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: C4324314
Disease: Primary familial brain calcification
Primary familial brain calcification 		disease Nutritional and Metabolic Diseases Congenital Abnormality 12 6 0.100 None 1.000 10 1 2015 2020
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		disease Neoplasms Neoplastic Process 77 0.600 moderate 0.944 54 1997 2019
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans 		disease Neoplasms Neoplastic Process 78 0.400 None 0.980 50 1997 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.879 33 1986 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma 		group Neoplasms Neoplastic Process 853 42 0.040 None 1.000 4 1988 2019
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		group Neoplasms Neoplastic Process 699 32 0.030 None 1.000 3 1988 2019
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		disease Neoplasms Neoplastic Process 387 9 0.020 None 1.000 2 2001 2019
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma 		disease Neoplasms Neoplastic Process 413 9 0.120 None 1.000 2 2001 2019
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms 		group Neoplasms Neoplastic Process 145 0.020 None 1.000 2 2016 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.020 None 1.000 2 2017 2019
CUI: C0279986
Disease: Childhood Leiomyosarcoma
Childhood Leiomyosarcoma 		disease Neoplasms Neoplastic Process 140 1 0.010 None 1.000 1 2019 2019
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma 		disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 2019 2019
CUI: C0153349
Disease: Malignant neoplasm of tongue
Malignant neoplasm of tongue 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 155 1 0.010 None 1.000 1 2019 2019
CUI: C0042138
Disease: Uterine Neoplasms
Uterine Neoplasms 		group Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 32 1 0.010 None 1.000 1 2019 2019
CUI: C1456868
Disease: Diabetic foot ulcer
Diabetic foot ulcer 		disease Skin and Connective Tissue Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome 107 17 0.010 None 1.000 1 2019 2019
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		disease Neoplasms Neoplastic Process 213 5 0.010 None 1.000 1 2019 2019
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.010 None 1.000 1 2019 2019
CUI: C0334459
Disease: Infantile fibrosarcoma
Infantile fibrosarcoma 		disease Neoplasms Neoplastic Process 17 0.010 None 1.000 1 2019 2019
CUI: C0558353
Disease: Tongue Carcinoma
Tongue Carcinoma 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 157 2 0.010 None 1.000 1 2019 2019
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma 		disease Neoplasms Neoplastic Process 33 0.400 None 0.923 26 1997 2018
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.060 None 0.833 6 1989 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.030 None 1.000 3 2011 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.020 None 1.000 2 1996 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.020 None 1.000 2 2006 2018
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 2667 277 0.010 None 1.000 1 1 2018 2018