MYH9, myosin heavy chain 9, 4627

N. diseases: 196; N. variants: 38
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: C0403445
Disease: Fechtner syndrome (disorder)
Fechtner syndrome (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 2 0.570 definitive 1.000 18 2 1998 2015
CUI: C0398641
Disease: Epstein syndrome (disorder)
Epstein syndrome (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 1 0.560 definitive 1.000 17 1 1998 2019
CUI: C1842035
Disease: Giant Platelet Syndrome with Thrombocytopenia
Giant Platelet Syndrome with Thrombocytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 1 0.500 definitive 1.000 11 1998 2015
CUI: C1863659
Disease: DEAFNESS, AUTOSOMAL DOMINANT 17
DEAFNESS, AUTOSOMAL DOMINANT 17 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 2 0.710 None 1.000 11 2 1998 2016
CUI: C1861512
Disease: Cochleosaccular degeneration of the inner ear and progressive cataracts
Cochleosaccular degeneration of the inner ear and progressive cataracts 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 1 0.020 None 0.500 2 1 2000 2006
CUI: C1834478
Disease: MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS
MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 1 0.300 None 1.000 1 2003 2003
CUI: C4054945
Disease: Focal Segmental Glomerulosclerosis Collapsing Variant
Focal Segmental Glomerulosclerosis Collapsing Variant 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1 0.010 None 1.000 1 2011 2011
CUI: C4280711
Disease: Leukocyte inclusion bodies
Leukocyte inclusion bodies 		phenotype Finding 1 0.400 strong 1.000 1 2012 2012
CUI: C2931716
Disease: Deafness, autosomal dominant nonsyndromic sensorineural 17
Deafness, autosomal dominant nonsyndromic sensorineural 17 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.300 None 0
CUI: C4021547
Disease: Neutrophil inclusion bodies
Neutrophil inclusion bodies 		phenotype Finding 1 0.100 None 0
CUI: C4022866
Disease: Abnormal platelet shape
Abnormal platelet shape 		disease Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C0277792
Disease: Pathognomonic sign
Pathognomonic sign 		phenotype Sign or Symptom 2 0.020 None 0.500 2 2010 2015
CUI: C1275236
Disease: Fibroma of tendon sheath
Fibroma of tendon sheath 		disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2016 2016
CUI: C2931861
Disease: Hemorrhagic hereditary nephritis
Hemorrhagic hereditary nephritis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 2 0.300 None 1.000 1 2000 2000
CUI: C0477317
Disease: Other primary thrombocytopenia
Other primary thrombocytopenia 		group Hemic and Lymphatic Diseases Disease or Syndrome 3 0.500 definitive 1.000 11 1998 2015
CUI: C0015366
Disease: Extramedullary hematopoiesis of spleen
Extramedullary hematopoiesis of spleen 		disease Hemic and Lymphatic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C0155778
Disease: Varicose veins of lower extremity
Varicose veins of lower extremity 		disease Cardiovascular Diseases Disease or Syndrome 4 1 0.010 None 1.000 1 2016 2016
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; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 5 0.300 None 1.000 1 2000 2000
CUI: C3536572
Disease: End stage renal disease due to hypertension
End stage renal disease due to hypertension 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Disease or Syndrome 5 2 0.010 None 1.000 1 2009 2009
CUI: C0848765
Disease: Hearing disability
Hearing disability 		disease Disease or Syndrome 6 2 0.010 None 1.000 1 1 2010 2010
CUI: C0854078
Disease: Diabetic end stage renal disease
Diabetic end stage renal disease 		disease Disease or Syndrome 7 1 0.040 None 1.000 4 2010 2012
CUI: C1865871
Disease: HEMANGIOMA, CAPILLARY INFANTILE
HEMANGIOMA, CAPILLARY INFANTILE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Disease or Syndrome 7 5 0.100 None 0 1
CUI: C0154971
Disease: Presenile cataract
Presenile cataract 		disease Eye Diseases Disease or Syndrome 8 2 0.110 None 1.000 1 2012 2012
CUI: C1567744
Disease: Alport Syndrome, Autosomal Recessive
Alport Syndrome, Autosomal Recessive 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases Disease or Syndrome 8 2 0.300 None 1.000 1 2000 2000
CUI: C4304021
Disease: Autosomal dominant macrothrombocytopenia
Autosomal dominant macrothrombocytopenia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 0.020 None 1.000 2 2001 2001