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: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 56 6 0.670 None 1.000 9 2012 2020
CUI: C0025286
Disease: Meningioma
Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.460 None 1.000 6 2015 2019
CUI: C4310788
Disease: COFFIN-SIRIS SYNDROME 5
COFFIN-SIRIS SYNDROME 5
disease Disease or Syndrome 1 2 0.400 None 1.000 2 2 2012 2013
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 6 61 0.300 moderate 1.000 1 2012 2012
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
disease Neoplasms Neoplastic Process 325 30 0.300 None 1.000 1 2013 2013
CUI: C1333989
Disease: Familial meningioma
Familial meningioma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 6 0.300 None 1.000 1 2013 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.120 None 1.000 2 2014 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 11 2005 2020
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow
phenotype Finding 104 13 0.100 None 0
CUI: C1840069
Disease: Sandal gap
Sandal gap
phenotype Finding 62 6 0.100 None 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline
phenotype Finding 71 17 0.100 None 0
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae
phenotype Finding 17 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 429 29 0.100 None 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge
phenotype Finding 117 1 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: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger
phenotype Finding 85 3 0.100 None 0
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion
phenotype Finding 145 10 0.100 None 0
CUI: C0426421
Disease: Wide nose
Wide nose
phenotype Finding 87 1 0.100 None 0
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 38 1 0.100 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.100 None 0
CUI: C1853738
Disease: Long eyelashes
Long eyelashes
phenotype Finding 83 17 0.100 None 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 417 30 0.100 None 0
CUI: C1837279
Disease: Hypoplastic toenails
Hypoplastic toenails
phenotype Finding 42 1 0.100 None 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.100 None 0