TFAP2A, transcription factor AP-2 alpha, 7020

N. diseases: 250; N. variants: 20
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: C0005699
Disease: Blast Phase
Blast Phase 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 299 14 0.010 None 1.000 1 2010 2010
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C1862066
Disease: Branchial anomaly
Branchial anomaly 		disease Congenital Abnormality 1 3 0.100 None 1.000 1 3 2015 2015
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 16 0.800 None 1.000 20 16 1996 2019
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 14 0.300 None 1.000 1 2009 2009
CUI: C4551702
Disease: Branchiootorenal Syndrome 1
Branchiootorenal Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 5 24 0.300 None 1.000 1 2009 2009
CUI: C1970479
Disease: Branchiootorenal Syndrome 2
Branchiootorenal Syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 4 4 0.300 None 1.000 1 2009 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.400 None 0.957 23 1998 2019
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		phenotype Finding 125 8 0.100 None 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality 497 70 0.100 None 0 1
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 1.000 11 1996 2019
CUI: C0007097
Disease: Carcinoma
Carcinoma 		group Neoplasms Neoplastic Process 2462 103 0.020 None 1.000 2 2001 2011
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2019 2019
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.020 None 1.000 2 2014 2018
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.020 None 1.000 2 2004 2015
CUI: C0346990
Disease: Carcinomatosis of peritoneal cavity
Carcinomatosis of peritoneal cavity 		disease Digestive System Diseases; Neoplasms Neoplastic Process 107 3 0.010 None 1.000 1 2004 2004
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.010 None 1.000 1 2004 2004
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease Cardiovascular Diseases Disease or Syndrome 773 243 0.010 None 1.000 1 2004 2004
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 2 9 0.010 None 1.000 1 2016 2016
CUI: C4086152
Disease: Childhood Astrocytoma
Childhood Astrocytoma 		disease Neoplasms Neoplastic Process 615 39 0.010 None 1.000 1 2007 2007
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 877 43 0.010 None 1.000 1 2017 2017
CUI: C0008497
Disease: Choriocarcinoma
Choriocarcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 431 2 0.020 None 1.000 2 2001 2012
CUI: C2931852
Disease: Clear-cell metastatic renal cell carcinoma
Clear-cell metastatic renal cell carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 260 11 0.010 None 1.000 1 2004 2004
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		phenotype Anatomical Abnormality 78 37 0.010 None 1.000 1 2008 2008