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: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 1.000 1 1 2015 2015
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
disease Digestive System Diseases Disease or Syndrome 446 52 0.100 None 0
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.010 None 1.000 1 2017 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.010 None 1.000 1 2017 2017
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: C0018916
Disease: Hemangioma
Hemangioma
disease Neoplasms Neoplastic Process 256 24 0.100 None 1.000 1 1 2015 2015
CUI: C0876991
Disease: Histiocytosis haematophagic
Histiocytosis haematophagic
disease Disease or Syndrome 36 2 0.010 None 1.000 1 2007 2007
CUI: C0020295
Disease: Hydronephrosis
Hydronephrosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 253 18 0.100 None 0
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail
phenotype Finding 30 2 0.100 None 0 1
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: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma
disease Neoplasms Neoplastic Process 470 19 0.010 None 1.000 1 1 2018 2018
CUI: C0264303
Disease: Laryngomalacia
Laryngomalacia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 67 18 0.100 None 0
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.100 None 1.000 10 1997 2017
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
disease Neoplasms Neoplastic Process 3111 6892 0.100 None 0.939 33 1997 2019
CUI: C0948976
Disease: Leukemic infiltration of skin
Leukemic infiltration of skin
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6 0.010 None 1.000 1 2017 2017
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25 0.080 None 1.000 8 1997 2014
Leukoencephalopathy, Progressive Multifocal
disease Infections; Nervous System Diseases Disease or Syndrome 240 4 0.010 None 1.000 1 2013 2013
CUI: C0023530
Disease: Leukopenia
Leukopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 440 153 0.010 None 1.000 1 2017 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 5725 942 0.010 None 1.000 1 2014 2014
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: C0239234
Disease: Low set ears
Low set ears
disease Congenital Abnormality 489 64 0.100 None 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears
phenotype Finding 223 19 0.100 None 0
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.010 None 1.000 1 2018 2018
M5b Acute differentiated monocytic leukemia
disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 122 0.060 None 1.000 6 1998 2014
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.020 None 1.000 2 2014 2017