KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 191; N. variants: 19
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: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 7 0.690 1.000 17 7 1993 2018
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome
disease Behavior and Behavior Mechanisms; Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Eye Diseases; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 10 0.650 1.000 13 10 1993 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 0.430 strong 1.000 3 2013 2016
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 306 6 0.400 strong 0
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 60 129 0.310 1.000 1 2011 2011
CUI: C0853193
Disease: Bipolar I disorder
Bipolar I disorder
disease Mental or Behavioral Dysfunction 66 30 0.310 1.000 1 1 2014 2014
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
disease Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 325 94 0.300 1 2009 2009
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease
disease Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 167 70 0.300 1 2009 2009
CUI: C3714758
Disease: Juvenile psoriatic arthritis
Juvenile psoriatic arthritis
disease Immune System Diseases; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 160 70 0.300 1 2009 2009
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.300 0
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.120 1.000 2 2016 2016
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 87 4 0.110 1.000 1 2016 2016
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 8 3 2012 2018
Intellectual disability, progressive
phenotype Finding 43 0.100 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation
group Finding 38 0.100 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype Finding 632 17 0.100 0
CUI: C1848490
Disease: Protruding eyes
Protruding eyes
phenotype Finding 136 0.100 0
Periventricular gray matter heterotopia
disease Disease or Syndrome 9 0.100 0
CUI: C1849358
Disease: Enlarged labia minora
Enlarged labia minora
phenotype Finding 2 0.100 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger
disease Congenital Abnormality 158 2 0.100 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 157 0.100 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair
phenotype Finding 61 1 0.100 0
CUI: C1855751
Disease: Bulbous nasal tip
Bulbous nasal tip
phenotype Finding 82 0.100 0
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline
phenotype Finding 67 1 0.100 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype Finding 84 0.100 0