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: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 30 33 1.000 strong 0.986 72 20 1995 2019
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 18 28 0.700 strong 1.000 20 12 1997 2015
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 43 8 0.620 None 1.000 3 2002 2010
CUI: C1867146
Disease: Robinow Sorauf syndrome
Robinow Sorauf syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 1 0.600 strong 1.000 2 1 1997 1998
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 20 0.600 None 1.000 2 2002 2007
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.500 None 0.977 43 1 1994 2018
CUI: C4540299
Disease: SWEENEY-COX SYNDROME
SWEENEY-COX SYNDROME 		disease Disease or Syndrome 2 1 0.420 None 1.000 2 1 2017 2018
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 25 0.410 None 1.000 2 2002 2010
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.400 None 0.980 149 2004 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.400 None 0.933 15 2004 2019
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 0.400 None 1.000 1 2002 2002
CUI: C1863370
Disease: Saethre-Chotzen Syndrome with Eyelid Anomalies
Saethre-Chotzen Syndrome with Eyelid Anomalies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 1 1 0.400 None 1.000 1 1 2001 2001
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 74 12 0.400 None 1.000 1 2007 2007
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 3 1 0.320 None 1.000 4 2002 2013
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.320 None 1.000 3 2007 2009
CUI: C0152427
Disease: Polydactyly
Polydactyly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 188 43 0.320 strong 1.000 3 1998 2018
CUI: C0001193
Disease: Apert syndrome
Apert syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 20 24 0.310 None 1.000 3 2005 2013
CUI: C2931150
Disease: Synostotic Anterior Plagiocephaly
Synostotic Anterior Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 0.310 None 1.000 2 2002 2004
CUI: C1863389
Disease: Apert-Crouzon Disease
Apert-Crouzon Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 0.300 None 1.000 2 2005 2013
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 36 0.300 None 1.000 2 2005 2013
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Pathologic Function 193 0.300 None 1.000 1 2012 2012
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 28 5 0.300 None 1.000 1 2002 2002
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		disease Digestive System Diseases; Neoplasms Neoplastic Process 312 119 0.300 None 1.000 1 2009 2009
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 52 7 0.300 None 1.000 1 2002 2002
CUI: C0206180
Disease: Ki-1+ Anaplastic Large Cell Lymphoma
Ki-1+ Anaplastic Large Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 300 10 0.300 None 1.000 1 2012 2012