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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.600 None 0.964 28 2002 2020
CUI: C4479517
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD 		disease Disease or Syndrome 1 8 0.600 strong 1.000 1 8 2014 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.500 None 0.960 25 2002 2020
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.380 None 1.000 8 2002 2015
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.320 None 1.000 3 2012 2019
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		disease Neoplasms Neoplastic Process 724 22 0.320 None 1.000 3 2012 2016
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.310 None 1.000 2 2017 2017
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 183 91 0.310 None 1.000 1 2019 2019
CUI: C0751888
Disease: Mesencephalic Neoplasms
Mesencephalic Neoplasms 		disease Neoplasms; Nervous System Diseases Neoplastic Process 4 0.300 None 1.000 1 2014 2014
CUI: C0751886
Disease: Brain Stem Neoplasms, Primary
Brain Stem Neoplasms, Primary 		disease Neoplasms; Nervous System Diseases Neoplastic Process 4 0.300 None 1.000 1 2014 2014
CUI: C0751887
Disease: Medullary Neoplasms
Medullary Neoplasms 		disease Neoplasms; Nervous System Diseases Neoplastic Process 8 0.300 None 1.000 1 2014 2014
CUI: C0259783
Disease: mixed gliomas
mixed gliomas 		disease Neoplasms Neoplastic Process 76 0.300 None 1.000 1 2014 2014
CUI: C0677866
Disease: Brain Stem Neoplasms
Brain Stem Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 8 0.300 None 1.000 1 2014 2014
CUI: C0751889
Disease: Pontine Tumors
Pontine Tumors 		group Neoplasms; Nervous System Diseases Neoplastic Process 4 0.300 None 1.000 1 2014 2014
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 545 0.300 None 0
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 527 0.300 None 0
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 0.130 None 1.000 3 2017 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.120 None 1.000 2 2017 2019
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.110 None 1.000 12 2 2008 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.973 37 2002 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.100 None 1.000 25 2008 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.100 None 1.000 18 2009 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.100 None 1.000 18 2005 2019
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 11 1 2008 2017
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 11 1 2008 2017