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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 246 0.100 None 0 1
CUI: C0220726
Disease: Diastrophic dysplasia
Diastrophic dysplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 56 63 0.100 None 0 1
CUI: C0796074
Disease: MOHR-TRANEBJAERG SYNDROME
MOHR-TRANEBJAERG SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 89 19 0.100 None 0 1
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 57 21 0.100 None 0 1
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.100 None 0 1
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0 1
CUI: C3549567
Disease: Echogenic kidneys
Echogenic kidneys 		phenotype Finding 3 2 0.100 None 0 1
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases Disease or Syndrome 95 187 0.100 None 0 1
CUI: C0006849
Disease: Oral candidiasis
Oral candidiasis 		disease Infections; Stomatognathic Diseases Disease or Syndrome 58 2 0.020 None 1.000 2 1999 2019
CUI: C0700345
Disease: Candidiasis, Vulvovaginal
Candidiasis, Vulvovaginal 		disease Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 57 1 0.020 None 1.000 2 2003 2007
CUI: C0919659
Disease: Oropharyngeal candidiasis
Oropharyngeal candidiasis 		disease Infections Disease or Syndrome 27 3 0.010 None 1.000 1 2019 2019
CUI: C1609535
Disease: Invasive Candidiasis
Invasive Candidiasis 		disease Infections Disease or Syndrome 20 0.010 None 1.000 1 2010 2010
CUI: C3714731
Disease: Early childhood caries
Early childhood caries 		disease Stomatognathic Diseases Disease or Syndrome 30 8 0.010 None 1.000 1 2018 2018
CUI: C0404521
Disease: Infective vaginitis
Infective vaginitis 		disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 18 0.010 None 1.000 1 2003 2003
CUI: C0243026
Disease: Sepsis
Sepsis 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 1453 144 0.010 None 1.000 1 1996 1996
CUI: C0153252
Disease: Systemic candidiasis
Systemic candidiasis 		disease Infections Disease or Syndrome 73 0.010 None 1.000 1 2010 2010
CUI: C0019693
Disease: HIV Infections
HIV Infections 		group Infections; Immune System Diseases Disease or Syndrome 807 142 0.010 None 1.000 1 1996 1996
CUI: C0015652
Disease: Fascioliasis
Fascioliasis 		disease Digestive System Diseases; Infections Disease or Syndrome 24 0.010 None 1.000 1 2018 2018
CUI: C0006852
Disease: Candidiasis of vagina
Candidiasis of vagina 		disease Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 20 0.010 None 1.000 1 2003 2003
CUI: C0006846
Disease: Cutaneous Candidiasis
Cutaneous Candidiasis 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 9 2 0.010 None 1.000 1 2000 2000
CUI: C0006840
Disease: Candidiasis
Candidiasis 		disease Infections Disease or Syndrome 95 8 0.010 None 1.000 1 2018 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.010 None < 0.001 1 2019 2019