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: C4225342
Disease: RETINITIS PIGMENTOSA 71
RETINITIS PIGMENTOSA 71
disease Disease or Syndrome 2 5 0.600 1 5 2015 2015
SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY
disease Disease or Syndrome 2 6 0.400 3 6 2000 2013
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 0.400 strong 1 2013 2013
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 409 311 0.400 0
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 180 1 0.320 strong 1.000 2 2015 2015
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 61 101 0.310 1.000 1 2015 2015
CUI: C1849437
Disease: Mainzer-Saldino Disease
Mainzer-Saldino Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 4 14 0.310 1.000 1 2013 2013
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
group Digestive System Diseases; Neoplasms Neoplastic Process 322 90 0.300 1 2016 2016
CUI: C3179349
Disease: Gastrointestinal Stromal Sarcoma
Gastrointestinal Stromal Sarcoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 59 0.300 1 2016 2016
CUI: C0036069
Disease: Saldino-Noonan Syndrome
Saldino-Noonan Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 14 22 0.300 0
CUI: C0036996
Disease: Short Rib-Polydactyly Syndrome
Short Rib-Polydactyly Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 17 0.300 0
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Skin and Connective Tissue Diseases Congenital Abnormality; Disease or Syndrome 23 59 0.300 0
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 146 2 0.300 strong 0
CUI: C0024507
Disease: Majewski Syndrome
Majewski Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 17 22 0.300 0
CUI: C0014116
Disease: Endocardial Cushion Defects
Endocardial Cushion Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 49 2 0.210 1.000 2 2010 2012
CUI: C0220708
Disease: VATER Association
VATER Association
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 11 1 0.200 1 2012 2012
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
phenotype Laboratory Procedure 111 2331 0.100 2 10 2011 2013
CUI: C3549252
Disease: response to statin
response to statin
phenotype Organism Function 22 166 0.100 1 1 2011 2011
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 62 109 0.100 1 1 2016 2016
SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY
phenotype Finding 1 2 0.100 1 2 2013 2013
SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY
phenotype Finding 2 7 0.100 1 7 2013 2013
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc
phenotype Finding 62 0.100 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary
disease Congenital Abnormality 44 0.100 0
CUI: C0497247
Disease: Increase in blood pressure
Increase in blood pressure
phenotype Finding 173 14 0.100 0
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease Disease or Syndrome 63 40 0.100 0