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: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome
disease Nutritional and Metabolic Diseases Disease or Syndrome 61 72 0.900 0.941 143 70 1987 2017
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 153 705 0.630 limited 0.667 8 1 2000 2015
Childhood Acute Lymphoblastic Leukemia
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 442 97 0.550 1.000 6 5 2001 2014
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 154 33 0.420 1.000 3 3 2004 2015
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma
disease Neoplasms Neoplastic Process 589 66 0.420 1.000 2 2 2008 2012
CUI: C0017638
Disease: Glioma
Glioma
disease Neoplasms Neoplastic Process 2210 180 0.410 1.000 1 1 2016 2016
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 396 11 0.410 1.000 1 2004 2004
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.400 0.895 39 9 2002 2017
Hereditary Breast and Ovarian Cancer Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 51 1572 0.400 1 1 2015 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.400 strong 0
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.360 0.833 6 2 2004 2015
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 538 154 0.360 1.000 6 2000 2015
CUI: C0025958
Disease: Microcephaly
Microcephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 234 3 0.330 strong 1.000 3 2008 2011
Precursor Cell Lymphoblastic Leukemia Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 617 126 0.330 1.000 3 2 2004 2011
CUI: C0038362
Disease: Stomatitis
Stomatitis
disease Stomatognathic Diseases Disease or Syndrome 22 1 0.310 1.000 1 2015 2015
CUI: C1568868
Disease: Oral Mucositis
Oral Mucositis
disease Stomatognathic Diseases Disease or Syndrome 13 0.310 1.000 1 2015 2015
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 1437 87 0.310 1.000 1 2018 2018
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 52 21 0.310 1.000 1 2013 2013
CUI: C0010828
Disease: Cytopenia
Cytopenia
phenotype Pathologic Function 206 0.300 strong 2 2001 2004
CUI: C0431350
Disease: Primary microcephaly
Primary microcephaly
disease Congenital Abnormality 115 9 0.300 strong 2 1993 1998
CUI: C0158995
Disease: Congenital anemia
Congenital anemia
disease Disease or Syndrome 208 0.300 strong 2 2001 2004
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.300 2 2004 2015
CUI: C1861906
Disease: Breast Cancer, Familial Male
Breast Cancer, Familial Male
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 12 111 0.300 1 1 2004 2004
CUI: C0027643
Disease: Neoplasm Recurrence, Local
Neoplasm Recurrence, Local
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Neoplastic Process 39 0.300 1 2015 2015
CUI: C0376545
Disease: Hematologic Neoplasms
Hematologic Neoplasms
group Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 556 37 0.300 strong 1 2 2017 2017