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: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBROOCULOFACIOSKELETAL SYNDROME 4 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 1 3 0.700 None 1.000 2 3 2007 2013
CUI: C0277827
Disease: Early fontanel closure
Early fontanel closure 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 2 0.100 None 0
CUI: C1859312
Disease: CAMFAK syndrome
CAMFAK syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 0.300 None 1.000 1 2007 2007
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 3 0.200 None 1.000 1 2006 2006
CUI: C2931277
Disease: Pena Shokeir syndrome Type 2
Pena Shokeir syndrome Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 0.300 None 1.000 1 2007 2007
CUI: C1864761
Disease: Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Metabolism, Abnormal 		disease Endocrine System Diseases Disease or Syndrome 4 5 0.100 None 0 1
CUI: C1720811
Disease: Tumor of Rete Testis
Tumor of Rete Testis 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 6 0.300 None 1.000 1 2010 2010
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
Cerebrooculofacioskeletal Syndrome 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 7 58 0.320 None 1.000 2 1 2007 2015
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 8 31 0.100 None 1.000 14 4 1993 2017
CUI: C1406835
Disease: Flexion contracture of toe
Flexion contracture of toe 		phenotype Finding 10 0.100 None 0
CUI: C0677984
Disease: Locally Advanced Malignant Neoplasm
Locally Advanced Malignant Neoplasm 		disease Neoplastic Process 11 0.010 None 1.000 1 2008 2008
CUI: C0278983
Disease: Non-small cell lung cancer stage IIIA
Non-small cell lung cancer stage IIIA 		disease Neoplastic Process 12 0.010 None 1.000 1 2010 2010
CUI: C0278952
Disease: Nasopharyngeal cancer recurrent
Nasopharyngeal cancer recurrent 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 13 0.010 None 1.000 1 2013 2013
CUI: C0153453
Disease: Malignant tumor of extrahepatic bile duct
Malignant tumor of extrahepatic bile duct 		disease Digestive System Diseases; Neoplasms Neoplastic Process 14 0.010 None 1.000 1 2014 2014
CUI: C0205852
Disease: Neoplasms, Embryonal and Mixed
Neoplasms, Embryonal and Mixed 		disease Neoplasms Neoplastic Process 15 0.300 None 1.000 1 2010 2010
CUI: C0278584
Disease: Metastatic Carcinoma to the Uterine Cervix
Metastatic Carcinoma to the Uterine Cervix 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 15 0.010 None 1.000 1 2017 2017
CUI: C0751365
Disease: Cancer, Embryonal and Mixed
Cancer, Embryonal and Mixed 		disease Neoplasms Neoplastic Process 15 0.300 None 1.000 1 2010 2010
CUI: C0004403
Disease: Autosome Abnormalities
Autosome Abnormalities 		group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 None 1.000 1 2013 2013
CUI: C0008625
Disease: Chromosome Aberrations
Chromosome Aberrations 		group Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 16 0.300 None 1.000 1 2013 2013
CUI: C0039584
Disease: Testicular Diseases
Testicular Diseases 		group Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 16 1 0.010 None 1.000 1 2010 2010
CUI: C1377919
Disease: Stage IV Nasopharyngeal Carcinoma
Stage IV Nasopharyngeal Carcinoma 		disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process 16 1 0.010 None 1.000 1 2014 2014
CUI: C4528408
Disease: Advanced Head and Neck Squamous Cell Carcinoma
Advanced Head and Neck Squamous Cell Carcinoma 		disease Neoplastic Process 17 0.020 None 1.000 2 2007 2015
CUI: C0280218
Disease: stage, bladder cancer
stage, bladder cancer 		phenotype Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 17 2 0.010 None 1.000 1 2016 2016
CUI: C4725076
Disease: Advanced Urothelial Carcinoma
Advanced Urothelial Carcinoma 		disease Neoplastic Process 18 0.030 None 1.000 3 2010 2017
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 56 0.010 None 1.000 1 2012 2012