PARK7 (Parkinsonism associated deglycase)

Gene

• Entrez ID: 11315
• Gene name: Parkinsonism associated deglycase
• Gene symbol: PARK7
• Synonyms (NCBI Gene): DJ-1, DJ1, GATD2, HEL-S-67p
• Chromosome: 1
• Chromosome location: 1p36.23
• Summary: The product of this gene belongs to the peptidase C56 family of proteins. It acts as a positive regulator of androgen receptor-dependent transcription. It may also function as a redox-sensitive chaperone, as a sensor for oxidative stress, and it apparentl

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28938172	T>C	Pathogenic	Coding sequence variant, missense variant
rs74315351	G>A	Pathogenic	Missense variant, coding sequence variant
rs74315352	A>C	Pathogenic	Missense variant, coding sequence variant
rs74315353	G>C	Pathogenic	Missense variant, coding sequence variant
rs74315354	G>A	Pathogenic	Missense variant, coding sequence variant
rs137853051	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs200968609	TGTGCTGGACGGTGTCCC>-,TGTGCTGGACGGTGTCCCTGTGCTGGACGGTGTCCC	Pathogenic	Intron variant, upstream transcript variant, genic upstream transcript variant
rs759703272	A>-,AA	Likely-pathogenic	Frameshift variant, coding sequence variant
rs781600849	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1553122929	AG>-	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant
rs1578089802	->G	Likely-pathogenic	Splice donor variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029955	hsa-miR-26b-5p	Microarray	19088304
MIRT049137	hsa-miR-92a-3p	CLASH	23622248
MIRT046823	hsa-miR-222-3p	CLASH	23622248
MIRT046823	hsa-miR-222-3p	CLASH	23622248
MIRT040717	hsa-miR-92b-3p	CLASH	23622248
MIRT040717	hsa-miR-92b-3p	CLASH	23622248
MIRT290040	hsa-miR-5680	PAR-CLIP	20371350
MIRT562983	hsa-miR-3929	PAR-CLIP	20371350
MIRT562982	hsa-miR-4419b	PAR-CLIP	20371350
MIRT562981	hsa-miR-4478	PAR-CLIP	20371350
MIRT562980	hsa-miR-203a-3p	PAR-CLIP	20371350
MIRT562979	hsa-miR-6806-5p	PAR-CLIP	20371350
MIRT562978	hsa-miR-135b-3p	PAR-CLIP	20371350
MIRT562977	hsa-miR-3674	PAR-CLIP	20371350
MIRT562976	hsa-miR-4438	PAR-CLIP	20371350
MIRT290040	hsa-miR-5680	PAR-CLIP	20371350
MIRT562983	hsa-miR-3929	PAR-CLIP	20371350
MIRT562982	hsa-miR-4419b	PAR-CLIP	20371350
MIRT562981	hsa-miR-4478	PAR-CLIP	20371350
MIRT562980	hsa-miR-203a-3p	PAR-CLIP	20371350
MIRT562979	hsa-miR-6806-5p	PAR-CLIP	20371350
MIRT562978	hsa-miR-135b-3p	PAR-CLIP	20371350
MIRT562977	hsa-miR-3674	PAR-CLIP	20371350
MIRT562976	hsa-miR-4438	PAR-CLIP	20371350
MIRT1214300	hsa-miR-2277-3p	CLIP-seq
MIRT1214301	hsa-miR-4539	CLIP-seq
MIRT2061606	hsa-miR-1208	CLIP-seq
MIRT2061607	hsa-miR-1234	CLIP-seq
MIRT2061608	hsa-miR-1246	CLIP-seq
MIRT2061609	hsa-miR-128	CLIP-seq
MIRT2061610	hsa-miR-1303	CLIP-seq
MIRT2061611	hsa-miR-134	CLIP-seq
MIRT2061612	hsa-miR-2052	CLIP-seq
MIRT2061613	hsa-miR-216b	CLIP-seq
MIRT2061614	hsa-miR-3118	CLIP-seq
MIRT2061615	hsa-miR-3164	CLIP-seq
MIRT2061616	hsa-miR-337-5p	CLIP-seq
MIRT2061617	hsa-miR-4251	CLIP-seq
MIRT2061618	hsa-miR-4320	CLIP-seq
MIRT2061619	hsa-miR-4485	CLIP-seq
MIRT2061620	hsa-miR-452	CLIP-seq
MIRT1214301	hsa-miR-4539	CLIP-seq
MIRT2061621	hsa-miR-4676-3p	CLIP-seq
MIRT2061622	hsa-miR-4684-5p	CLIP-seq
MIRT2061623	hsa-miR-4703-3p	CLIP-seq
MIRT2061624	hsa-miR-4768-5p	CLIP-seq
MIRT2061625	hsa-miR-539	CLIP-seq
MIRT2061626	hsa-miR-548n	CLIP-seq
MIRT2061627	hsa-miR-587	CLIP-seq
MIRT2061628	hsa-miR-617	CLIP-seq
MIRT2061629	hsa-miR-758	CLIP-seq
MIRT2061611	hsa-miR-134	CLIP-seq
MIRT1214300	hsa-miR-2277-3p	CLIP-seq
MIRT2061614	hsa-miR-3118	CLIP-seq
MIRT2061615	hsa-miR-3164	CLIP-seq
MIRT2061616	hsa-miR-337-5p	CLIP-seq
MIRT2061619	hsa-miR-4485	CLIP-seq
MIRT2061623	hsa-miR-4703-3p	CLIP-seq
MIRT2061626	hsa-miR-548n	CLIP-seq
MIRT2061627	hsa-miR-587	CLIP-seq
MIRT2061628	hsa-miR-617	CLIP-seq
MIRT2061629	hsa-miR-758	CLIP-seq
MIRT2061626	hsa-miR-548n	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	IDA	16731528
GO:0001046	Function	Core promoter sequence-specific DNA binding	IC	15790595
GO:0001963	Process	Synaptic transmission, dopaminergic	IEA
GO:0002866	Process	Positive regulation of acute inflammatory response to antigenic stimulus	IEA
GO:0002866	Process	Positive regulation of acute inflammatory response to antigenic stimulus	ISS
GO:0003690	Function	Double-stranded DNA binding	IDA	22683601
GO:0003697	Function	Single-stranded DNA binding	IDA	22683601
GO:0003713	Function	Transcription coactivator activity	IGI	15790595
GO:0003713	Function	Transcription coactivator activity	TAS	16731528
GO:0003723	Function	RNA binding	IEA
GO:0003729	Function	MRNA binding	IDA	18626009
GO:0005102	Function	Signaling receptor binding	IPI	21785459
GO:0005507	Function	Copper ion binding	IDA	23792957
GO:0005515	Function	Protein binding	IPI	11477070, 15790595, 15983381, 16632486, 17510388, 18000879, 19229105, 19822128, 20127688, 20969476, 21097510, 21785459, 22683601, 23743200, 24899725, 24947010, 25416956, 26752685, 31536960, 32814053
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	11477070, 12446870, 14662519, 15790595, 15983381, 18711745, 19822128, 22683601
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	12446870, 15983381, 17510388, 18711745, 19822128
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	15790595, 15944198, 18711745, 19229105, 19822128, 23743200, 31536960
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IMP	21785459
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA	31536960
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IDA	14662519, 15944198, 19229105, 22683601
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IMP	21785459
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005912	Component	Adherens junction	HDA	25468996
GO:0006281	Process	DNA repair	IDA	28596309
GO:0006281	Process	DNA repair	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0006914	Process	Autophagy	IEA
GO:0006954	Process	Inflammatory response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006979	Process	Response to oxidative stress	IBA
GO:0006979	Process	Response to oxidative stress	IEA
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007005	Process	Mitochondrion organization	ISS
GO:0007265	Process	Ras protein signal transduction	TAS	14662519
GO:0007338	Process	Single fertilization	IEA
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008047	Function	Enzyme activator activity	IDA	23743200
GO:0008233	Function	Peptidase activity	IDA	20304780
GO:0008233	Function	Peptidase activity	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0009438	Process	Methylglyoxal metabolic process	IDA	27903648
GO:0009438	Process	Methylglyoxal metabolic process	IDA	22523093
GO:0010273	Process	Detoxification of copper ion	IEA
GO:0010273	Process	Detoxification of copper ion	IMP	23792957
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	TAS	24252804
GO:0010629	Process	Negative regulation of gene expression	IDA	22683601
GO:0016020	Component	Membrane	IEA
GO:0016532	Function	Superoxide dismutase copper chaperone activity	IDA	24567322
GO:0016605	Component	PML body	IDA	22683601
GO:0016684	Function	Oxidoreductase activity, acting on peroxide as acceptor	IBA
GO:0016684	Function	Oxidoreductase activity, acting on peroxide as acceptor	IDA	24567322
GO:0016787	Function	Hydrolase activity	IEA
GO:0019249	Process	Lactate biosynthetic process	IDA	22523093
GO:0019430	Process	Removal of superoxide radicals	IDA	24567322
GO:0019826	Function	Oxygen sensor activity	IEA
GO:0019899	Function	Enzyme binding	IPI	19703902, 19822128, 23743200
GO:0019900	Function	Kinase binding	IPI	19229105
GO:0019955	Function	Cytokine binding	IPI	21097510
GO:0030073	Process	Insulin secretion	IEA
GO:0030073	Process	Insulin secretion	ISS
GO:0030091	Process	Protein repair	IDA	25416785
GO:0030414	Function	Peptidase inhibitor activity	IDA	21097510
GO:0030424	Component	Axon	ISS
GO:0030521	Process	Androgen receptor signaling pathway	IMP	17510388
GO:0030546	Function	Signaling receptor activator activity	IDA	17510388
GO:0031334	Process	Positive regulation of protein-containing complex assembly	IDA	24947010
GO:0031397	Process	Negative regulation of protein ubiquitination	IDA	17015834
GO:0031397	Process	Negative regulation of protein ubiquitination	IDA	24899725
GO:0031397	Process	Negative regulation of protein ubiquitination	IEA
GO:0032435	Process	Negative regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA	17015834
GO:0032679	Process	Regulation of TRAIL production	IMP	21785459
GO:0032757	Process	Positive regulation of interleukin-8 production	IDA	21097510
GO:0033234	Process	Negative regulation of protein sumoylation	IDA	16731528
GO:0034599	Process	Cellular response to oxidative stress	IDA	15983381, 19703902, 20969476, 22683601
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0034599	Process	Cellular response to oxidative stress	IMP	24899725
GO:0034614	Process	Cellular response to reactive oxygen species	IEA
GO:0036470	Function	Tyrosine 3-monooxygenase activator activity	IDA	19703902
GO:0036471	Process	Cellular response to glyoxal	IDA	22523093
GO:0036471	Process	Cellular response to glyoxal	IEA
GO:0036478	Function	L-dopa decarboxylase activator activity	IDA	19703902
GO:0036524	Function	Protein deglycase activity	IDA	31653696
GO:0036524	Function	Protein deglycase activity	IDA	25416785
GO:0036524	Function	Protein deglycase activity	IMP	26995087, 30150385, 30894531
GO:0042177	Process	Negative regulation of protein catabolic process	IEA
GO:0042542	Process	Response to hydrogen peroxide	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042593	Process	Glucose homeostasis	ISS
GO:0042743	Process	Hydrogen peroxide metabolic process	IDA	24567322
GO:0042743	Process	Hydrogen peroxide metabolic process	IEA
GO:0042802	Function	Identical protein binding	IPI	15502874, 15983381, 24947010
GO:0042803	Function	Protein homodimerization activity	IDA	18711745
GO:0042803	Function	Protein homodimerization activity	IPI	24144264, 24567322
GO:0043005	Component	Neuron projection	IEA
GO:0043523	Process	Regulation of neuron apoptotic process	IDA	18711745, 20304780
GO:0043524	Process	Negative regulation of neuron apoptotic process	IDA	22511790, 22683601
GO:0044297	Component	Cell body	IEA
GO:0044388	Function	Small protein activating enzyme binding	IPI	15983381
GO:0044390	Function	Ubiquitin-like protein conjugating enzyme binding	IPI	15983381
GO:0045121	Component	Membrane raft	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045340	Function	Mercury ion binding	IDA	23792957
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	21097510
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	17015834
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	15790595
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	16731528, 19703902
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IMP	22492997
GO:0046295	Process	Glycolate biosynthetic process	IBA
GO:0046295	Process	Glycolate biosynthetic process	IDA	22523093
GO:0046295	Process	Glycolate biosynthetic process	IEA
GO:0046826	Process	Negative regulation of protein export from nucleus	IGI	15983381
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	25468996
GO:0050681	Function	Nuclear androgen receptor binding	IPI	17510388
GO:0050727	Process	Regulation of inflammatory response	IEA
GO:0050727	Process	Regulation of inflammatory response	ISS
GO:0050787	Process	Detoxification of mercury ion	IEA
GO:0050821	Process	Protein stabilization	IDA	24947010
GO:0050821	Process	Protein stabilization	IEA
GO:0050821	Process	Protein stabilization	IMP	17015834
GO:0050821	Process	Protein stabilization	IMP	17015834, 19229105
GO:0051583	Process	Dopamine uptake involved in synaptic transmission	IEA
GO:0051881	Process	Regulation of mitochondrial membrane potential	IMP	23743200
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP	22492997
GO:0051899	Process	Membrane depolarization	IEA
GO:0051920	Function	Peroxiredoxin activity	IEA
GO:0055105	Function	Ubiquitin-protein transferase inhibitor activity	IDA	24899725
GO:0060081	Process	Membrane hyperpolarization	IEA
GO:0060765	Process	Regulation of androgen receptor signaling pathway	IDA	11477070
GO:0061691	Process	Detoxification of hydrogen peroxide	IDA	14749723
GO:0061727	Process	Methylglyoxal catabolic process to lactate	IDA	28993701
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 23533145
GO:0070301	Process	Cellular response to hydrogen peroxide	IMP	22492997
GO:0070994	Process	Detection of oxidative stress	IEA
GO:0097110	Function	Scaffold protein binding	IPI	21785459
GO:0106044	Process	Guanine deglycation	IDA	28596309
GO:0106045	Process	Guanine deglycation, methylglyoxal removal	IDA	28596309
GO:0106046	Process	Guanine deglycation, glyoxal removal	IDA	28596309
GO:0110095	Process	Cellular detoxification of aldehyde	IDA	28993701
GO:0140041	Process	Cellular detoxification of methylglyoxal	IDA	28993701
GO:0140297	Function	DNA-binding transcription factor binding	IPI	15790595, 16731528
GO:1900182	Process	Positive regulation of protein localization to nucleus	IDA	21097510
GO:1900182	Process	Positive regulation of protein localization to nucleus	IMP	22492997
GO:1900242	Process	Regulation of synaptic vesicle endocytosis	IEA
GO:1902176	Process	Negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IDA	22523093
GO:1902176	Process	Negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IEA
GO:1902177	Process	Positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IEA
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IEA
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IGI	14652021
GO:1902903	Process	Regulation of supramolecular fiber organization	TAS	23626584
GO:1902958	Process	Positive regulation of mitochondrial electron transport, NADH to ubiquinone	IEA
GO:1902958	Process	Positive regulation of mitochondrial electron transport, NADH to ubiquinone	IMP	19822128
GO:1903073	Process	Negative regulation of death-inducing signaling complex assembly	IMP	21785459
GO:1903094	Process	Negative regulation of protein K48-linked deubiquitination	IDA	21097510
GO:1903122	Process	Negative regulation of TRAIL-activated apoptotic signaling pathway	IMP	21785459
GO:1903135	Function	Cupric ion binding	IDA	24567322
GO:1903136	Function	Cuprous ion binding	IDA	24144264, 24567322
GO:1903181	Process	Positive regulation of dopamine biosynthetic process	IC	16731528
GO:1903181	Process	Positive regulation of dopamine biosynthetic process	IDA	19703902
GO:1903189	Process	Glyoxal metabolic process	IBA
GO:1903189	Process	Glyoxal metabolic process	IDA	22523093
GO:1903189	Process	Glyoxal metabolic process	IEA
GO:1903190	Process	Glyoxal catabolic process	IEA
GO:1903197	Process	Positive regulation of L-dopa biosynthetic process	IMP	16731528
GO:1903376	Process	Regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA	15983381
GO:1903377	Process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA	15790595, 16632486
GO:1903377	Process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IEA
GO:1903377	Process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IMP	23743200
GO:1903384	Process	Negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway	IEA
GO:1903384	Process	Negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway	IGI	14652021
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	IEA
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	ISS
GO:1903428	Process	Positive regulation of reactive oxygen species biosynthetic process	IEA
GO:1903599	Process	Positive regulation of autophagy of mitochondrion	NAS	24531622
GO:1903751	Process	Negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide	IDA	24947010
GO:1903751	Process	Negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide	IEA
GO:1905259	Process	Negative regulation of nitrosative stress-induced intrinsic apoptotic signaling pathway	IDA	14752510
GO:1990381	Function	Ubiquitin-specific protease binding	IPI	21097510
GO:1990422	Function	Glyoxalase (glycolic acid-forming) activity	IDA	31653696
GO:2000379	Process	Positive regulation of reactive oxygen species metabolic process	IDA	20969476
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IMP	21785459

Other IDs

• MIM: 602533
• HGNC: 16369
• e!Ensembl: ENSG00000116288

Protein

• UniProt ID: Q99497
• Protein name: Parkinson disease protein 7 (Maillard deglycase) (Oncogene DJ1) (Parkinsonism-associated deglycase) (Protein DJ-1) (DJ-1) (Protein/nucleic acid deglycase DJ-1) (EC 3.1.2.-, EC 3.5.1.-, EC 3.5.1.124)
• Protein function: Multifunctional protein with controversial molecular function which plays an important role in cell protection against oxidative stress and cell death acting as oxidative stress sensor and redox-sensitive chaperone and protease (PubMed:12796482,
• PDB: 1J42, 1P5F, 1PDV, 1PDW, 1PE0, 1Q2U, 1SOA, 1UCF, 2OR3, 2R1T, 2R1U, 2R1V, 2RK3, 2RK4, 2RK6, 3B36, 3B38, 3B3A, 3BWE, 3CY6, 3CYF, 3CZ9, 3CZA, 3EZG, 3F71, 3SF8, 4BTE, 4MNT, 4MTC, 4N0M, 4N12, 4OGF, 4OQ4, 4P2G, 4P34, 4P35, 4P36, 4RKW, 4RKY, 4S0Z, 4ZGG, 5IP5, 5SY6, 5SY9, 5SYA, 6AF5, 6AF7, 6AF9, 6AFA, 6AFB, 6AFC
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01965	DJ-1_PfpI	4 → 171	DJ-1/PfpI family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in pancreas, kidney, skeletal muscle, liver, testis and heart. Detected at slightly lower levels in placenta and brain (at protein level). Detected in astrocytes, Sertoli cells, spermatogonia, spermatids and spermatozo
• Sequence:

  MASKRALVILAKGAEEMETVIPVDVMRRAGIKVTVAGLAGKDPVQCSRDVVICPDASLED
  AKKEGPYDVVVLPGGNLGAQNLSESAAVKEILKEQENRKGLIAAICAGPTALLAHEIGFG
  SKVTTHPLAKDKMMNGGHYTYSENRVEKDGLILTSRGPGTSFEFALAIVEALNGKEVAAQ
  VKAPLVLKD

• Sequence length: 189

Pathways

KEGG:

Parkinson disease
Pathways of neurodegeneration - multiple diseases

Reactome:

SUMOylation of transcription cofactors
Aggrephagy

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Amyotrophic lateral sclerosis-parkinsonism-dementia complex	Pathogenic	rs1553122918	RCV001095538
Autosomal recessive early-onset Parkinson disease 7	Likely pathogenic; Pathogenic	rs142405016, rs2151432401, rs1252815484, rs374429170, rs28938172, rs74315351, rs74315353, rs1553122929, rs781600849, rs1578089802, rs764877312	RCV001771782 RCV001806694 RCV001814642 RCV001893894 RCV000007480 RCV000007481 RCV000007483 RCV001027964 RCV000694924 RCV000991412 RCV001542552
Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1	Pathogenic	rs137853051	RCV000007485
Young-onset Parkinson disease	Likely pathogenic	rs1472900688	RCV001449624

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs74315354	-
Cervical cancer	Benign	rs11548933	RCV005891738
Cholangiocarcinoma	Benign	rs41278962	RCV005920020
Juvenile-onset Parkinson disease	Uncertain significance	rs2151436437	RCV001814644
Lung cancer	Benign	rs11548933	RCV005891740
Motor neuron disease	Uncertain significance	rs2151436437	RCV001814644
PARK7-related disorder	Benign; Likely benign	rs71653619	RCV003925652
Parkinson disease, late-onset	Uncertain significance	rs398124657	RCV000082873
Parkinson Disease, Recessive	Uncertain significance; Benign; Likely benign	rs557801400, rs11548937, rs17523802	RCV000342264 RCV000354945 RCV000287311
Renal cysts and diabetes syndrome	Benign; Likely benign	rs71653619	RCV001258287
Sarcoma	Benign	rs11548933	RCV005891739
Uterine corpus endometrial carcinoma	Benign	rs41278962, rs11548933	RCV005920021 RCV005891741

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	38095634
Adenocarcinoma of Lung	Stimulate	38304191
Adenoma	Associate	21983636
Adenomatous Polyposis Coli	Associate	21411865
AIDS Associated Nephropathy	Associate	31805958
Alzheimer Disease	Stimulate	18601999
Alzheimer Disease	Associate	31405128, 32485097
Amyotrophic Lateral Sclerosis	Associate	24567322, 25681989, 31405128, 35666053
Arthritis Rheumatoid	Associate	35896699
Asthenozoospermia	Inhibit	21575935
Asthenozoospermia	Associate	28932933
Astrocytoma	Associate	23902708
Brain Ischemia	Associate	35882968
Brain Neoplasms	Associate	25475127
Breast Neoplasms	Associate	18284189, 22404125, 24504364, 25867058, 26261582, 31839604, 32858971
Breast Neoplasms	Stimulate	38125697
Breast Neoplasms	Inhibit	39351539
Carcinogenesis	Associate	21556124, 21983636, 24207095, 25475127, 31434323, 31696470
Carcinoma	Associate	25475127
Carcinoma Ductal	Associate	22404125
Carcinoma Hepatocellular	Associate	27020667, 30402839, 32417759, 35647179, 36202793, 37749450, 38168113
Carcinoma Hepatocellular	Stimulate	35770048
Carcinoma Non Small Cell Lung	Associate	21747690, 26245297, 31434323
Carcinoma Non Small Cell Lung	Inhibit	37480966
Carcinoma Pancreatic Ductal	Associate	18706098
Carcinoma Squamous Cell	Associate	20345476, 23151319
Cell Transformation Neoplastic	Associate	32858971
Central Nervous System Infections	Associate	18601999
Chromosome 1q21.1 Deletion Syndrome 1.35 Mb	Associate	25475127
Chromosome Aberrations	Associate	12939276
Colitis Ulcerative	Inhibit	38103512
Colorectal Neoplasms	Associate	21622897, 29441725, 32132307, 32366371
Coronary Artery Disease	Associate	38275751
Diabetes Gestational	Associate	23974919
Emphysema	Associate	31474749
Endometrial Neoplasms	Associate	23727824, 24614826
Endometriosis	Stimulate	21445310
Esophageal Squamous Cell Carcinoma	Associate	36008860
Frontotemporal Dementia	Associate	31405128
Fuchs' Endothelial Dystrophy	Associate	22836768
Glioblastoma	Associate	31434323, 35441887
Glioma	Associate	21114918
Hypokinesia	Associate	29016861
Hypoxia	Inhibit	20395301
Infertility Male	Associate	21575935, 28932933
Inflammatory Bowel Diseases	Associate	38103512
Ischemia	Associate	35882968, 36341940
Laryngeal Neoplasms	Associate	21556124
Lewy Body Disease	Associate	31405128
Lung Diseases	Associate	27093578
Lung Neoplasms	Associate	26245297, 28653888
Lymphatic Metastasis	Stimulate	23727824, 24155657, 24396292
Lymphatic Metastasis	Associate	38304191
Machado Joseph Disease	Associate	22023810
Macular Degeneration	Associate	37975850
Medulloblastoma	Stimulate	25475127
Melanoma	Associate	21857157, 29734677, 38189631
Melanoma Cutaneous Malignant	Stimulate	38189631
Mesothelioma	Associate	26254420
Mesothelioma Malignant	Associate	26254420
Mitochondrial cytopathy	Stimulate	19815446
Mitochondrial Diseases	Associate	19815446, 20817635, 22428580, 22687481, 24832775, 32070881, 35124661, 37548361
Mohr Tranebjaerg syndrome	Stimulate	31696470
Movement Disorders	Associate	33539026
Muscular Diseases	Associate	18601999
Myelodysplastic Syndromes	Associate	20061558
Myopathy with Giant Abnormal Mitochondria	Associate	22428580
Myositis Inclusion Body	Associate	18601999
Nasopharyngeal Carcinoma	Associate	24396292
Neoplasm Metastasis	Associate	21114918, 23727824, 24155657, 24396292, 24504364, 32132307, 36008860, 36202793, 37749450
Neoplasm Metastasis	Inhibit	28653888, 37480966
Neoplasms	Associate	12914946, 18359981, 19874835, 20345476, 21556124, 22555455, 23151319, 23727824, 24155657, 24396292, 24504364, 24706893, 25475127, 26245297, 26261582, 27170529, 28580701, 30402839, 31434323, 32132307, 32858971, 36149939, 36202793, 37749450, 38168113, 38304191
Neoplasms	Stimulate	29441725, 35770048
Neoplasms Cystic Mucinous and Serous	Associate	26134400
Neoplasms Squamous Cell	Associate	20345476
Nerve Degeneration	Associate	20395301, 25378175, 32534165, 34155194
Neuroblastoma	Associate	19825160, 20395301, 31216127
Neurodegenerative Diseases	Associate	18922803, 22228183, 24706893, 29016861, 31405128, 32485097, 34586830, 35666053
Neurologic Manifestations	Associate	22428580, 31512170
Neurotoxicity Syndromes	Associate	29728856, 31216127
Obesity	Associate	22272336, 28274171
Oligodendroglioma	Associate	29890994
Opitz GBBB Syndrome X Linked	Associate	40363838
Ovarian Neoplasms	Associate	26134400, 27170529
Pancreatic Neoplasms	Associate	18706098, 30536312, 31696470
Pancreatitis	Associate	18706098
Parkinson Disease	Associate	12761214, 12914946, 12939276, 14607841, 14665635, 14707326, 14713311, 15502874, 15983381, 16380269, 16731528, 16997464, 17504761, 18181649, 18382667, 18436956, 18601999, 18707128, 18711745, 19146923, 19229105, 19409963, 19425177, 19703902, 19825160, 19874835, 20395301, 20527929, 20669327, 20730377, 20817635, 20837857, 21091474, 21160133, 21852238, 22023810, 22228183, 22428580, 22532838, 22554508, 22555455, 22623900, 22960331, 23183826, 23233873, 24567322, 24706893, 24935484, 25378175, 26234586, 26245297, 26274610, 26305376, 26370081, 26497684, 27048419, 27097320, 27270837, 27556455, 28124432, 28429747, 28873462, 29016861, 31216127, 31405128, 31512170, 31653696, 31700063, 31902706, 32070881, 32534165, 33002721, 33485186, 33539026, 33751372, 33947435, 34076298, 34148545, 34155194, 34419745, 34464855, 34674795, 34676411, 34696975, 35124661, 35182267, 35430350, 35500378, 35617842, 36149939, 36341940, 36469984, 36499697, 36692014, 36768161, 37101349, 37239999, 37548361, 38189631, 39456860, 40274726, 40294793, 40464736, 40479058, 40523516
Parkinson Disease	Inhibit	22019052
Parkinson Disease	Stimulate	25478574, 26627638
Parkinson Disease Secondary	Associate	11462174, 12939276, 18181649, 18601999, 18922803, 19087301, 19425177, 19815446, 20669327, 24832775, 26234586, 30237140, 30610612, 35124661, 40523516
Parkinsonian Disorders	Associate	11462174, 16997464, 18181649, 18601999, 19146923, 20940149, 22623900, 27270837, 32534165, 33751372, 35124661
Peri Implantitis	Associate	29787640
Periodontitis	Stimulate	29787640
Pre Eclampsia	Stimulate	33447996
Pre Eclampsia	Associate	35190654
Prostatic Neoplasms	Associate	24207095
Prostatitis	Associate	24207095
Pulmonary Disease Chronic Obstructive	Inhibit	33967623
Reperfusion Injury	Associate	36341940
Respiratory Insufficiency	Inhibit	32070881
Ring Chromosome 20 Syndrome	Associate	35882968
Sleep Deprivation	Inhibit	20940149
Sleep Deprivation	Associate	22428580
Small Cell Lung Carcinoma	Associate	28580701
Squamous Cell Carcinoma of Head and Neck	Associate	20345476, 21556124
Stomach Neoplasms	Associate	24155657, 33079995
Synucleinopathies	Associate	23233873
Tachycardia Atrioventricular Nodal Reentry	Associate	23151319
Thyroid cancer follicular	Associate	21983636
Tuberculosis Multidrug Resistant	Stimulate	33079995
Uniparental Disomy	Associate	34419745
Urinary Bladder Neoplasms	Associate	33001632
Uterine Cervical Neoplasms	Associate	27544688, 35636017
Venous Thromboembolism	Associate	29964323