DNASE1, deoxyribonuclease 1, 1773

N. diseases: 180; N. variants: 8
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: C0518179
Disease: Change in voice (finding)
Change in voice (finding) 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 1 0.010 None < 0.001 1 2018 2018
CUI: C1527340
Disease: Voice Disturbance
Voice Disturbance 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.010 None < 0.001 1 2018 2018
CUI: C3280742
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS 16
SYSTEMIC LUPUS ERYTHEMATOSUS 16 		disease Disease or Syndrome 5 0.300 None 1.000 1 2001 2001
CUI: C3862275
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO 		phenotype Finding 5 5 0.100 None 0 2
CUI: C0866588
Disease: lupus erythematodes
lupus erythematodes 		disease Disease or Syndrome 6 0.010 None 1.000 1 2006 2006
CUI: C0730294
Disease: North Carolina macular dystrophy
North Carolina macular dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 10 3 0.010 None 1.000 1 2017 2017
CUI: C0277942
Disease: Butterfly rash
Butterfly rash 		phenotype Skin and Connective Tissue Diseases Finding 13 0.100 None 0
CUI: C4019436
Disease: Antiphospholipid antibody positivity
Antiphospholipid antibody positivity 		phenotype Finding 18 0.100 None 0
CUI: C3274516
Disease: Single Ventricle Defect
Single Ventricle Defect 		disease Congenital Abnormality 20 5 0.010 None 1.000 1 2020 2020
CUI: C0152424
Disease: Common ventricle
Common ventricle 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 22 5 0.010 None 1.000 1 2020 2020
CUI: C0037856
Disease: Spermatic Cord Torsion
Spermatic Cord Torsion 		disease Male Urogenital Diseases Disease or Syndrome 23 0.010 None 1.000 1 2017 2017
CUI: C0205204
Disease: Scab
Scab 		disease Acquired Abnormality 24 0.010 None 1.000 1 2017 2017
CUI: C0948343
Disease: Transfusion-Related Acute Lung Injury
Transfusion-Related Acute Lung Injury 		disease Respiratory Tract Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 24 3 0.010 None 1.000 1 2012 2012
CUI: C1260386
Disease: Glucocorticoid-remediable aldosteronism
Glucocorticoid-remediable aldosteronism 		disease Endocrine System Diseases Disease or Syndrome 30 2 0.010 None 1.000 1 2017 2017
CUI: C0014009
Disease: Empyema
Empyema 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 31 0.010 None 1.000 1 2017 2017
CUI: C0271994
Disease: Hereditary persistence of fetal hemoglobin thalassemia
Hereditary persistence of fetal hemoglobin thalassemia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 35 0.010 None 1.000 1 1990 1990
CUI: C0151480
Disease: Anti-nuclear factor positive
Anti-nuclear factor positive 		phenotype Skin and Connective Tissue Diseases Laboratory or Test Result 35 3 0.100 None 0
CUI: C0024137
Disease: Lupus Erythematosus, Cutaneous
Lupus Erythematosus, Cutaneous 		disease Skin and Connective Tissue Diseases Disease or Syndrome 39 7 0.010 None 1.000 1 2017 2017
CUI: C0265797
Disease: Congenital emphysema
Congenital emphysema 		disease Respiratory Tract Diseases Congenital Abnormality 40 0.010 None 1.000 1 2017 2017
CUI: C0023464
Disease: Acute biphenotypic leukemia
Acute biphenotypic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 45 0.010 None 1.000 1 2006 2006
CUI: C0031046
Disease: Pericarditis
Pericarditis 		disease Cardiovascular Diseases Disease or Syndrome 51 6 0.100 None 0
CUI: C0014118
Disease: Endocarditis
Endocarditis 		disease Cardiovascular Diseases Disease or Syndrome 56 0.010 None 1.000 1 2019 2019
CUI: C1701940
Disease: Pneumonia, Ventilator-Associated
Pneumonia, Ventilator-Associated 		disease Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract Diseases Disease or Syndrome 56 3 0.010 None 1.000 1 2017 2017
CUI: C1858991
Disease: Childhood Ataxia with Central Nervous System Hypomyelinization
Childhood Ataxia with Central Nervous System Hypomyelinization 		disease Nervous System Diseases Disease or Syndrome 59 63 0.010 None 1.000 1 2017 2017
CUI: C0242380
Disease: Libman-Sacks Disease
Libman-Sacks Disease 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 59 0.300 None 0