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: C1332614
Disease: Angiosarcoma of the breast
Angiosarcoma of the breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C0009681
Disease: Anomalous pulmonary artery
Anomalous pulmonary artery 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 14 1 0.100 None 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 89 6 0.010 None 1.000 1 2017 2017
CUI: C3152182
Disease: Anterior chamber anomalies
Anterior chamber anomalies 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 18 1 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 1.000 4 1 2011 2016
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 842 420 0.100 None 1.000 4 1 2011 2016
CUI: C0346053
Disease: Atypical fibroxanthoma of skin
Atypical fibroxanthoma of skin 		disease Neoplasms Neoplastic Process 27 0.010 None 1.000 1 2017 2017
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.020 None 1.000 2 2017 2017
CUI: C1456781
Disease: Benign melanocytic nevus
Benign melanocytic nevus 		disease Neoplasms Neoplastic Process 122 20 0.020 None 1.000 2 1 2014 2017
CUI: C3665473
Disease: Bilateral Deafness
Bilateral Deafness 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Finding 20 0.300 None 1.000 1 1997 1997
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		phenotype Finding 28 2 0.100 None 0
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 34 10 0.200 None 1.000 1 2002 2002
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.080 None 1.000 8 1 2009 2019
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis 		disease Disease or Syndrome 297 3 0.010 None 1.000 1 2019 2019
CUI: C0279988
Disease: Childhood Angiosarcoma
Childhood Angiosarcoma 		disease Neoplasms Neoplastic Process 101 1 0.010 None 1.000 1 2017 2017
CUI: C0220645
Disease: Childhood Soft Tissue Sarcoma
Childhood Soft Tissue Sarcoma 		disease Neoplastic Process 166 3 0.020 None 1.000 2 2015 2020
CUI: C0025218
Disease: Chloasma
Chloasma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 25 0.020 None 1.000 2 2011 2017
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 877 43 0.010 None 1.000 1 2017 2017
CUI: C1266042
Disease: Chromophobe Renal Cell Carcinoma
Chromophobe Renal Cell Carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 185 2 0.300 None 1.000 1 2011 2011
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.010 None 1.000 1 2012 2012
CUI: C4518333
Disease: Clear cell papillary renal cell carcinoma
Clear cell papillary renal cell carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 19 0.300 None 1.000 1 2011 2011
CUI: C0206651
Disease: Clear Cell Sarcoma of Soft Tissue
Clear Cell Sarcoma of Soft Tissue 		disease Neoplasms Neoplastic Process 51 2 0.090 None 1.000 9 2002 2020
CUI: C1266044
Disease: Collecting Duct Carcinoma of the Kidney
Collecting Duct Carcinoma of the Kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 162 0.300 None 1.000 1 2011 2011