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: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 384 698 0.100 None 1.000 180 265 1953 2018
CUI: C2242776
Disease: Plexiform leiomyoma
Plexiform leiomyoma 		disease Neoplastic Process 41 103 0.100 None 1.000 2 1 2018 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.100 None 1.000 1 1 2018 2018
CUI: C0153535
Disease: Malignant melanoma of skin of upper limb
Malignant melanoma of skin of upper limb 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42 0.100 None 1.000 1 1 2018 2018
CUI: C0153536
Disease: Malignant melanoma of skin of lower limb
Malignant melanoma of skin of lower limb 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 32 42 0.100 None 1.000 1 1 2018 2018
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases Neoplastic Process 74 2117 0.100 None 1.000 1 4 2016 2016
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.100 None 0 26
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
Noninfiltrating Intraductal Carcinoma 		disease Neoplasms Neoplastic Process 486 13 0.100 None 0 1
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		disease Neoplasms Neoplastic Process 3177 281 0.100 None 0 2
CUI: C0023448
Disease: Lymphoid leukemia
Lymphoid leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 288 4 0.100 None 0 1
CUI: C0023798
Disease: Lipoma
Lipoma 		disease Neoplasms Neoplastic Process 87 9 0.100 None 0 1
CUI: C0029440
Disease: Osteoma
Osteoma 		disease Neoplasms Neoplastic Process 6 1 0.100 None 0 1
CUI: C0030421
Disease: Paraganglioma
Paraganglioma 		disease Neoplasms Neoplastic Process 165 36 0.100 None 0 1
CUI: C0206667
Disease: Adrenal Cortical Adenoma
Adrenal Cortical Adenoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 156 9 0.100 None 0 1
CUI: C0242363
Disease: Islet Cell Tumor
Islet Cell Tumor 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 108 5 0.100 None 0 1
CUI: C0281267
Disease: bilateral breast cancer
bilateral breast cancer 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 31 17 0.100 None 0 2
CUI: C0334634
Disease: Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 296 9 0.100 None 0 2
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 136 23 0.100 None 0 1
CUI: C0555198
Disease: Malignant Glioma
Malignant Glioma 		disease Neoplasms Neoplastic Process 724 22 0.100 None 0 1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.100 None 0 11
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2542 757 0.100 None 0 2
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.100 None 0 3
CUI: C1876175
Disease: Ataxia-Telangiectasia Variant
Ataxia-Telangiectasia Variant 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 5 0.100 None 0 4
CUI: C2363142
Disease: T-Cell Prolymphocytic Leukemia
T-Cell Prolymphocytic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 52 4 0.100 None 0 2
CUI: C3501843
Disease: Nonmedullary Thyroid Carcinoma
Nonmedullary Thyroid Carcinoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 89 3 0.100 None 0 1