EMD, emerin, 2010

N. diseases: 163; N. variants: 29
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894805
rs104894805 		1.000 0.120 X 154380980 missense variant C/A;T snv
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 4 1999 2004
dbSNP: rs104894806
rs104894806 		1.000 0.120 X 154380979 missense variant C/A snv
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 4 1999 2004
dbSNP: rs267606782
rs267606782 		0.925 0.120 X 154379485 start lost A/G snv
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 4 1994 2015
dbSNP: rs727503036
rs727503036 		X 154380232 splice acceptor variant A/G snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.700 1.000 6 1975 1999
dbSNP: rs1557182670
rs1557182670 		1.000 0.120 X 154381052 frameshift variant G/- delins
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 4 1995 2005
dbSNP: rs1557182560
rs1557182560 		1.000 0.120 X 154380783 stop gained G/T snv
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 1996 2011
dbSNP: rs1557182661
rs1557182661 		1.000 0.120 X 154381032 stop gained G/A snv
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 3 1996 2011
dbSNP: rs730880352
rs730880352 		X 154381072 frameshift variant -/TGGGC delins
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.700 1.000 3 1995 2007
dbSNP: rs1557182611
rs1557182611 		1.000 0.120 X 154380916 stop gained C/T snv
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 1996 2005
dbSNP: rs1557182654
rs1557182654 		1.000 0.120 X 154381013 frameshift variant CA/- del
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 1996 2005
dbSNP: rs727504901
rs727504901 		X 154379688 splice acceptor variant A/G snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		Nervous System Diseases 0.700 1.000 2 1995 2007
dbSNP: rs876661345
rs876661345 		1.000 0.120 X 154379754 frameshift variant -/C delins
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2007 2011
dbSNP: rs1557182214
rs1557182214 		0.925 0.120 X 154379567 splice donor variant G/T snv
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 1995 1995
dbSNP: rs1557182214
rs1557182214 		0.925 0.120 X 154379567 splice donor variant G/T snv
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 1.000 1 1995 1995
dbSNP: rs1557182692
rs1557182692 		0.925 0.120 X 154381106 frameshift variant TCTGG/- del
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 1999 1999
dbSNP: rs1557182692
rs1557182692 		0.925 0.120 X 154381106 frameshift variant TCTGG/- del
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		0.700 1.000 1 1999 1999
dbSNP: rs1557182692
rs1557182692 		0.925 0.120 X 154381106 frameshift variant TCTGG/- del
CUI: C0409338
Disease: Flexion contracture - elbow
Flexion contracture - elbow 		0.700 1.000 1 1999 1999
dbSNP: rs1060502612
rs1060502612 		1.000 0.120 X 154379730 stop gained C/A snv
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs132630262
rs132630262 		1.000 0.120 X 154379737 stop gained C/T snv
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs148515772
rs148515772 		X 154380902 missense variant G/A snv 8.2E-05 8.5E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1557182301
rs1557182301 		1.000 0.120 X 154379740 frameshift variant -/G delins
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1557182317
rs1557182317 		0.925 0.160 X 154379790 frameshift variant -/T delins
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1557182317
rs1557182317 		0.925 0.160 X 154379790 frameshift variant -/T delins
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs1557182317
rs1557182317 		0.925 0.160 X 154379790 frameshift variant -/T delins
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1557182364
rs1557182364 		1.000 0.120 X 154379968 frameshift variant -/AT delins
CUI: C0751337
Disease: X-Linked Emery-Dreifuss Muscular Dystrophy
X-Linked Emery-Dreifuss Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0