PARK7, Parkinsonism associated deglycase, 11315

N. diseases: 161; N. variants: 15
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: rs71653619
rs71653619 		1.000 0.040 1 7970934 missense variant G/A snv 7.9E-03 7.0E-03
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2006 2007
dbSNP: rs1290094897
rs1290094897 		1.000 0.040 1 7962815 synonymous variant G/T snv 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs1290094897
rs1290094897 		1.000 0.040 1 7962815 synonymous variant G/T snv 4.0E-06
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs145196092
rs145196092 		1.000 0.040 1 7970960 missense variant G/A;C;T snv 4.0E-06; 4.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs35675666
rs35675666 		1.000 0.040 1 7961913 5 prime UTR variant G/C;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs35675666
rs35675666 		1.000 0.040 1 7961913 5 prime UTR variant G/C;T snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs71653619
rs71653619 		1.000 0.040 1 7970934 missense variant G/A snv 7.9E-03 7.0E-03
CUI: C0700075
Disease: Motor restlessness
Motor restlessness 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs71653619
rs71653619 		1.000 0.040 1 7970934 missense variant G/A snv 7.9E-03 7.0E-03
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs71653619
rs71653619 		1.000 0.040 1 7970934 missense variant G/A snv 7.9E-03 7.0E-03
CUI: C0392156
Disease: Akathisia
Akathisia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs7517357
rs7517357 		1.000 0.040 1 7965215 intron variant C/T snv 0.14
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs137853051
rs137853051 		1.000 0.040 1 7965348 missense variant G/A;T snv
CUI: C1853833
Disease: Parkinson Disease 6, Autosomal Recessive Early-Onset
Parkinson Disease 6, Autosomal Recessive Early-Onset 		Nervous System Diseases 0.700 0
dbSNP: rs781600849
rs781600849 		1.000 0.040 1 7965336 frameshift variant -/T delins 7.0E-06
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		Nervous System Diseases 0.700 0
dbSNP: rs74315353
rs74315353 		0.925 0.040 1 7965425 missense variant G/C snv 7.0E-06
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		Nervous System Diseases 0.810 1.000 13 2003 2013
dbSNP: rs74315353
rs74315353 		0.925 0.040 1 7965425 missense variant G/C snv 7.0E-06
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs3766606
rs3766606 		0.827 0.120 1 7962137 intron variant G/T snv 0.22
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 3 2015 2017
dbSNP: rs3766606
rs3766606 		0.827 0.120 1 7962137 intron variant G/T snv 0.22
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 2 2015 2016
dbSNP: rs3766606
rs3766606 		0.827 0.120 1 7962137 intron variant G/T snv 0.22
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3766606
rs3766606 		0.827 0.120 1 7962137 intron variant G/T snv 0.22
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3766606
rs3766606 		0.827 0.120 1 7962137 intron variant G/T snv 0.22
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs3766606
rs3766606 		0.827 0.120 1 7962137 intron variant G/T snv 0.22
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs74315351
rs74315351 		0.807 0.080 1 7962863 missense variant G/A snv
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		Nervous System Diseases 0.800 1.000 13 2003 2013
dbSNP: rs74315352
rs74315352 		0.807 0.080 1 7984930 missense variant A/C snv 1.4E-04 5.9E-04
CUI: C1853445
Disease: PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET 		Nervous System Diseases 0.800 1.000 13 2003 2013
dbSNP: rs74315351
rs74315351 		0.807 0.080 1 7962863 missense variant G/A snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.050 0.600 5 2003 2016
dbSNP: rs74315351
rs74315351 		0.807 0.080 1 7962863 missense variant G/A snv
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		Nervous System Diseases 0.020 1.000 2 2009 2010
dbSNP: rs74315351
rs74315351 		0.807 0.080 1 7962863 missense variant G/A snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2005 2005