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: C1853573
Disease: Hypoplastic inferior pubic rami
Hypoplastic inferior pubic rami 		phenotype Finding 1 0.100 None 0
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 2 13 0.790 strong 1.000 11 13 2011 2019
CUI: C1836123
Disease: Goldberg-Shprintzen megacolon syndrome
Goldberg-Shprintzen megacolon syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases Disease or Syndrome 2 1 0.010 None < 0.001 1 2014 2014
CUI: C1849358
Disease: Enlarged labia minora
Enlarged labia minora 		phenotype Finding 2 0.100 None 0
CUI: C4025324
Disease: Abnormality of the cheek
Abnormality of the cheek 		disease Congenital Abnormality 2 0.100 None 0
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 3 10 0.800 None 1.000 16 10 2011 2019
CUI: C0796094
Disease: Blepharophimosis syndrome Ohdo type
Blepharophimosis syndrome Ohdo type 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome 3 0.050 None 0.800 5 2011 2014
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 3 46 0.100 None 0 1
CUI: C4021771
Disease: Short distal phalanx of toe
Short distal phalanx of toe 		disease Anatomical Abnormality 4 1 0.100 None 0 1
CUI: C1299493
Disease: Developmental failure of fusion
Developmental failure of fusion 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 5 0.010 None 1.000 1 2017 2017
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: C2861614
Disease: AML M5b
AML M5b 		disease Neoplastic Process 6 0.010 None 1.000 1 2003 2003
CUI: C0266283
Disease: Ectopic thyroid tissue (disorder)
Ectopic thyroid tissue (disorder) 		phenotype Disease or Syndrome 8 1 0.100 None 0
CUI: C1303003
Disease: Epicanthus inversus
Epicanthus inversus 		phenotype Finding 9 1 0.100 None 0
CUI: C0332915
Disease: Congenital failure of fusion
Congenital failure of fusion 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 11 0.010 None 1.000 1 2017 2017
CUI: C0749420
Disease: Thyroid Agenesis
Thyroid Agenesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 11 3 0.100 None 0
CUI: C0151516
Disease: Thyroid Hypoplasia
Thyroid Hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Disease or Syndrome 14 6 0.100 None 0
CUI: C1859447
Disease: Hypoplastic ischia
Hypoplastic ischia 		phenotype Finding 14 0.100 None 0
CUI: C1861218
Disease: Hypoplastic ilia
Hypoplastic ilia 		phenotype Finding 16 0.100 None 0
CUI: C4023385
Disease: Aplasia of the semicircular canal
Aplasia of the semicircular canal 		disease Anatomical Abnormality 16 1 0.100 None 0
CUI: C0431384
Disease: Colpocephaly
Colpocephaly 		disease Nervous System Diseases Congenital Abnormality 17 2 0.100 None 0
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 17 3 0.100 None 0
CUI: C4021395
Disease: Abnormality of the antihelix
Abnormality of the antihelix 		disease Anatomical Abnormality 17 0.100 None 0
CUI: C0855740
Disease: Abnormal platelet function
Abnormal platelet function 		phenotype Finding 21 2 0.100 None 0