, T-box transcription factor 1, 6899

N. diseases: 417; N. variants: 14
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 10 1 1992 2016
CUI: C1853238
Disease: Conotruncal defect
Conotruncal defect 		disease Congenital Abnormality 51 45 0.070 None 0.714 7 1996 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.060 None 1.000 6 2010 2018
CUI: C3539168
Disease: PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A 		disease Disease or Syndrome 34 3 0.060 None 1.000 6 1993 2010
CUI: C0741916
Disease: Cardiac defects
Cardiac defects 		group Disease or Syndrome 62 2 0.050 None 1.000 5 1996 2019
CUI: C0220810
Disease: Congenital defects
Congenital defects 		group Congenital Abnormality 126 6 0.030 None 1.000 3 1995 2006
CUI: C3150966
Disease: Supernumerary der(22)t(8;22) syndrome
Supernumerary der(22)t(8;22) syndrome 		disease Disease or Syndrome 4 0.030 None 1.000 3 1999 2002
CUI: C0000846
Disease: Agenesis
Agenesis 		disease Congenital Abnormality 161 44 0.020 None 1.000 2 2018 2020
CUI: C0280141
Disease: Acute Undifferentiated Leukemia
Acute Undifferentiated Leukemia 		disease Neoplastic Process 119 1 0.020 None 1.000 2 2007 2011
CUI: C1378511
Disease: Undifferentiated leukemia
Undifferentiated leukemia 		disease Neoplastic Process 120 2 0.020 None 1.000 2 2007 2011
CUI: C3266101
Disease: 22q11 partial monosomy syndrome
22q11 partial monosomy syndrome 		disease Disease or Syndrome 12 0.310 None 1.000 2 2002 2003
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.020 None 1.000 2 2011 2012
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom 		phenotype Sign or Symptom 95 12 0.010 None 1.000 1 2007 2007
CUI: C0345065
Disease: Cervical aortic arch
Cervical aortic arch 		disease Congenital Abnormality 2 0.010 None 1.000 1 1997 1997
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2017 2017
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction 		phenotype Disease or Syndrome 716 25 0.010 None < 0.001 1 2017 2017
CUI: C1561921
Disease: Non-ST elevation (NSTEMI) myocardial infarction
Non-ST elevation (NSTEMI) myocardial infarction 		disease Disease or Syndrome 17 0.010 None 1.000 1 2018 2018
CUI: C1744558
Disease: T-lymphocyte deficiency
T-lymphocyte deficiency 		disease Disease or Syndrome 25 0.010 None 1.000 1 1997 1997
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		disease Finding 578 1158 0.100 None 1.000 1 1 2019 2019
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome 		disease Disease or Syndrome 52 0.010 None 1.000 1 2006 2006
CUI: C1954751
Disease: Microdeletion syndromes
Microdeletion syndromes 		disease Disease or Syndrome 18 0.010 None 1.000 1 2001 2001
CUI: C1969372
Disease: Tubulointerstitial fibrosis
Tubulointerstitial fibrosis 		phenotype Disease or Syndrome 328 0.010 None 1.000 1 2014 2014
CUI: C2697758
Disease: Interleukin 10 Measurement
Interleukin 10 Measurement 		phenotype Laboratory Procedure 14 24 0.100 None 1.000 1 1 2012 2012
CUI: C3554224
Disease: LEPTIN DEFICIENCY OR DYSFUNCTION
LEPTIN DEFICIENCY OR DYSFUNCTION 		disease Disease or Syndrome 15 3 0.010 None 1.000 1 2018 2018
CUI: C4744527
Disease: Temporal Lobe Pleomorphic Xanthoastrocytoma
Temporal Lobe Pleomorphic Xanthoastrocytoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2011 2011