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: C0334050
Disease: Adenosis
Adenosis 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 8 0.010 None 1.000 1 2001 2001
CUI: C0268281
Disease: Infantile neuronal ceroid lipofuscinosis
Infantile neuronal ceroid lipofuscinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 22 4 0.010 None 1.000 1 1991 1991
CUI: C0085750
Disease: Adenosis of Breast
Adenosis of Breast 		disease Skin and Connective Tissue Diseases Neoplastic Process 26 0.010 None 1.000 1 2001 2001
CUI: C2314896
Disease: Familial Atypical Mole Melanoma Syndrome
Familial Atypical Mole Melanoma Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 30 3 0.010 None 1.000 1 1992 1992
CUI: C4479344
Disease: SCLEROSING CHOLANGITIS, NEONATAL
SCLEROSING CHOLANGITIS, NEONATAL 		disease Disease or Syndrome 39 9 0.010 None 1.000 1 2018 2018
CUI: C0205833
Disease: Medullomyoblastoma
Medullomyoblastoma 		disease Neoplasms Neoplastic Process 43 0.300 None 1.000 1 2009 2009
CUI: C1275668
Disease: Melanotic medulloblastoma
Melanotic medulloblastoma 		disease Neoplasms Neoplastic Process 43 0.300 None 1.000 1 2009 2009
CUI: C0751291
Disease: Desmoplastic Medulloblastoma
Desmoplastic Medulloblastoma 		disease Neoplasms Neoplastic Process 54 1 0.300 None 1.000 1 2009 2009
CUI: C0751569
Disease: Genitourinary Cancer
Genitourinary Cancer 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 60 1 0.010 None 1.000 1 1991 1991
CUI: C0016059
Disease: Fibrosis
Fibrosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 184 0.010 None 1.000 1 2003 2003
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell 		disease Neoplasms Neoplastic Process 185 7 0.010 None 1.000 1 1988 1988
CUI: C0036920
Disease: Sezary Syndrome
Sezary Syndrome 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 196 7 0.010 None 1.000 1 2003 2003
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma 		disease Neoplasms; Infections Neoplastic Process 226 10 0.020 None 1.000 2 2009 2017
CUI: C0026948
Disease: Mycosis Fungoides
Mycosis Fungoides 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 251 8 0.010 None 1.000 1 2003 2003
CUI: C4551687
Disease: Sarcoma of soft tissue
Sarcoma of soft tissue 		group Neoplasms Neoplastic Process 258 6 0.010 None 1.000 1 1990 1990
CUI: C0007682
Disease: CNS disorder
CNS disorder 		group Nervous System Diseases Disease or Syndrome 319 11 0.010 None 1.000 1 2016 2016
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor 		disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 323 13 0.010 None < 0.001 1 2005 2005
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma 		disease Neoplasms Neoplastic Process 344 186 0.010 None 1.000 1 1992 1992
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 375 170 0.010 None 1.000 1 2019 2019
CUI: C4551683
Disease: Adrenal Gland Pheochromocytoma
Adrenal Gland Pheochromocytoma 		disease Neoplasms; Endocrine System Diseases Neoplastic Process 416 50 0.010 None 1.000 1 1992 1992
CUI: C0740457
Disease: Malignant neoplasm of kidney
Malignant neoplasm of kidney 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 664 22 0.010 None 1.000 1 1996 1996
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 665 21 0.010 None 1.000 1 1996 1996
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 733 197 0.010 None 1.000 1 1998 1998
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		disease Neoplasms; Stomatognathic Diseases Neoplastic Process 734 172 0.010 None 1.000 1 1990 1990
CUI: C0521158
Disease: Recurrent tumor
Recurrent tumor 		phenotype Neoplastic Process 735 33 0.020 None 1.000 2 1991 2009