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: C1856019
Disease: Abnormal cortical gyration
Abnormal cortical gyration
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Finding 17 12 0.100 None 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology
disease Anatomical Abnormality 19 1 0.100 None 0
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology
phenotype Anatomical Abnormality 104 131 0.100 None 1.000 2 1 2008 2014
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel
group Anatomical Abnormality 96 4 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation
phenotype Finding 215 5 0.100 None 0
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum
group Nervous System Diseases Finding 55 11 0.100 None 0
CUI: C4025763
Disease: Abnormality of the rib cage
Abnormality of the rib cage
disease Anatomical Abnormality 16 0.100 None 0
CUI: C2674738
Disease: Abnormality of toe
Abnormality of toe
group Musculoskeletal Diseases Anatomical Abnormality 6 1 0.100 None 0
CUI: C4021814
Disease: Accessory oral frenulum
Accessory oral frenulum
disease Anatomical Abnormality 12 0.100 None 0
CUI: C0151860
Disease: Acquired porencephaly
Acquired porencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 34 3 0.100 None 0
CUI: C0000846
Disease: Agenesis
Agenesis
disease Congenital Abnormality 161 44 0.010 None 1.000 1 2019 2019
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.100 None 0
CUI: C0002170
Disease: Alopecia
Alopecia
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 491 375 0.100 None 0
CUI: C1865598
Disease: Alveolar ridge overgrowth
Alveolar ridge overgrowth
phenotype Finding 5 1 0.100 None 0
CUI: C1290511
Disease: Anodontia of Permanent Dentition
Anodontia of Permanent Dentition
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality 12 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
Aplasia/Hypoplasia of the corpus callosum
phenotype Finding 108 8 0.100 None 0
CUI: C0003578
Disease: Apnea
Apnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.100 None 0
CUI: C0078981
Disease: Arachnoid Cysts
Arachnoid Cysts
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome 31 6 0.100 None 0
CUI: C0403823
Disease: Asthenozoospermia
Asthenozoospermia
disease Male Urogenital Diseases Disease or Syndrome 164 17 0.100 None 0
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0004144
Disease: Atelectasis
Atelectasis
phenotype Respiratory Tract Diseases Pathologic Function 62 2 0.100 None 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 101 1 0.100 None 0
CUI: C2936864
Disease: Bardet-Biedl syndrome 4 (disorder)
Bardet-Biedl syndrome 4 (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 9 0.010 None 1.000 1 2014 2014