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: C0796037
Disease: Martsolf syndrome
Martsolf syndrome
disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 6 3 0.740 strong 1.000 6 2 2006 2018
CUI: C1838625
Disease: Warburg Sjo Fledelius syndrome
Warburg Sjo Fledelius syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 16 22 0.650 strong 1.000 6 2006 2018
CUI: C3280214
Disease: WARBURG MICRO SYNDROME 2
WARBURG MICRO SYNDROME 2
disease Disease or Syndrome 1 7 0.400 None 1.000 4 7 2006 2014
CUI: C0037772
Disease: Spastic Paraplegia
Spastic Paraplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 144 93 0.300 limited 1.000 1 2014 2014
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 340 56 0.110 None 1.000 1 2006 2006
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.110 None 1.000 1 2013 2013
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2011 2011
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 6 1 2006 2014
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger
phenotype Finding 41 1 0.100 None 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline
phenotype Finding 71 17 0.100 None 0
CUI: C1843108
Disease: Short palm
Short palm
phenotype Finding 110 13 0.100 None 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia
phenotype Finding 30 0.100 None 0
Intellectual disability, progressive
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Finding 45 1 0.100 None 0
CUI: C1847514
Disease: Postnatal microcephaly
Postnatal microcephaly
phenotype Finding 62 0.100 None 0
CUI: C1849211
Disease: Generalized hirsutism
Generalized hirsutism
phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding 113 3 0.100 None 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora
phenotype Finding 30 1 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
Undetectable visual evoked potentials
phenotype Finding 6 1 0.100 None 0
CUI: C1852504
Disease: Misalignment of teeth
Misalignment of teeth
phenotype Finding 22 2 0.100 None 0
CUI: C1853242
Disease: Midface retrusion
Midface retrusion
phenotype Finding 228 0.100 None 0
CUI: C1853246
Disease: Eversion of lower lip
Eversion of lower lip
phenotype Finding 105 3 0.100 None 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
phenotype Finding 100 26 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential
phenotype Nervous System Diseases Finding 55 5 0.100 None 0
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0