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: C0001175
Disease: Acquired Immunodeficiency Syndrome
Acquired Immunodeficiency Syndrome 		group Infections; Immune System Diseases Disease or Syndrome 243 42 0.010 None 1.000 1 1996 1996
CUI: C1858517
Disease: SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 10 49 0.010 None 1.000 1 2014 2014
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.010 None 1.000 1 2003 2003
CUI: C3854222
Disease: Human immunodeficiency virus (HIV) II infection category B1
Human immunodeficiency virus (HIV) II infection category B1 		disease Disease or Syndrome 985 56 0.010 None 1.000 1 1996 1996
CUI: C0345964
Disease: Adenoma of lung
Adenoma of lung 		disease Neoplasms Neoplastic Process 30 3 0.010 None 1.000 1 2003 2003
CUI: C0343751
Disease: Asymptomatic human immunodeficiency virus infection
Asymptomatic human immunodeficiency virus infection 		disease Infections; Immune System Diseases Disease or Syndrome 26 0.010 None 1.000 1 1996 1996
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		disease Nervous System Diseases Disease or Syndrome 186 52 0.020 None 1.000 2 2017 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 1.000 1 1 2016 2016
CUI: C0576226
Disease: Short foot
Short foot 		phenotype Finding 116 0.100 None 0
CUI: C0575802
Disease: Small hand
Small hand 		phenotype Finding 108 31 0.100 None 0
CUI: C1837108
Disease: Decreased muscle mass
Decreased muscle mass 		phenotype Finding 65 12 0.100 None 0
CUI: C1842060
Disease: Prominent supraorbital ridges
Prominent supraorbital ridges 		phenotype Finding 41 10 0.100 None 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		phenotype Finding 172 1 0.100 None 0
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		phenotype Finding 65 0.100 None 0
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease Male Urogenital Diseases Congenital Abnormality 217 11 0.100 None 0
CUI: C1848207
Disease: Poor speech
Poor speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet 		phenotype Finding 129 21 0.100 None 0
CUI: C4551560
Disease: Truncal obesity
Truncal obesity 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Finding 38 4 0.100 None 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0
CUI: C3551041
Disease: Short ear
Short ear 		phenotype Finding 2 0.100 None 0
CUI: C3494422
Disease: Retrognathia
Retrognathia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 191 11 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		phenotype Finding 211 25 0.100 None 0
CUI: C1858732
Disease: Malar prominence
Malar prominence 		phenotype Finding 10 0.100 None 0
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0