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: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.100 None 0
CUI: C0395905
Disease: Postauricular fistula
Postauricular fistula
disease Pathological Conditions, Signs and Symptoms; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Otorhinolaryngologic Diseases Acquired Abnormality 1 0.100 None 0
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow
disease Acquired Abnormality 73 14 0.100 None 0
CUI: C0154823
Disease: Retinal defect
Retinal defect
phenotype Eye Diseases Anatomical Abnormality 13 0.010 None 1.000 1 2009 2009
CUI: C0341059
Disease: Lip pit
Lip pit
disease Anatomical Abnormality 14 0.010 None 1.000 1 2016 2016
Atresia of the external auditory canal
disease Anatomical Abnormality 44 3 0.100 None 1.000 1 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: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine
phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality 153 12 0.100 None 0 1
CUI: C1858085
Disease: Malar flattening
Malar flattening
disease Anatomical Abnormality 190 12 0.100 None 0
CUI: C4022176
Disease: Upper lip pit
Upper lip pit
phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4025234
Disease: Duplication of internal organs
Duplication of internal organs
disease Anatomical Abnormality 2 0.100 None 0
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 6 3 1995 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 6 3 1995 2015
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 255 282 0.410 strong 1.000 3 2 2000 2015
CUI: C0003119
Disease: Anophthalmos
Anophthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 89 6 0.120 None 1.000 2 2009 2016
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 234 4 0.300 None 1.000 2 2003 2009
Cleft Lip with or without Cleft Palate
disease Congenital Abnormality 99 50 0.020 None 1.000 2 1 2011 2013
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.110 None 1.000 1 2015 2015
Congenital ocular coloboma (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 129 21 0.010 None 1.000 1 2009 2009
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality 105 104 0.010 None 1.000 1 2016 2016
CUI: C0014065
Disease: Congenital cerebral hernia
Congenital cerebral hernia
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 93 6 0.010 None 1.000 1 1 2019 2019
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 55 3 0.300 None 1.000 1 2009 2009