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: C1862066
Disease: Branchial anomaly
Branchial anomaly
disease Congenital Abnormality 1 3 0.100 None 1.000 1 3 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
Unilateral conductive hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 1 0.100 None 1.000 1 1 2015 2015
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: C1862059
Disease: Supraauricular pit
Supraauricular pit
disease Congenital Abnormality 1 0.100 None 0
CUI: C1862068
Disease: Fusion of middle ear ossicles
Fusion of middle ear ossicles
phenotype Finding 1 0.100 None 0
CUI: C4022176
Disease: Upper lip pit
Upper lip pit
phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4023795
Disease: Ectopic thymus tissue
Ectopic thymus tissue
phenotype Finding 1 0.100 None 0
CUI: C1867020
Disease: SCALP-EAR-NIPPLE SYNDROME
SCALP-EAR-NIPPLE SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases Disease or Syndrome 2 8 0.010 None 1.000 1 2013 2013
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: C1844857
Disease: Short nasal septum
Short nasal septum
phenotype Finding 2 0.100 None 0
CUI: C4025234
Disease: Duplication of internal organs
Duplication of internal organs
disease Anatomical Abnormality 2 0.100 None 0
CUI: C1861544
Disease: Lower lip pit
Lower lip pit
phenotype Finding 3 1 0.100 None 0
CUI: C0266092
Disease: Congenital lip pits
Congenital lip pits
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Respiratory Tract Diseases; Stomatognathic Diseases Congenital Abnormality 4 0.010 None 1.000 1 2016 2016
CUI: C0452136
Disease: Conductive hearing loss, bilateral
Conductive hearing loss, bilateral
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 4 3 0.100 None 1.000 1 1 2015 2015
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: C0266196
Disease: Malrotation of colon
Malrotation of colon
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 4 0.100 None 0
CUI: C1845250
Disease: Small forehead
Small forehead
phenotype Finding 4 0.100 None 0
CUI: C1865305
Disease: Hypoplastic superior helix
Hypoplastic superior helix
phenotype Finding 4 0.100 None 0
Abnormality of the middle ear ossicles
phenotype Finding 5 1 0.100 None 1.000 1 1 2015 2015
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: 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: C0238300
Disease: Stenosis of nasolacrimal duct
Stenosis of nasolacrimal duct
phenotype Finding 7 2 0.100 None 1.000 1 2 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: 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