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: C0376524
Disease: Branchio-Oculo-Facial Syndrome
Branchio-Oculo-Facial Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 7 8 0.800 1.000 18 8 1995 2016
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.400 0.952 21 1998 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.400 0.895 19 1998 2013
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 518 42 0.400 strong 0
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.380 1.000 9 2000 2012
Congenital ocular coloboma (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 107 11 0.310 limited 1.000 2 2000 2011
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 2 2004 2011
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 41 2 0.300 1 2011 2011
CUI: C0265234
Disease: Branchio-Oto-Renal Syndrome
Branchio-Oto-Renal Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 25 0.300 1 2011 2011
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 475 0.300 1 2005 2005
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 638 93 0.300 1 2011 2011
CUI: C1970479
Disease: Branchiootorenal Syndrome 2
Branchiootorenal Syndrome 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 5 4 0.300 1 2011 2011
CUI: C0152427
Disease: Polydactyly
Polydactyly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 146 2 0.300 strong 0
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 0.300 limited 0
CUI: C2677434
Disease: OROFACIAL CLEFT 11
OROFACIAL CLEFT 11
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 4 5 0.200 1 2015 2015
CUI: C4014596
Disease: OROFACIAL CLEFT 14
OROFACIAL CLEFT 14
disease Congenital Abnormality 2 0.200 1 2015 2015
CUI: C3151222
Disease: OROFACIAL CLEFT 13
OROFACIAL CLEFT 13
disease Disease or Syndrome 2 0.200 1 2015 2015
CUI: C1837210
Disease: OROFACIAL CLEFT 5
OROFACIAL CLEFT 5
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 5 0.200 1 2015 2015
CUI: C2748505
Disease: Orofacial Cleft 12
Orofacial Cleft 12
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 0.200 1 2015 2015
CUI: C1866070
Disease: OROFACIAL CLEFT 10
OROFACIAL CLEFT 10
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 3 0.200 1 2015 2015
CUI: C1833563
Disease: Cleft Lip, Congenital Healed
Cleft Lip, Congenital Healed
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Disease or Syndrome 3 4 0.200 1 2015 2015
CUI: C1864323
Disease: OROFACIAL CLEFT 2
OROFACIAL CLEFT 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 0.200 1 2015 2015
CUI: C1842143
Disease: Orofacial Cleft 4
Orofacial Cleft 4
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 0.200 1 2015 2015
CUI: C1861537
Disease: OROFACIAL CLEFT 1
OROFACIAL CLEFT 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 11 0.200 1 2015 2015
CUI: C1833369
Disease: OROFACIAL CLEFT 3
OROFACIAL CLEFT 3
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 0.200 1 2015 2015