PRKN, parkin RBR E3 ubiquitin protein ligase, 5071

N. diseases: 42; N. variants: 45
Source: CURATED ×
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: rs11759064
rs11759064 		1.000 0.080 6 162379633 intron variant C/T snv 0.22
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs117673608
rs117673608 		1.000 0.040 6 161931643 intron variant G/A snv 1.3E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 1 2017 2017
dbSNP: rs12175475
rs12175475 		1.000 0.120 6 162250424 intron variant A/T snv 2.1E-02
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs13191362
rs13191362 		6 162612318 intron variant A/G snv 8.7E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 6 2015 2019
dbSNP: rs13191362
rs13191362 		6 162612318 intron variant A/G snv 8.7E-02
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs13191362
rs13191362 		6 162612318 intron variant A/G snv 8.7E-02
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs137853054
rs137853054 		0.882 0.160 6 161973317 missense variant G/A;C;T snv 3.7E-04; 4.0E-06; 8.0E-06
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.800 1.000 32 1998 2015
dbSNP: rs137853054
rs137853054 		0.882 0.160 6 161973317 missense variant G/A;C;T snv 3.7E-04; 4.0E-06; 8.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs137853055
rs137853055 		1.000 0.040 6 161569357 stop gained G/A snv
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.710 1.000 0 1998 1998
dbSNP: rs137853056
rs137853056 		1.000 0.040 6 161350139 stop gained C/T snv
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 0
dbSNP: rs137853057
rs137853057 		1.000 0.040 6 162201182 missense variant T/A snv
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.800 1.000 21 1998 2013
dbSNP: rs137853058
rs137853058 		0.882 0.120 6 161973401 missense variant C/T snv 1.2E-05
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.800 1.000 21 1998 2013
dbSNP: rs137853059
rs137853059 		1.000 0.040 6 162443314 missense variant A/T snv 1.6E-05 2.1E-05
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 1.000 21 1998 2013
dbSNP: rs137853060
rs137853060 		1.000 0.040 6 161973403 missense variant T/A snv 2.0E-05
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.800 1.000 21 1998 2013
dbSNP: rs140594067
rs140594067 		6 161689529 intron variant G/A snv 9.8E-05
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs146167165
rs146167165 		6 162633261 intron variant C/T snv 1.5E-02
CUI: C0043094
Disease: Weight Gain
Weight Gain 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs146977322
rs146977322 		6 161699571 intron variant C/A snv
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs147757966
rs147757966 		0.925 0.040 6 162443383 missense variant C/A;G;T snv 4.0E-06; 8.8E-05
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.800 1.000 9 2005 2016
dbSNP: rs148990138
rs148990138 		1.000 0.040 6 162443371 missense variant G/A snv 1.9E-04 2.4E-04
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 1.000 20 1998 2011
dbSNP: rs149953814
rs149953814 		1.000 0.040 6 161350187 missense variant G/A snv 1.6E-03 2.2E-03
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 1.000 21 1998 2013
dbSNP: rs150562946
rs150562946 		0.882 0.040 6 161785877 missense variant G/A snv 4.2E-04 4.5E-04
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 1.000 20 1998 2011
dbSNP: rs150562946
rs150562946 		0.882 0.040 6 161785877 missense variant G/A snv 4.2E-04 4.5E-04
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 1.000 4 2003 2018
dbSNP: rs1562430103
rs1562430103 		1.000 0.040 6 161973301 splice donor variant C/T snv
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 1.000 2 1999 2012
dbSNP: rs1562485799
rs1562485799 		1.000 0.040 6 162054149 stop gained A/C snv
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.700 0
dbSNP: rs191486604
rs191486604 		1.000 0.040 6 161350208 missense variant C/T snv 6.0E-05 1.3E-04
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.800 1.000 12 2004 2015