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: C4310688
Disease: SIFRIM-HITZ-WEISS SYNDROME
SIFRIM-HITZ-WEISS SYNDROME
disease Disease or Syndrome 1 7 0.400 2 7 2017 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 0
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.300 1 2011 2011
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 839 145 0.300 1 2013 2013
CUI: C0014170
Disease: Endometrial Neoplasms
Endometrial Neoplasms
group Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 237 39 0.300 1 2013 2013
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 9 1 2010 2017
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus
phenotype Finding 13 1 0.100 0
CUI: C1837485
Disease: Flat acetabular roof
Flat acetabular roof
phenotype Finding 16 0.100 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck
phenotype Finding 26 0.100 0
CUI: C1836150
Disease: Gait imbalance
Gait imbalance
phenotype Finding 22 3 0.100 0
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 262 12 0.100 0
CUI: C1384666
Disease: hearing impairment
hearing impairment
phenotype Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 293 1 0.100 0
CUI: C0917816
Disease: Mental deficiency
Mental deficiency
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 1031 0.100 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
disease Congenital Abnormality 254 0.100 0
CUI: C4020892
Disease: Capuchin ears
Capuchin ears
disease Congenital Abnormality 25 0.100 0
CUI: C1839604
Disease: Renal failure in adulthood
Renal failure in adulthood
phenotype Finding 95 2 0.100 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 984 116 0.100 0
CUI: C4280666
Disease: Triangular head shape
Triangular head shape
disease Congenital Abnormality 19 0.100 0
CUI: C4280665
Disease: Wedge shaped head
Wedge shaped head
disease Congenital Abnormality 19 0.100 0
CUI: C4280664
Disease: Big calvaria
Big calvaria
phenotype Finding 212 0.100 0
CUI: C4255213
Disease: Increased size of skull
Increased size of skull
phenotype Finding 212 0.100 0
CUI: C4083076
Disease: Increased head circumference
Increased head circumference
phenotype Finding 214 0.100 0
Thickened facial skin with coarse facial features
phenotype Finding 150 0.100 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle
phenotype Anatomical Abnormality 24 0.100 0
CUI: C4020876
Disease: Dull intelligence
Dull intelligence
phenotype Finding 946 0.100 0