YY1AP1, YY1 associated protein 1, 55249

N. diseases: 100; 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.
Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 5 0.600 4 5 1998 2017
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.110 1.000 1 2009 2009
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 4064 159 0.100 1.000 19 2002 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.100 0
CUI: C0039075
Disease: Syndactyly
Syndactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 84 11 0.100 0
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile
phenotype Finding 37 6 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C1843108
Disease: Short palm
Short palm
phenotype Finding 89 1 0.100 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.100 0
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 203 6 0.100 0
Varying degree of multiple fractures
phenotype Finding 71 0.100 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.100 0
CUI: C0035067
Disease: Renal Artery Stenosis
Renal Artery Stenosis
disease Cardiovascular Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 21 0.100 0
Increased susceptibility to fractures
phenotype Finding 26 1 0.100 0
CUI: C0041667
Disease: Underweight
Underweight
phenotype Pathological Conditions, Signs and Symptoms Finding 33 0.100 0
CUI: C0038449
Disease: Stricture of artery
Stricture of artery
phenotype Pathologic Function 8 0.100 0
CUI: C0020545
Disease: Hypertension, Renovascular
Hypertension, Renovascular
disease Cardiovascular Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 46 2 0.100 0
CUI: C1262477
Disease: Weight decreased
Weight decreased
phenotype Pathological Conditions, Signs and Symptoms Finding 160 0.100 0
Borderline mental retardation (I.Q. 70-85)
disease Mental or Behavioral Dysfunction 6 0.100 0
CUI: C0497247
Disease: Increase in blood pressure
Increase in blood pressure
phenotype Finding 173 14 0.100 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
phenotype Finding 946 0.100 0
CUI: C3806283
Disease: Frequent fractures
Frequent fractures
phenotype Finding 71 0.100 0
CUI: C3805574
Disease: Increased fracture rate
Increased fracture rate
phenotype Finding 71 0.100 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability
disease Mental or Behavioral Dysfunction 102 3 0.100 0
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency
disease Cardiovascular Diseases Disease or Syndrome 213 5 0.100 0