KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 26; N. variants: 25
Source: CLINVAR ×
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 Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 10 0.800 None 1.000 3 10 2011 2019
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 1 13 0.790 strong 1.000 2 13 2011 2019
CUI: C0005744
Disease: Blepharophimosis
Blepharophimosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 8 15 0.130 None 1.000 1 2 2014 2016
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 303 505 0.120 None 1.000 1 1 2016 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 237 350 0.100 None 1.000 8 1 2011 2018
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 25 28 0.100 None 1.000 1 1 2016 2016
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype Finding 12 13 0.100 None 1.000 1 2 2016 2016
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 23 33 0.100 None 1.000 1 1 2016 2016
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 35 47 0.100 None 1.000 1 2 2016 2016
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 128 164 0.100 None 1.000 1 1 2016 2016
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 28 39 0.100 None 1.000 1 1 2016 2016
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 20 23 0.100 None 0 1
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 0 2
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		disease Congenital Abnormality 29 30 0.100 None 0 1
CUI: C0575157
Disease: Deformity of spine
Deformity of spine 		disease Anatomical Abnormality 2 2 0.100 None 0 1
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 9 9 0.100 None 0 1
CUI: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		phenotype Finding 16 19 0.100 None 0 1
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 34 0.100 None 0 1
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 63 77 0.100 None 0 1
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 15 16 0.100 None 0 1
CUI: C0220687
Disease: KBG syndrome
KBG syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 2 46 0.100 None 0 1
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		disease Congenital Abnormality 5 5 0.100 None 0 1
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 5 6 0.100 None 0 1
CUI: C0423113
Disease: Telecanthus
Telecanthus 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 14 14 0.100 None 0 1
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 88 106 0.100 None 0 2