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: C1274320
Disease: Recurrent herpes simplex infection of eye
Recurrent herpes simplex infection of eye 		disease Infections; Eye Diseases Disease or Syndrome 2 0.010 None 1.000 1 2007 2007
CUI: C0919532
Disease: Genomic Instability
Genomic Instability 		phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 5 0.300 None 1.000 1 2008 2008
CUI: C0917715
Disease: Hajdu-Cheney Syndrome
Hajdu-Cheney Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 13 0.010 None 1.000 1 2017 2017
CUI: C0279698
Disease: Squamous cell carcinoma of nasopharynx
Squamous cell carcinoma of nasopharynx 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 9 0.010 None 1.000 1 2017 2017
CUI: C3672440
Disease: Bile duct hyperplasia
Bile duct hyperplasia 		disease Disease or Syndrome 9 0.010 None 1.000 1 2018 2018
CUI: C1841984
Disease: GLOMUVENOUS MALFORMATIONS
GLOMUVENOUS MALFORMATIONS 		disease Neoplasms Disease or Syndrome 13 3 0.010 None 1.000 1 2012 2012
CUI: C1336078
Disease: Papillary renal cell carcinoma, sporadic
Papillary renal cell carcinoma, sporadic 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 17 30 0.100 None 1.000 1 2 2016 2016
CUI: C0346191
Disease: Carcinoma in situ of endometrium
Carcinoma in situ of endometrium 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 18 0.300 None 0
CUI: C0019357
Disease: Keratitis, Herpetic
Keratitis, Herpetic 		disease Infections; Eye Diseases Disease or Syndrome 23 1 0.010 None 1.000 1 2007 2007
CUI: C0153467
Disease: Malignant tumor of peritoneum
Malignant tumor of peritoneum 		disease Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 23 1 0.010 None 1.000 1 2019 2019
CUI: C0279748
Disease: Undifferentiated carcinoma of nasopharynx
Undifferentiated carcinoma of nasopharynx 		disease Neoplastic Process 23 0.010 None 1.000 1 2017 2017
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		disease Neoplasms Neoplastic Process 24 99 0.100 None 1.000 1 4 2016 2016
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 26 152 0.100 None 1.000 1 7 2016 2016
CUI: C1368275
Disease: Pigmented Basal Cell Carcinoma
Pigmented Basal Cell Carcinoma 		disease Neoplasms Neoplastic Process 28 0.300 None 1.000 1 2016 2016
CUI: C0019087
Disease: Hemorrhagic Disorders
Hemorrhagic Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 30 3 0.010 None < 0.001 1 2019 2019
CUI: C0023643
Disease: Lichen disease
Lichen disease 		disease Skin and Connective Tissue Diseases Disease or Syndrome 33 0.010 None 1.000 1 2018 2018
CUI: C1704376
Disease: Uterine Corpus Carcinosarcoma
Uterine Corpus Carcinosarcoma 		disease Neoplastic Process 33 0.010 None 1.000 1 2019 2019
CUI: C0019269
Disease: Hermaphroditism
Hermaphroditism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 34 0.010 None 1.000 1 2004 2004
CUI: C0518948
Disease: Chlamydia trachomatis infection
Chlamydia trachomatis infection 		disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome 36 1 0.010 None 1.000 1 2014 2014
CUI: C0343723
Disease: Neonatal chlamydial conjunctivitis
Neonatal chlamydial conjunctivitis 		disease Infections; Eye Diseases Disease or Syndrome 38 3 0.020 None 1.000 2 2014 2018
CUI: C0040592
Disease: Trachoma
Trachoma 		disease Infections; Eye Diseases Disease or Syndrome 39 3 0.020 None 1.000 2 2014 2018
CUI: C1333296
Disease: Activated B-cell type diffuse large B-cell lymphoma
Activated B-cell type diffuse large B-cell lymphoma 		disease Neoplastic Process 39 2 0.010 None 1.000 1 2017 2017
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 41 80 0.110 None 1.000 2 7 2016 2019
CUI: C4688007
Disease: Platinum-Resistant Ovarian Carcinoma
Platinum-Resistant Ovarian Carcinoma 		disease Neoplastic Process 41 0.010 None 1.000 1 2016 2016
CUI: C0220603
Disease: Childhood Brain Neoplasm
Childhood Brain Neoplasm 		disease Neoplasms; Nervous System Diseases Neoplastic Process 44 1 0.010 None 1.000 1 2016 2016