SGCG, sarcoglycan gamma, 6445

N. diseases: 93; N. variants: 33
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: C1858726
Disease: Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Congenital Cataracts, Facial Dysmorphism, And Neuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 2 1 0.010 None 1.000 1 2014 2014
CUI: C0429349
Disease: EMG positive sharp waves
EMG positive sharp waves 		phenotype Finding 2 0.100 None 0
CUI: C1963159
Disease: Left Ventricular Systolic Dysfunction, CTCAE 3.0
Left Ventricular Systolic Dysfunction, CTCAE 3.0 		phenotype Finding 2 1 0.100 None 0
CUI: C4021661
Disease: Abnormal macrophage morphology
Abnormal macrophage morphology 		phenotype Finding 2 0.100 None 0
CUI: C4553199
Disease: Left Ventricular Systolic Dysfunction, CTCAE 5.0
Left Ventricular Systolic Dysfunction, CTCAE 5.0 		phenotype Finding 2 1 0.100 None 0
CUI: C1257753
Disease: Child Malnutrition
Child Malnutrition 		disease Nutritional and Metabolic Diseases Disease or Syndrome 3 0.010 None 1.000 1 2017 2017
CUI: C4025576
Disease: EMG: myotonic runs
EMG: myotonic runs 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 3 1 0.100 None 0
CUI: C4022169
Disease: EMG: myotonic discharges
EMG: myotonic discharges 		phenotype Finding 4 3 0.100 None 0
CUI: C0344893
Disease: Right ventricular dilatation
Right ventricular dilatation 		disease Congenital Abnormality 6 1 0.100 None 0
CUI: C1850848
Disease: Muscle fiber necrosis
Muscle fiber necrosis 		phenotype Pathologic Function 7 0.100 None 0
CUI: C4022161
Disease: Increased endomysial connective tissue
Increased endomysial connective tissue 		disease Anatomical Abnormality 10 0.100 None 0
CUI: C1843570
Disease: Tip-toe gait
Tip-toe gait 		phenotype Finding 11 1 0.100 None 0
CUI: C1263858
Disease: Muscular dystrophy congenital, merosin negative
Muscular dystrophy congenital, merosin negative 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 12 109 0.010 None 1.000 1 2018 2018
CUI: C3542021
Disease: Duchenne and Becker Muscular Dystrophy
Duchenne and Becker Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2008 2008
CUI: C0410173
Disease: Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder)
Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 14 24 1.000 strong 1.000 41 23 1995 2018
CUI: C0085131
Disease: Gangliosidosis GM1
Gangliosidosis GM1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 14 31 0.010 None 1.000 1 2014 2014
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 17 108 0.010 None 1.000 1 2012 2012
CUI: C1839666
Disease: Calf muscle pseudohypertrophy
Calf muscle pseudohypertrophy 		phenotype Finding 17 0.100 None 0
CUI: C2936331
Disease: Sarcoglycanopathies
Sarcoglycanopathies 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 20 3 0.070 None 1.000 7 1997 2019
CUI: C0600241
Disease: heroin abuse
heroin abuse 		disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 22 6 0.010 None 1.000 1 2018 2018
CUI: C1849140
Disease: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 23 240 0.020 None 1.000 2 1999 2009
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 29 3 0.100 None 0
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 30 59 0.020 None 0.500 2 2000 2017
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		phenotype Finding 30 0.100 None 0
CUI: C0410264
Disease: Contracture of tendo achilles
Contracture of tendo achilles 		disease Anatomical Abnormality 32 6 0.100 None 0