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: C4310775
Disease: DEAFNESS, AUTOSOMAL DOMINANT 70
DEAFNESS, AUTOSOMAL DOMINANT 70 		disease Disease or Syndrome 1 1 0.700 limited 1.000 1 1 2015 2015
CUI: C0457522
Disease: Juvenile ossifying fibroma
Juvenile ossifying fibroma 		disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 5 0.010 None < 0.001 1 2018 2018
CUI: C3697776
Disease: Proliferative verrucous oral leukoplakia
Proliferative verrucous oral leukoplakia 		disease Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases Neoplastic Process 6 0.010 None 1.000 1 2013 2013
CUI: C1112356
Disease: Bronchial dysplasia
Bronchial dysplasia 		disease Disease or Syndrome 8 0.010 None 1.000 1 2006 2006
CUI: C1336084
Disease: Squamous Lung Dysplasia
Squamous Lung Dysplasia 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 8 0.010 None 1.000 1 2006 2006
CUI: C0013403
Disease: Dysplastic Nevus Syndrome
Dysplastic Nevus Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 15 0.010 None 1.000 1 2008 2008
CUI: C0206640
Disease: Ossifying Fibroma
Ossifying Fibroma 		disease Neoplasms Neoplastic Process 19 0.010 None < 0.001 1 2018 2018
CUI: C0678128
Disease: Friend leukemia
Friend leukemia 		disease Neoplasms Neoplastic Process 19 0.010 None 1.000 1 2018 2018
CUI: C0206644
Disease: Histiocytoma, Benign Fibrous
Histiocytoma, Benign Fibrous 		disease Neoplasms Neoplastic Process 23 0.010 None 1.000 1 2002 2002
CUI: C0349534
Disease: Carcinoma of anal margin
Carcinoma of anal margin 		disease Digestive System Diseases; Neoplasms Neoplastic Process 33 0.010 None 1.000 1 2017 2017
CUI: C0279637
Disease: Anal carcinoma
Anal carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 42 0.010 None 1.000 1 2017 2017
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 2012 2012
CUI: C0043037
Disease: Common wart
Common wart 		disease Neoplasms; Infections; Skin and Connective Tissue Diseases Disease or Syndrome 48 0.010 None 1.000 1 2018 2018
CUI: C2732618
Disease: Sessile Serrated Adenoma/Polyp
Sessile Serrated Adenoma/Polyp 		disease Neoplastic Process 48 6 0.010 None 1.000 1 2017 2017
CUI: C0206706
Disease: Verrucous carcinoma
Verrucous carcinoma 		disease Neoplasms Neoplastic Process 49 0.010 None 1.000 1 2018 2018
CUI: C1535510
Disease: ADENOMAS AND ADENOCARCINOMAS
ADENOMAS AND ADENOCARCINOMAS 		group Neoplasms Neoplastic Process 51 2 0.010 None 1.000 1 2009 2009
CUI: C1332271
Disease: Perianal Squamous Intraepithelial Neoplasia
Perianal Squamous Intraepithelial Neoplasia 		disease Neoplastic Process 52 0.010 None 1.000 1 2018 2018
CUI: C0279651
Disease: Gallbladder adenocarcinoma
Gallbladder adenocarcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 53 2 0.010 None 1.000 1 2016 2016
CUI: C0006079
Disease: Bowen's Disease
Bowen's Disease 		disease Neoplasms Neoplastic Process 60 0.010 None 1.000 1 2018 2018
CUI: C1298180
Disease: Single tumor
Single tumor 		phenotype Neoplastic Process 63 4 0.010 None 1.000 1 2020 2020
CUI: C1868684
Disease: EAR, PATELLA, SHORT STATURE SYNDROME
EAR, PATELLA, SHORT STATURE SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 12 0.010 None 1.000 1 2013 2013
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 28 0.100 None 0
CUI: C0079218
Disease: Fibromatosis, Aggressive
Fibromatosis, Aggressive 		disease Neoplasms Neoplastic Process 84 12 0.010 None 1.000 1 2010 2010
CUI: C0278721
Disease: Adult Lymphoblastic Lymphoma
Adult Lymphoblastic Lymphoma 		disease Neoplastic Process 85 4 0.010 None 1.000 1 2012 2012
CUI: C0279525
Disease: Childhood Lymphoblastic Lymphoma
Childhood Lymphoblastic Lymphoma 		disease Neoplastic Process 85 4 0.010 None 1.000 1 2012 2012