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.
Cleft Lip with or without Cleft Palate
disease Congenital Abnormality 99 50 0.400 strong 1.000 26 1 2004 2019
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips
phenotype Anatomical Abnormality 78 37 0.100 None 0.905 21 2 2003 2019
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO
disease Finding 1 8 0.700 None 1.000 16 8 2002 2017
CUI: C1837217
Disease: Cleft lip, isolated
Cleft lip, isolated
disease Congenital Abnormality 20 2 0.050 None 1.000 5 2004 2016
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.040 None 1.000 4 4 2007 2012
CUI: C0341059
Disease: Lip pit
Lip pit
disease Anatomical Abnormality 14 0.420 strong 1.000 2 2010 2016
CUI: C4021813
Disease: Oral cleft
Oral cleft
disease Congenital Abnormality 85 28 0.020 None 0.500 2 1 2011 2013
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
disease Disease or Syndrome 741 81 0.020 None 1.000 2 2011 2017
Idiopathic growth hormone deficiency
disease Disease or Syndrome 10 0.010 None 1.000 1 2017 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.010 None 1.000 1 2011 2011
CUI: C0740404
Disease: Limb defects
Limb defects
group Congenital Abnormality 67 2 0.010 None 1.000 1 2013 2013
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2018 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2011 2011
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.010 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
Small intestinal bacterial overgrowth
disease Disease or Syndrome 14 0.010 None 1.000 1 2011 2011
CUI: C3266076
Disease: Orofacial cleft
Orofacial cleft
disease Congenital Abnormality 18 2 0.010 None 1.000 1 2017 2017
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1
disease Disease or Syndrome 16 10 0.010 None 1.000 1 2017 2017
CUI: C3826150
Disease: Hypothyroidism in children
Hypothyroidism in children
disease Disease or Syndrome 3 0.010 None 1.000 1 2019 2019
CUI: C3841283
Disease: Cleft Palate alone
Cleft Palate alone
disease Congenital Abnormality 1 4 0.010 None 1.000 1 2010 2010
Primary papillary adenocarcinoma of lung
disease Neoplastic Process 1 0.010 None 1.000 1 2017 2017
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype Anatomical Abnormality 19 1 0.010 None 1.000 1 2017 2017
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology
disease Congenital Abnormality 35 3 0.010 None 1.000 1 2008 2008
CUI: C0239043
Disease: Difficulty chewing
Difficulty chewing
phenotype Finding 14 0.100 None 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla
disease Congenital Abnormality 113 5 0.100 None 0