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: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME
disease Hemic and Lymphatic Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 13 11 0.900 0.979 50 10 2000 2016
CUI: C1863659
Disease: DEAFNESS, AUTOSOMAL DOMINANT 17
DEAFNESS, AUTOSOMAL DOMINANT 17
disease Hemic and Lymphatic Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 2 0.610 1.000 10 2 1998 2016
CUI: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly
phenotype Finding 1 15 0.600 26 15 1972 2017
CUI: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder)
disease Disease or Syndrome 1 7 0.560 1.000 12 7 2000 2013
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder)
disease Disease or Syndrome 2 7 0.540 1.000 9 7 2001 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 5053 1365 0.530 1.000 4 2008 2017
MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS
disease Hemic and Lymphatic Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 1 0.500 1 1 2003 2003
CUI: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 518 42 0.450 strong 1.000 5 2000 2010
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 436 101 0.400 0.955 23 5 2008 2016
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 154 17 0.400 1.000 20 2003 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 4962 1839 0.330 1.000 4 2008 2017
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 28 4 0.310 1.000 2 2000 2003
CUI: C1567742
Disease: Alport Syndrome, X-Linked
Alport Syndrome, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 11 509 0.310 1.000 2 2000 2013
CUI: C1305904
Disease: Familial hematuria
Familial hematuria
disease Disease or Syndrome 12 4 0.310 strong 1.000 2 1 2000 2013
CUI: C1257931
Disease: Mammary Neoplasms, Human
Mammary Neoplasms, Human
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 475 0.300 1 2017 2017
CUI: C1863660
Disease: COCHLEOSACCULAR DEGENERATION
COCHLEOSACCULAR DEGENERATION
phenotype Finding 1 1 0.300 1 1 2000 2000
CUI: C0027626
Disease: Neoplasm Invasiveness
Neoplasm Invasiveness
phenotype Neoplasms; Pathological Conditions, Signs and Symptoms Pathologic Function 182 0.300 1 2017 2017
CUI: C0027706
Disease: Hereditary nephritis
Hereditary nephritis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 9 1 0.300 1 2000 2000
CUI: C2931861
Disease: Hemorrhagic hereditary nephritis
Hemorrhagic hereditary nephritis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 2 0.300 1 2000 2000
CUI: C0020544
Disease: Renal hypertension
Renal hypertension
disease Cardiovascular Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 28 2 0.300 1 2008 2008
CUI: C0206692
Disease: Carcinoma, Lobular
Carcinoma, Lobular
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 57 1 0.300 1 2017 2017
CUI: C0086432
Disease: Hyalinosis, Segmental Glomerular
Hyalinosis, Segmental Glomerular
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 28 0.300 1 2008 2008
CUI: C1567743
Disease: Alport Syndrome, Autosomal Dominant
Alport Syndrome, Autosomal Dominant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 3 10 0.300 1 2000 2000
Alport Syndrome, Autosomal Recessive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 5 25 0.300 1 2000 2000
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2386 303 0.300 1 2017 2017