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.
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38
disease Disease or Syndrome 2 2 0.700 None 1.000 2 2 2012 2013
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
disease Digestive System Diseases Disease or Syndrome 1458 827 0.320 None 1.000 2 2008 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.310 None < 0.001 1 2003 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.310 None 1.000 1 2007 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.310 None 1.000 1 2007 2007
CUI: C0264423
Disease: Asthma, Occupational
Asthma, Occupational
disease Respiratory Tract Diseases; Immune System Diseases; Occupational Diseases Disease or Syndrome 42 2 0.300 None 1.000 1 2015 2015
CUI: C0265222
Disease: Royer Syndrome
Royer Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 12 0.300 None 0
CUI: C0858252
Disease: Breast adenocarcinoma
Breast adenocarcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 219 7 0.300 None 0
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 185 8 0.300 None 0
Neoplasm of uncertain or unknown behavior of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 41 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 0.120 None 1.000 2 2012 2019
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.120 None 1.000 2 2 2011 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.120 None 1.000 2 2012 2013
CUI: C0339682
Disease: Regular astigmatism - corneal
Regular astigmatism - corneal
disease Eye Diseases Disease or Syndrome 34 28 0.110 None 1.000 1 2 2018 2018
CUI: C0015396
Disease: Eye Color
Eye Color
phenotype Organism Attribute 13 31 0.100 None 1.000 8 11 2007 2018
CUI: C0018498
Disease: Hair Color
Hair Color
phenotype Organism Attribute 130 312 0.100 None 1.000 6 10 2007 2018
CUI: C0406208
Disease: Suntan
Suntan
phenotype Organ or Tissue Function 53 94 0.100 None 1.000 3 4 2013 2018
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.100 None 1.000 2 3 2006 2013
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma
disease Neoplasms Neoplastic Process 108 109 0.100 None 1.000 2 1 2016 2019
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
phenotype Organ or Tissue Function 24 72 0.100 None 1.000 2 3 2015 2018
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer
disease Neoplasms Neoplastic Process 64 109 0.100 None 1.000 2 1 2016 2019
CUI: C0042900
Disease: Vitiligo
Vitiligo
disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.100 None 1.000 2 2 2012 2016
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm
disease Neoplasms Neoplastic Process 58 109 0.100 None 1.000 2 1 2016 2019
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.100 None 1.000 1 1 2017 2017
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
phenotype Finding 165 368 0.100 None 1.000 1 1 2017 2017