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: C1835677
Disease: Keratoconus 1
Keratoconus 1 		disease Eye Diseases Disease or Syndrome 2 28 0.100 None 0 20
CUI: C0022410
Disease: Joint Instability
Joint Instability 		phenotype Musculoskeletal Diseases Finding 3 0.300 None 1.000 1 2008 2008
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: C1844597
Disease: Molluscoid pseudotumors
Molluscoid pseudotumors 		disease Disease or Syndrome 5 0.100 None 0
CUI: C4024172
Disease: Abnormality of hair pigmentation
Abnormality of hair pigmentation 		phenotype Finding 5 2 0.100 None 0
CUI: C1096274
Disease: Corneal thinning
Corneal thinning 		disease Disease or Syndrome 6 0.110 None 1.000 1 2012 2012
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: C0238031
Disease: Breast Phyllodes Tumor
Breast Phyllodes Tumor 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C0239803
Disease: Red hair
Red hair 		phenotype Finding 9 1 0.100 None 0
CUI: C3887531
Disease: Keratoglobus
Keratoglobus 		disease Anatomical Abnormality 9 0.100 None 0
CUI: C3826157
Disease: Hypertension in children
Hypertension in children 		disease Disease or Syndrome 12 0.010 None 1.000 1 2012 2012
CUI: C0349702
Disease: Corneal Scar
Corneal Scar 		phenotype Eye Diseases; Nervous System Diseases; Wounds and Injuries Finding 14 0.100 None 0
CUI: C0149893
Disease: Secondary glaucoma
Secondary glaucoma 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 21 2 0.010 None 1.000 1 2018 2018
CUI: C1844592
Disease: Soft skin
Soft skin 		phenotype Finding 22 3 0.100 None 0
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 23 4 0.010 None 1.000 1 2014 2014
CUI: C0856761
Disease: Budd-Chiari Syndrome
Budd-Chiari Syndrome 		disease Digestive System Diseases; Cardiovascular Diseases Disease or Syndrome 24 4 0.010 None 1.000 1 2014 2014
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: C0392163
Disease: Corneal erosion
Corneal erosion 		disease Infections; Eye Diseases Disease or Syndrome 33 1 0.100 None 0
CUI: C0339682
Disease: Regular astigmatism - corneal
Regular astigmatism - corneal 		disease Eye Diseases Disease or Syndrome 34 28 0.010 None 1.000 1 2018 2018
CUI: C0011436
Disease: Dentinogenesis Imperfecta
Dentinogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 35 7 0.100 None 0
CUI: C0267446
Disease: Acute gastroenteritis
Acute gastroenteritis 		disease Digestive System Diseases Disease or Syndrome 36 1 0.010 None 1.000 1 2012 2012
CUI: C3160887
Disease: Node-positive breast cancer
Node-positive breast cancer 		disease Neoplastic Process 40 3 0.010 None 1.000 1 2017 2017
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		phenotype Finding 42 5 0.100 None 0
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 46 9 0.100 None 0