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: 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: 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: 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.400 None 0.909 22 1998 2019
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality 137 13 0.400 strong 1.000 1 1996 1996
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.370 None 1.000 8 1999 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.310 None < 0.001 1 2000 2000
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
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 160 7 0.300 moderate 1.000 1 2009 2009
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.300 None 1.000 1 2009 2009
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.300 moderate 1.000 1 2009 2009
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
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: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 1.000 1 2005 2005
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 1.000 1 2005 2005
CUI: C0039075
Disease: Syndactyly
Syndactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 127 26 0.300 moderate 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: 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: C4551485
Disease: Clinodactyly
Clinodactyly
disease Congenital Abnormality 148 18 0.300 moderate 1.000 1 2009 2009
CUI: C3266076
Disease: Orofacial cleft
Orofacial cleft
disease Congenital Abnormality 18 2 0.200 None 1.000 1 2015 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: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 393 14 0.110 None 1.000 1 2013 2013
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.110 None 1.000 1 2010 2010
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin
group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 111 4 0.110 None 1.000 1 2001 2001
Sensorineural Hearing Loss (disorder)
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.110 None 1.000 1 2009 2009