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: C0278721
Disease: Adult Lymphoblastic Lymphoma
Adult Lymphoblastic Lymphoma 		disease Neoplastic Process 85 4 0.010 None 1.000 1 2019 2019
CUI: C0279525
Disease: Childhood Lymphoblastic Lymphoma
Childhood Lymphoblastic Lymphoma 		disease Neoplastic Process 85 4 0.010 None 1.000 1 2019 2019
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.010 None 1.000 1 2019 2019
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 366 47 0.010 None 1.000 1 2019 2019
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 879 168 0.010 None 1.000 1 2019 2019
CUI: C0079748
Disease: Precursor cell lymphoblastic lymphoma
Precursor cell lymphoblastic lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 88 4 0.010 None 1.000 1 2019 2019
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		disease Nervous System Diseases Disease or Syndrome 473 37 0.420 None 1.000 2 2018 2018
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.010 None 1.000 1 2018 2018
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.010 None 1.000 1 2018 2018
CUI: C4053775
Disease: Pituitary stalk interruption syndrome
Pituitary stalk interruption syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 16 5 0.010 None 1.000 1 2018 2018
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 2017 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2014 2014
CUI: C0087012
Disease: Ataxia, Spinocerebellar
Ataxia, Spinocerebellar 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 156 4 0.310 None 1.000 1 2014 2014
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.110 None 1.000 4 1 2013 2017
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.110 None 1.000 2 1 2013 2013
CUI: C0020256
Disease: Congenital Hydrocephalus
Congenital Hydrocephalus 		disease Nervous System Diseases Congenital Abnormality 39 0.340 None 1.000 4 2012 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.100 None 1.000 1 1 2011 2011
CUI: C1306759
Disease: Eosinophilic disorder
Eosinophilic disorder 		group Hemic and Lymphatic Diseases Disease or Syndrome 288 22 0.030 None 1.000 3 2010 2019
CUI: C0014457
Disease: Eosinophilia
Eosinophilia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 325 23 0.030 None 1.000 3 2010 2019
CUI: C3887608
Disease: HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1
HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 1 		disease Disease or Syndrome 8 6 0.600 None 1.000 2 4 2010 2012
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		phenotype Nervous System Diseases Finding 410 0.600 None 1.000 2 2010 2012
CUI: C4518336
Disease: Spinocerebellar ataxia type 40
Spinocerebellar ataxia type 40 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 1 0.600 None 1.000 2 1 2010 2014
CUI: C2939461
Disease: Myeloid neoplasm
Myeloid neoplasm 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 62 5 0.010 None 1.000 1 2010 2010
CUI: C0346421
Disease: Chronic eosinophilic leukemia
Chronic eosinophilic leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 42 9 0.010 None 1.000 1 2008 2008
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease 		group Hemic and Lymphatic Diseases Neoplastic Process 365 43 0.020 None 1.000 2 2005 2019