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: C1863878
Disease: Arhinia, choanal atresia, and microphthalmia
Arhinia, choanal atresia, and microphthalmia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 3 18 0.010 None 1.000 1 2018 2018
CUI: C0231451
Disease: Hyperextension
Hyperextension 		phenotype Sign or Symptom 4 0.010 None 1.000 1 2019 2019
CUI: C1834671
Disease: FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 14 0.010 None 1.000 1 2013 2013
CUI: C1834673
Disease: Facioscapulohumeral muscular dystrophy 1a
Facioscapulohumeral muscular dystrophy 1a 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 1 0.010 None 1.000 1 2015 2015
CUI: C0236075
Disease: Menopausal symptom
Menopausal symptom 		phenotype Sign or Symptom 17 4 0.010 None 1.000 1 2018 2018
CUI: C0039147
Disease: Syrinx formation
Syrinx formation 		disease Anatomical Abnormality 18 0.010 None 1.000 1 2019 2019
CUI: C0154832
Disease: Exudative retinopathy
Exudative retinopathy 		disease Eye Diseases; Cardiovascular Diseases Disease or Syndrome 23 6 0.010 None 1.000 1 2013 2013
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 28 3 0.020 None 1.000 2 2014 2017
CUI: C0039144
Disease: Syringomyelia
Syringomyelia 		disease Nervous System Diseases Disease or Syndrome 35 4 0.010 None 1.000 1 2019 2019
CUI: C0035067
Disease: Renal Artery Stenosis
Renal Artery Stenosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 37 8 0.010 None 1.000 1 2017 2017
CUI: C0750929
Disease: Arnold-Chiari Malformation, Type I
Arnold-Chiari Malformation, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 41 1 0.010 None 1.000 1 2019 2019
CUI: C1739395
Disease: Takotsubo Cardiomyopathy
Takotsubo Cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 44 3 0.010 None 1.000 1 2018 2018
CUI: C0016052
Disease: Fibromuscular Dysplasia
Fibromuscular Dysplasia 		disease Cardiovascular Diseases Disease or Syndrome 47 3 0.040 None 1.000 4 2014 2018
CUI: C0016514
Disease: Foot-and-Mouth Disease
Foot-and-Mouth Disease 		group Infections; Animal Diseases Disease or Syndrome 56 0.050 None 1.000 5 2017 2019
CUI: C0042749
Disease: Viremia
Viremia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 56 3 0.010 None 1.000 1 2006 2006
CUI: C0020452
Disease: Hyperemia
Hyperemia 		disease Cardiovascular Diseases Disease or Syndrome 64 3 0.050 None 1.000 5 2007 2019
CUI: C0031030
Disease: Periapical Periodontitis
Periapical Periodontitis 		disease Stomatognathic Diseases Disease or Syndrome 90 5 0.010 None 1.000 1 2019 2019
CUI: C0000833
Disease: Abscess
Abscess 		phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 96 1 0.010 None 1.000 1 2018 2018
CUI: C0852949
Disease: Arteriopathic disease
Arteriopathic disease 		group Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 101 14 0.010 None 1.000 1 2017 2017
CUI: C0151514
Disease: Atrophic condition of skin
Atrophic condition of skin 		group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 111 4 0.010 None 1.000 1 2018 2018
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 3 0.100 None 1.000 27 1989 2019
CUI: C0553694
Disease: Oropharyngeal disorders
Oropharyngeal disorders 		group Digestive System Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 163 3 0.010 None 1.000 1 2018 2018
CUI: C0917801
Disease: Sleeplessness
Sleeplessness 		phenotype Nervous System Diseases; Mental Disorders Sign or Symptom 174 30 0.010 None 1.000 1 2018 2018
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		disease Male Urogenital Diseases; Mental Disorders Disease or Syndrome 256 44 0.010 None < 0.001 1 2019 2019
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.040 None 1.000 4 1999 2019