ADA2, adenosine deaminase 2, 51816

N. diseases: 165; N. variants: 22
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: C3887875
Disease: Visual field defects
Visual field defects
group Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 47 1 0.100 None 0
CUI: C0042571
Disease: Vertigo
Vertigo
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 173 35 0.100 None 0
CUI: C0042384
Disease: Vasculitis
Vasculitis
disease Cardiovascular Diseases Disease or Syndrome 294 24 0.200 None 1.000 11 2014 2020
CUI: C0521161
Disease: Vasculitic rash
Vasculitic rash
phenotype Cardiovascular Diseases Sign or Symptom 1 0.010 None 1.000 1 2019 2019
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases
group Cardiovascular Diseases Disease or Syndrome 688 40 0.050 None 1.000 5 2014 2019
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma
disease Neoplasms; Eye Diseases Neoplastic Process 376 22 0.010 None 1.000 1 2017 2017
CUI: C4072895
Disease: Urticarial plaque
Urticarial plaque
phenotype Finding 1 0.100 None 0
CUI: C1519678
Disease: Tumor Expansion
Tumor Expansion
phenotype Neoplastic Process 46 0.010 None 1.000 1 2017 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2010 2010
CUI: C1519670
Disease: Tumor Angiogenesis
Tumor Angiogenesis
phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 822 5 0.010 None 1.000 1 2017 2017
CUI: C0040822
Disease: Tremor
Tremor
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 0
CUI: C1112433
Disease: Thromboembolic stroke
Thromboembolic stroke
disease Cardiovascular Diseases Disease or Syndrome 13 1 0.100 None 0
CUI: C0836924
Disease: Thrombocytosis
Thrombocytosis
disease Hemic and Lymphatic Diseases Disease or Syndrome 93 12 0.100 None 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion
phenotype Finding 145 10 0.100 None 0
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 136 55 0.010 None 1.000 1 2015 2015
Systemic onset juvenile chronic arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 90 53 0.010 None 1.000 1 2020 2020
CUI: C0038449
Disease: Stricture of artery
Stricture of artery
phenotype Cardiovascular Diseases Pathologic Function 16 0.100 None 0
STING-associated vasculopathy with onset in infancy
disease Disease or Syndrome 4 1 0.010 None 1.000 1 2019 2019
CUI: C0038002
Disease: Splenomegaly
Splenomegaly
phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0 1
CUI: C0282492
Disease: Sneddon Syndrome
Sneddon Syndrome
disease Skin and Connective Tissue Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 3 2 0.710 moderate 1.000 4 2 1986 2018
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose
phenotype Finding 265 23 0.100 None 0
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.010 None 1.000 1 2006 2006