SGCA, sarcoglycan alpha, 6442

N. diseases: 111; N. variants: 57
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: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 509 12 0.010 None 1.000 1 2019 2019
CUI: C0085632
Disease: Apathy
Apathy
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 83 9 0.010 None 1.000 1 2017 2017
CUI: C0042693
Disease: Violence
Violence
phenotype Mental or Behavioral Dysfunction 70 6 0.010 None 1.000 1 2020 2020
CUI: C0233397
Disease: Psychological symptom
Psychological symptom
phenotype Sign or Symptom 33 12 0.010 None 1.000 1 2019 2019
CUI: C1456418
Disease: Absence of muscle
Absence of muscle
disease Congenital Abnormality 12 2 0.010 None 1.000 1 2015 2015
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 565 20 0.010 None 1.000 1 2019 2019
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.010 None 1.000 1 2004 2004
CUI: C1540600
Disease: Cerebral seizure
Cerebral seizure
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 0.010 None 1.000 1 2002 2002
Limb-girdle muscular dystrophy type 2F
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 5 12 0.010 None < 0.001 1 2017 2017
CUI: C1839780
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME
FRAGILE X TREMOR/ATAXIA SYNDROME
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 62 0.010 None 1.000 1 2009 2009
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases
group Nervous System Diseases Disease or Syndrome 171 50 0.010 None 1.000 1 2014 2014
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis
disease Neoplasms; Immune System Diseases; Nervous System Diseases Disease or Syndrome 336 93 0.010 None 1.000 1 2019 2019
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
disease Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 45 9 0.010 None 1.000 1 2005 2005
CUI: C0085633
Disease: Mood swings
Mood swings
disease Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 171 1 0.010 None 1.000 1 2018 2018
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 683 29 0.010 None 1.000 1 2018 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.010 None 1.000 1 2018 2018
Childhood Embryonal Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 67 7 0.010 None 1.000 1 2010 2010
CUI: C0342257
Disease: Complications of Diabetes Mellitus
Complications of Diabetes Mellitus
group Endocrine System Diseases Disease or Syndrome 240 35 0.010 None 1.000 1 2020 2020
CUI: C0237123
Disease: Alcohol or Other Drugs use
Alcohol or Other Drugs use
disease Mental or Behavioral Dysfunction 108 21 0.010 None 1.000 1 2017 2017
CUI: C0454643
Disease: Word finding difficulty (disorder)
Word finding difficulty (disorder)
phenotype Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2001 2001
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
phenotype Mental Disorders Mental or Behavioral Dysfunction 508 121 0.010 None 1.000 1 2018 2018
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 126 4 0.010 None 1.000 1 2019 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
group Cardiovascular Diseases Disease or Syndrome 925 294 0.010 None 1.000 1 1993 1993
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
disease Mental Disorders Mental or Behavioral Dysfunction 430 96 0.010 None 1.000 1 2018 2018
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 517 12 0.010 None 1.000 1 2019 2019