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: C0020796
Disease: Profound Mental Retardation
Profound Mental Retardation
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 195 2 0.300 2 2010 2014
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 0.400 2 2010 2014
CUI: C0025363
Disease: Mental Retardation, Psychosocial
Mental Retardation, Psychosocial
disease Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 137 0.300 2 2010 2014
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
phenotype Finding 5 9 0.300 2 1 2013 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.400 2 2 2015 2018
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
disease Disease or Syndrome 1 7 0.400 2 7 2014 2015
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
Myeloid Leukemia, Chronic
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 875 64 0.600 1 3 2013 2013
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia
disease Neoplasms Neoplastic Process 500 6 0.300 1 2013 2013
CUI: C0023466
Disease: Leukemia, Monocytic, Chronic
Leukemia, Monocytic, Chronic
disease Neoplasms Neoplastic Process 18 0.300 1 2013 2013
CUI: C0023012
Disease: Language Delay
Language Delay
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 205 0.300 1 2014 2014
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome
disease Cardiovascular Diseases; Hemic and Lymphatic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 155 124 0.100 1 1 2017 2017
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 207 1 0.300 1 2017 2017
CUI: C0043094
Disease: Weight Gain
Weight Gain
phenotype Pathological Conditions, Signs and Symptoms Finding 109 1 0.300 1 2008 2008
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 limited 1 2013 2013
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 1 2010 2010
CUI: C0429097
Disease: QRS complex feature
QRS complex feature
phenotype Finding 36 68 0.100 1 2 2017 2017
CUI: C1527249
Disease: Colorectal Cancer
Colorectal Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 3298 955 0.300 1 1 2006 2006
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.300 1 2015 2015
CUI: C0454655
Disease: Semantic-Pragmatic Disorder
Semantic-Pragmatic Disorder
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 11 0.300 1 2014 2014
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 475 0.300 1 2015 2015
Auditory Processing Disorder, Central
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 11 0.300 1 2014 2014
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype Pathologic Function 206 0.300 limited 1 2013 2013
CUI: C0010051
Disease: Coronary Aneurysm
Coronary Aneurysm
disease Cardiovascular Diseases Disease or Syndrome 28 7 0.100 1 1 2017 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.300 1 2015 2015
CUI: C0018203
Disease: Chronic granulomatous disease
Chronic granulomatous disease
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Immune System Diseases Disease or Syndrome 78 12 0.010 1 2006 2006