KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 208; 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: C0024636
Disease: Malocclusion
Malocclusion 		disease Stomatognathic Diseases Anatomical Abnormality 128 10 0.020 None 1.000 2 2013 2014
CUI: C0266061
Disease: Open Bite
Open Bite 		phenotype Stomatognathic Diseases Congenital Abnormality 38 0.010 None 1.000 1 2013 2013
CUI: C3714535
Disease: Malocclusion, Angle class II
Malocclusion, Angle class II 		disease Stomatognathic Diseases Anatomical Abnormality 5 1 0.010 None 1.000 1 2013 2013
CUI: C3874346
Disease: Skeletal malocclusion
Skeletal malocclusion 		disease Stomatognathic Diseases Anatomical Abnormality 5 3 0.010 None 1.000 1 2013 2013
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 171 41 0.300 None 1.000 1 2009 2009
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 450 128 0.300 None 1.000 1 2009 2009
CUI: C3714758
Disease: Juvenile psoriatic arthritis
Juvenile psoriatic arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 138 0.300 None 1.000 1 2009 2009
CUI: C4552091
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Negative
Polyarthritis, Juvenile, Rheumatoid Factor Negative 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 131 0.300 None 1.000 1 2009 2009
CUI: C4704862
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Positive
Polyarthritis, Juvenile, Rheumatoid Factor Positive 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 131 0.300 None 1.000 1 2009 2009
CUI: C0003578
Disease: Apnea
Apnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.100 None 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.140 None 1.000 4 2013 2019
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.010 None 1.000 1 2018 2018
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.100 None 0
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 393 2 0.100 None 0
CUI: C1846149
Disease: Intellectual disability, progressive
Intellectual disability, progressive 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Finding 45 1 0.100 None 0
CUI: C0424230
Disease: Motor retardation
Motor retardation 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Finding 98 8 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 1.000 1 1 2016 2016
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction 487 54 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0 1
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis 		disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25 0.010 None 1.000 1 2003 2003
CUI: C0598935
Disease: Tumor Initiation
Tumor Initiation 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 533 8 0.010 None 1.000 1 2013 2013