IRF6, interferon regulatory factor 6, 3664

N. diseases: 233; N. variants: 43
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: C1837213
Disease: OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO 		disease Finding 1 8 0.700 None 1.000 16 8 2002 2017
CUI: C3841283
Disease: Cleft Palate alone
Cleft Palate alone 		disease Congenital Abnormality 1 4 0.010 None 1.000 1 2010 2010
CUI: C3873370
Disease: Primary papillary adenocarcinoma of lung
Primary papillary adenocarcinoma of lung 		disease Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C0158651
Disease: Cleft lip, unilateral, complete
Cleft lip, unilateral, complete 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 1 0.200 None 0
CUI: C4021392
Disease: Fibrous syngnathia
Fibrous syngnathia 		disease Anatomical Abnormality 1 0.100 None 0
CUI: C4024212
Disease: Pyramidal skinfold extending from the base to the top of the nails
Pyramidal skinfold extending from the base to the top of the nails 		disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 1 0.100 None 0
CUI: C4551864
Disease: VAN DER WOUDE SYNDROME 1
VAN DER WOUDE SYNDROME 1 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 28 0.610 None 1.000 23 27 2002 2017
CUI: C1335325
Disease: Papillary Lung Adenocarcinoma
Papillary Lung Adenocarcinoma 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C1847604
Disease: Van der Woude syndrome 2
Van der Woude syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 7 0.010 None 1.000 1 2011 2011
CUI: C3810471
Disease: Intercrural pterygium
Intercrural pterygium 		phenotype Eye Diseases Finding 2 0.100 None 0
CUI: C0032805
Disease: Postpericardiotomy Syndrome
Postpericardiotomy Syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1834339
Disease: Myopathy, Actin, Congenital, with Excess of Thin Myofilaments
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 1 0.200 None 1.000 1 2010 2010
CUI: C3150891
Disease: COCOON SYNDROME
COCOON SYNDROME 		disease Disease or Syndrome 3 1 0.010 None 1.000 1 2015 2015
CUI: C3826150
Disease: Hypothyroidism in children
Hypothyroidism in children 		disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C1861544
Disease: Lower lip pit
Lower lip pit 		phenotype Finding 3 1 0.100 None 0 1
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 0.320 strong 1.000 2 2010 2016
CUI: C1298692
Disease: Cleft lip and alveolus
Cleft lip and alveolus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 4 0.300 None 1.000 1 2007 2007
CUI: C0262475
Disease: Congenital abnormality of Eustachian tube
Congenital abnormality of Eustachian tube 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 4 0.100 None 0
CUI: C0546952
Disease: Congenital facial asymmetry
Congenital facial asymmetry 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 5 0.010 None 1.000 1 2013 2013
CUI: C0685775
Disease: Congenital absence of jaw
Congenital absence of jaw 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 5 0.010 None 1.000 1 2017 2017
CUI: C1096582
Disease: Campylobacter jejuni infection
Campylobacter jejuni infection 		disease Infections Disease or Syndrome 5 0.010 None < 0.001 1 2004 2004
CUI: C2931488
Disease: Zlotogora-Ogur syndrome
Zlotogora-Ogur syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 5 4 0.010 None 1.000 1 2004 2004
CUI: C0149772
Disease: Abnormal salivary gland morphology
Abnormal salivary gland morphology 		phenotype Stomatognathic Diseases Anatomical Abnormality 5 0.100 None 0
CUI: C4023357
Disease: Maternal teratogenic exposure
Maternal teratogenic exposure 		phenotype Finding 5 1 0.100 None 0
CUI: C4025062
Disease: Supernumerary maxillary incisor
Supernumerary maxillary incisor 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 5 0.100 None 0