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: C3826634
Disease: Bronchitis in children
Bronchitis in children 		disease Disease or Syndrome 4 0.010 None 1.000 1 2016 2016
CUI: C0043345
Disease: Xeroderma
Xeroderma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 7 1 0.020 None 1.000 2 1 2005 2007
CUI: C0024624
Disease: Malignant neoplasm of upper lobe, bronchus or lung
Malignant neoplasm of upper lobe, bronchus or lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 7 0.200 None 1.000 1 2005 2005
CUI: C0153491
Disease: Malignant neoplasm of middle lobe, bronchus or lung
Malignant neoplasm of middle lobe, bronchus or lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 7 0.200 None 1.000 1 2005 2005
CUI: C0153492
Disease: Malignant neoplasm of lower lobe, bronchus or lung
Malignant neoplasm of lower lobe, bronchus or lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 7 0.200 None 1.000 1 2005 2005
CUI: C0153493
Disease: Malignant neoplasm of other parts of bronchus or lung
Malignant neoplasm of other parts of bronchus or lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 7 0.200 None 1.000 1 2005 2005
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 8 31 0.010 None 1.000 1 2 2019 2019
CUI: C4023759
Disease: Flat nasal alae
Flat nasal alae 		phenotype Finding 8 0.100 None 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		phenotype Finding 12 0.100 None 0
CUI: C0750905
Disease: Amino Acid Metabolism, Inherited Disorders
Amino Acid Metabolism, Inherited Disorders 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 13 0.300 None 1.000 1 1998 1998
CUI: C0004403
Disease: Autosome Abnormalities
Autosome Abnormalities 		group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 None 1.000 1 2010 2010
CUI: C0008625
Disease: Chromosome Aberrations
Chromosome Aberrations 		group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 None 1.000 1 2010 2010
CUI: C0014390
Disease: Entropion
Entropion 		disease Eye Diseases Disease or Syndrome 18 1 0.100 None 0
CUI: C0152233
Disease: Congenital ankyloblepharon
Congenital ankyloblepharon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 18 0.100 None 0
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality 18 0.100 None 0
CUI: C0002514
Disease: Amino Acid Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 20 0.300 None 1.000 1 1998 1998
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		disease Disease or Syndrome 20 1 0.100 None 0
CUI: C0392777
Disease: Poikiloderma
Poikiloderma 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 20 2 0.100 None 0
CUI: C0406557
Disease: Poikiloderma of Kindler
Poikiloderma of Kindler 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases Disease or Syndrome 21 25 0.010 None 1.000 1 2019 2019
CUI: C0015414
Disease: Eye Neoplasms
Eye Neoplasms 		group Neoplasms; Eye Diseases Neoplastic Process 24 0.100 None 0
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis 		phenotype Finding 25 0.100 None 0
CUI: C1449861
Disease: Micronuclei, Chromosome-Defective
Micronuclei, Chromosome-Defective 		phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 1 2011 2011
CUI: C1449862
Disease: Micronuclei, Genotoxicant-Induced
Micronuclei, Genotoxicant-Induced 		phenotype Pathological Conditions, Signs and Symptoms Cell Component 26 0.300 None 1.000 1 2011 2011
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 33 15 0.030 None 1.000 3 2003 2008
CUI: C0206750
Disease: Coronavirus Infections
Coronavirus Infections 		group Infections Disease or Syndrome 33 0.010 None 1.000 1 2011 2011