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: 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: 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: 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: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.490 strong 0.900 10 6 2000 2019
CUI: C0086543
Disease: Cataract
Cataract 		disease Eye Diseases Acquired Abnormality 878 124 0.350 strong 1.000 6 1 2000 2012
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.040 None 1.000 4 1 2000 2019
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		disease Eye Diseases Disease or Syndrome 166 37 0.040 None 1.000 4 1 2000 2009
CUI: C0027697
Disease: Nephritis
Nephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 296 40 0.140 None 1.000 4 2000 2017
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: C1567742
Disease: Alport Syndrome, X-Linked
Alport Syndrome, X-Linked 		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 13 8 0.310 None 1.000 2 2000 2012
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		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 51 314 0.310 None 1.000 2 2000 2003
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: 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: 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: C0027706
Disease: Hereditary nephritis
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 9 1 0.300 None 1.000 1 2000 2000
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 34 31 0.100 None 0.962 26 2 2001 2019
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
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1180 140 0.200 None 0.957 46 3 2002 2020
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		group Hemic and Lymphatic Diseases Disease or Syndrome 59 5 0.060 None 1.000 6 2002 2016
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 281 50 0.400 None 0.950 20 2003 2012
CUI: C0005129
Disease: Bernard-Soulier Syndrome
Bernard-Soulier Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 46 23 0.030 None 1.000 3 2003 2010
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		disease Immune System Diseases Disease or Syndrome 447 25 0.010 None 1.000 1 2003 2003
CUI: C1332182
Disease: Adult Anaplastic Large Cell Lymphoma
Adult Anaplastic Large Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 128 2 0.010 None 1.000 1 2003 2003