DAXX, death domain associated protein, 1616

N. diseases: 137; N. variants: 2
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.030 None 1.000 3 2016 2019
CUI: C2745900
Disease: Promyelocytic leukemia
Promyelocytic leukemia 		disease Neoplastic Process 255 2 0.020 None 1.000 2 2014 2018
CUI: C0375024
Disease: Hantavirus infection in conditions classified elsewhere and of unspecified site
Hantavirus infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 21 1 0.010 None 1.000 1 2013 2013
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 2015 2015
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		disease Neoplastic Process 3669 502 0.010 None 1.000 1 2019 2019
CUI: C0877243
Disease: Increased serum serotonin
Increased serum serotonin 		phenotype Finding 8 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE 		phenotype Finding 64 0.100 None 0
CUI: C4021740
Disease: Increased circulating ACTH level
Increased circulating ACTH level 		phenotype Finding 12 0.100 None 0
CUI: C4022606
Disease: Lack of bowel sounds
Lack of bowel sounds 		phenotype Finding 3 0.100 None 0
CUI: C4025812
Disease: Dermatological manifestations of systemic disorders
Dermatological manifestations of systemic disorders 		phenotype Finding 3 0.100 None 0
CUI: C4072942
Disease: Atypical pulmonary carcinoid tumor
Atypical pulmonary carcinoid tumor 		disease Neoplastic Process 3 0.100 None 0
CUI: C4531035
Disease: Abnormal pulmonary valve cusp morphology
Abnormal pulmonary valve cusp morphology 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C0206064
Disease: Microvascular Angina
Microvascular Angina 		disease Cardiovascular Diseases Disease or Syndrome 39 10 0.020 None 1.000 2 1 2012 2018
CUI: C0020649
Disease: Hypotension
Hypotension 		phenotype Cardiovascular Diseases Finding 125 2 0.100 None 0
CUI: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency 		disease Cardiovascular Diseases Disease or Syndrome 60 5 0.100 None 0
CUI: C0235527
Disease: Heart Failure, Right-Sided
Heart Failure, Right-Sided 		disease Cardiovascular Diseases Disease or Syndrome 154 0.100 None 0
CUI: C0858684
Disease: Facial telangiectasia
Facial telangiectasia 		phenotype Cardiovascular Diseases Finding 6 0.100 None 0
CUI: C2939447
Disease: Right ventricular failure
Right ventricular failure 		disease Cardiovascular Diseases Disease or Syndrome 28 0.100 None 0
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 86 37 0.020 None 1.000 2 2016 2019
CUI: C1456873
Disease: alpha^+^ Thalassemia
alpha^+^ Thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 92 16 0.020 None 1.000 2 2016 2019
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases Neoplastic Process 145 156 0.020 None 1.000 2 2013 2018
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 141 13 0.010 None 1.000 1 2015 2015
CUI: C1845055
Disease: ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 32 0.100 None 1.000 17 2011 2019
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.010 None 1.000 1 2018 2018