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: C1863753
Disease: LIMB-MAMMARY SYNDROME
LIMB-MAMMARY SYNDROME 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 120 1 0.010 None 1.000 1 2012 2012
CUI: C0234535
Disease: Clonic Seizures
Clonic Seizures 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 122 0.010 None 1.000 1 2018 2018
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.100 None 0
CUI: C1569637
Disease: Adenocarcinoma, Endometrioid
Adenocarcinoma, Endometrioid 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 130 4 0.010 None 1.000 1 2004 2004
CUI: C0153014
Disease: Non-arthropod borne lymphocytic choriomeningitis
Non-arthropod borne lymphocytic choriomeningitis 		disease Infections; Nervous System Diseases Disease or Syndrome 133 0.020 None 1.000 2 2017 2017
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 140 72 0.010 None 1.000 1 2016 2016
CUI: C0014173
Disease: Endometrial Hyperplasia
Endometrial Hyperplasia 		disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 143 6 0.020 None 1.000 2 2004 2017
CUI: C0024266
Disease: Lymphocytic Choriomeningitis
Lymphocytic Choriomeningitis 		disease Infections; Nervous System Diseases Disease or Syndrome 147 0.020 None 1.000 2 2017 2017
CUI: C0010692
Disease: Cystitis
Cystitis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 149 0.010 None 1.000 1 2013 2013
CUI: C0334463
Disease: Malignant Fibrous Histiocytoma
Malignant Fibrous Histiocytoma 		disease Neoplasms Neoplastic Process 150 3 0.010 None 1.000 1 2012 2012
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 155 33 0.010 None 1.000 1 2014 2014
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma 		disease Neoplasms Neoplastic Process 162 7 0.010 None 1.000 1 2012 2012
CUI: C0002448
Disease: Ameloblastoma
Ameloblastoma 		disease Neoplasms Neoplastic Process 174 4 0.010 None 1.000 1 2004 2004
CUI: C0240066
Disease: Iron deficiency
Iron deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 179 13 0.010 None 1.000 1 2016 2016
CUI: C0085655
Disease: Polymyositis
Polymyositis 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 183 22 0.010 None 1.000 1 1990 1990
CUI: C0262584
Disease: Carcinoma, Small Cell
Carcinoma, Small Cell 		disease Neoplasms Neoplastic Process 185 7 0.010 None 1.000 1 2006 2006
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		group Skin and Connective Tissue Diseases Disease or Syndrome 188 24 0.010 None 1.000 1 1990 1990
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm 		disease Neoplasms Neoplastic Process 193 12 0.010 None 1.000 1 2014 2014
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 202 16 0.030 None 1.000 3 2011 2020
CUI: C0206687
Disease: Carcinoma, Endometrioid
Carcinoma, Endometrioid 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 223 12 0.020 None 1.000 2 2004 2017
CUI: C0007129
Disease: Merkel cell carcinoma
Merkel cell carcinoma 		disease Neoplasms; Infections Neoplastic Process 226 10 0.010 None 1.000 1 2008 2008
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		disease Neoplastic Process 245 80 0.010 None 1.000 1 2013 2013
CUI: C0017152
Disease: Gastritis
Gastritis 		disease Digestive System Diseases Disease or Syndrome 292 21 0.010 None 1.000 1 2008 2008
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
Familial multiple trichoepitheliomata 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 317 32 0.010 None 1.000 1 2005 2005