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.
CEREBROOCULOFACIOSKELETAL SYNDROME 4
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 3 0.700 None 1.000 2 3 2007 2013
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.600 None 0.949 39 11 2005 2019
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.600 None 0.947 38 11 2005 2019
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1486 39 0.580 None 1.000 9 2003 2018
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.400 None 0.963 164 5 2002 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.400 None 0.935 107 5 1992 2020
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.400 None 0.904 52 5 1994 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.400 None 0.969 32 3 1998 2019
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 1553 320 0.400 None 1.000 15 2009 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.400 None 0.917 12 3 2008 2019
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms Neoplastic Process 2438 563 0.400 None 1.000 12 1 2009 2019
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.400 None 1.000 1 2010 2010
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 137 35 0.370 strong 0.889 9 1985 2019
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.350 None 0.800 5 2007 2018
CUI: C4048328
Disease: cervical cancer
cervical cancer
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 1817 268 0.340 None 1.000 5 1 2010 2017
CUI: C0039590
Disease: Testicular Neoplasms
Testicular Neoplasms
group Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 124 31 0.320 None 1.000 3 2004 2010
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.320 strong 1.000 3 2007 2009
Cerebrooculofacioskeletal Syndrome 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 7 58 0.320 None 1.000 2 1 2007 2015
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm
group Neoplasms Neoplastic Process 371 7 0.310 None 1.000 2 2013 2018
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis
disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 253 31 0.310 None 1.000 2 2005 2010
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 54 0.310 None 1.000 1 2012 2012
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.300 None 1.000 1 2011 2011
CUI: C1859312
Disease: CAMFAK syndrome
CAMFAK syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2007 2007
CUI: C0751364
Disease: Cancer, Embryonal
Cancer, Embryonal
phenotype Neoplasms Neoplastic Process 18 0.300 None 1.000 1 2010 2010
CUI: C0027654
Disease: Embryonal Neoplasm
Embryonal Neoplasm
disease Neoplasms Neoplastic Process 57 2 0.300 None 1.000 1 2010 2010