TMEM43, transmembrane protein 43, 79188

N. diseases: 78; N. variants: 5
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: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		phenotype Musculoskeletal Diseases; Nervous System Diseases Pathologic Function 115 16 0.100 None 0
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		phenotype Respiratory Tract Diseases Finding 85 3 0.100 None 0
CUI: C3160712
Disease: Palpitations, CTCAE
Palpitations, CTCAE 		phenotype Finding 64 0.100 None 0
CUI: C2063326
Disease: Right ventricular cardiomyopathy
Right ventricular cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 15 4 0.100 None 0
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 121 8 0.100 None 0
CUI: C1866013
Disease: Proximal upper limb amyotrophy
Proximal upper limb amyotrophy 		phenotype Finding 9 0.100 None 0
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
Proximal muscle weakness in upper limbs 		phenotype Finding 22 3 0.100 None 0
CUI: C1866010
Disease: Proximal muscle weakness in lower limbs
Proximal muscle weakness in lower limbs 		phenotype Finding 30 4 0.100 None 0
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype Finding 55 3 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype Finding 165 0.100 None 0
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		phenotype Finding 28 2 0.100 None 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy 		disease Disease or Syndrome 29 1 0.100 None 0
CUI: C1839653
Disease: Decreased cervical spine flexion due to contractures of posterior cervical muscles
Decreased cervical spine flexion due to contractures of posterior cervical muscles 		phenotype Finding 7 0.100 None 0
CUI: C1836767
Disease: Proximal lower limb amyotrophy
Proximal lower limb amyotrophy 		phenotype Finding 15 4 0.100 None 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		phenotype Finding 73 3 0.100 None 0
CUI: C0240479
Disease: Neck muscle weakness
Neck muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 49 1 0.100 None 0
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0024003
Disease: Lordosis
Lordosis 		phenotype Musculoskeletal Diseases Disease or Syndrome 160 15 0.100 None 0
CUI: C0023787
Disease: Lipodystrophy
Lipodystrophy 		disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 226 28 0.100 None 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 194 18 0.100 None 0
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.100 None 0
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 0
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36 0.100 None 0