PRKN (parkin RBR E3 ubiquitin protein ligase)

Gene

• Entrez ID: 5071
• Gene name: Parkin RBR E3 ubiquitin protein ligase
• Gene symbol: PRKN
• Synonyms (NCBI Gene): AR-JP, LPRS2, PARK2, PDJ
• Chromosome: 6
• Chromosome location: 6q26
• Summary: The precise function of this gene is unknown; however, the encoded protein is a component of a multiprotein E3 ubiquitin ligase complex that mediates the targeting of substrate proteins for proteasomal degradation. Mutations in this gene are known to caus

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34424986	G>A,T	Pathogenic	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant
rs55774500	G>A,T	Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, non coding transcript variant, coding sequence variant, missense variant
rs55777503	CT>-	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs55830907	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs137853054	G>A,C,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs137853055	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs137853056	C>T	Likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs137853057	T>A	Pathogenic	Missense variant, non coding transcript variant, intron variant, coding sequence variant
rs137853058	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs137853060	T>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs138920699	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs147757966	C>A,G,T	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, missense variant
rs149953814	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs191486604	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs368134308	C>A,G,T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs377554392	A>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs397514694	C>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs746646126	->AC	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs747427602	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs747624684	->GTG	Likely-pathogenic	Intron variant, non coding transcript variant, coding sequence variant, inframe insertion
rs751037529	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs754809877	T>-	Pathogenic	Intron variant, non coding transcript variant, coding sequence variant, frameshift variant
rs778125254	G>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1562430103	C>T	Likely-pathogenic	Splice donor variant
rs1562485799	A>C	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs1582953433	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1583215504	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT516520	hsa-miR-483-5p	PAR-CLIP	23446348
MIRT516519	hsa-miR-4755-3p	PAR-CLIP	23446348
MIRT516518	hsa-miR-193b-5p	PAR-CLIP	23446348
MIRT516517	hsa-miR-548s	PAR-CLIP	23446348
MIRT516516	hsa-miR-4701-5p	PAR-CLIP	23446348
MIRT516515	hsa-miR-588	PAR-CLIP	23446348
MIRT516514	hsa-miR-4435	PAR-CLIP	23446348
MIRT516512	hsa-miR-3187-3p	PAR-CLIP	23446348
MIRT516513	hsa-miR-1303	PAR-CLIP	23446348
MIRT727013	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT727014	hsa-miR-19b-3p	HITS-CLIP	22473208

Transcription factors

Transcription factor	Regulation	Reference
SIM2	Unknown	15963499

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	23985028
GO:0000139	Component	Golgi membrane	IEA
GO:0000151	Component	Ubiquitin ligase complex	IBA
GO:0000151	Component	Ubiquitin ligase complex	IDA	12150907, 17314283, 23933751
GO:0000209	Process	Protein polyubiquitination	IDA	12150907, 16227987, 18541373, 19880420
GO:0000209	Process	Protein polyubiquitination	IMP	32047033
GO:0000266	Process	Mitochondrial fission	ISS
GO:0000422	Process	Autophagy of mitochondrion	IDA	25621951
GO:0000422	Process	Autophagy of mitochondrion	IMP	19029340, 23933751, 24896179
GO:0000423	Process	Mitophagy	IBA
GO:0000423	Process	Mitophagy	IDA	23685073, 28017329
GO:0000423	Process	Mitophagy	IEA
GO:0000423	Process	Mitophagy	IEA
GO:0001664	Function	G protein-coupled receptor binding	IPI	12150907
GO:0001963	Process	Synaptic transmission, dopaminergic	IEA
GO:0001964	Process	Startle response	IEA
GO:0003714	Function	Transcription corepressor activity	IDA	23985028
GO:0003779	Function	Actin binding	IPI	21753002
GO:0004842	Function	Ubiquitin-protein transferase activity	EXP	31358971
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	11078524, 15728840, 17097639, 18541373, 20889974, 21376232, 24784582, 24896179
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0004842	Function	Ubiquitin-protein transferase activity	TAS
GO:0005515	Function	Protein binding	IPI	10888878, 11078524, 11439185, 11590439, 12364339, 12628165, 12925569, 14532270, 15603737, 15728840, 16096643, 16189514, 16332688, 16352719, 17097639, 19036992, 19060904, 19146857, 19229105, 19725078, 19966284, 20153330, 20889486, 20889974, 21376232, 21753002, 22078885, 22082830, 229
GO:0005634	Component	Nucleus	IDA	23985028
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	17512523, 19591802, 21376232, 23858059, 23985028, 25244949
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IDA	18957282, 19229105, 20889974, 23933751, 25244949
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IMP	21508222
GO:0005739	Component	Mitochondrion	IMP	19029340
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	12150907
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IDA	17097639
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	19029340, 19229105, 19880420, 20889974, 21753002, 23933751, 24751536
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	IMP	21508222
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	12925569, 17097639
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	NAS	12628165
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	TAS	10888878
GO:0006513	Process	Protein monoubiquitination	IDA	20889974
GO:0006513	Process	Protein monoubiquitination	IMP	24660806, 32047033
GO:0006914	Process	Autophagy	IEA
GO:0006979	Process	Response to oxidative stress	ISS
GO:0006986	Process	Response to unfolded protein	IEA
GO:0007005	Process	Mitochondrion organization	ISS
GO:0007417	Process	Central nervous system development	TAS	9560156
GO:0007612	Process	Learning	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008013	Function	Beta-catenin binding	IDA	19591802
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008270	Function	Zinc ion binding	TAS	23626584
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0008344	Process	Adult locomotory behavior	ISS
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009896	Process	Positive regulation of catabolic process	IEA
GO:0010498	Process	Proteasomal protein catabolic process	IMP	19725078
GO:0010506	Process	Regulation of autophagy	IDA	20889974
GO:0010628	Process	Positive regulation of gene expression	IMP	19725078
GO:0010629	Process	Negative regulation of gene expression	IMP	19725078, 22314364
GO:0010636	Process	Positive regulation of mitochondrial fusion	IMP	23453807
GO:0010637	Process	Negative regulation of mitochondrial fusion	ISS
GO:0010821	Process	Regulation of mitochondrion organization	IBA
GO:0010821	Process	Regulation of mitochondrion organization	IDA	21113145
GO:0010821	Process	Regulation of mitochondrion organization	IGI	19279012
GO:0010821	Process	Regulation of mitochondrion organization	NAS	20890124
GO:0010906	Process	Regulation of glucose metabolic process	TAS	23626584
GO:0010918	Process	Positive regulation of mitochondrial membrane potential	IEA
GO:0010994	Process	Free ubiquitin chain polymerization	IMP	24660806
GO:0014059	Process	Regulation of dopamine secretion	TAS	21563316
GO:0014069	Component	Postsynaptic density	IEA
GO:0014850	Process	Response to muscle activity	IEA
GO:0015631	Function	Tubulin binding	IPI	21753002
GO:0016020	Component	Membrane	IEA
GO:0016235	Component	Aggresome	IDA	14645198
GO:0016236	Process	Macroautophagy	TAS
GO:0016567	Process	Protein ubiquitination	IDA	10973942, 11439185, 12628165, 17314283
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016567	Process	Protein ubiquitination	IMP	23933751, 26911690, 29311685
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016607	Component	Nuclear speck	IDA
GO:0016740	Function	Transferase activity	IEA
GO:0017124	Function	SH3 domain binding	TAS	23626584
GO:0019005	Component	SCF ubiquitin ligase complex	IDA	12628165
GO:0019899	Function	Enzyme binding	IPI	19725078
GO:0019900	Function	Kinase binding	IPI	17512523, 19229105, 19880420, 24187134
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	20798600
GO:0022603	Process	Regulation of anatomical structure morphogenesis	IEA
GO:0030163	Process	Protein catabolic process	IEA
GO:0030165	Function	PDZ domain binding	IPI	17512523
GO:0030424	Component	Axon	IEA
GO:0030544	Function	Hsp70 protein binding	IPI	12150907, 21753002
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031072	Function	Heat shock protein binding	IPI	12150907
GO:0031396	Process	Regulation of protein ubiquitination	IGI	23212910
GO:0031396	Process	Regulation of protein ubiquitination	IMP	20871098
GO:0031624	Function	Ubiquitin conjugating enzyme binding	IBA
GO:0031624	Function	Ubiquitin conjugating enzyme binding	IDA	10973942
GO:0031624	Function	Ubiquitin conjugating enzyme binding	IPI	11439185, 12628165
GO:0031625	Function	Ubiquitin protein ligase binding	IMP	24751536
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	12150907, 21532592, 23453807
GO:0031647	Process	Regulation of protein stability	IMP	26911690
GO:0031648	Process	Protein destabilization	IDA	19591802, 29311685
GO:0031648	Process	Protein destabilization	IEA
GO:0032232	Process	Negative regulation of actin filament bundle assembly	IDA	17512523
GO:0032368	Process	Regulation of lipid transport	TAS	23626584
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IEA
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	TAS	24115276
GO:0032991	Component	Protein-containing complex	IEA
GO:0033132	Process	Negative regulation of glucokinase activity	IDA	24187134
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0034599	Process	Cellular response to oxidative stress	TAS	24252804
GO:0034620	Process	Cellular response to unfolded protein	TAS	18221368
GO:0034976	Process	Response to endoplasmic reticulum stress	IEA
GO:0034976	Process	Response to endoplasmic reticulum stress	IMP	21113145
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0035519	Process	Protein K29-linked ubiquitination	TAS	23626584
GO:0035774	Process	Positive regulation of insulin secretion involved in cellular response to glucose stimulus	IEA
GO:0036503	Process	ERAD pathway	NAS	10973942
GO:0042053	Process	Regulation of dopamine metabolic process	IMP	22314364
GO:0042415	Process	Norepinephrine metabolic process	IEA
GO:0042417	Process	Dopamine metabolic process	IEA
GO:0042417	Process	Dopamine metabolic process	TAS	23626584
GO:0042802	Function	Identical protein binding	IPI	21694720
GO:0042826	Function	Histone deacetylase binding	IPI	21753002
GO:0042981	Process	Regulation of apoptotic process	IBA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IDA	12925569
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	17314283, 19880420
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IMP	23453807
GO:0043130	Function	Ubiquitin binding	IDA	24784582
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	11439185, 21376232
GO:0043195	Component	Terminal bouton	IEA
GO:0043274	Function	Phospholipase binding	IPI	19725078
GO:0043524	Process	Negative regulation of neuron apoptotic process	IDA	12628165, 22511790, 23985028
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043653	Process	Mitochondrial fragmentation involved in apoptotic process	IEA
GO:0044314	Process	Protein K27-linked ubiquitination	TAS	20098416, 23626584
GO:0044828	Process	Host-mediated suppression of viral genome replication	IDA	25244949
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0044877	Function	Protein-containing complex binding	IPI	23453807
GO:0045202	Component	Synapse	IEA
GO:0045732	Process	Positive regulation of protein catabolic process	TAS	22988876
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23453807
GO:0046329	Process	Negative regulation of JNK cascade	ISS
GO:0046676	Process	Negative regulation of insulin secretion	IDA	24187134
GO:0046872	Function	Metal ion binding	IEA
GO:0046928	Process	Regulation of neurotransmitter secretion	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17097639
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IBA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0050821	Process	Protein stabilization	IMP	19229105
GO:0051087	Function	Protein-folding chaperone binding	IPI	15603737, 19725078, 21753002
GO:0051412	Process	Response to corticosterone	IEA
GO:0051582	Process	Positive regulation of neurotransmitter uptake	IMP	22314364
GO:0051583	Process	Dopamine uptake involved in synaptic transmission	IEA
GO:0051646	Process	Mitochondrion localization	IEA
GO:0051865	Process	Protein autoubiquitination	IDA	12628165, 15728840, 16352719, 17512523
GO:0051881	Process	Regulation of mitochondrial membrane potential	IEA
GO:0051967	Process	Negative regulation of synaptic transmission, glutamatergic	IEA
GO:0060544	Process	Regulation of necroptotic process	TAS
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	TAS	24115276
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	10973942, 11439185, 12150907, 12628165, 12925569, 16227987, 19229105, 19880420, 20823226, 21376232, 23685073, 23858059, 25621951
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	32047033
GO:0061630	Function	Ubiquitin protein ligase activity	NAS	10973942, 18221368
GO:0061630	Function	Ubiquitin protein ligase activity	TAS
GO:0061734	Process	Type 2 mitophagy	IDA	19029340
GO:0065008	Process	Regulation of biological quality	IEA
GO:0070050	Process	Neuron cellular homeostasis	ISS
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	15728840, 17314283, 19880420, 25621951
GO:0070534	Process	Protein K63-linked ubiquitination	NAS	20890124
GO:0070534	Process	Protein K63-linked ubiquitination	TAS	18221368
GO:0070585	Process	Protein localization to mitochondrion	IEA
GO:0070842	Process	Aggresome assembly	IMP	14645198
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	21376232, 23858059
GO:0070979	Process	Protein K11-linked ubiquitination	IDA	25621951
GO:0071287	Process	Cellular response to manganese ion	IEA
GO:0071287	Process	Cellular response to manganese ion	TAS	23628791
GO:0080090	Process	Regulation of primary metabolic process	IEA
GO:0085020	Process	Protein K6-linked ubiquitination	IDA	25621951
GO:0085020	Process	Protein K6-linked ubiquitination	TAS	23626584
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	19591802
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	TAS	22988876
GO:0090141	Process	Positive regulation of mitochondrial fission	ISS
GO:0090201	Process	Negative regulation of release of cytochrome c from mitochondria	IDA	19880420, 23453807
GO:0090258	Process	Negative regulation of mitochondrial fission	IEA
GO:0090394	Process	Negative regulation of excitatory postsynaptic potential	IEA
GO:0097237	Process	Cellular response to toxic substance	IEA
GO:0097237	Process	Cellular response to toxic substance	IMP	12628165
GO:0097413	Component	Lewy body	TAS	24522549
GO:0097602	Function	Cullin family protein binding	IDA	12628165
GO:0097708	Component	Intracellular vesicle	IEA
GO:0098691	Component	Dopaminergic synapse	IEA
GO:0098793	Component	Presynapse	IEA
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099072	Process	Regulation of postsynaptic membrane neurotransmitter receptor levels	IEA
GO:0099073	Component	Mitochondrion-derived vesicle	IDA	24446486
GO:0099074	Process	Mitochondrion to lysosome vesicle-mediated transport	IDA	24446486
GO:0140251	Process	Regulation protein catabolic process at presynapse	IEA
GO:1900242	Process	Regulation of synaptic vesicle endocytosis	IEA
GO:1900407	Process	Regulation of cellular response to oxidative stress	IBA
GO:1900407	Process	Regulation of cellular response to oxidative stress	IDA	24446486
GO:1900407	Process	Regulation of cellular response to oxidative stress	IMP	22314364
GO:1900407	Process	Regulation of cellular response to oxidative stress	ISS
GO:1901526	Process	Positive regulation of mitophagy	IDA	26310625
GO:1901526	Process	Positive regulation of mitophagy	IEA
GO:1901800	Process	Positive regulation of proteasomal protein catabolic process	IGI	23858059
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IDA	11439185, 12150907, 23453807
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	IMP	10973942, 21113145
GO:1902254	Process	Negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IMP	23985028
GO:1902530	Process	Positive regulation of protein linear polyubiquitination	IEA
GO:1902530	Process	Positive regulation of protein linear polyubiquitination	IGI	23453807
GO:1902803	Process	Regulation of synaptic vesicle transport	NAS	21563316
GO:1903214	Process	Regulation of protein targeting to mitochondrion	NAS	20890124
GO:1903265	Process	Positive regulation of tumor necrosis factor-mediated signaling pathway	IDA	23453807
GO:1903351	Process	Cellular response to dopamine	TAS	23626584
GO:1903377	Process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA	17314283
GO:1903377	Process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IEA
GO:1903382	Process	Negative regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway	IEA
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	IEA
GO:1903530	Process	Regulation of secretion by cell	IEA
GO:1903542	Process	Negative regulation of exosomal secretion	IMP	26911690
GO:1903861	Process	Positive regulation of dendrite extension	IEA
GO:1904049	Process	Negative regulation of spontaneous neurotransmitter secretion	IMP	22314364
GO:1904643	Process	Response to curcumin	IEA
GO:1904845	Process	Cellular response to L-glutamine	IEA
GO:1904881	Process	Cellular response to hydrogen sulfide	IEA
GO:1905091	Process	Positive regulation of type 2 mitophagy	IDA	20457763
GO:1905091	Process	Positive regulation of type 2 mitophagy	IMP	20871098, 23212910
GO:1905232	Process	Cellular response to L-glutamate	IEA
GO:1905281	Process	Positive regulation of retrograde transport, endosome to Golgi	NAS	26911690
GO:1905366	Process	Negative regulation of intralumenal vesicle formation	IMP	26911690
GO:1905477	Process	Positive regulation of protein localization to membrane	IC	26911690
GO:1905477	Process	Positive regulation of protein localization to membrane	IMP	26911690
GO:1990000	Process	Amyloid fibril formation	TAS
GO:1990381	Function	Ubiquitin-specific protease binding	IPI	24063750
GO:1990444	Function	F-box domain binding	IPI	12628165
GO:1990452	Component	Parkin-FBXW7-Cul1 ubiquitin ligase complex	IPI	12628165
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	IMP	18541373
GO:2000378	Process	Negative regulation of reactive oxygen species metabolic process	IGI	18541373
GO:2001171	Process	Positive regulation of ATP biosynthetic process	IEA

Other IDs

• MIM: 602544
• HGNC: 8607
• e!Ensembl: ENSG00000185345

Protein

• UniProt ID: O60260
• Protein name: E3 ubiquitin-protein ligase parkin (Parkin) (EC 2.3.2.31) (Parkin RBR E3 ubiquitin-protein ligase) (Parkinson juvenile disease protein 2) (Parkinson disease protein 2)
• Protein function: Functions within a multiprotein E3 ubiquitin ligase complex, catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins (PubMed:10888878, PubMed:10973942, PubMed:11431533, PubMed:12150907, PubMed:12628165, PubMed:15105460,
• PDB: 1IYF, 2JMO, 4BM9, 4I1F, 4I1H, 5C1Z, 5C23, 5C9V, 5N2W, 5N38, 5TR5, 6GLC, 6HUE, 6N13, 8IK6, 8IKV, 8JWV, 8WZN, 8WZO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00240	ubiquitin	3 → 73	Ubiquitin family	Domain
  PF17976	zf-RING_12	145 → 217	RING/Ubox like zinc-binding domain	Domain
  PF17978	zf-RING_14	228 → 318	RING/Ubox like zinc-binding domain	Domain
  PF01485	IBR	399 → 458	IBR domain, a half RING-finger domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in the brain including the substantia nigra (PubMed:19501131, PubMed:9560156). Expressed in heart, testis and skeletal muscle (PubMed:9560156). Expression is down-regulated or absent in tumor biopsies, and absent in th
• Sequence:

  MIVFVRFNSSHGFPVEVDSDTSIFQLKEVVAKRQGVPADQLRVIFAGKELRNDWTVQNCD
  LDQQSIVHIVQRPWRKGQEMNATGGDDPRNAAGGCEREPQSLTRVDLSSSVLPGDSVGLA
  VILHTDSRKDSPPAGSPAGRSIYNSFYVYCKGPCQRVQPGKLRVQCSTCRQATLTLTQGP
  SCWDDVLIPNRMSGECQSPHCPGTSAEFFFKCGAHPTSDKETSVALHLIATNSRNITCIT
  CTDVRSPVLVFQCNSRHVICLDCFHLYCVTRLNDRQFVHDPQLGYSLPCVAGCPNSLIKE
  LHHFRILGEEQYNRYQQYGAEECVLQMGGVLCPRPGCGAGLLPEPDQRKVTCEGGNGLGC
  GFAFCRECKEAYHEGECSAVFEASGTTTQAYRVDERAAEQARWEAASKETIKKTTKPCPR
  CHVPVEKNGGCMHMKCPQPQCRLEWCWNCGCEWNRVCMGDHWFDV

• Sequence length: 465

Pathways

KEGG:

Ubiquitin mediated proteolysis
Mitophagy - animal
Protein processing in endoplasmic reticulum
Parkinson disease
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases

Reactome:

Pink/Parkin Mediated Mitophagy
Josephin domain DUBs
Aggrephagy
Amyloid fiber formation
Antigen processing: Ubiquitination & Proteasome degradation

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
Autism spectrum disorder	Pathogenic	rs751037529	RCV003313956	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant Parkinson disease 1	Likely pathogenic; Pathogenic	rs771586218	RCV005629857	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal recessive juvenile Parkinson disease 2	Pathogenic; Likely pathogenic	rs2128330405, rs1440010564, rs1562519380, rs2115426221, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs191486604, rs1779896481, rs751037529, rs55777503, rs754809877, rs147757966, rs397514694, rs747427602, rs771586218, rs748142049, rs1582953433, rs1583215504, rs746646126, rs771529549, rs778305273	RCV001789789 RCV002489862 RCV002295357 RCV002250877 RCV000007452 RCV000007453 RCV000007458 RCV000007459 RCV000007462 RCV000007463 RCV000007466 RCV000007467 RCV000007469 RCV000269607 RCV004720210 RCV003326436 RCV001782974 RCV000644912 RCV005004377 RCV000043509 RCV000995593 RCV001784521 RCV001030787 RCV000999646 RCV005047195 RCV001809895 RCV001809967 RCV001780174	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Leprosy, susceptibility to, 2	Likely pathogenic; Pathogenic	rs34424986	RCV000763143	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung adenocarcinoma	Likely pathogenic; Pathogenic	rs1231455463	RCV004798975	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic; Pathogenic	rs1440010564, rs34424986, rs137853060, rs191486604, rs754809877, rs147757966, rs747427602, rs748142049, rs1583215504, rs746646126, rs771529549, rs778305273	RCV002489862 RCV005031404 RCV005031405 RCV005004138 RCV005004295 RCV005004377 RCV005047075 RCV005036270 RCV005047195 RCV005047200 RCV005005001 RCV005040076	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Lung carcinoma	Likely pathogenic; Pathogenic	rs34424986	RCV000763143	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian cancer	Likely pathogenic; Pathogenic	rs34424986, rs137853060, rs191486604, rs754809877, rs147757966, rs747427602, rs748142049, rs1583215504, rs746646126, rs771529549, rs778305273	RCV004766985 RCV004766986 RCV004767242 RCV005004295 RCV005004377 RCV004768659 RCV005036270 RCV005047195 RCV005047200 RCV005005001 RCV005040076	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian neoplasm	Likely pathogenic; Pathogenic	rs1440010564, rs34424986	RCV002489862 RCV000763143	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson disease 12	Likely pathogenic; Pathogenic	rs34424986	RCV005055346	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PRKN-related disorder	Likely pathogenic; Pathogenic	rs34424986, rs191486604, rs147757966	RCV003390652 RCV003950266 RCV003907954	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Young-onset Parkinson disease	Likely pathogenic; Pathogenic	rs34424986, rs191486604, rs55777503, rs772786691	RCV000612317 RCV004017596 RCV001449626 RCV001449634	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLICATED HEREDITARY SPASTIC PARAPLEGIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DUPUYTREN CONTRACTURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXOSTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile-onset Parkinson disease	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CYSTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, ClinGen, Disgenet, GWAS catalog, HPO CTD, ClinGen, Disgenet, GWAS catalog, HPO CTD, ClinGen, Disgenet, GWAS catalog, HPO CTD, ClinGen, Disgenet, GWAS catalog, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE, LATE-ONSET	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE, SECONDARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SECONDARY PARKINSON DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SIALOLITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICOURETERAL REFLUX	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VESICULOBULLOUS SKIN DISEASE	—	GWAS catalog	★★☆☆☆ 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
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	16287063, 21663383		★☆☆☆☆ Found in Text Mining only
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	17924349		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	25274033		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	22302706, 29945960		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	28414305		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	20696900, 30884828		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	20696900, 22751121		★☆☆☆☆ Found in Text Mining only
Adult Learning Disorders	Learning Disorders	CTD_human_DG	12915482		★☆☆☆☆ Found in Text Mining only
Age-Related Memory Disorders	Age-Related Memory Disorders	CTD_human_DG	12915482		★☆☆☆☆ Found in Text Mining only
Akinesia	Akinesia	BEFREE	28716221		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	20876472, 26721933, 27776828, 29935546, 31755389, 36379251	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	25294927, 26365381, 35893043, 36379251	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	25790475, 30237395		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	15263005, 23447592, 23626758, 24292889, 27232889, 30082419, 30674673, 31087000, 31160454, 31625566		★☆☆☆☆ Found in Text Mining only
Anosmia	Anosmia	Pubtator	32677319	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	35510553	Associate	★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	12975321		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	40610493	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	26705847		★☆☆☆☆ Found in Text Mining only
Atherosclerotic Parkinsonism	Atherosclerotic Parkinsonism	CTD_human_DG	15993444		★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	23164820, 36980871	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	23164820		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	27042285, 32081867, 36980871, 38287090	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	21360662, 27042285, 27824727, 30787400, 31160454		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	CTD_human_DG	19404257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	Pubtator	19404257, 38287090	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	23626758, 24292889, 26368817, 27232889, 28559284, 30082419, 31455858		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases	Autoimmune Diseases	BEFREE	18565657, 20170897, 29109121, 30275535, 30288100, 31311822		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Juvenile Parkinson Disease	Parkinson Disease	CTD_human_DG	10072423, 10894217, 11254447, 12764051, 16914382, 23046578, 25640678, 26558463		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	CTD_human_DG	10072423, 10894217, 11254447, 12764051, 16914382, 23046578, 25640678, 26558463		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	BEFREE	10072423, 11128611, 11193165, 11697518, 11911988, 12397156, 12548339, 12781588, 12815654, 14678753, 15197707, 17676595, 18022644, 18987353, 19684592, 22445249, 26626785		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	CTD_human_DG	10072423, 10894217, 11254447, 12764051, 16914382, 23046578, 25640678, 26558463		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	20208059, 22754359		★☆☆☆☆ Found in Text Mining only
Bardet-Biedl Syndrome	Bardet-Biedl Syndrome	BEFREE	16606853		★☆☆☆☆ Found in Text Mining only
BARDET-BIEDL SYNDROME 11	Bardet-Biedl Syndrome	BEFREE	16606853		★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	BEFREE	29728705		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	30575805	Inhibit	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	27922670, 31819015		★☆☆☆☆ Found in Text Mining only
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	16287063, 21663383		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	28577568		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	36047447	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	23666460, 35760846	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16288031, 16819513, 17804730, 21272160, 23559371, 23765085, 24027428, 24870930, 26148235, 26621835, 28334634, 28423498, 28423597, 28964893, 30383767, 30689267, 31392083, 31429726		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	31429726, 32649310, 33888730, 33929971	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32929329	Inhibit	★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	Pubtator	27590295	Associate	★☆☆☆☆ Found in Text Mining only
Buruli Ulcer	Buruli Ulcer	BEFREE	27128681		★☆☆☆☆ Found in Text Mining only
Buruli Ulcer	Buruli ulcer	Pubtator	27128681	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31577952	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18630515, 23225159, 26276352, 28714370		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	27740515, 36430876	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	27922670, 31819015		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	21795997, 23237220, 25640678, 25656612, 27329585, 27888625, 28232384, 28843361, 29271375, 29581762, 30528265, 31285534		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	27286703	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18592004, 33139776, 35059737	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33019842, 36385010, 37382962	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26908436	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	26437300		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	21221875, 25114896, 27286703, 29794480, 30718461		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	27693578		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	32417558	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Gordon Holmes syndrome	BEFREE	30733708		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	28103118		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	20652448, 28631565		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	20652448, 28631565		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	15776429, 23519028, 28335037		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	28184929		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30607007		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	26621835, 26717976, 30510140		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	27329585, 30290714		★☆☆☆☆ Found in Text Mining only
Chuvash erythrocytosis	Chuvash Erythrocytosis	BEFREE	16687917, 21685897		★☆☆☆☆ Found in Text Mining only
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	18481984		★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	28581440		★☆☆☆☆ Found in Text Mining only
Cochlear Diseases	Cochlear diseases	Pubtator	35708118	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	27788143	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24398687		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	19946270		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	23225159	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Polyps	Colonic polyps	Pubtator	34126796	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15292388, 20696900, 21108931, 21998011, 23225159, 24867101, 27184401, 27399335, 27417709, 29515254, 29932918, 30296568, 30806153, 31140864, 31175139		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	23225159, 32343233, 35181726, 36871142, 39332629	Associate	★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation	Congenital Central Hypoventilation	BEFREE	22307522		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	15735686, 18095884, 18481984, 21652636, 23125027, 24656772, 29079709, 30026228		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	30610379		★☆☆☆☆ Found in Text Mining only
Corpus Luteum Cyst	Corpus Luteum Cyst	CTD_human_DG	21239663		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Sporadic	Creutzfeldt-Jakob disease	BEFREE	21335971		★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	38552739	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	27480933, 31684073		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	18389263, 24190026, 31512170, 33045815	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia	Dementia	BEFREE	20669327, 29887346, 30324423		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dementia of frontal lobe type	Dementia Of Frontal Lobe	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	21856206	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	27805921		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36980871, 38287090	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	18583931, 28926063, 31570815		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	18583931, 20876472, 28926063, 31570815		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	20876472	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	31123324, 36360309	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	35605453	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	31570815		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	30877201, 31123324, 31753025		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	31332166	Associate	★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgerminoma	Dysgerminoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	10824074, 12397156, 31386307, 31731261, 35041927, 39957199	Associate	★☆☆☆☆ Found in Text Mining only
DYSTONIA 12	Dystonia	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Dystonia 3, Torsion, X-Linked	Dystonia	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	11684352, 12397156, 12815654, 15635662, 19735094, 20694531, 31800013		★☆☆☆☆ Found in Text Mining only
Dystonia, Secondary	Dystonia	BEFREE	19491146		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	19050041	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	22399432		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	25058385, 29461588, 31776466		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34616150	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic esophagitis	Eosinophilia	BEFREE	27742702		★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	18389263	Associate	★☆☆☆☆ Found in Text Mining only
Episodic ataxia type 2 (disorder)	Episodic Ataxia	BEFREE	28167673		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	27286703		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	29213217		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	26857264	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37833780	Inhibit	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	12397156	Associate	★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	BEFREE	15261877, 17149727		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	LHGDN	15261877		★☆☆☆☆ Found in Text Mining only
Familial Juvenile Parkinsonism	Parkinsonian disease	CTD_human_DG	10072423, 10894217, 11254447, 12764051, 16914382, 23046578, 25640678, 26558463		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	16474167, 16784902, 18047734, 21109493, 22653977, 23783032, 24451376, 26119737, 26883629, 30622320, 31666700		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	16474167, 16784902, 18047734, 21109493, 22653977, 23783032, 24451376, 26119737, 26883629, 30622320		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP D2	Fanconi Anemia	BEFREE	21775430		★☆☆☆☆ Found in Text Mining only
Female sexual dysfunction	Female sexual dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29100790		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	27974047	Associate	★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	21098288		★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	18211709	Associate	★☆☆☆☆ Found in Text Mining only
Giant Cell Arteritis	Giant Cell Arteritis	BEFREE	25395181		★☆☆☆☆ Found in Text Mining only
Giant Cell Glioblastoma	Giant Cell Glioblastoma	CTD_human_DG	19946270		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	31588173	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	31588173	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	16582634, 23225159, 26975375, 27148961, 31751860	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	BEFREE	19946270, 23225159, 26856755, 28337377, 28928831, 30528352, 31278746		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma	Glioblastoma	CTD_human_DG	19946270		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioblastoma Multiforme	Glioblastoma	BEFREE	19435819, 19946270, 26856755, 28337377, 28481871, 28928831, 30528352, 31278746		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	CTD_human_DG	19946270		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25877876		★☆☆☆☆ Found in Text Mining only
GLOMUVENOUS MALFORMATIONS	Glomuvenous Malformation	BEFREE	22405651		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	24596130, 28279658		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	19038850	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	19050041, 30911576	Associate	★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	16287063		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	LHGDN	16287063		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	27740515	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	23555273	Stimulate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	19464273		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	31717806	Stimulate	★☆☆☆☆ Found in Text Mining only
Hurthle Cell Tumor	Tumor	BEFREE	26354775		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	31308240	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	26343497		★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	26343497		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	30733708		★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33496385	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	36481701, 36803235	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31837334		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	31775876	Inhibit	★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	19832807, 30559180		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	26818663, 30232010		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	18252223, 24303071, 29728705, 29742418		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	GWASDB_DG	22993228		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	GWASCAT_DG	22993228		★☆☆☆☆ Found in Text Mining only
Juvenile Myelomonocytic Leukemia	Myelomonocytic Leukemia	BEFREE	20008299		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	29167336, 31801865		★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	18583931		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	18560894	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29172924, 31567378		★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	15930137, 19036738, 21798009, 23131811, 25680286, 30336494, 31758957		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	CTD_human_DG	12915482		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disorders	Learning Disorders	CTD_human_DG	12915482		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disturbance	Learning Disorders	CTD_human_DG	12915482		★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	23314057		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	14737177, 15653309, 16391553, 16734611, 21816242, 23052943, 23861666, 24578538, 27876828, 31753025		★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	16734611, 20876472, 23350010, 23861666, 24578538, 27740515, 31308240	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	16287063		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	23733339	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26517351		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	39519080	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20622007, 29209041, 29296815, 29459712, 31684170		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelomonocytic, Chronic	Myelomonocytic Leukemia	BEFREE	19074904		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	14532270, 15728840, 18389263, 26465922	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	LHGDN	15105460		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	20085810		★☆☆☆☆ Found in Text Mining only
Lhermitte-Duclos disease	Lhermitte-Duclos disease	BEFREE	22993228		★☆☆☆☆ Found in Text Mining only
Liddle Syndrome	Liddle Syndrome	BEFREE	18691017		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	15101042, 16287063, 21356256, 28754688, 28862485, 31558697, 31802035, 31819032		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	24636985, 29916549, 30365055		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	27740515	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	23555273	Associate	★☆☆☆☆ Found in Text Mining only
Lumbar disc disease	Lumbar Disc Disease	BEFREE	22993228		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	29450633		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	15102676		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	19946270, 25640678		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	23237220, 25640678, 25656612, 28843361, 31285534	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	26673963		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	28351314, 37833780	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	17509076, 24583314, 24697523, 26142735, 28798332, 29876933		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	25140833		★☆☆☆☆ Found in Text Mining only
Male sexual dysfunction	Male sexual dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	27888625		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	24596130, 28279658		★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	23407552		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16288031, 16819513, 17804730, 21272160, 23559371, 23765085, 24027428, 24870930, 26148235, 26621835, 28334634, 28423498, 28423597, 28964893, 30383767, 30642351, 30689267, 31392083, 31429726		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	30380024		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	14757845		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	19430492, 26662306, 26847831		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	19946270, 25640678		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	21795997, 23237220, 25640678, 25656612, 27329585, 27888625, 28232384, 28843361, 29271375, 29581762, 30528265, 31285534		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	21221875, 25114896, 29794480, 30563893, 30718461		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23288781, 24722501, 25016295, 25348515, 26621835, 28423617, 30100261		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	17016436, 20587519, 20832018, 21514447, 24508459, 25204806, 25759396, 25883222, 27070713, 28805822, 29202479, 29262542, 29463595, 30479348, 30952903, 30955223, 31472148, 31559706		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25769451, 28400336, 28521418		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	24138990		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	BEFREE	27227488, 27709798		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	27922670, 31819015		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12507560, 12719539, 15101042, 17699801, 19214989, 19901108, 19946270, 20103673, 20126411, 20197382, 20418918, 20598272, 20619386, 20652448, 20696900, 21212733, 21383157, 22158988, 22745583, 22927236, 23071779, 23142381, 23470638, 24297497, 25640678, 25860929, 25877876, 26205489, 26238155, 26348575, 26482610, 26527005, 26854224, 26883629, 27070713, 27352324, 27448298, 27534417, 27733215, 27820701, 28038320, 28405688, 28631565, 28652210, 29278851, 29349575, 29408378, 29661351, 29742019, 30181285, 30275535, 30724592, 30745851, 30952903, 30972179, 31130821, 31175139, 31285534, 31406303, 31432163, 31637449, 31753025		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	20652448, 28631565		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	19946270		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24398687		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16288031, 18819927, 24027428, 28964893, 29180628, 30689267		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	16819513		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	23407552		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	26683220, 26717892, 27791197		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32938713	Inhibit	★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory Disorders	CTD_human_DG	12915482		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Memory Disorders	Memory disorders	Pubtator	27788143	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meningioma	Meningioma	BEFREE	23348505		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	18252223		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	22763239		★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	Myoclonic epilepsy with ragged red fibers	Pubtator	32061767	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	24170694, 30323259		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30143610		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	29715200		★☆☆☆☆ Found in Text Mining only
Mitochondrial complex I deficiency	Mitochondrial complex deficiency	Pubtator	23555273	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	17989306, 19067348, 19815446, 20547844, 20871098, 20885945, 21113145, 21139416, 21292769, 21615408, 21921694, 22841634, 24446486, 24721425, 24928900, 24991765, 25284222, 25315681, 25404737, 25666615, 25801386, 26116755, 26399642, 26471730, 26940879, 27302064, 27846363, 28038320, 29207128, 29223129, 29448246, 29494565, 29921586, 30375512, 30629163, 31285534, 31806365, 32061767, 33019842, 33029617, 33496385, 33929971, 34095303, 35725011, 35905946, 36379251, 38552739, 39214298	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	30765602		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	31432739, 38229174	Stimulate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	35421271	Associate	★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	39755597	Associate	★☆☆☆☆ Found in Text Mining only
Mulibrey Nanism	Mulibrey Nanism	BEFREE	15885686		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	27142104, 30975979, 31157769		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	36975444	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	34421896	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	11459900, 26465922	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	30884854		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	24500717		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	20598272	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	16287063, 21663383		★☆☆☆☆ Found in Text Mining only
Myeloproliferative Syndrome Transient	Transient myeloproliferative disorder	Pubtator	23733339	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30070337		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35760846	Stimulate	★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	21798009		★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	BEFREE	24694762		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28351314, 30573520		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	28351314, 39286844	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	38149563	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12719539, 14614460, 14657501, 15611064, 16287063, 16407835, 16925945, 17694067, 18307535, 18481984, 18630515, 19509229, 19625121, 19946270, 20103673, 20197382, 20332316, 20619386, 20628057, 20696900, 21282377, 21356256, 21383157, 21652636, 22570270, 22927236, 23225159, 23381582, 23470638, 23559371, 23847377, 24297497, 24747642, 24804778, 24884509, 25640678, 25769451, 25952305, 25955618, 26348575, 26458406, 26461473, 26621835, 26683220, 26857264, 27148961, 27329585, 27374082, 27399335, 27841863, 28317937, 28414305, 28619760, 28631565, 28810879, 28895413, 29349575, 29355657, 29497989, 29515107, 29515254, 29920188, 29921293, 29921586, 30108998, 30252570, 30275535, 30296568, 30563893, 30955223, 31003445, 31281471, 31285534, 31358971, 31429726, 31508359, 31545234, 31819015		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	19038850, 32864185, 36980871	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29491882		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	23318455		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	15557340, 17472700, 19229105, 25689131	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	25865804		★☆☆☆☆ Found in Text Mining only
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5	Neurodegeneration With Brain Iron Accumulation	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	17472700, 19483198, 19966284, 21694720, 22121227, 24063657, 28281653, 28306509, 29138676, 29223129, 31285534, 32581291, 35053314, 36379251, 37735116	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	12397156, 20418918, 21694720, 24063657, 27975203, 28620835, 28914586, 30336494, 31285534		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	15455441, 18561034		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	27824727, 29118367, 30082419, 31087000, 31160454, 31625566		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20126411, 20889565, 26482610, 26732495, 26942878, 28074012, 28232384, 28835699, 29355657, 29541383, 29786107, 30515972, 31508359, 31571161		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Noonan Syndrome	Noonan Syndrome	BEFREE	20619386, 25952305		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	BEFREE	28167673		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25526310, 30365055, 30610379		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	21542805		★☆☆☆☆ Found in Text Mining only
Opitz-G syndrome, type 2	Opitz GBBB syndrome	BEFREE	29450633		★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	20547844, 39214298	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	28801211, 32417558	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24686088, 29515107		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	21221875		★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	CTD_human_DG	21239663		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	LHGDN	12719539, 14614460		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ovarian neoplasm	Ovarian neoplasm	BEFREE	12874785, 25114896, 29794480, 30718461		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ovarian neoplasm	Ovarian neoplasm	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	12719539, 21221875, 27286703	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian papillary adenocarcinoma	Ovarian papillary adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15735017, 23288781, 24722501, 25348515, 26621835, 28423617, 30100261		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panic Attacks	Panic Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	24138990		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	17131388		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10072423, 10319893, 10824074, 10894217, 10965160, 10983716, 11215568, 11487197, 11487208, 11558785, 11580890, 11710888, 11920285, 12000718, 12044248, 12056932, 12058349, 12165399, 12220378, 12231460, 12374768, 12397156, 12446971, 12584415, 12629236, 12665672, 12722931, 12730996, 12761037, 12873854, 12925570, 12975291, 14639672, 14737177, 15073152, 15078880, 15105460, 15197707, 15249681, 15365989, 15503153, 15684050, 15761265, 15816865, 16019250, 16049031, 16511856, 16643317, 16672981, 16752048, 16769863, 16793319, 16840513, 16914382, 17017530, 17280783, 17324265, 17400506, 17415800, 17499497, 17678490, 17766365, 17994548, 18020977, 18387843, 18413468, 18514563, 18704525, 18759365, 18927607, 19162522, 19214989, 19229105, 19306499, 19330201, 19358826, 19473361, 19610108, 19617636, 19628420, 19679562, 19734163, 19800834, 19845000, 19845746, 19877238, 19909784, 19946270, 19966284, 20064468, 20085810, 20098416, 20187256, 20221696, 20508036, 20571283, 20643691, 20810900, 20823226, 20876472, 21092386, 21147754, 21176923, 21209200, 21215313, 21296869, 21322020, 21355049, 21412835, 21640711, 21663383, 21694720, 21829596, 21865652, 21915905, 21996382, 22023810, 22233331, 22271254, 22361577, 22488424, 22562816, 23099318, 23146297, 23164820, 23275044, 23313576, 23393160, 23453807, 23531835, 23616242, 23823983, 23858059, 23930597, 23985028, 24046356, 24063657, 24149440, 24190026, 24192137, 24231739, 24270810, 24375549, 24423640, 24473149, 24582596, 24671417, 24677602, 24721425, 24852371, 24896179, 24928900, 25284222, 25332110, 25345844, 25399302, 25583483, 25640678, 25728007, 25790475, 25833766, 25843045, 25865804, 25907632, 25939424, 25995186, 26016408, 26099628, 26188007, 26240990, 26377470, 26387737, 26509433, 26517048, 26626018, 26631732, 26683220, 26797011, 27148961, 27185595, 27206984, 27251035, 27430567, 27456084, 27641647, 27689878, 27693468, 27703082, 27798970, 27824727, 27911343, 28038320, 28086194, 28160151, 28169962, 28306509, 28366621, 28379402, 28399880, 28407791, 28620835, 28621812, 28656059, 28688199, 28744025, 28765939, 28778978, 29020610, 29040870, 29079356, 29138676, 29166608, 29180628, 29180793, 29223129, 29349575, 29353703, 29367643, 29561660, 29665074, 29681024, 29760428, 29852216, 29893854, 29903906, 29941042, 29987020, 29995555, 30074231, 30081712, 30099245, 30121162, 30200940, 30219582, 30252570, 30324423, 30378174, 30404819, 30702579, 30806158, 30885942, 30945962, 30974833, 31060423, 31091796, 31138137, 31142803, 31178336, 31255538, 31285534, 31308240, 31316206, 31324919, 31406131, 31413265, 31445161, 31512170, 31594949, 31647998, 31695088, 31698191, 31715428, 31801089, 9793932, 9808335, 9856485		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	10824074, 12058349, 12397156, 12692130, 14756800, 15606901, 15718234, 15728840, 15816865, 15944382, 16227559, 16352719, 16606767, 17203291, 17324265, 17360614, 17472700, 18211709, 18248610, 18389263, 18413468, 18486522, 18601999, 18845538, 18987353, 19038850, 19050041, 19074146, 19205068, 19229105, 19330201, 19351622, 19615059, 19617340, 19636047, 19801972, 19815446, 19880420, 19966284, 20034704, 20182943, 20558392, 20669327, 20837857, 20871098, 20876472, 20885945, 20889486, 21092386, 21113145, 21139416, 21205674, 21215313, 21292769, 21412835, 21488853, 21615408, 21694720, 21829596, 21856206, 21875422, 21921694, 21993715, 22135858, 22354088, 22361577, 22377733, 22432004, 22581678, 22623900, 22666358, 22841634, 23099318, 23393160, 23727886, 23767969, 23770887, 23818421, 23885119, 24063657, 24149440, 24149988, 24167364, 24176932, 24190026, 24270810, 24375549, 24446486, 24582596, 24675778, 24721425, 24729340, 24800761, 24928900, 24991765, 25284222, 25332110, 25375667, 25404737, 25640678, 25666615, 25689131, 25700639, 25801386, 25817512, 25833766, 25939424, 26016408, 26101826, 26245297, 26274610, 26365381, 26399642, 26465922, 26509433, 26631732, 26975375, 27094865, 27148961, 27191603, 27456084, 27484150, 27590295, 27716287, 27776828, 27788143, 27926857, 28007983, 28038320, 28124432, 28281653, 28306509, 28429747, 28438176, 28467897, 28523222, 28598236, 28972555, 29138676, 29223129, 29353703, 29568695, 29577677, 29769545, 29852216, 29947276, 30328284, 30375512, 30629163, 30658665, 30702579, 30754623, 30911576, 30945962, 30994895, 31110043, 31180333, 31284683, 31285534, 31308240, 31324919, 31366968, 31386307, 31432739, 31512170, 31660654, 31695088, 31698191, 31715428, 31781339, 31902706, 31911436, 32151951, 32156628, 32193420, 32391545, 32420915, 32447234, 32581291, 32677319, 32786404, 32856414, 32864185, 32870915, 32945884, 33019779, 33023155, 33029508, 33029617, 33045815, 33150996, 33305682, 33448283, 33539026, 33707392, 33751372, 33757554, 33818904, 33845304, 33888730, 33947435, 34048689, 34076298, 34127073, 34148545, 34427338, 34464855, 34674795, 34696975, 34762687, 34844982, 35052345, 35053314, 35121197, 35181782, 35378365, 35561458, 35786295, 36047447, 36379251, 36469690, 36478228, 36499697, 36608804, 36692014, 36768317, 36768338, 36781956, 36980871, 37014258, 37142218, 37264311, 37302428, 37658959, 37716354, 37833780, 37890334, 37906549, 38229174, 38309147, 38317520, 39273568, 39300082, 39329724, 39405989, 39957199, 40013651, 40282414, 40294793	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	12044248, 12138708, 12150907, 12362318, 12374768, 12670421, 12673578, 12691660, 12784265, 14991825, 15105460, 15453267, 15717024, 15728840, 15894486, 16086186, 16130151, 16215938, 16227987, 16244875, 16352719, 16367892, 16502212, 16511856, 16793319, 16840513, 17935510, 18068301, 18188499, 18486522, 18519021, 18987353		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	12588799, 15198987, 15882845, 16573651, 17010972, 19946270, 22043175, 22841634, 23628791, 24582596, 25149416, 25631236, 28284907		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	36350063	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	CTD_human_DG	10072423, 10894217, 11254447, 12764051, 16914382, 23046578, 25640678, 26558463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	CLINVAR_DG	10072423, 10824074, 11558785, 12056932, 12397156, 12629236, 12764050, 12891670, 14519684, 15090472, 15390068, 15606901, 15970950, 16049031, 16227559, 16339143, 16476817, 16643317, 16769863, 17095157, 17766365, 18211709, 18486522, 18519021, 18973255, 19205068, 19636047, 20404107, 20558392, 20604804, 20798600, 21348451, 21694720, 21996382, 22777964, 22956510, 23275044, 23751051, 23770917, 23818421, 24167364, 24647965, 24831986, 25815004, 25877876, 25907632, 25939424, 26188007, 26274610, 26631732, 26683220, 27206984, 27534820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	UNIPROT_DG	10072423, 10824074, 10888878, 10939576, 11163284, 11179010, 11431533, 11487568, 11590439, 11971093, 12056932, 12112109, 12114481, 12116199, 12362318, 12397156, 12629236, 12730996, 12925569, 15584030, 17360614, 19229105, 19801972, 20404107, 20889486, 20889974, 21376232, 22956510, 9560156, 9731209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	BEFREE	10319893, 10534280, 10824074, 10888878, 10899410, 10965160, 10983716, 11009195, 11128608, 11402119, 11459900, 11580890, 11782979, 12374768, 12397156, 12446971, 12547187, 12548371, 12634850, 12781588, 12846978, 12874785, 12889082, 14530399, 14978667, 15249681, 15503153, 15635662, 15684050, 15689351, 15704207, 15852366, 16019250, 16096643, 16287063, 16339143, 16517073, 16769863, 17678490, 18008369, 18031467, 18346797, 19131043, 19491146, 19832807, 19945426, 20696900, 20724841, 21348451, 21663383, 21682904, 22271254, 22527713, 22562816, 23770917, 24297497, 24578538, 25583483, 25843045, 25877876, 26161729, 26188007, 26864383, 27177722, 27828868, 27846363, 28254618, 28284907, 28335015, 29160309, 29166608, 29349575, 29494565, 29501959, 29995846, 31229841, 31753025, 9560156, 9634531, 9731209, 9851438		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	GENOMICS_ENGLAND_DG	22956510, 9560156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease 6, Autosomal Recessive Early-Onset	Parkinson disease	BEFREE	29166608, 30344006, 31431260		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	Parkinson disease	BEFREE	15717024, 22956510, 27534820		★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	11179010, 11561042, 11920285, 12728478, 15725358, 17400506, 19087301, 19483198, 19615059, 19815446, 20669327, 23350010, 23459986, 23628791, 23767969, 27302064, 30237140, 30788857, 32864185, 33029617, 34704599	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	10319889, 11468333, 11487208, 16367892, 19909784, 20629119, 21176923, 21322020, 21734494, 22766139, 24671417, 25843045, 25960264, 30099245		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	UNIPROT_DG	12629236, 12730996, 19966284, 29311685		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease, Secondary Vascular	Parkinson Disease	CTD_human_DG	15993444		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	10072423, 10894217, 10899410, 10984666, 10991669, 11163284, 11222788, 11222808, 11261512, 11487568, 11552035, 11558785, 11561042, 11684352, 11911988, 11920285, 12056932, 12112109, 12116199, 12210855, 12548343, 12584415, 12728478, 12764050, 12764051, 12781599, 12815654, 12940846, 14714215, 15148147, 15197707, 15455441, 15557340, 15596756, 15635662, 15642853, 15862897, 15947065, 16227987, 16511856, 16517073, 17052189, 17068781, 17095157, 17149727, 17687034, 17766365, 18759365, 19087301, 19734163, 19845000, 19922375, 20221696, 20625164, 20629119, 20630868, 20669327, 20694531, 20889974, 22166450, 22431710, 23459986, 23751051, 24244333, 24297497, 24784582, 25849933, 25877876, 26238155, 27383763, 27667361, 27913844, 29508456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	CTD_human_DG	10072423, 10894217, 11254447, 12764051, 16914382, 23046578, 25640678, 26558463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson disease	Pubtator	10824074, 11078524, 11179010, 11254447, 11439185, 11459900, 11462174, 11553688, 12034719, 12397156, 12621021, 12634850, 12719539, 12728478, 12972428, 14532270, 17360614, 18248624, 18987353, 19050041, 19087301, 19205068, 19351622, 19761607, 19801972, 19875440, 20182943, 20547844, 20598272, 20724841, 20876472, 20885945, 20889974, 20940149, 21091474, 21113145, 21348451, 21625422, 21682904, 21694720, 21921694, 22623900, 23459931, 24023840, 24149440, 24189060, 25833766, 26254304, 26260794, 27302064, 27412236, 27713507, 28368777, 29530980, 29577677, 29995846, 30702579, 30875974, 30911576, 33019779, 33751372, 39456270, 40565523, 9634531	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	LHGDN	12034719, 12548343, 12719539, 12781599, 12815654, 15326242, 15781988, 17680541, 18561034, 19067348, 19087301		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonism, Juvenile	Parkinsonian disease	CTD_human_DG	10072423, 10894217, 11254447, 12764051, 16914382, 23046578, 25640678, 26558463		★☆☆☆☆ Found in Text Mining only
Parkinsonism, Juvenile	Parkinsonian disease	BEFREE	10984665, 11405814, 11684352, 19672985, 20418918, 23470638, 25136611, 27177722, 30099245		★☆☆☆☆ Found in Text Mining only
Parkinsonism, Juvenile	Parkinsonian disease	GENOMICS_ENGLAND_DG	22956510, 9560156		★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	27694961		★☆☆☆☆ Found in Text Mining only
Patterned dystrophy of retinal pigment epithelium	Patterned macular dystrophy	Pubtator	30012208	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	31681304	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	12781600		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	12781600		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	21360662, 27042285, 27824727, 31160454		★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	32864185	Associate	★☆☆☆☆ Found in Text Mining only
Popliteal pterygium syndrome	Popliteal Pterygium Syndrome	BEFREE	27936908		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	31594949		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	29849118		★☆☆☆☆ Found in Text Mining only
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	29849118		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	16287063, 21663383		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	30116272		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	20669327, 29887346, 30324423		★☆☆☆☆ Found in Text Mining only
Primary Dysautonomias	Dysautonomia	Pubtator	33045815	Associate	★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	12446971, 12465088, 30324423		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	17016436, 20587519, 20832018, 21514447, 23225159, 25204806, 25759396, 25883222, 27070713, 28805822, 29262542, 29463595, 30479348, 30952903, 30955223, 31472148, 31559706		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32264916	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohypoaldosteronism, Type II	Pseudohypoaldosteronism	BEFREE	23962426		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	20054338		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	25714760, 38110986	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30302028	Stimulate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26921108, 28577568		★☆☆☆☆ Found in Text Mining only
Ramsay Hunt Paralysis Syndrome	Ramsay Hunt Paralysis Syndrome	CTD_human_DG	10072423, 10894217, 11254447, 12764051, 16914382, 23046578, 25640678, 26558463		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	12032852, 14757845		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	12032852, 15735686, 18481984, 21652636		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31825802		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	19526454		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	20832018		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	15759013, 16802346, 19116932, 28395174, 29039504, 29916549, 30306455, 30365055		★☆☆☆☆ Found in Text Mining only
Saethre-Chotzen Syndrome	Saethre-Chotzen Syndrome	BEFREE	17003487		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	27846195		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	BEFREE	28744025		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Schizophrenia	Schizophrenia	Pubtator	36980871	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Secondary Parkinson Disease	Parkinson disease	CTD_human_DG	15993444		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sepsis	Sepsis	Pubtator	33494815	Inhibit	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	21126200, 30465941		★☆☆☆☆ Found in Text Mining only
Severe Acute Respiratory Syndrome	Severe Acute Respiratory Syndrome	BEFREE	28148787		★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	21292769, 25315681	Associate	★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 11, autosomal recessive	Spastic Paraplegia	BEFREE	20694531		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	25790475		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33227411, 33456497	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	BEFREE	26908436		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24596130, 27244893		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25769451, 28400336, 28521418		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	26857264, 35039565, 36195596	Associate	★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	Pubtator	30772522	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	BEFREE	27694961		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	18346797		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	24138990		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	24138990		★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	12397156, 30702579, 32864185	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	18172692		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	26317899, 29662198, 30517763, 31845129		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26317899	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	26083618		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	28631565		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	23010174, 28631565	Associate	★☆☆☆☆ Found in Text Mining only
Vesico-Ureteral Reflux	Vesicoureteral Reflux	GWASCAT_DG	29097723		★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	14757845, 16261165, 16407835, 16925945, 17936701, 17967880, 18481984		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	18398435		★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	CLINVAR_DG	10072423, 12891670, 14519684, 15390068, 16049031, 19162522, 19636047, 19801972, 22555654, 23531835, 25591737, 25815004, 25907632, 25939424, 26836416, 26855076, 27182553, 27294386		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Young onset Parkinson disease	Parkinson disease	BEFREE	10226936, 10824074, 11558785, 12756135, 12975291, 14872018, 15108293, 15390068, 15584030, 15603737, 16227559, 16328510, 16367892, 16476817, 16502212, 16606767, 16837855, 16973374, 17324265, 17353387, 18068301, 18188499, 18387843, 18519021, 18586549, 18817813, 19029340, 19214605, 19617340, 19735094, 19946270, 20399249, 20558392, 20629119, 20797900, 21092386, 21506149, 21534944, 21993715, 22302706, 22766139, 22927236, 22956510, 23986421, 24167364, 24677602, 24831986, 24878071, 25136611, 25238391, 25591737, 25817512, 27336715, 27455133, 27592010, 27776828, 28106473, 28109117, 28211874, 28361483, 28438176, 28620835, 28789629, 28830306, 28913705, 29577677, 30099245, 30242232, 30328284, 30702579, 30994895, 31386307, 31409571, 31846738, 9856485		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Young-onset Parkinson disease	Parkinson disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)