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.
Abnormal pulmonary valve cusp morphology
phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C0426636
Disease: Urgent desire for stool
Urgent desire for stool
phenotype Digestive System Diseases Sign or Symptom 3 0.100 None 0
CUI: C4022606
Disease: Lack of bowel sounds
Lack of bowel sounds
phenotype Finding 3 0.100 None 0
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: C0036980
Disease: Shock, Cardiogenic
Shock, Cardiogenic
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 6 0.100 None 0
CUI: C0858684
Disease: Facial telangiectasia
Facial telangiectasia
phenotype Cardiovascular Diseases Finding 6 0.100 None 0
CUI: C0877243
Disease: Increased serum serotonin
Increased serum serotonin
phenotype Finding 8 0.100 None 0
Chronic noninfectious lymphadenopathy
phenotype Hemic and Lymphatic Diseases Finding 12 0.100 None 0
CUI: C4021740
Disease: Increased circulating ACTH level
Increased circulating ACTH level
phenotype Finding 12 0.100 None 0
CUI: C0018926
Disease: Hematemesis
Hematemesis
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Sign or Symptom 14 1 0.100 None 0
CUI: C0473133
Disease: Protracted diarrhea
Protracted diarrhea
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 14 0.100 None 0
CUI: C0025222
Disease: Melena
Melena
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 15 1 0.100 None 0
CUI: C0239181
Disease: Intermittent diarrhea
Intermittent diarrhea
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 17 0.100 None 0
CUI: C0043515
Disease: Zollinger-Ellison syndrome
Zollinger-Ellison syndrome
disease Digestive System Diseases; Neoplasms Disease or Syndrome 20 0.100 None 0
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: C0017689
Disease: Glucagonoma
Glucagonoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 23 1 0.010 None 1.000 1 2018 2018
CUI: C2939447
Disease: Right ventricular failure
Right ventricular failure
disease Cardiovascular Diseases Disease or Syndrome 28 0.100 None 0
CUI: C0006266
Disease: Bronchospasm
Bronchospasm
disease Respiratory Tract Diseases Disease or Syndrome 29 0.100 None 0
CUI: C1328479
Disease: Pancreatic Endocrine Carcinoma
Pancreatic Endocrine Carcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 29 0.300 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: C3808022
Disease: Episodic abdominal pain
Episodic abdominal pain
phenotype Pathological Conditions, Signs and Symptoms Finding 39 3 0.100 None 0
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: C0040961
Disease: Tricuspid Valve Insufficiency
Tricuspid Valve Insufficiency
disease Cardiovascular Diseases Disease or Syndrome 60 5 0.100 None 0
CUI: C1839780
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME
FRAGILE X TREMOR/ATAXIA SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 62 0.010 None 1.000 1 2014 2014