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.
Tibia, Bowing of, with Pseudarthrosis and Pectus Excavatum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Wounds and Injuries Disease or Syndrome 1 0.300 None 1.000 4 1976 2015
CUI: C4084709
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 97
DEAFNESS, AUTOSOMAL RECESSIVE 97
disease Disease or Syndrome 1 1 0.510 None 1.000 2 1 2015 2019
CUI: C0948281
Disease: Malignant syndrome NOS
Malignant syndrome NOS
disease Disease or Syndrome 1 0.010 None 1.000 1 2017 2017
Stage IB Non-Small Cell Lung Carcinoma AJCC v7
disease Neoplastic Process 1 0.010 None 1.000 1 2016 2016
CUI: C3826590
Disease: Chest--Tumors
Chest--Tumors
disease Neoplastic Process 1 0.010 None 1.000 1 2009 2009
CUI: C4724264
Disease: stage IB non-small cell lung cancer
stage IB non-small cell lung cancer
disease Neoplastic Process 1 0.010 None 1.000 1 2016 2016
CUI: C4744722
Disease: Advanced Cervical Carcinoma
Advanced Cervical Carcinoma
disease Neoplastic Process 1 0.010 None 1.000 1 2015 2015
Papillary renal cell carcinoma, familial
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 1 0.300 None 0
OSTEOFIBROUS DYSPLASIA, SUSCEPTIBILITY TO
phenotype Finding 2 2 0.300 None 1.000 4 2 1976 2015
Type 1 Papillary Renal Cell Carcinoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 4 14 0.320 None 1.000 7 11 1997 2017
CUI: C1963135
Disease: Hepatic Necrosis, CTCAE 3.0
Hepatic Necrosis, CTCAE 3.0
phenotype Finding 4 0.100 None 0
CUI: C4554166
Disease: Hepatic Necrosis, CTCAE 5.0
Hepatic Necrosis, CTCAE 5.0
phenotype Finding 4 0.100 None 0
Hereditary Papillary Renal Carcinoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 5 1 0.400 None 1.000 16 1 1998 2012
CUI: C0877173
Disease: Food aversion
Food aversion
disease Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2018 2018
CUI: C1443296
Disease: Axial myopia
Axial myopia
disease Eye Diseases Disease or Syndrome 5 0.010 None < 0.001 1 2009 2009
CUI: C0033785
Disease: Pseudarthrosis
Pseudarthrosis
phenotype Wounds and Injuries Pathologic Function 5 1 0.100 None 0
CUI: C0007135
Disease: Adenocarcinoma, Scirrhous
Adenocarcinoma, Scirrhous
disease Neoplasms Neoplastic Process 7 0.020 None 1.000 2 1993 1995
CUI: C1318558
Disease: Congenital melanocytic nevus
Congenital melanocytic nevus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 7 5 0.010 None 1.000 1 2001 2001
CUI: C2007076
Disease: Liver Carcinosarcoma
Liver Carcinosarcoma
disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C4684879
Disease: Metastatic Bile Duct Carcinoma
Metastatic Bile Duct Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2017 2017
CUI: C4552670
Disease: Portal Vein Thrombosis, CTCAE
Portal Vein Thrombosis, CTCAE
phenotype Finding 7 0.100 None 0
CUI: C2608055
Disease: Hereditary Renal Cell Carcinoma
Hereditary Renal Cell Carcinoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 8 2 0.020 None 1.000 2 2 2000 2002
CUI: C0029295
Disease: Oropharyngeal Neoplasms
Oropharyngeal Neoplasms
group Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 8 0.010 None 1.000 1 2003 2003
CUI: C0220647
Disease: Carcinoma of unknown primary
Carcinoma of unknown primary
disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2011 2011
CUI: C0334317
Disease: Cystadenofibroma
Cystadenofibroma
disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2012 2012