MYH14, myosin heavy chain 14, 79784

N. diseases: 64; N. variants: 9
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: C3280556
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS 		disease Disease or Syndrome 1 1 0.710 None 1.000 4 1 2011 2018
CUI: C0345218
Disease: Low anorectal malformation
Low anorectal malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 1 0.300 None 1.000 1 2017 2017
CUI: C0026244
Disease: Mitochondrial Swelling
Mitochondrial Swelling 		phenotype Cell or Molecular Dysfunction 1 0.100 None 0
CUI: C1833503
Disease: Deafness, Autosomal Dominant 4
Deafness, Autosomal Dominant 4 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 2 6 0.710 None 1.000 5 6 2004 2019
CUI: C2936864
Disease: Bardet-Biedl syndrome 4 (disorder)
Bardet-Biedl syndrome 4 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 4 9 0.010 None 1.000 1 1999 1999
CUI: C4023965
Disease: Structural foot deformity
Structural foot deformity 		phenotype Musculoskeletal Diseases Anatomical Abnormality 5 1 0.100 None 0
CUI: C0202455
Disease: Platinum measurement
Platinum measurement 		phenotype Laboratory Procedure 6 7 0.100 None 1.000 1 1 2019 2019
CUI: C0848765
Disease: Hearing disability
Hearing disability 		disease Disease or Syndrome 6 2 0.010 None 1.000 1 2004 2004
CUI: C1842160
Disease: MYOPATHY, MYOSIN STORAGE (disorder)
MYOPATHY, MYOSIN STORAGE (disorder) 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 15 0.020 None 1.000 2 2005 2017
CUI: C0854078
Disease: Diabetic end stage renal disease
Diabetic end stage renal disease 		disease Disease or Syndrome 7 1 0.010 None 1.000 1 2012 2012
CUI: C1836609
Disease: Progressive distal muscle weakness
Progressive distal muscle weakness 		phenotype Finding 14 4 0.100 None 0
CUI: C4021082
Disease: Fatty replacement of skeletal muscle
Fatty replacement of skeletal muscle 		phenotype Finding 17 4 0.100 None 0
CUI: C4021533
Disease: Severe sensorineural hearing impairment
Severe sensorineural hearing impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 23 5 0.010 None 1.000 1 2017 2017
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		phenotype Finding 50 4 0.100 None 0
CUI: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity 		phenotype Finding 58 5 0.100 None 0
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		disease Nervous System Diseases Disease or Syndrome 64 20 0.010 None 1.000 1 2017 2017
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		group Musculoskeletal Diseases Anatomical Abnormality 66 5 0.100 None 0
CUI: C0016169
Disease: pathologic fistula
pathologic fistula 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 71 8 0.010 None 1.000 1 2017 2017
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 74 15 0.100 None 0
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 78 28 0.100 None 0
CUI: C0019825
Disease: Hoarseness
Hoarseness 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Sign or Symptom 84 3 0.110 None < 0.001 1 2011 2011
CUI: C0810364
Disease: Cleft Lip with or without Cleft Palate
Cleft Lip with or without Cleft Palate 		disease Congenital Abnormality 99 50 0.010 None 1.000 1 2008 2008
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease Disease or Syndrome 106 7 0.100 None 0
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.010 None 1.000 1 2017 2017
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 112 11 0.100 None 0