PLEC, plectin, 5339

N. diseases: 218; N. variants: 35
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: rs1060499581
rs1060499581 		0.827 0.160 8 143934427 stop gained G/A snv
CUI: C0432317
Disease: Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Ogna type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1060499581
rs1060499581 		0.827 0.160 8 143934427 stop gained G/A snv
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1060499581
rs1060499581 		0.827 0.160 8 143934427 stop gained G/A snv
CUI: C2677349
Disease: Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysis Bullosa Simplex With Pyloric Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1060499581
rs1060499581 		0.827 0.160 8 143934427 stop gained G/A snv
CUI: C4225309
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY 		0.700 0
dbSNP: rs1060499581
rs1060499581 		0.827 0.160 8 143934427 stop gained G/A snv
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.700 0
dbSNP: rs137853160
rs137853160 		1.000 0.080 8 143934923 stop gained G/A snv
CUI: C2677349
Disease: Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysis Bullosa Simplex With Pyloric Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs137853161
rs137853161 		1.000 0.080 8 143920817 stop gained G/A;C snv 4.2E-06
CUI: C2677349
Disease: Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysis Bullosa Simplex With Pyloric Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs374419983
rs374419983 		1.000 8 143939416 stop gained G/A;C snv 8.1E-06; 8.1E-06
CUI: C4225309
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY
EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY 		0.700 0
dbSNP: rs387906801
rs387906801 		1.000 0.160 8 143923841 stop gained G/A snv
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs387906802
rs387906802 		1.000 0.160 8 143923055 stop gained G/A snv 2.1E-05
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs786205251
rs786205251 		1.000 0.160 8 143924146 frameshift variant -/GGATCTCC delins
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs786205253
rs786205253 		1.000 0.160 8 143924195 frameshift variant G/- del
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs786205254
rs786205254 		1.000 0.160 8 143924898 frameshift variant GCCGCGCC/- delins
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs864309671
rs864309671 		1.000 0.080 8 143930143 coding sequence variant TGACGGCCTCCTGG/- delins
CUI: C2677349
Disease: Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysis Bullosa Simplex With Pyloric Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs864309672
rs864309672 		1.000 0.080 8 143933998 splice region variant C/T snv 4.3E-06
CUI: C2677349
Disease: Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysis Bullosa Simplex With Pyloric Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs864309673
rs864309673 		1.000 8 143973464 start lost CATGCCGGC/- delins
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.700 0
dbSNP: rs864309674
rs864309674 		1.000 0.160 8 143917858 frameshift variant -/C delins
CUI: C2931072
Disease: Epidermolysa bullosa simplex and limb girdle muscular dystrophy
Epidermolysa bullosa simplex and limb girdle muscular dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs879255260
rs879255260 		1.000 0.080 8 143933210 stop gained G/A snv
CUI: C0432317
Disease: Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Ogna type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs782052037
rs782052037 		8 143932986 missense variant G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs782699072
rs782699072 		8 143934399 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs80338756
rs80338756 		0.925 0.080 8 143924012 missense variant G/A;C;T snv
CUI: C0432317
Disease: Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Ogna type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 1 2002 2002
dbSNP: rs80338756
rs80338756 		0.925 0.080 8 143924012 missense variant G/A;C;T snv
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1554689309
rs1554689309 		0.827 0.160 8 143922314 frameshift variant AGGC/- delins
CUI: C2677349
Disease: Epidermolysis Bullosa Simplex With Pyloric Atresia
Epidermolysis Bullosa Simplex With Pyloric Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 3 1996 2010
dbSNP: rs1554689309
rs1554689309 		0.827 0.160 8 143922314 frameshift variant AGGC/- delins
CUI: C0432317
Disease: Epidermolysis bullosa simplex, Ogna type
Epidermolysis bullosa simplex, Ogna type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 3 1996 2010
dbSNP: rs1554689309
rs1554689309 		0.827 0.160 8 143922314 frameshift variant AGGC/- delins
CUI: C3150989
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 		0.700 1.000 3 1996 2010