KAT6A, lysine acetyltransferase 6A, 7994

N. diseases: 129; N. variants: 13
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: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		disease Mental or Behavioral Dysfunction 1 12 0.700 strong 1.000 3 12 2015 2019
CUI: C4511003
Disease: Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Acute myeloid leukemia with t(8;16)(p11;p13) translocation 		disease Neoplastic Process 2 0.300 None 1.000 2 2008 2013
CUI: C1275668
Disease: Melanotic medulloblastoma
Melanotic medulloblastoma 		disease Neoplasms Neoplastic Process 43 0.300 None 1.000 1 2009 2009
CUI: C0278876
Disease: Adult Medulloblastoma
Adult Medulloblastoma 		disease Neoplasms Neoplastic Process 762 24 0.300 None 1.000 1 2009 2009
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.300 None 1.000 1 2018 2018
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		disease Neoplasms Neoplastic Process 862 115 0.300 None 1.000 1 2009 2009
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma 		disease Neoplasms Neoplastic Process 325 30 0.300 None 1.000 1 2013 2013
CUI: C0205833
Disease: Medullomyoblastoma
Medullomyoblastoma 		disease Neoplasms Neoplastic Process 43 0.300 None 1.000 1 2009 2009
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma 		disease Neoplasms Neoplastic Process 54 1 0.300 None 1.000 1 2009 2009
CUI: C0278510
Disease: Childhood Medulloblastoma
Childhood Medulloblastoma 		disease Neoplasms Neoplastic Process 771 25 0.300 None 1.000 1 2009 2009
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		group Neoplasms; Male Urogenital Diseases Neoplastic Process 1722 31 0.300 None 1.000 1 2018 2018
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 111 7 0.200 None 1.000 2 2006 2012
CUI: C0023904
Disease: Liver Neoplasms, Experimental
Liver Neoplasms, Experimental 		phenotype Digestive System Diseases; Neoplasms Neoplastic Process; Experimental Model of Disease 152 0.200 None 1.000 1 2007 2007
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.130 None 1.000 3 1 2015 2019
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 0.120 None 1.000 2 2015 2017
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.120 None 1.000 2 2015 2018
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.110 None 1.000 1 2019 2019
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		disease Neoplasms Neoplastic Process 3111 6892 0.100 None 0.939 33 1997 2019
CUI: C0023418
Disease: leukemia
leukemia 		disease Neoplasms Neoplastic Process 2111 144 0.100 None 1.000 10 1997 2017
CUI: C0018916
Disease: Hemangioma
Hemangioma 		disease Neoplasms Neoplastic Process 256 24 0.100 None 1.000 1 1 2015 2015
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		phenotype Finding 123 13 0.100 None 1.000 1 2 2015 2015
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 1.000 1 1 2015 2015
CUI: C1843367
Disease: Poor school performance
Poor school performance 		phenotype Finding 211 411 0.100 None 1.000 1 1 2015 2015
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype Finding 106 20 0.100 None 1.000 1 1 2015 2015
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		phenotype Finding 473 62 0.100 None 1.000 1 1 2015 2015