TNPO3, transportin 3, 23534

N. diseases: 66; N. variants: 25
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: rs1563083759
rs1563083759 		0.925 0.120 7 128957260 frameshift variant G/- del
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1563083759
rs1563083759 		0.925 0.120 7 128957260 frameshift variant G/- del
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		0.700 0
dbSNP: rs1563083759
rs1563083759 		0.925 0.120 7 128957260 frameshift variant G/- del
CUI: C0427064
Disease: Pelvic girdle weakness
Pelvic girdle weakness 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1563083759
rs1563083759 		0.925 0.120 7 128957260 frameshift variant G/- del
CUI: C0560346
Disease: Difficulty running
Difficulty running 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1563083759
rs1563083759 		0.925 0.120 7 128957260 frameshift variant G/- del
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1563083759
rs1563083759 		0.925 0.120 7 128957260 frameshift variant G/- del
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs587777430
rs587777430 		1.000 0.120 7 128957256 frameshift variant T/- del
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs750548861
rs750548861 		7 128957259 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4013182
Disease: Caused by mutation in the transportin 3 gene (TNPO3, 610032.0001)
Caused by mutation in the transportin 3 gene (TNPO3, 610032.0001) 		0.700 0
dbSNP: rs2280714
rs2280714 		0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.060 1.000 6 2006 2017
dbSNP: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.830 1.000 7 2008 2016
dbSNP: rs10239340
rs10239340 		1.000 0.080 7 129028456 intron variant T/A;G snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 3 2008 2014
dbSNP: rs10279821
rs10279821 		1.000 0.080 7 129043493 intron variant T/A;C snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs2280714
rs2280714 		0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 5 2009 2015
dbSNP: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 2 2009 2010
dbSNP: rs2280714
rs2280714 		0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 1.000 2 2009 2013
dbSNP: rs2280714
rs2280714 		0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs2280714
rs2280714 		0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.810 1.000 5 2010 2019
dbSNP: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.820 1.000 4 2010 2016
dbSNP: rs12531711
rs12531711 		0.827 0.200 7 128977412 intron variant A/C;G snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.800 1.000 3 2011 2017
dbSNP: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs12531711
rs12531711 		0.827 0.200 7 128977412 intron variant A/C;G snv
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2011 2011