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: C0007939
Disease: Syphilitic chancre
Syphilitic chancre 		phenotype Infections Sign or Symptom 1 0.010 None 1.000 1 2018 2018
CUI: C2931317
Disease: Primary syphilis
Primary syphilis 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C4305072
Disease: X-linked intellectual disability Van Esch type
X-linked intellectual disability Van Esch type 		phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 5 0.100 None 1.000 1 5 2019 2019
CUI: C0751575
Disease: Paralysis, Unilateral, Vocal Cord
Paralysis, Unilateral, Vocal Cord 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 1 0.100 None 0
CUI: C4024836
Disease: Generalized reticulate brown pigmentation
Generalized reticulate brown pigmentation 		phenotype Finding 1 0.100 None 0
CUI: C0348148
Disease: Early syphilis, unspecified
Early syphilis, unspecified 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 4 0.010 None 1.000 1 2015 2015
CUI: C0037020
Disease: Shyness
Shyness 		phenotype Behavior and Behavior Mechanisms Social Behavior 9 0.100 None 0
CUI: C0796250
Disease: PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 1 0.300 None 1.000 1 2016 2016
CUI: C0242855
Disease: Congenital atresia of pulmonary valve
Congenital atresia of pulmonary valve 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 11 3 0.100 None 0
CUI: C1856121
Disease: Broad eyebrow
Broad eyebrow 		phenotype Finding 11 4 0.100 None 0
CUI: C0349702
Disease: Corneal Scar
Corneal Scar 		phenotype Eye Diseases; Nervous System Diseases; Wounds and Injuries Finding 14 0.100 None 0
CUI: C1854495
Disease: Recurrent infection of the gastrointestinal tract
Recurrent infection of the gastrointestinal tract 		phenotype Finding 16 0.100 None 0
CUI: C0280790
Disease: Adult Anaplastic Oligodendroglioma
Adult Anaplastic Oligodendroglioma 		disease Neoplasms Neoplastic Process 29 4 0.010 None 1.000 1 2018 2018
CUI: C1332943
Disease: Childhood Anaplastic Oligodendroglioma
Childhood Anaplastic Oligodendroglioma 		disease Neoplasms Neoplastic Process 29 4 0.010 None 1.000 1 2018 2018
CUI: C1862265
Disease: Increased circulating gonadotropin level
Increased circulating gonadotropin level 		phenotype Nervous System Diseases; Endocrine System Diseases Finding 34 0.100 None 0
CUI: C0410174
Disease: Fukuyama Type Congenital Muscular Dystrophy
Fukuyama Type Congenital Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 35 29 0.010 None 1.000 1 2002 2002
CUI: C0238397
Disease: Pulmonary artery stenosis
Pulmonary artery stenosis 		disease Cardiovascular Diseases Anatomical Abnormality 36 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
CUI: C0041974
Disease: Urethral Stenosis
Urethral Stenosis 		phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 41 1 0.100 None 0
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		phenotype Eye Diseases Finding 46 0.100 None 0
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder 		disease Disease or Syndrome 60 4 0.300 strong 1.000 1 2016 2016
CUI: C0694550
Disease: Recurrent pneumonia
Recurrent pneumonia 		disease Infections; Respiratory Tract Diseases Finding 62 11 0.100 None 0
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma 		disease Neoplasms Neoplastic Process 66 7 0.020 None 1.000 2 2018 2019
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 1 0.100 None 0
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 76 6 0.100 None 0