MYH8, myosin heavy chain 8, 4626

N. diseases: 39; N. variants: 3
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: C0265226
Disease: Hecht syndrome (disorder)
Hecht syndrome (disorder)
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 5 1 0.730 None 1.000 7 1 1996 2017
CUI: C1837245
Disease: Carney Complex Variant
Carney Complex Variant
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome 2 1 0.700 None 1.000 1 1 2004 2004
CUI: C0265213
Disease: Distal arthrogryposis syndrome
Distal arthrogryposis syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 22 15 0.130 None 1.000 3 2004 2013
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.110 None 1.000 1 2004 2004
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion
disease Stomatognathic Diseases Congenital Abnormality 181 19 0.110 None 1.000 1 2011 2011
CUI: C1960546
Disease: Myxoma of heart
Myxoma of heart
disease Neoplasms; Cardiovascular Diseases Neoplastic Process 23 0.110 None 1.000 1 2004 2004
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 285 44 0.110 None 1.000 1 2011 2011
CUI: C0262929
Disease: Myxoma of the Endocardium
Myxoma of the Endocardium
disease Neoplasms Neoplastic Process 28 0.110 None 1.000 1 2004 2004
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C1136179
Disease: Hammer Toe
Hammer Toe
phenotype Musculoskeletal Diseases Anatomical Abnormality 46 11 0.100 None 0
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
phenotype Pathological Conditions, Signs and Symptoms Finding 109 13 0.100 None 0
CUI: C1834737
Disease: Cutaneous syndactyly of toes
Cutaneous syndactyly of toes
disease Congenital Abnormality 5 1 0.100 None 0
CUI: C1857108
Disease: Limitation of joint mobility
Limitation of joint mobility
phenotype Finding 84 3 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
Symphalangism affecting the phalanges of the hand
disease Anatomical Abnormality 13 0.100 None 0
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature
phenotype Anatomical Abnormality 24 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
CUI: C0041105
Disease: Trismus
Trismus
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 18 2 0.100 None 0
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus
disease Musculoskeletal Diseases Anatomical Abnormality 41 3 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0
CUI: C0013336
Disease: Dwarfism
Dwarfism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality 1261 77 0.100 None 0
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 586 53 0.100 None 0
CUI: C0033377
Disease: Ptosis
Ptosis
disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12 0.100 None 0
CUI: C0332878
Disease: Congenital contracture
Congenital contracture
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 31 3 0.020 None 1.000 2 2005 2011