FOXN1, forkhead box N1, 8456

N. diseases: 60; N. variants: 5
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: C1866426
Disease: T-cell immunodeficiency, congenital alopecia and nail dystrophy
T-cell immunodeficiency, congenital alopecia and nail dystrophy 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1 3 0.910 None 1.000 13 3 1966 2014
CUI: C0477325
Disease: Immunodeficiency associated with other specified major defects
Immunodeficiency associated with other specified major defects 		disease Disease or Syndrome 1 0.200 None 1.000 8 1966 2011
CUI: C0858699
Disease: Skin keratosis
Skin keratosis 		phenotype Skin and Connective Tissue Diseases Acquired Abnormality 1 0.010 None 1.000 1 2009 2009
CUI: C4024723
Disease: Decreased proportion circulating T-helper cells
Decreased proportion circulating T-helper cells 		phenotype Immune System Diseases; Hemic and Lymphatic Diseases Finding 1 0.100 None 0
CUI: C4025175
Disease: Congenital alopecia totalis
Congenital alopecia totalis 		disease Congenital Abnormality 2 0.100 None 0
CUI: C0265992
Disease: alopecia congenita
alopecia congenita 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 3 0.010 None 1.000 1 2008 2008
CUI: C3495530
Disease: Congenital alopecia X-linked
Congenital alopecia X-linked 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 3 0.010 None 1.000 1 2008 2008
CUI: C4025208
Disease: Severe T-cell immunodeficiency
Severe T-cell immunodeficiency 		disease Disease or Syndrome 5 2 0.100 None 0 1
CUI: C0685894
Disease: Congenital absence of thymus
Congenital absence of thymus 		disease Immune System Diseases Congenital Abnormality 6 2 0.130 None 1.000 3 1 1999 2019
CUI: C0235864
Disease: Congenital hypertrichosis lanuginosa
Congenital hypertrichosis lanuginosa 		disease Skin and Connective Tissue Diseases Congenital Abnormality 6 0.010 None 1.000 1 2017 2017
CUI: C2936812
Disease: Congenital hypertrichosis
Congenital hypertrichosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Congenital Abnormality 6 0.010 None 1.000 1 2017 2017
CUI: C0150993
Disease: Pitting of nails
Pitting of nails 		phenotype Skin and Connective Tissue Diseases Finding 8 0.100 None 0
CUI: C0392485
Disease: Congenital diverticulum of pharynx
Congenital diverticulum of pharynx 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 10 0.010 None < 0.001 1 2019 2019
CUI: C2931322
Disease: T-Lymphocytopenia
T-Lymphocytopenia 		disease Immune System Diseases; Hemic and Lymphatic Diseases Finding 17 0.100 None 0
CUI: C0263505
Disease: Alopecia universalis
Alopecia universalis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 19 2 0.010 None 1.000 1 1 2012 2012
CUI: C0423820
Disease: Ridged nails
Ridged nails 		phenotype Finding 22 0.100 None 0
CUI: C0014458
Disease: Eosinophilia, Tropical
Eosinophilia, Tropical 		disease Hemic and Lymphatic Diseases Disease or Syndrome 24 0.010 None 1.000 1 2017 2017
CUI: C0040115
Disease: Thymus Hyperplasia
Thymus Hyperplasia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 30 1 0.200 None 1.000 1 2016 2016
CUI: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 34 0.020 None 1.000 2 2017 2019
CUI: C0022603
Disease: Seborrheic keratosis
Seborrheic keratosis 		disease Skin and Connective Tissue Diseases Neoplastic Process 44 21 0.010 None 1.000 1 2009 2009
CUI: C0265354
Disease: CHARGE Syndrome
CHARGE Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 49 205 0.010 None 1.000 1 2018 2018
CUI: C1849075
Disease: Relative macrocephaly
Relative macrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 49 19 0.100 None 0 1
CUI: C0002902
Disease: Anencephaly
Anencephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 59 10 0.010 None 1.000 1 2008 2008
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 61 21 0.010 None 1.000 1 2020 2020
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 81 9 0.130 None 1.000 3 2009 2019