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: C1832394
Disease: Deafness, Autosomal Recessive 12
Deafness, Autosomal Recessive 12
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 18 0.300 0
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 571 436 0.110 1.000 2 4 2012 2018
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery
phenotype Pathologic Function 374 3393 0.100 1 1 2008 2008
blood phenylalanine measurement by Guthrie microbiologic assay
phenotype Laboratory Procedure 1 1 0.100 1 1 2008 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.100 1 1 2018 2018
CUI: C0027404
Disease: Narcolepsy
Narcolepsy
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 257 440 0.100 1 1 2009 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.040 1.000 4 2003 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.030 1.000 3 2003 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.020 1.000 2 2 2012 2013
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome
disease Cardiovascular Diseases; Nervous System Diseases Disease or Syndrome 118 130 0.020 1.000 2 1993 1994
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
phenotype Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 118 7 0.010 1.000 1 2010 2010
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis
disease Nervous System Diseases Disease or Syndrome 347 2 0.010 1 2005 2005
Sensorineural Hearing Loss (disorder)
disease Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 470 31 0.010 1.000 1 1 2007 2007
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.010 1 2005 2005
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Neoplastic Process 2090 240 0.010 1.000 1 2009 2009
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 276 31 0.010 1.000 1 1994 1994
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 4064 159 0.010 1.000 1 2003 2003
CUI: C0339789
Disease: Congenital deafness
Congenital deafness
disease Congenital Abnormality 288 7 0.010 1.000 1 2012 2012
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 1309 447 0.010 1.000 1 2000 2000
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
disease Cardiovascular Diseases Disease or Syndrome 277 126 0.010 1.000 1 1997 1997