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: C0345832
Disease: Neoplasm of small intestine
Neoplasm of small intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 9 0.100 None 0
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
disease Neoplasms Neoplastic Process 504 42 0.300 None 0 1
CUI: C1860236
Disease: Irregular hyperpigmentation
Irregular hyperpigmentation
phenotype Skin and Connective Tissue Diseases Finding 55 2 0.100 None 0
CUI: C0235896
Disease: Pulmonary Infiltrate
Pulmonary Infiltrate
phenotype Respiratory Tract Diseases Finding 43 0.100 None 0
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.210 None 1.000 2 1991 2018
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 3097 353 0.100 None 1.000 17 1992 2019
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma
disease Neoplasms Neoplastic Process 724 22 0.050 None 1.000 5 1992 2019
CUI: C0080024
Disease: Piebaldism
Piebaldism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 33 18 0.010 None 1.000 1 1992 1992
CUI: C0750974
Disease: Brain Tumor, Primary
Brain Tumor, Primary
disease Neoplasms; Nervous System Diseases Neoplastic Process 122 8 0.010 None 1.000 1 1992 1992
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.950 161 9 1994 2019
CUI: C0025286
Disease: Meningioma
Meningioma
disease Neoplasms; Nervous System Diseases Neoplastic Process 634 43 0.010 None 1.000 1 1994 1994
CUI: C0206664
Disease: Teratocarcinoma
Teratocarcinoma
disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 1994 1994
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.400 None 0.974 39 1995 2020
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.400 None 0.968 31 1995 2020
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
disease Neoplasms Neoplastic Process 2527 98 0.100 None 0.950 20 1995 2019
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
disease Neoplasms Neoplastic Process 2528 98 0.100 None 0.950 20 1995 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.100 None 0.920 25 1996 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.100 None 0.882 17 1996 2018
CUI: C2936380
Disease: Neointima
Neointima
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 40 0.200 None 1.000 1 1997 1997
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 304 122 0.060 None 1.000 6 1998 2008
CUI: C0080178
Disease: Spina Bifida
Spina Bifida
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 179 61 0.350 None 1.000 5 1998 2011
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
disease Respiratory Tract Diseases Disease or Syndrome 924 25 0.210 None 1.000 2 1998 2018
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
disease Neoplasms Neoplastic Process 985 59 0.100 None 1.000 10 1999 2013
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma
disease Neoplasms Neoplastic Process 282 21 0.040 None 1.000 4 2000 2016
Well Differentiated Oligodendroglioma
disease Neoplasms Neoplastic Process 270 22 0.040 None 1.000 4 2000 2016