Source: BEFREE ×
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: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 24 9 0.010 None 1.000 1 2017 2017
CUI: C0751202
Disease: Cystathionine beta-Synthase Deficiency Disease
Cystathionine beta-Synthase Deficiency Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases Disease or Syndrome 25 12 0.010 None 1.000 1 2010 2010
CUI: C0032320
Disease: Pneumoperitoneum
Pneumoperitoneum 		disease Digestive System Diseases Disease or Syndrome 26 0.010 None 1.000 1 2015 2015
CUI: C0280216
Disease: stage, neuroblastoma
stage, neuroblastoma 		disease Neoplasms Neoplastic Process 27 4 0.010 None 1.000 1 1 1996 1996
CUI: C0007859
Disease: Neck Pain
Neck Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 28 3 0.010 None 1.000 1 2019 2019
CUI: C1518693
Disease: Clear cell adenocarcinoma of ovary
Clear cell adenocarcinoma of ovary 		disease Neoplasms Neoplastic Process 28 0.010 None 1.000 1 2008 2008
CUI: C0860594
Disease: Malignant melanoma, metastatic
Malignant melanoma, metastatic 		disease Neoplasms Neoplastic Process 29 5 0.010 None 1.000 1 1994 1994
CUI: C4704874
Disease: Mammary Carcinoma, Human
Mammary Carcinoma, Human 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 29 0.010 None 1.000 1 1997 1997
CUI: C3831784
Disease: Acute monocytic/monoblastic leukemia
Acute monocytic/monoblastic leukemia 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 35 2 0.020 None 1.000 2 1996 1998
CUI: C0345958
Disease: Large cell carcinoma of lung
Large cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 36 0.010 None 1.000 1 2006 2006
CUI: C1854310
Disease: Hypotrichosis simplex
Hypotrichosis simplex 		disease Skin and Connective Tissue Diseases Disease or Syndrome 36 4 0.010 None 1.000 1 2013 2013
CUI: C0278519
Disease: Recurrent Childhood Acute Lymphoblastic Leukemia
Recurrent Childhood Acute Lymphoblastic Leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 37 0.010 None 1.000 1 1999 1999
CUI: C0018671
Disease: Head and Neck Neoplasms
Head and Neck Neoplasms 		group Neoplasms Neoplastic Process 40 0.010 None 1.000 1 2004 2004
CUI: C1512433
Disease: Cervical high grade squamous intraepithelial lesion
Cervical high grade squamous intraepithelial lesion 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 42 0.010 None 1.000 1 2007 2007
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome; Congenital Abnormality 49 4 0.010 None 1.000 1 2005 2005
CUI: C0221228
Disease: Comedone
Comedone 		disease Skin and Connective Tissue Diseases Disease or Syndrome 49 0.010 None 1.000 1 1994 1994
CUI: C1334011
Disease: High Grade Cervical Intraepithelial Neoplasia
High Grade Cervical Intraepithelial Neoplasia 		disease Neoplasms Neoplastic Process 51 1 0.010 None 1.000 1 2007 2007
CUI: C0016514
Disease: Foot-and-Mouth Disease
Foot-and-Mouth Disease 		group Infections; Animal Diseases Disease or Syndrome 55 0.010 None 1.000 1 2018 2018
CUI: C0041207
Disease: Truncus Arteriosus, Persistent
Truncus Arteriosus, Persistent 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 56 2 0.010 None 1.000 1 2000 2000
CUI: C0278694
Disease: Disseminated neuroblastoma
Disseminated neuroblastoma 		disease Neoplasms Neoplastic Process 56 0.010 None 1.000 1 1995 1995
CUI: C0751571
Disease: Cancer of Urinary Tract
Cancer of Urinary Tract 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 58 11 0.010 None 1.000 1 2001 2001
CUI: C0678213
Disease: Complete hydatidiform mole
Complete hydatidiform mole 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 59 3 0.010 None 1.000 1 2002 2002
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality 61 10 0.010 None 1.000 1 2 2020 2020
CUI: C0034543
Disease: Radicular Cyst
Radicular Cyst 		disease Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 62 0.010 None 1.000 1 2001 2001
CUI: C4551463
Disease: Colon adenoma
Colon adenoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 62 1 0.010 None 1.000 1 2010 2010