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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.500 0.950 20 2002 2016
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 153 705 0.500 limited 0
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 0.410 strong 1.000 4 2014 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.400 0.950 20 2002 2016
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.400 1.000 10 2002 2015
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
disease Disease or Syndrome 1 5 0.400 1 5 2017 2017
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 2210 180 0.330 1.000 3 2012 2015
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
disease Neoplasms Neoplastic Process 503 11 0.310 1.000 2 2012 2014
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 207 1 0.300 1 2017 2017
CUI: C0751886
Disease: Brain Stem Neoplasms, Primary
Brain Stem Neoplasms, Primary
group Neoplasms; Nervous System Diseases Neoplastic Process 4 0.300 1 2014 2014
CUI: C0751888
Disease: Mesencephalic Neoplasms
Mesencephalic Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 4 0.300 1 2014 2014
CUI: C0751889
Disease: Pontine Tumors
Pontine Tumors
group Neoplasms; Nervous System Diseases Neoplastic Process 4 0.300 1 2014 2014
CUI: C0259783
Disease: mixed gliomas
mixed gliomas
disease Neoplasms Neoplastic Process 72 0.300 1 2014 2014
CUI: C0751887
Disease: Medullary Neoplasms
Medullary Neoplasms
disease Neoplasms; Nervous System Diseases Neoplastic Process 9 0.300 1 2014 2014
CUI: C0677866
Disease: Brain Stem Neoplasms
Brain Stem Neoplasms
group Neoplasms; Nervous System Diseases Neoplastic Process 5 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 0
CUI: C0950123
Disease: Genetic Diseases, Inborn
Genetic Diseases, Inborn
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 506 827 0.100 11 1 2008 2017
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 4064 159 0.100 1.000 10 2006 2015
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 2025 244 0.100 1.000 10 2009 2016
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma
disease Neoplastic Process 2202 316 0.100 1.000 10 2009 2016
CUI: C0575802
Disease: Small hand
Small hand
phenotype Finding 64 2 0.100 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.100 0
CUI: C4020875
Disease: Mental and motor retardation
Mental and motor retardation
phenotype Pathologic Function 1020 151 0.100 0
Delayed speech and language development
phenotype Finding 219 39 0.100 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear
disease Congenital Abnormality 113 0.100 0