ZNF469, zinc finger protein 469, 84627

N. diseases: 101; N. variants: 27
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: C0268344
Disease: Ehlers-Danlos syndrome 6B
Ehlers-Danlos syndrome 6B
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 5 4 0.800 strong 1.000 15 2 2008 2019
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype Musculoskeletal Diseases Pathologic Function 224 15 0.400 None 1.000 1 2008 2008
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 106 16 0.300 None 1.000 1 2008 2008
CUI: C0022410
Disease: Joint Instability
Joint Instability
phenotype Musculoskeletal Diseases Finding 3 0.300 None 1.000 1 2008 2008
CUI: C0010034
Disease: Corneal Diseases
Corneal Diseases
group Eye Diseases Disease or Syndrome 47 0.300 None 1.000 1 2008 2008
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases
group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.300 strong 1.000 1 2013 2013
CUI: C0022578
Disease: Keratoconus
Keratoconus
disease Eye Diseases Disease or Syndrome 269 83 0.200 None 0.900 10 5 2013 2019
CUI: C0271183
Disease: Severe myopia
Severe myopia
disease Eye Diseases Disease or Syndrome 184 116 0.110 None 1.000 1 2016 2016
CUI: C1096274
Disease: Corneal thinning
Corneal thinning
disease Disease or Syndrome 6 0.110 None 1.000 1 2012 2012
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C1844592
Disease: Soft skin
Soft skin
phenotype Finding 22 3 0.100 None 0
CUI: C1844597
Disease: Molluscoid pseudotumors
Molluscoid pseudotumors
disease Disease or Syndrome 5 0.100 None 0
CUI: C0231528
Disease: Myalgia
Myalgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 226 22 0.100 None 0
CUI: C0221369
Disease: Acquired Camptodactyly
Acquired Camptodactyly
disease Acquired Abnormality 120 1 0.100 None 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 367 10 0.100 None 0
CUI: C1856714
Disease: Palmoplantar cutis laxa
Palmoplantar cutis laxa
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Finding 6 0.100 None 0
CUI: C1956257
Disease: Pulmonary Stenosis
Pulmonary Stenosis
disease Cardiovascular Diseases Disease or Syndrome 106 40 0.100 None 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.100 None 0
CUI: C0038016
Disease: Spondylolisthesis
Spondylolisthesis
disease Musculoskeletal Diseases Disease or Syndrome 28 1 0.100 None 0
CUI: C1836996
Disease: Disproportionate tall stature
Disproportionate tall stature
phenotype Finding 30 17 0.100 None 0
CUI: C0241074
Disease: Hyperextensible skin
Hyperextensible skin
phenotype Finding 50 11 0.100 None 0
CUI: C1835677
Disease: Keratoconus 1
Keratoconus 1
disease Eye Diseases Disease or Syndrome 2 28 0.100 None 0 20
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 140 16 0.100 None 0
CUI: C0685409
Disease: Congenital Camptodactyly
Congenital Camptodactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 123 10 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0