SGCD, sarcoglycan delta, 6444

N. diseases: 68; N. variants: 35
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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		disease Eye Diseases Disease or Syndrome 685 663 0.030 None 1.000 3 3 2009 2019
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.300 None 1.000 1 2013 2013
CUI: C1145628
Disease: Autonomic nervous system disorders
Autonomic nervous system disorders 		group Nervous System Diseases Disease or Syndrome 73 7 0.010 None 1.000 1 2014 2014
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		phenotype Finding 46 5 0.100 None 0
CUI: C0741933
Disease: cardiac symptom
cardiac symptom 		phenotype Sign or Symptom 9 2 0.010 None 1.000 1 2001 2001
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.580 None 0.900 10 1 1997 2015
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary 		group Cardiovascular Diseases Disease or Syndrome 108 1 0.300 None 1.000 2 2010 2014
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group Cardiovascular Diseases Disease or Syndrome 512 509 0.400 None 1.000 12 1999 2018
CUI: C1847667
Disease: CARDIOMYOPATHY, DILATED, 1L
CARDIOMYOPATHY, DILATED, 1L 		disease Cardiovascular Diseases Disease or Syndrome 1 8 0.900 None 1.000 9 8 1997 2017
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		disease Cardiovascular Diseases Disease or Syndrome 773 243 0.060 None 0.833 6 1 2000 2016
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.100 None 1.000 1 1 2016 2016
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 54 20 0.010 None 1.000 1 1997 1997
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.160 None 1.000 6 2000 2017
CUI: C0009917
Disease: Contracture
Contracture 		disease Musculoskeletal Diseases Anatomical Abnormality 111 12 0.010 None 1.000 1 1 2016 2016
CUI: C0010073
Disease: Coronary Artery Vasospasm
Coronary Artery Vasospasm 		disease Cardiovascular Diseases Disease or Syndrome 30 9 0.020 None 1.000 2 2007 2012
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		disease Cardiovascular Diseases Disease or Syndrome 1576 1178 0.010 None 1.000 1 2019 2019
CUI: C0948698
Disease: Coronary spastic angina
Coronary spastic angina 		phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom 4 1 0.010 None 1.000 1 2007 2007
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 0.100 None 0
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.110 None 1.000 2 1 2013 2019
CUI: C0311394
Disease: Difficulty walking
Difficulty walking 		phenotype Pathological Conditions, Signs and Symptoms Finding 224 30 0.100 None 0
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: C0013363
Disease: Dysautonomia
Dysautonomia 		disease Nervous System Diseases Disease or Syndrome 148 18 0.010 None 1.000 1 2014 2014
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 130 12 0.100 None 0
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 182 3 0.100 None 0
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.030 None 1.000 3 2000 2009