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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.070 None 1.000 7 2004 2020
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 6 3 1995 2015
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		disease Congenital Abnormality 99 50 0.020 None 1.000 2 1 2011 2013
CUI: C0221358
Disease: Long narrow head
Long narrow head 		disease Congenital Abnormality 154 26 0.100 None 1.000 1 1 2015 2015
CUI: C0238300
Disease: Stenosis of nasolacrimal duct
Stenosis of nasolacrimal duct 		phenotype Finding 7 2 0.100 None 1.000 1 2 2015 2015
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 1.000 1 2 2015 2015
CUI: C0263498
Disease: Premature canities
Premature canities 		phenotype Finding 33 4 0.100 None 1.000 1 1 2015 2015
CUI: C0341059
Disease: Lip pit
Lip pit 		disease Anatomical Abnormality 14 0.010 None 1.000 1 2016 2016
CUI: C0677944
Disease: Sentinel node (disorder)
Sentinel node (disorder) 		disease Disease or Syndrome 130 5 0.010 None 1.000 1 2017 2017
CUI: C0857175
Disease: Postinfarction
Postinfarction 		disease Disease or Syndrome 49 1 0.010 None < 0.001 1 2013 2013
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification 		disease Disease or Syndrome 170 14 0.010 None 1.000 1 2008 2008
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2008 2008
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer 		disease Neoplastic Process 398 7 0.010 None 1.000 1 2001 2001
CUI: C1836678
Disease: Abnormality of the middle ear ossicles
Abnormality of the middle ear ossicles 		phenotype Finding 5 1 0.100 None 1.000 1 1 2015 2015
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype Finding 86 11 0.100 None 1.000 1 2 2015 2015
CUI: C1862066
Disease: Branchial anomaly
Branchial anomaly 		disease Congenital Abnormality 1 3 0.100 None 1.000 1 3 2015 2015
CUI: C1866190
Disease: Atresia of the external auditory canal
Atresia of the external auditory canal 		disease Anatomical Abnormality 44 3 0.100 None 1.000 1 1 2015 2015
CUI: C2676973
Disease: Dilatated internal auditory canal
Dilatated internal auditory canal 		phenotype Finding 7 2 0.100 None 1.000 1 1 2015 2015
CUI: C3266076
Disease: Orofacial cleft
Orofacial cleft 		disease Congenital Abnormality 18 2 0.200 None 1.000 1 2015 2015
CUI: C4021230
Disease: Ectopic lacrimal punctum
Ectopic lacrimal punctum 		phenotype Anatomical Abnormality 1 1 0.100 None 1.000 1 1 2015 2015
CUI: C4025884
Disease: Abnormality of upper lip
Abnormality of upper lip 		disease Anatomical Abnormality 6 1 0.100 None 1.000 1 1 2015 2015
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		phenotype Anatomical Abnormality 78 37 0.010 None 1.000 1 2008 2008
CUI: C4551485
Disease: Clinodactyly
Clinodactyly 		disease Congenital Abnormality 148 18 0.300 moderate 1.000 1 2009 2009
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		disease Congenital Abnormality 30 2 0.100 None 0 1
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0