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: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.350 strong 1.000 6 1 2000 2012
CUI: C0022548
Disease: Keloid
Keloid
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality 165 15 0.010 None 1.000 1 2013 2013
CUI: C4022866
Disease: Abnormal platelet shape
Abnormal platelet shape
disease Anatomical Abnormality 1 1 0.100 None 0 1
CUI: C4025731
Disease: Abnormal thrombosis
Abnormal thrombosis
disease Anatomical Abnormality 13 1 0.100 None 0
CUI: C0562350
Disease: Hip circumference
Hip circumference
phenotype Clinical Attribute 68 116 0.100 None 1.000 1 1 2018 2018
Cleft Lip with or without Cleft Palate
disease Congenital Abnormality 99 50 0.020 None 1.000 2 2009 2010
CUI: C0009691
Disease: Congenital cataract
Congenital cataract
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases Congenital Abnormality 105 104 0.010 None 1.000 1 2018 2018
CUI: C0158646
Disease: Cleft palate with cleft lip
Cleft palate with cleft lip
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 119 43 0.010 None 1.000 1 2009 2009
CUI: C0340803
Disease: Capillary malformation (disorder)
Capillary malformation (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 40 13 0.010 None 1.000 1 2013 2013
Malformations of Cortical Development, Group II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 180 101 0.010 None 1.000 1 2018 2018
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 13 1.000 definitive 0.984 61 13 1998 2019
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: C0340978
Disease: May-Hegglin anomaly
May-Hegglin anomaly
phenotype Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 12 19 1.000 definitive 1.000 44 17 1998 2020
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: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.400 None 0.952 21 5 2008 2015
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.200 None 1.000 21 1 2005 2020
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: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.100 None 0.950 20 5 2008 2015
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: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.100 None 0.882 17 3 2009 2018
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.200 None 1.000 11 2 2008 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
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