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: C0265210
Disease: Weaver syndrome
Weaver syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Disease or Syndrome 6 12 0.780 1.000 13 12 1993 2018
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 574 71 0.700 1.000 16 2010 2017
CUI: C0024301
Disease: Lymphoma, Follicular
Lymphoma, Follicular
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 358 74 0.600 1.000 16 2010 2018
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 1306 61 0.500 1.000 33 3 2001 2018
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 0.410 strong 1.000 1 2018 2018
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Male Urogenital Diseases; Neoplasms Neoplastic Process 3238 563 0.400 0.985 71 2002 2018
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.400 0.978 46 2003 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.400 0.977 45 2003 2018
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
group Male Urogenital Diseases; Neoplasms Neoplastic Process 1553 25 0.400 1.000 16 2002 2013
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.400 1.000 16 2003 2014
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
group Hemic and Lymphatic Diseases Neoplastic Process 682 53 0.400 1.000 15 2010 2018
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas
group Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 729 32 0.400 1.000 14 2010 2017
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
phenotype Neoplastic Process 839 9 0.370 1.000 7 2009 2016
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
disease Neoplasms Neoplastic Process 1102 74 0.340 1.000 5 2004 2016
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
disease Hemic and Lymphatic Diseases Neoplastic Process 181 20 0.320 1.000 3 1 2010 2018
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 839 145 0.320 1.000 3 2012 2018
CUI: C0023480
Disease: Leukemia, Myelomonocytic, Chronic
Leukemia, Myelomonocytic, Chronic
disease Hemic and Lymphatic Diseases; Neoplasms Neoplastic Process 107 36 0.320 1.000 2 2012 2012
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
Adult Diffuse Large B-Cell Lymphoma
disease Neoplastic Process 45 13 0.310 1.000 1 2017 2017
Childhood Diffuse Large B-Cell Lymphoma
disease Neoplastic Process 45 13 0.310 1.000 1 2017 2017
CUI: C0220765
Disease: Weaver-Like Syndrome
Weaver-Like Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Musculoskeletal Diseases Disease or Syndrome 1 6 0.300 5 6 2012 2018
Myelodysplastic-Myeloproliferative Diseases
group Hemic and Lymphatic Diseases Neoplastic Process 15 0.300 1 2010 2010
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 213 37 0.300 1 2016 2016
CUI: C1956132
Disease: Lymphoma, Follicular, Grade 2
Lymphoma, Follicular, Grade 2
disease Hemic and Lymphatic Diseases; Immune System Diseases; Neoplasms Neoplastic Process 20 31 0.300 1 2014 2014
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 33 0.300 1 2016 2016
CUI: C2713368
Disease: Hematopoetic Myelodysplasia
Hematopoetic Myelodysplasia
disease Hemic and Lymphatic Diseases Pathologic Function 36 0.300 1 2010 2010