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.
Cutis Gyrata Syndrome of Beare And Stevenson
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 2 0.970 1.000 9 2 1996 2015
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 7 18 0.900 1.000 42 15 1995 2018
CUI: C1510455
Disease: Acrocephalosyndactylia
Acrocephalosyndactylia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 2 1 0.880 15 1 1997 2010
CUI: C0001193
Disease: Apert syndrome
Apert syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 18 10 0.800 1.000 58 6 1995 2016
CUI: C0795998
Disease: JACKSON-WEISS SYNDROME
JACKSON-WEISS SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 6 0.750 1.000 13 5 1995 2016
Antley-Bixler Syndrome, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nutritional and Metabolic Diseases Disease or Syndrome 12 4 0.740 1.000 17 2 1993 2016
CUI: C3281247
Disease: BENT BONE DYSPLASIA SYNDROME
BENT BONE DYSPLASIA SYNDROME
disease Disease or Syndrome 2 2 0.720 1.000 4 2 2012 2018
Lacrimoauriculodentodigital syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome 4 8 0.720 1.000 3 3 2006 2008
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 213 37 0.700 strong 0.896 79 11 1995 2018
CUI: C0010273
Disease: Craniofacial Dysostosis
Craniofacial Dysostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 6 32 0.700 1.000 63 29 1990 2016
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 8 31 0.700 1.000 49 28 1995 2015
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma
disease Female Urogenital Diseases and Pregnancy Complications; Neoplasms Neoplastic Process 839 145 0.700 1.000 28 4 1995 2018
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
disease Behavior and Behavior Mechanisms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders; Musculoskeletal Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome 1 1 0.700 3 1 2005 2007
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 21 10 0.640 0.750 9 1 1997 2016
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
disease Neoplastic Process 282 228 0.630 0.667 4 3 2014 2017
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 834 23 0.620 6 1 1999 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.610 strong 1.000 3 2006 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.600 0.948 98 10 1991 2018
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 2397 341 0.600 1.000 29 1 1995 2018
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.500 0.953 119 19 1996 2018
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
disease Neoplastic Process 2377 364 0.500 1.000 40 1 1993 2017
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.500 0.889 20 4 1991 2016
CUI: C1863389
Disease: Apert-Crouzon Disease
Apert-Crouzon Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 2 3 0.500 11 3 1995 2009
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 1187 428 0.420 1.000 4 5 2008 2017
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 23 7 0.410 1.000 4 1997 2006