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: 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: rs778305273
rs778305273 		1.000 0.040 6 161350176 missense variant A/G snv 5.2E-05
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: rs397514694
rs397514694 		1.000 0.040 6 161350205 missense variant C/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: 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
dbSNP: rs778125254
rs778125254 		1.000 0.040 6 161360129 missense variant G/T snv 8.0E-06
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: rs55830907
rs55830907 		1.000 0.040 6 161360169 missense variant G/A snv 1.9E-03 1.9E-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: 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: rs992037
rs992037 		6 161580404 intron variant T/C snv 0.71
CUI: C0523760
Disease: Lysine measurement
Lysine measurement 		0.700 1.000 1 2008 2008
dbSNP: rs992037
rs992037 		6 161580404 intron variant T/C snv 0.71
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2008 2008
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: 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: rs7769089
rs7769089 		6 161726695 intron variant A/T snv 0.26
CUI: C1096202
Disease: Lipoprotein (a) measurement
Lipoprotein (a) measurement 		0.700 1.000 1 2015 2015
dbSNP: rs926849
rs926849 		1.000 0.040 6 161740587 intron variant C/T snv 0.67
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		Musculoskeletal Diseases 0.800 1.000 1 2013 2013
dbSNP: rs55961220
rs55961220 		1.000 0.040 6 161785778 missense variant 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: rs751037529
rs751037529 		0.925 0.040 6 161785793 missense variant C/G snv 1.2E-05
CUI: C1868675
Disease: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE 		Nervous System Diseases 0.810 1.000 1 2013 2016
dbSNP: rs72480422
rs72480422 		0.925 0.040 6 161785805 missense variant C/A;T snv 4.0E-06; 1.6E-04
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 1.000 4 2003 2018
dbSNP: rs34424986
rs34424986 		0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 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 33 1998 2015
dbSNP: rs34424986
rs34424986 		0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06
CUI: C4275179
Disease: Young onset Parkinson disease
Young onset Parkinson disease 		Nervous System Diseases 0.710 1.000 18 1999 2016
dbSNP: rs34424986
rs34424986 		0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06
CUI: C3160718
Disease: PARKINSON DISEASE, LATE-ONSET
PARKINSON DISEASE, LATE-ONSET 		0.700 1.000 4 2003 2018
dbSNP: rs34424986
rs34424986 		0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.700 0
dbSNP: rs34424986
rs34424986 		0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.720 0.500 0 2015 2020
dbSNP: rs34424986
rs34424986 		0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06
CUI: C1843632
Disease: LEPROSY, SUSCEPTIBILITY TO, 2
LEPROSY, SUSCEPTIBILITY TO, 2 		0.700 0
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