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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Amyotrophic lateral sclerosis-parkinsonism-dementia complex	Pathogenic	rs1553122918	RCV001095538	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1	Pathogenic	rs137853051	RCV000007485	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Young-onset Parkinson disease	Likely pathogenic	rs1472900688	RCV001449624	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS, PARKINSONISM, DEMENTIA COMPLEX	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BEHCET'S SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENTEROCOLITIS, NECROTIZING	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile-onset Parkinson disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor neuron disease	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OSTEOPOROSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARK7-related disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, ClinGen, Disgenet, GWAS catalog CTD, ClinGen, Disgenet, GWAS catalog CTD, ClinGen, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson disease, late-onset	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Parkinson Disease, Recessive	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON-DEMENTIA COMPLEX OF GUAM	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal cysts and diabetes syndrome	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YOUNG ONSET PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abnormal male sexual function	Abnormal Male Sexual Function	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	18706098		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	22985211		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18601999	Stimulate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	31405128, 32485097	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	24567322, 25681989, 31405128, 35666053	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	30210287		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form	Amyotrophic lateral sclerosis	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anxiety	Anxiety Disorder	BEFREE	31504219		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31504219		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	35896699	Associate	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	21575935	Inhibit	★☆☆☆☆ Found in Text Mining only
Asthenozoospermia	Asthenozoospermia	Pubtator	28932933	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	23902708	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	31349020		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26419955		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Juvenile Parkinson Disease	Parkinson Disease	CTD_human_DG	23046578, 26558463		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	CTD_human_DG	23046578, 26558463		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	BEFREE	14638971, 15368505, 16997464, 26873851, 26972524		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	CTD_human_DG	23046578, 26558463		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	26723136		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	15368505		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	35882968	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	25475127	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23765085, 25867058, 28963699		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18284189, 22404125, 24504364, 25867058, 26261582, 31839604, 32858971	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	38125697	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39351539	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	21556124, 21983636, 24207095, 25475127, 31434323, 31696470	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	22385318		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	25475127	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	22404125	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27020667, 30402839, 32417759, 35647179, 36202793, 37749450, 38168113	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35770048	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	20300974, 21556124		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28653888		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	18706098	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	20345476, 23151319	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASCAT_DG	24262325		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	GWASDB_DG	24262325		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	29697269		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	29447925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	18556627		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	38103512	Inhibit	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30410397		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30410397		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17949781		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21622897, 29441725, 32132307, 32366371	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22544372		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	38275751	Associate	★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Sporadic	Creutzfeldt-Jakob disease	BEFREE	27975168		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	26192919, 26974007		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	15542239, 19735092		★☆☆☆☆ Found in Text Mining only
Dementia of frontal lobe type	Dementia Of Frontal Lobe	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29936932		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	23974919	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29936932		★☆☆☆☆ Found in Text Mining only
Ductal Carcinoma	Ductal Carcinoma	BEFREE	22385318		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	31474749	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	23727824, 24614826	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	21445310	Stimulate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	26419955		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	36008860	Associate	★☆☆☆☆ Found in Text Mining only
Familial Juvenile Parkinsonism	Parkinsonian disease	CTD_human_DG	23046578, 26558463		★☆☆☆☆ Found in Text Mining only
Female sexual dysfunction	Female sexual dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	31405128	Associate	★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	22836768		★☆☆☆☆ Found in Text Mining only
Fuchs' Endothelial Dystrophy	Fuchs endothelial dystrophy	Pubtator	22836768	Associate	★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20497343		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31434323, 35441887	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	LHGDN	17034344		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	21114918	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25286751		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	20395301	Inhibit	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23462481		★☆☆☆☆ Found in Text Mining only
Infertility Male	Male infertility	Pubtator	21575935, 28932933	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASDB_DG	23128233		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	23128233, 28067908		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	38103512	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28458339		★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	21556124	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	21556124, 25892179		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27748821		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	14625045		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	31405128	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21472284		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	25384406		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	27093578	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26245297, 28653888	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	23727824, 24155657, 24396292	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	38304191	Associate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	37975850	Associate	★☆☆☆☆ Found in Text Mining only
Male sexual dysfunction	Male sexual dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23765085, 25867058, 28963699		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28653888		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17510388, 31404106		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17015834, 22544372, 22985211, 29545914, 30410397		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30410397		★☆☆☆☆ Found in Text Mining only
Mastocytosis, Systemic	Mastocytosis	BEFREE	27611333		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	25475127	Stimulate	★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	16570276		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	21857157, 29734677, 38189631	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	38189631	Stimulate	★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	26254420	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	26254420	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28224045		★☆☆☆☆ Found in Text Mining only
Miller Dieker syndrome	Miller Dieker Syndrome	BEFREE	20061558		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	19815446, 20817635, 22428580, 22687481, 24832775, 32070881, 35124661, 37548361	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	LHGDN	16240358		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Movement Disorders	Movement Disorders	BEFREE	31504219		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	33539026	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	18632777		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	20673799		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	20061558		★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	20061558	Associate	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	18601999	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	24396292	Associate	★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	CTD_human_DG	18806098		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24396292, 29635082, 30410397		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	15944198, 27114059, 28446034		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19825160, 20395301, 31216127	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	18922803, 22228183, 24706893, 29016861, 31405128, 32485097, 34586830, 35666053	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	14705119, 28444544, 28458339, 31669752		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	14705119		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	26245297		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22272336, 28274171	Associate	★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	29890994	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis, Age-Related	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Senile	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26134400, 27170529	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	18706098, 30536312, 31696470	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	18706098	Associate	★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	12446870, 14607841, 14625045, 14665635, 14707326, 14713311, 14991385, 15304593, 15519239, 15525661, 15784737, 15790595, 15944198, 16781058, 17015834, 17331951, 17504761, 17599367, 18162323, 18711745, 19276614, 19293155, 19405094, 19686841, 19716892, 19825160, 19968671, 20087465, 20089532, 20202083, 20406884, 20671441, 21097510, 21535932, 21645620, 21664494, 21796667, 22041943, 22173095, 22526393, 22532838, 22664331, 23026478, 23241025, 23462481, 23536331, 23765085, 23766857, 23792957, 24046356, 24899725, 25210784, 26024237, 26419955, 27270837, 27509531, 27556455, 28224045, 28446034, 28458339, 28506137, 28705587, 28785216, 28993701, 29016861, 29021755, 29030185, 29097687, 29147899, 29147904, 29241707, 29258409, 29315581, 29386384, 29700116, 30011180, 30048497, 30112966, 30562574, 30755590, 30789733, 30863299, 31054074, 31218647, 31353306, 31404106, 31504219, 31512170, 31734455		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	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	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	12851414, 14557580, 14712351, 14872018, 15219840, 15254937, 15304593, 15365989, 15503154, 15717024, 15944198, 16632486, 17015834, 17504761, 18045143, 18707128, 18841573		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	15784737, 17010972, 20423725, 20800516, 22043175, 22898350, 23037695, 23792957, 25149416		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	22019052	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	25478574, 26627638	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	CTD_human_DG	23046578, 26558463		★☆☆☆☆ Found in Text Mining only
Parkinson Disease 6, Autosomal Recessive Early-Onset	Parkinson disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	Parkinson disease	GENOMICS_ENGLAND_DG	12446870		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	Parkinson disease	UNIPROT_DG	12446870, 12851414, 12953260, 14607841, 14713311, 15254937, 15365989, 17846173, 19229105, 22523093, 23792957, 23847046		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	Parkinson disease	BEFREE	14707326, 15365989, 15717024, 22956510, 23986421, 27534820, 27619486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	Parkinson disease	CTD_human_DG	28348719		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	Parkinson disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	11462174, 12939276, 18181649, 18601999, 18922803, 19087301, 19425177, 19815446, 20669327, 24832775, 26234586, 30237140, 30610612, 35124661, 40523516	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	15944198		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Parkinson-dementia complex of Guam	Guam parkinsonism dementia complex	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	BEFREE	11462174, 11835383, 12446870, 12548343, 12815653, 14598065, 15372597, 15542239, 15565491, 15721235, 16894167, 18722801, 19087301, 19425177, 20146068, 20607337, 20806408, 21317550, 22166450, 23462481, 30578832		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson disease	Pubtator	11462174, 16997464, 18181649, 18601999, 19146923, 20940149, 22623900, 27270837, 32534165, 33751372, 35124661	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	LHGDN	12446870, 12548343, 14985393, 15018843, 16331561		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	CTD_human_DG	23046578, 26558463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonism, Juvenile	Parkinsonian disease	CTD_human_DG	23046578, 26558463		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	29787640		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	29787640	Stimulate	★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	26419955		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	14991385		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	LHGDN	17487420		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Osteoporosis	Osteoporosis	CTD_human_DG	18924182		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	15542239, 19735092		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14654946, 17510388, 31404106		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24207095	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	33967623	Inhibit	★☆☆☆☆ Found in Text Mining only
Ramsay Hunt Paralysis Syndrome	Ramsay Hunt Paralysis Syndrome	CTD_human_DG	23046578, 26558463		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	22544372		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	27735193, 30542343		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	20940149	Inhibit	★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	22428580	Associate	★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	28580701	Associate	★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA 17	Spinocerebellar Ataxia	BEFREE	19014922, 20004653		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20345476, 21556124	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24155657, 33079995	Associate	★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	14705119, 14991385		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	LHGDN	17085780		★☆☆☆☆ Found in Text Mining only
Thyroid cancer follicular	Follicular thyroid cancer	Pubtator	21983636	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	26419955		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	21297633		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	21297633, 26192919, 26974007, 28067908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	33001632	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	27544688, 35636017	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	29964323	Associate	★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	12953260, 14625045, 14872018, 15108293, 15254937, 15372597, 15790532, 16240358, 18707128, 18722801, 19023331, 20527929, 22571429, 22956510, 23986421, 24052110, 24176883, 28789629, 29147901, 30928208		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Young-onset Parkinson disease	Parkinson disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)