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: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 41 24 0.700 1.000 27 3 2005 2016
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 33 0.690 1.000 13 11 1993 2013
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 378 49 0.690 1.000 11 12 1993 2015
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
disease Disease or Syndrome 1 16 0.600 7 16 2005 2015
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
disease Disease or Syndrome 1 9 0.600 7 9 2005 2017
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4
disease Disease or Syndrome 1 7 0.600 5 7 2005 2008
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 11 22 0.520 1.000 2 2008 2013
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 2210 180 0.500 0.980 55 5 2004 2018
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 2453 389 0.500 1.000 52 4 2001 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.500 0.963 35 11 2002 2018
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
disease Endocrine System Diseases; Neoplasms Neoplastic Process 720 81 0.500 1.000 19 1 2003 2017
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 3 31 0.440 1.000 5 4 1993 2007
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 853 42 0.420 1.000 4 2 2009 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 3592 419 0.400 0.983 67 3 1998 2018
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2448 409 0.400 0.976 43 7 2001 2016
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1216 142 0.400 0.920 31 2 2000 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.400 0.960 26 8 2002 2017
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 2242 362 0.400 0.960 25 2 2002 2016
Malignant neoplasm of urinary bladder
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Neoplasms Neoplastic Process 1143 157 0.400 0.909 23 2 2000 2016
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.400 1.000 18 5 2001 2016
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.400 0.800 16 2002 2014
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
disease Endocrine System Diseases; Neoplasms Neoplastic Process 475 35 0.400 0.900 15 1999 2017
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
disease Digestive System Diseases; Endocrine System Diseases; Neoplasms Neoplastic Process 1845 136 0.400 1.000 14 1 2005 2017
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
group Neoplasms; Respiratory Tract Diseases Neoplastic Process 1176 23 0.400 1.000 14 2000 2009
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
disease Neoplasms Neoplastic Process 503 11 0.400 1.000 14 2001 2016