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: C0477597
Disease: Necrotising vasculopathy
Necrotising vasculopathy 		disease Cardiovascular Diseases Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
CUI: C0521161
Disease: Vasculitic rash
Vasculitic rash 		phenotype Cardiovascular Diseases Sign or Symptom 1 0.010 None 1.000 1 2019 2019
CUI: C4072895
Disease: Urticarial plaque
Urticarial plaque 		phenotype Finding 1 0.100 None 0
CUI: C0343190
Disease: Cutaneous polyarteritis nodosa
Cutaneous polyarteritis nodosa 		disease Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 2 1 0.030 None 1.000 3 1 2015 2019
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: C4040879
Disease: STING-associated vasculopathy with onset in infancy
STING-associated vasculopathy with onset in infancy 		disease Disease or Syndrome 4 1 0.010 None 1.000 1 2019 2019
CUI: C0085642
Disease: Livedo Reticularis
Livedo Reticularis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2018 2018
CUI: C3665926
Disease: Myopic choroidal neovascularization
Myopic choroidal neovascularization 		disease Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 12 13 0.300 strong 1.000 1 2018 2018
CUI: C0272126
Disease: Evans syndrome
Evans syndrome 		disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 13 0.300 strong 1.000 1 2018 2018
CUI: C1112433
Disease: Thromboembolic stroke
Thromboembolic stroke 		disease Cardiovascular Diseases Disease or Syndrome 13 1 0.100 None 0
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Musculoskeletal Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 15 6 0.010 None 1.000 1 2019 2019
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 16 5 0.300 None 1.000 1 2018 2018
CUI: C0038449
Disease: Stricture of artery
Stricture of artery 		phenotype Cardiovascular Diseases Pathologic Function 16 0.100 None 0
CUI: C0268124
Disease: Adenosine deaminase deficiency
Adenosine deaminase deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases Disease or Syndrome 17 2 0.040 None 1.000 4 2018 2020
CUI: C4019436
Disease: Antiphospholipid antibody positivity
Antiphospholipid antibody positivity 		phenotype Finding 18 0.100 None 0
CUI: C0342731
Disease: Deficiency of mevalonate kinase
Deficiency of mevalonate kinase 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 20 23 0.010 None 1.000 1 2019 2019
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 25 7 0.010 None 1.000 1 2019 2019
CUI: C0265493
Disease: Cat eye syndrome
Cat eye syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 32 6 0.030 None 1.000 3 2000 2013
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 34 16 0.010 None 1.000 1 2019 2019
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 36 4 0.100 None 0
CUI: C0030326
Disease: Panniculitis
Panniculitis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 37 2 0.100 None 0
CUI: C1285654
Disease: Memory performance
Memory performance 		phenotype Mental Process 40 71 0.100 None 1.000 1 1 2015 2015
CUI: C0151699
Disease: Intracranial Hemorrhage
Intracranial Hemorrhage 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 40 2 0.100 None 0
CUI: C0018991
Disease: Hemiplegia
Hemiplegia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 41 6 0.100 None 0