TFAP2A, transcription factor AP-2 alpha, 7020

N. diseases: 250; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome 		0.800 GeneticVariation disease CLINVAR
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.410 Biomarker disease HPO
CUI: C0152423
Disease: Congenital small ears
Congenital small ears 		0.400 Biomarker disease HPO
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		0.120 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.110 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.110 Biomarker disease HPO
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis 		0.110 Biomarker disease HPO
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.110 CausalMutation disease CLINVAR
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		0.110 Biomarker disease HPO
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		0.110 Biomarker group HPO
CUI: C0266544
Disease: Microcornea
Microcornea 		0.110 Biomarker disease HPO
CUI: C0282160
Disease: Aplasia Cutis Congenita
Aplasia Cutis Congenita 		0.110 Biomarker disease HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 Biomarker phenotype HPO
CUI: C0002418
Disease: Amblyopia
Amblyopia 		0.100 CausalMutation phenotype CLINVAR
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0011649
Disease: Dermoid Cyst
Dermoid Cyst 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0014877
Disease: Esotropia
Esotropia 		0.100 CausalMutation disease CLINVAR
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		0.100 Biomarker disease HPO
CUI: C0018552
Disease: Hamartoma
Hamartoma 		0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO
CUI: C0018916
Disease: Hemangioma
Hemangioma 		0.100 Biomarker disease HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 CausalMutation phenotype CLINVAR