LRRK2 (leucine rich repeat kinase 2)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 120892
• Gene name: Leucine rich repeat kinase 2
• Gene symbol: LRRK2
• Synonyms (NCBI Gene): AURA17, DARDARIN, PARK8, RIPK7, ROCO2
• Chromosome: 12
• Chromosome location: 12q12
• Summary: This gene is a member of the leucine-rich repeat kinase family and encodes a protein with an ankryin repeat region, a leucine-rich repeat (LRR) domain, a kinase domain, a DFG-like motif, a RAS domain, a GTPase domain, a MLK-like domain, and a WD40 domain.

SNPs Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs33939927	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs33949390	G>A,C,T	Pathogenic, uncertain-significance, benign, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs33995463	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs34594498	C>T	Pathogenic, benign	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs34637584	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs34805604	A>G	Pathogenic	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs34995376	G>A	Pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs35173587	G>A,T	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs35801418	A>G	Pathogenic	Missense variant, 3 prime UTR variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs35808389	A>G	Likely-benign, pathogenic	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs35870237	T>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs74163686	A>C	Pathogenic	Missense variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs78501232	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs201439315	A>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs281865052	A>G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs281865054	G>A,T	Pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant
rs1555176408	C>T	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic upstream transcript variant

miRNA Show/Hide all (28)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007191	hsa-miR-205-5p	Luciferase reporter assay, qRT-PCR, Western blot	23125283
MIRT017071	hsa-miR-335-5p	Microarray	18185580
MIRT438831	hsa-miR-582-5p	qRT-PCR	23295946
MIRT438822	hsa-miR-582-3p	qRT-PCR	23295946
MIRT438831	hsa-miR-582-5p	qRT-PCR	23295946
MIRT438822	hsa-miR-582-3p	qRT-PCR	23295946
MIRT1120935	hsa-miR-3150b-3p	CLIP-seq
MIRT1120936	hsa-miR-4496	CLIP-seq
MIRT1120937	hsa-miR-4699-3p	CLIP-seq
MIRT1120938	hsa-miR-4784	CLIP-seq
MIRT2034236	hsa-miR-511	CLIP-seq
MIRT2034237	hsa-miR-579	CLIP-seq
MIRT2034238	hsa-miR-664	CLIP-seq
MIRT2034239	hsa-miR-671-5p	CLIP-seq
MIRT2264682	hsa-miR-141	CLIP-seq
MIRT2264683	hsa-miR-200a	CLIP-seq
MIRT2264684	hsa-miR-3169	CLIP-seq
MIRT1120936	hsa-miR-4496	CLIP-seq
MIRT2264685	hsa-miR-4652-3p	CLIP-seq
MIRT2264686	hsa-miR-4677-3p	CLIP-seq
MIRT2264687	hsa-miR-4679	CLIP-seq
MIRT1120937	hsa-miR-4699-3p	CLIP-seq
MIRT2264688	hsa-miR-4724-5p	CLIP-seq
MIRT2264689	hsa-miR-4740-5p	CLIP-seq
MIRT2034237	hsa-miR-579	CLIP-seq
MIRT2563586	hsa-miR-380	CLIP-seq
MIRT2563587	hsa-miR-4495	CLIP-seq
MIRT2563588	hsa-miR-4536	CLIP-seq

Gene ontology (GO) Show/Hide all (267)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000149	Function	SNARE binding	IPI	21307259
GO:0000165	Process	MAPK cascade	IDA	17200152
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IMP	28720718
GO:0003779	Function	Actin binding	IPI	21307259
GO:0003924	Function	GTPase activity	IDA	21048939
GO:0003924	Function	GTPase activity	IEA
GO:0004672	Function	Protein kinase activity	IDA	16269541, 16321986, 17442267, 21850687, 25500533
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	26751287
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	17200152, 19576176, 21048939, 21850687, 22423108, 23949442, 27830463
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IMP	28720718
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	22899650
GO:0004706	Function	JUN kinase kinase kinase activity	IBA
GO:0004706	Function	JUN kinase kinase kinase activity	IDA	19302196
GO:0004709	Function	MAP kinase kinase kinase activity	IDA	19302196
GO:0005096	Function	GTPase activator activity	IDA	17442267
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	16321986, 16352719, 17400507, 18445495, 19176810, 19196961, 19559761, 19625296, 19712061, 20067578, 20144646, 20173330, 20642453, 20671708, 21048939, 21159966, 21307259, 21370995, 21454543, 21658387, 21850687, 21983832, 22228096, 22303461, 22363216, 22612223, 22639965, 22899650, 229
GO:0005524	Function	ATP binding	IEA
GO:0005525	Function	GTP binding	IDA	16980962, 17260967, 17442267
GO:0005525	Function	GTP binding	IEA
GO:0005525	Function	GTP binding	TAS	22899650
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IDA	16321986, 16352719, 19625296
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IMP	26014385
GO:0005739	Component	Mitochondrion	IDA	21850687
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	ISS
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	ISS
GO:0005768	Component	Endosome	IEA
GO:0005768	Component	Endosome	ISS
GO:0005783	Component	Endoplasmic reticulum	IDA	19640926
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IDA	23395371
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0005798	Component	Golgi-associated vesicle	IDA	24510904
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005829	Component	Cytosol	IDA	21850687, 22736029, 22899650, 24403142
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	22899650
GO:0005886	Component	Plasma membrane	IEA
GO:0005902	Component	Microvillus	IDA	19640926
GO:0006468	Process	Protein phosphorylation	IMP	28720718
GO:0006606	Process	Protein import into nucleus	IEA
GO:0006897	Process	Endocytosis	IGI	24576675
GO:0006897	Process	Endocytosis	IMP	24576675
GO:0006914	Process	Autophagy	IEA
GO:0006979	Process	Response to oxidative stress	IMP	19692353
GO:0007005	Process	Mitochondrion organization	IMP	22764206
GO:0007029	Process	Endoplasmic reticulum organization	IBA
GO:0007029	Process	Endoplasmic reticulum organization	IEA
GO:0007029	Process	Endoplasmic reticulum organization	IMP	25201882
GO:0007030	Process	Golgi organization	IBA
GO:0007030	Process	Golgi organization	IEA
GO:0007030	Process	Golgi organization	IEA
GO:0007030	Process	Golgi organization	IMP	24510904
GO:0007040	Process	Lysosome organization	IMP	25416817
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007254	Process	JNK cascade	IDA	19302196
GO:0007266	Process	Rho protein signal transduction	IDA	25500533
GO:0007283	Process	Spermatogenesis	IEA
GO:0007528	Process	Neuromuscular junction development	IMP	21159966
GO:0008017	Function	Microtubule binding	TAS	24115276
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008104	Process	Intracellular protein localization	IEA
GO:0008104	Process	Intracellular protein localization	ISS
GO:0008340	Process	Determination of adult lifespan	IMP	19692353
GO:0009267	Process	Cellular response to starvation	IMP	24211199
GO:0009653	Process	Anatomical structure morphogenesis	IEA
GO:0009968	Process	Negative regulation of signal transduction	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010506	Process	Regulation of autophagy	IMP	24211199
GO:0010508	Process	Positive regulation of autophagy	IBA
GO:0010508	Process	Positive regulation of autophagy	IEA
GO:0010508	Process	Positive regulation of autophagy	IMP	22012985
GO:0010508	Process	Positive regulation of autophagy	ISS
GO:0010955	Process	Negative regulation of protein processing	IDA	21370995
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0014041	Process	Regulation of neuron maturation	IMP	21168496
GO:0015631	Function	Tubulin binding	IDA	21159966
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016242	Process	Negative regulation of macroautophagy	IMP	19640926
GO:0016301	Function	Kinase activity	IDA	17114044
GO:0016301	Function	Kinase activity	IEA
GO:0016301	Function	Kinase activity	IMP	23916833
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0017075	Function	Syntaxin-1 binding	IPI	21307259
GO:0019722	Process	Calcium-mediated signaling	IMP	25416817
GO:0021756	Process	Striatum development	IEA
GO:0021772	Process	Olfactory bulb development	IMP	21168496
GO:0022028	Process	Tangential migration from the subventricular zone to the olfactory bulb	IMP	21168496
GO:0030154	Process	Cell differentiation	IEA
GO:0030159	Function	Signaling receptor complex adaptor activity	IDA	22899650
GO:0030159	Function	Signaling receptor complex adaptor activity	IEA
GO:0030162	Process	Regulation of proteolysis	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030276	Function	Clathrin binding	IPI	21307259
GO:0030424	Component	Axon	IDA	17120249
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IBA
GO:0030425	Component	Dendrite	IDA	17120249
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030426	Component	Growth cone	IDA	19625296
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0031267	Function	Small GTPase binding	IPI	21048939
GO:0031344	Process	Regulation of cell projection organization	IBA
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	16352719, 20173330
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	ISS
GO:0031647	Process	Regulation of protein stability	IMP	26014385
GO:0031965	Component	Nuclear membrane	IDA
GO:0031966	Component	Mitochondrial membrane	IDA	22736029
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	ISS
GO:0032473	Component	Cytoplasmic side of mitochondrial outer membrane	IDA	16269541
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0032839	Component	Dendrite cytoplasm	IDA	21696411
GO:0034211	Function	GTP-dependent protein kinase activity	IDA	17260967
GO:0034211	Function	GTP-dependent protein kinase activity	IMP	17200152
GO:0034260	Process	Negative regulation of GTPase activity	IDA	22423108
GO:0034599	Process	Cellular response to oxidative stress	IMP	21362567, 21857923, 22764206
GO:0034614	Process	Cellular response to reactive oxygen species	IMP	24576675
GO:0035542	Process	Regulation of SNARE complex assembly	IMP	23949442
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0035556	Process	Intracellular signal transduction	ISS
GO:0035564	Process	Regulation of kidney size	IEA
GO:0035564	Process	Regulation of kidney size	ISS
GO:0035640	Process	Exploration behavior	IEA
GO:0035640	Process	Exploration behavior	IMP	20659558
GO:0035641	Process	Locomotory exploration behavior	IEA
GO:0035751	Process	Regulation of lysosomal lumen pH	IMP	22012985
GO:0036064	Component	Ciliary basal body	IDA
GO:0036479	Function	Peroxidase inhibitor activity	IDA	21850687
GO:0039706	Function	Co-receptor binding	TAS	24115276
GO:0040012	Process	Regulation of locomotion	IMP	19692353
GO:0042391	Process	Regulation of membrane potential	IEA
GO:0042391	Process	Regulation of membrane potential	IMP	21159966
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	16321986, 18230735, 18397888, 19712061, 19733152, 20515039, 21073465, 22363216, 22952686, 23220480, 23241358, 24275654, 24591621, 24904275, 26824392, 27013965, 27357661, 38127736
GO:0042803	Function	Protein homodimerization activity	IPI	16321986
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IDA	19625296, 21048939
GO:0043025	Component	Neuronal cell body	IDA	21048939, 21696411
GO:0043025	Component	Neuronal cell body	IEA
GO:0043068	Process	Positive regulation of programmed cell death	IDA	17200152
GO:0043195	Component	Terminal bouton	IEA
GO:0043195	Component	Terminal bouton	TAS	21563316
GO:0043204	Component	Perikaryon	IDA	17120249
GO:0043204	Component	Perikaryon	IEA
GO:0043204	Component	Perikaryon	ISS
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	21857923, 23628791
GO:0044325	Function	Transmembrane transporter binding	IPI	21370995, 22012985
GO:0044753	Component	Amphisome	IDA	19640926
GO:0044754	Component	Autolysosome	IDA	19640926
GO:0045121	Component	Membrane raft	IEA
GO:0045202	Component	Synapse	IEA
GO:0045335	Component	Phagocytic vesicle	IEA
GO:0045746	Process	Negative regulation of Notch signaling pathway	IEA
GO:0046039	Process	GTP metabolic process	IDA	21048939
GO:0046777	Process	Protein autophosphorylation	IDA	16269541, 16321986, 17200152, 17442267
GO:0046777	Process	Protein autophosphorylation	IMP	16980962
GO:0048312	Process	Intracellular distribution of mitochondria	IMP	21159966
GO:0048513	Process	Animal organ development	IEA
GO:0048812	Process	Neuron projection morphogenesis	IMP	17114044
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0051018	Function	Protein kinase A binding	IEA
GO:0051018	Function	Protein kinase A binding	IPI	24464040
GO:0051239	Process	Regulation of multicellular organismal process	IEA
GO:0051247	Process	Positive regulation of protein metabolic process	IEA
GO:0051646	Process	Mitochondrion localization	IMP	22764206
GO:0051900	Process	Regulation of mitochondrial depolarization	IMP	22736029
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	IEA
GO:0051966	Process	Regulation of synaptic transmission, glutamatergic	ISS
GO:0060070	Process	Canonical Wnt signaling pathway	TAS	24115276
GO:0060079	Process	Excitatory postsynaptic potential	IEA
GO:0060079	Process	Excitatory postsynaptic potential	ISS
GO:0060159	Process	Regulation of dopamine receptor signaling pathway	IBA
GO:0060159	Process	Regulation of dopamine receptor signaling pathway	IEA
GO:0060159	Process	Regulation of dopamine receptor signaling pathway	ISS
GO:0060161	Process	Positive regulation of dopamine receptor signaling pathway	IMP	20659558
GO:0060627	Process	Regulation of vesicle-mediated transport	IEA
GO:0060628	Process	Regulation of ER to Golgi vesicle-mediated transport	IEA
GO:0060628	Process	Regulation of ER to Golgi vesicle-mediated transport	ISS
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IBA
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	IEA
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	TAS	22988876
GO:0061001	Process	Regulation of dendritic spine morphogenesis	IEA
GO:0061001	Process	Regulation of dendritic spine morphogenesis	IMP	21168496
GO:0061001	Process	Regulation of dendritic spine morphogenesis	ISS
GO:0070013	Component	Intracellular organelle lumen	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070585	Process	Protein localization to mitochondrion	TAS	24252804
GO:0070971	Component	Endoplasmic reticulum exit site	IDA	25201882
GO:0070971	Component	Endoplasmic reticulum exit site	IEA
GO:0070973	Process	Protein localization to endoplasmic reticulum exit site	IEA
GO:0070973	Process	Protein localization to endoplasmic reticulum exit site	IMP	25201882
GO:0071287	Process	Cellular response to manganese ion	IMP	23628791
GO:0090140	Process	Regulation of mitochondrial fission	TAS	24252804
GO:0090263	Process	Positive regulation of canonical Wnt signaling pathway	IGI	22899650
GO:0090394	Process	Negative regulation of excitatory postsynaptic potential	IEA
GO:0090394	Process	Negative regulation of excitatory postsynaptic potential	ISS
GO:0097487	Component	Multivesicular body, internal vesicle	IDA	19640926
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099400	Component	Caveola neck	IDA	19640926
GO:0099523	Component	Presynaptic cytosol	IEA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0140058	Process	Neuron projection arborization	IEA
GO:0141161	Process	Regulation of cAMP/PKA signal transduction	IEA
GO:0141161	Process	Regulation of cAMP/PKA signal transduction	ISS
GO:1900242	Process	Regulation of synaptic vesicle endocytosis	IBA
GO:1900242	Process	Regulation of synaptic vesicle endocytosis	IEA
GO:1900244	Process	Positive regulation of synaptic vesicle endocytosis	IEA
GO:1901030	Process	Positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	IDA	21370995
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IMP	21857923
GO:1902499	Process	Positive regulation of protein autoubiquitination	IDA	16352719
GO:1902531	Process	Regulation of intracellular signal transduction	IEA
GO:1902692	Process	Regulation of neuroblast proliferation	IMP	21168496
GO:1902803	Process	Regulation of synaptic vesicle transport	IEA
GO:1902803	Process	Regulation of synaptic vesicle transport	ISS
GO:1902803	Process	Regulation of synaptic vesicle transport	TAS	21563316
GO:1902823	Process	Negative regulation of late endosome to lysosome transport	TAS	23949442
GO:1902902	Process	Negative regulation of autophagosome assembly	IMP	23916833
GO:1903215	Process	Negative regulation of protein targeting to mitochondrion	IDA	21370995
GO:1903217	Process	Negative regulation of protein processing involved in protein targeting to mitochondrion	IC	21370995
GO:1903351	Process	Cellular response to dopamine	IMP	23628791
GO:1903980	Process	Positive regulation of microglial cell activation	IEA
GO:1904644	Process	Cellular response to curcumin	IEA
GO:1904713	Function	Beta-catenin destruction complex binding	IEA
GO:1904713	Function	Beta-catenin destruction complex binding	NAS	24115276
GO:1904887	Process	Wnt signalosome assembly	IEA
GO:1904887	Process	Wnt signalosome assembly	IPI	22899650
GO:1904887	Process	Wnt signalosome assembly	TAS	24115276
GO:1905279	Process	Regulation of retrograde transport, endosome to Golgi	IGI	23395371
GO:1905289	Process	Regulation of CAMKK-AMPK signaling cascade	IMP	22012985
GO:1990904	Component	Ribonucleoprotein complex	IEA
GO:1990909	Component	Wnt signalosome	IDA	22899650
GO:1990909	Component	Wnt signalosome	IEA
GO:1990909	Component	Wnt signalosome	NAS	24115276
GO:2000172	Process	Regulation of branching morphogenesis of a nerve	IMP	21168496
GO:2000300	Process	Regulation of synaptic vesicle exocytosis	IMP	23949442
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	IMP	24576675

Other IDs

• MIM: 609007
• HGNC: 18618
• e!Ensembl: ENSG00000188906

Protein

• UniProt ID: Q5S007
• Protein name: Leucine-rich repeat serine/threonine-protein kinase 2 (EC 2.7.11.1) (EC 3.6.5.-) (Dardarin)
• Protein function: Serine/threonine-protein kinase which phosphorylates a broad range of proteins involved in multiple processes such as neuronal plasticity, innate immunity, autophagy, and vesicle trafficking (PubMed:17114044, PubMed:20949042, PubMed:21850687, Pu
• PDB: 2ZEJ , 3D6T , 5MY9 , 5MYC , 6DLO , 6DLP , 6OJE , 6OJF , 6VNO , 6VP6 , 6VP7 , 6XAF , 6XR4 , 7LHT , 7LHW , 7LI3 , 7LI4 , 7THY , 7THZ , 8FO2 , 8FO7 , 8FO8 , 8FO9 , 8SMC , 8TXZ , 8TYQ , 8TZB , 8TZC , 8TZE , 8TZF , 8TZG , 8TZH , 8U1B , 8U7H , 8U7L , 8U8A , 8U8B , 8VH4 , 8VH5 , 9C76 , 9CHO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08477	Roc	1336 → 1456		Domain
  PF12799	LRR_4	1245 → 1293	Leucine Rich repeats (2 copies)	Repeat
  PF13855	LRR_8	1011 → 1070	Leucine rich repeat	Repeat
  PF16095	COR	1524 → 1740	C-terminal of Roc, COR, domain	Family
  PF00069	Pkinase	1881 → 2132	Protein kinase domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in pyramidal neurons in all cortical laminae of the visual cortex, in neurons of the substantia nigra pars compacta and caudate putamen (at protein level). Expressed in neutrophils (at protein level) (PubMed:29127255). Expres
• Sequence:

  MASGSCQGCEEDEETLKKLIVRLNNVQEGKQIETLVQILEDLLVFTYSERASKLFQGKNI
  HVPLLIVLDSYMRVASVQQVGWSLLCKLIEVCPGTMQSLMGPQDVGNDWEVLGVHQLILK
  MLTVHNASVNLSVIGLKTLDLLLTSGKITLLILDEESDIFMLIFDAMHSFPANDEVQKLG
  CKALHVLFERVSEEQLTEFVENKDYMILLSALTNFKDEEEIVLHVLHCLHSLAIPCNNVE
  VLMSGNVRCYNIVVEAMKAFPMSERIQEVSCCLLHRLTLGNFFNILVLNEVHEFVVKAVQ
  QYPENAALQISALSCLALLTETIFLNQDLEEKNENQENDDEGEEDKLFWLEACYKALTWH
  RKNKHVQEAACWALNNLLMYQNSLHEKIGDEDGHFPAHREVMLSMLMHSSSKEVFQASAN
  ALSTLLEQNVNFRKILLSKGIHLNVLELMQKHIHSPEVAESGCKMLNHLFEGSNTSLDIM
  AAVVPKILTVMKRHETSLPVQLEALRAILHFIVPGMPEESREDTEFHHKLNMVKKQCFKN
  DIHKLVLAALNRFIGNPGIQKCGLKVISSIVHFPDALEMLSLEGAMDSVLHTLQMYPDDQ
  EIQCLGLSLIGYLITKKNVFIGTGHLLAKILVSSLYRFKDVAEIQTKGFQTILAILKLSA
  SFSKLLVHHSFDLVIFHQMSSNIMEQKDQQFLNLCCKCFAKVAMDDYLKNVMLERACDQN
  NSIMVECLLLLGADANQAKEGSSLICQVCEKESSPKLVELLLNSGSREQDVRKALTISIG
  KGDSQIISLLLRRLALDVANNSICLGGFCIGKVEPSWLGPLFPDKTSNLRKQTNIASTLA
  RMVIRYQMKSAVEEGTASGSDGNFSEDVLSKFDEWTFIPDSSMDSVFAQSDDLDSEGSEG
  SFLVKKKSNSISVGEFYRDAVLQRCSPNLQRHSNSLGPIFDHEDLLKRKRKILSSDDSLR
  SSKLQSHMRHSDSISSLASEREYITSLDLSANELRDIDALSQKCCISVHLEHLEKLELHQ
  NALTSFPQQLCETLKSLTHLDLHSNKFTSFPSYLLKMSCIANLDVSRNDIGPSVVLDPTV
  KCPTLKQFNLSYNQLSFVPENLTDVVEKLEQLILEGNKISGICSPLRLKELKILNLSKNH
  ISSLSENFLEACPKVESFSARMNFLAAMPFLPPSMTILKLSQNKFSCIPEAILNLPHLRS
  LDMSSNDIQYLPGPAHWKSLNLRELLFSHNQISILDLSEKAYLWSRVEKLHLSHNKLKEI
  PPEIGCLENLTSLDVSYNLELRSFPNEMGKLSKIWDLPLDELHLNFDFKHIGCKAKDIIR
  FLQQRLKKAVPYNRMKLMIVGNTGSGKTTLLQQLMKTKKSDLGMQSATVGIDVKDWPIQI
  RDKRKRDLVLNVWDFAGREEFYSTHPHFMTQRALYLAVYDLSKGQAEVDAMKPWLFNIKA
  RASSSPVILVGTHLDVSDEKQRKACMSKITKELLNKRGFPAIRDYHFVNATEESDALAKL
  RKTIINESLNFKIRDQLVVGQLIPDCYVELEKIILSERKNVPIEFPVIDRKRLLQLVREN
  QLQLDENELPHAVHFLNESGVLLHFQDPALQLSDLYFVEPKWLCKIMAQILTVKVEGCPK
  HPKGIISRRDVEKFLSKKRKFPKNYMSQYFKLLEKFQIALPIGEEYLLVPSSLSDHRPVI
  ELPHCENSEIIIRLYEMPYFPMGFWSRLINRLLEISPYMLSGRERALRPNRMYWRQGIYL
  NWSPEAYCLVGSEVLDNHPESFLKITVPSCRKGCILLGQVVDHIDSLMEEWFPGLLEIDI
  CGEGETLLKKWALYSFNDGEEHQKILLDDLMKKAEEGDLLVNPDQPRLTIPISQIAPDLI
  LADLPRNIMLNNDELEFEQAPEFLLGDGSFGSVYRAAYEGEEVAVKIFNKHTSLRLLRQE
  LVVLCHLHHPSLISLLAAGIRPRMLVMELASKGSLDRLLQQDKASLTRTLQHRIALHVAD
  GLRYLHSAMIIYRDLKPHNVLLFTLYPNAAIIAKIADYGIAQYCCRMGIKTSEGTPGFRA
  PEVARGNVIYNQQADVYSFGLLLYDILTTGGRIVEGLKFPNEFDELEIQGKLPDPVKEYG
  CAPWPMVEKLIKQCLKENPQERPTSAQVFDILNSAELVCLTRRILLPKNVIVECMVATHH
  NSRNASIWLGCGHTDRGQLSFLDLNTEGYTSEEVADSRILCLALVHLPVEKESWIVSGTQ
  SGTLLVINTEDGKKRHTLEKMTDSVTCLYCNSFSKQSKQKNFLLVGTADGKLAIFEDKTV
  KLKGAAPLKILNIGNVSTPLMCLSESTNSTERNVMWGGCGTKIFSFSNDFTIQKLIETRT
  SQLFSYAAFSDSNIITVVVDTALYIAKQNSPVVEVWDKKTEKLCGLIDCVHFLREVMVKE
  NKESKHKMSYSGRVKTLCLQKNTALWIGTGGGHILLLDLSTRRLIRVIYNFCNSVRVMMT
  AQLGSLKNVMLVLGYNRKNTEGTQKQKEIQSCLTVWDINLPHEVQNLEKHIEVRKELAEK
  MRRTSVE

• Sequence length: 2527

Pathways

KEGG Pathway	Reactome Pathway
Parkinson disease	PTK6 promotes HIF1A stabilization
Pathways of neurodegeneration - multiple diseases

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 Show/Hide Causal Diseases (6)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant Parkinson disease 8	Pathogenic; Likely pathogenic	rs33939927, rs35801418, rs34805604, rs34637584, rs35870237, rs34995376	RCV000002013 RCV000002014 RCV000002015 RCV000002016 RCV000002017 RCV000002018 RCV000002019 RCV000804195	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Interstitial pulmonary disease	Pathogenic	rs2499873877	RCV003482913	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LRRK2-related disorder	Likely pathogenic; Pathogenic	rs34637584	RCV003407254	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson disease	Likely pathogenic; Pathogenic	rs34637584	RCV003993728	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson disease, late-onset	Likely pathogenic; Pathogenic	rs34637584, rs33939927	RCV001836691 RCV000210925	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Young-onset Parkinson disease	Likely pathogenic; Pathogenic	rs34637584	RCV001195216	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (55)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Acute myeloid leukemia	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	35589863	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	26301688, 26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	36810956	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, SPINOCEREBELLAR	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE DISEASE	—	GWAS catalog	26301688	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	26301688	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT LATE ONSET PARKINSON DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPTOSIS	—	CTD	31174552	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain atrophy	Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARCINOMA, RENAL CELL	—	CTD	22138691	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CELIAC DISEASE	—	GWAS catalog	26301688	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMMON VARIABLE IMMUNODEFICIENCY	—	GWAS catalog	26301688	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	18587394, 26192919, 26301688, 26974007, 28067908, 37262302	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHNS DISEASE OF LARGE BOWEL	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early onset Alzheimer disease with behavioral disturbance	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY ONSET ALZHEIMERS DISEASE WITH BEHAVIORAL DISTURBANCE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD	20864642	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia	Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Gastric cancer	Benign; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTRIC ULCER	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY LATE ONSET PARKINSON DISEASE	—	GWAS catalog	22166458	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY LATE-ONSET PARKINSON DISEASE	—	Orphanet	22166458	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	18587394, 26192919, 28067908, 37262302	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE IDIOPATHIC ARTHRITIS	—	GWAS catalog	26301688	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Klippel-Feil syndrome 1, autosomal dominant	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KLIPPEL-FEIL SYNDROME, AUTOSOMAL DOMINANT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leprosy, susceptibility to, 1	Uncertain risk allele; Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	23251661	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 8, AUTOSOMAL DOMINANT	—	CTD, Disgenet CTD, Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease, Dominant	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian disorder	Uncertain significance; Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	CTD, Disgenet CTD, Disgenet	23046578, 25017139, 26558463	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	26301688, 26974007	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOMOTOR DISORDERS	—	CTD	31174552	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rigidity	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS	—	GWAS catalog	26974007, 38490347	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar atrophy	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	26301688	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	26301688	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	26192919, 26301688, 26974007, 28067908	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular parkinsonism	Benign; Likely 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 Show/Hide Text Mining Associations (245)
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 of lung (disorder)	Lung adenocarcinoma	BEFREE	30549039		★☆☆☆☆ Found in Text Mining only
Akinesia	Akinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18322396, 23421816, 24777780, 26394601, 29181857, 30917570, 31217489, 31405128, 31733655, 32941707, 36189598, 37406134, 40363838	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	17846883		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	17846883, 19072560, 19822953		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	29241968, 31733655		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16865326, 18759352, 21375368		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	31405128	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	36707813	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Guam Form	Amyotrophic lateral sclerosis	BEFREE	23588498		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	GWASCAT_DG	26301688, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anosmia	Anosmia	Pubtator	25330404, 31678032, 35995594, 37461169	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	25127457		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	25809001, 38287861	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	25127457		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	17082220, 28586827, 31178673, 34877935	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASDB_DG	21150878		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	37371062	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	16621662		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	30760287, 32383373	Associate	★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	28586827	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	33771108	Associate	★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	23764467		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Juvenile Parkinson Disease	Parkinson Disease	CTD_human_DG	23046578, 25017139, 26558463		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	BEFREE	14691730, 15541309, 15680456, 15726496, 16352719, 16409550, 17116211, 17568014, 17978862, 18809839, 18952485, 26744328, 26811536, 28041945		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	CTD_human_DG	23046578, 25017139, 26558463		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	BEFREE	18787878		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	CTD_human_DG	23046578, 25017139, 26558463		★☆☆☆☆ Found in Text Mining only
Behavior Disorders	Behavior Disorders	BEFREE	22508279		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	21611978	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23765085, 25401981		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25401981, 29568677, 32931768, 32972043, 33658398, 37682166	Associate	★☆☆☆☆ Found in Text Mining only
Calcium Metabolism Disorders	Calcium metabolism disorders	Pubtator	26651604	Associate	★☆☆☆☆ Found in Text Mining only
Canavan Disease	Canavan disease	Pubtator	29795570	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33483550	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28352666, 37033923	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34888137, 36499051	Associate	★☆☆☆☆ Found in Text Mining only
Cataract Nuclear Progressive	Congenital cataract	Pubtator	23075850	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholangitis, Sclerosing	Cholangitis	GWASCAT_DG	26974007		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	22138691		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	17914064, 20008657, 22194196, 24243757, 25401511, 25650144, 26346174, 27111571, 27297049, 31324919, 31505072, 33771108, 33881531, 35644844, 35995594, 37286171, 38287861	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	26282470, 28487191		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	35995594	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	21983832, 29875204		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	28586827	Associate	★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	22138691		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31348549		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31348549	Associate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	GWASCAT_DG	26301688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Constipation	Constipation	Pubtator	25330404	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★☆☆☆☆ Found in Text Mining only
Corticobasal Degeneration	Corticobasal degeneration	Pubtator	17914064, 27709685	Associate	★☆☆☆☆ Found in Text Mining only
Corticobasal degeneration	Corticobasal Degeneration	BEFREE	19142648, 27709685		★☆☆☆☆ Found in Text Mining only
Craniocerebral Trauma	Craniocerebral trauma	Pubtator	32310186	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	29545945		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	18587394, 26192919, 26301688, 26974007, 28067908		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	18587394		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	21152001, 21930071, 23967090, 26844546, 28352666, 28586827, 29321258, 29795570, 30055128, 32180132, 32339904, 33672296, 34313548, 36972292	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	21552986, 21983832, 22302802, 22573572, 22594666, 22988880, 23619718, 23729298, 23967090, 24247223, 27731364, 27830463, 28117607, 28215729, 29795570, 29875204, 30055128, 30209220, 31554740		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Central Nervous System	Degenerative Diseases, Central Nervous System	BEFREE	28720718		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	15541309, 19006185, 19680143, 20197701, 22194196, 27521182, 29859640, 30917570, 37330543, 40617169	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	16087219, 16632201, 17151837, 19740488, 22013209, 22194196, 23963289, 25127457, 25650144, 25840672, 28720718, 28802919, 29038245, 30324423		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	16102903, 18322396		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	25650144	Inhibit	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia of frontal lobe type	Dementia Of Frontal Lobe	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	31825616		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	21753163, 22154298, 25434972, 31678032	Associate	★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	36837510	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	15541309	Associate	★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	38428793	Associate	★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	Digeorge syndrome	Pubtator	24018986	Associate	★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	29124790		★☆☆☆☆ Found in Text Mining only
Disruptive Impulse Control and Conduct Disorders	Disruptive, impulse control, and conduct disorders	Pubtator	32073681	Stimulate	★☆☆☆☆ Found in Text Mining only
Duane Retraction Syndrome	Duane retraction syndrome	Pubtator	18182054, 21454543	Associate	★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	23764467, 28991672		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	17388990, 17614947, 18539534, 19726410, 20818658, 22703868, 26831335, 31175000		★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	22154298	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	17151837, 27628070		★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	20074637, 20386743, 23913756, 31813991, 38640169	Associate	★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	26177462		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	31554740		★☆☆☆☆ Found in Text Mining only
Endometrioma	Endometrioma	CTD_human_DG	20864642		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Tremor	Tremor	BEFREE	16939701, 17482357, 18316234, 19527940, 25761573, 29593234, 29812962		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Tremor	LHGDN	18556235		★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	19527940, 25761573, 29593234	Associate	★☆☆☆☆ Found in Text Mining only
Familial Juvenile Parkinsonism	Parkinsonian disease	CTD_human_DG	23046578, 25017139, 26558463		★☆☆☆☆ Found in Text Mining only
Female sexual dysfunction	Female sexual dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	17151837, 17639429, 27628070, 29315334, 30954774		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	20197701, 31324919, 31405128	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Frontotemporal Lobar Degeneration	Frontotemporal dementia	BEFREE	17151837, 18353371, 19142648		★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	29795570, 33881531	Associate	★☆☆☆☆ Found in Text Mining only
Genetic Predisposition to Disease	Genetic predisposition to disease	Pubtator	18211709	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34929286	Stimulate	★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	29253086, 31444591, 32318850, 38428793	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary late-onset Parkinson disease	Hereditary Parkinson`s Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypersensitivity Immediate	Hypersensitivity	Pubtator	31308240	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	32339904, 32359446, 33672296	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	20232069, 22056842, 24243757, 25127457, 25401511, 25650144, 26282470, 26346174, 27839916, 28487191, 29038245, 30048803, 30420654, 31292011		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	21983832, 29875204, 30223621, 31769472		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919, 28067908		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	30223621, 37698513	Associate	★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal Diseases	BEFREE	23729298		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	31489563		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
KUFOR-RAKEB SYNDROME	Kufor-Rakeb Syndrome	BEFREE	26251043		★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	19142648, 30954774		★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora disease	Pubtator	35962561	Associate	★☆☆☆☆ Found in Text Mining only
Language Disorders	Language development disorders	Pubtator	35644844	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	20018961, 23967090, 24015287, 26844546, 30055128, 31308240, 32339904, 32433683, 33672296, 34313548, 36972292	Associate	★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	21552986, 22302802, 22594666, 22988880, 24015287, 25521227, 27731364, 28117607		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	31348549	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	31348549		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	15541309, 17971075, 18322396, 19680143, 20127702, 20197701, 22194196, 23747310, 24777780, 25401511, 27521182, 30055128, 31405128, 31733655, 32232888, 32719233, 35962561	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	16406842, 16437559, 17512502, 17611037, 18353371, 18541113, 19142648, 19878656, 27521182, 27723861, 30245141		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	LHGDN	16437559		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	38428793	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32972043	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	30670047		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	28099919	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	26301688		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	28099919, 30670047, 30755075		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	30755075		★☆☆☆☆ 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, 25401981		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	22323743, 23765085, 31348549		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	31180559		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20818610, 22323743, 22988880, 24357540, 25401981, 27731364, 28973420, 29993254, 30055128, 31348549		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31348549		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	37629650	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma Cutaneous Malignant	Melanoma	Pubtator	34929286	Associate	★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	20483373		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	34008015	Associate	★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	34008015	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	37371062	Associate	★☆☆☆☆ Found in Text Mining only
Migraine with Aura	Migraine	Pubtator	37884687	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	25127457, 25840672, 28487191		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	22764206, 24148854, 24251413, 25446991, 26399642, 29884186, 36179692, 36208866, 37445652, 39684585	Associate	★☆☆☆☆ Found in Text Mining only
Mixed anxiety and depressive disorder	Mixed Anxiety And Depressive Disorder	BEFREE	29305532		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	21611978, 33771108	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	19142648		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	15541309, 16102999, 16157901, 17200152, 18213618, 24243757, 25330418, 28103901		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	16250030, 18704525, 27378696, 29603409, 30635421, 31138985, 31211166		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	28639421, 31505072, 32073681, 33539026, 33836114, 35049090, 38266062	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	22190364		★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	20197701, 25378673, 27374978	Associate	★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	Pubtator	26177462	Associate	★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	29545945		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21220347, 31489563		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	30670047		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	17210620, 19029519, 23472874, 32846140, 34114604	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30481588		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21857923, 22528366, 22736029, 23220480, 24075941, 26979073, 27423549, 28119604, 28445933, 29357897, 29434188		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	15541309, 17914064, 19176810, 19680143, 19822953, 20197701, 20729864, 21712955, 22899650, 24403142, 25118928, 25175602, 27341347, 27939437, 29859640, 30039155, 30635421, 31405128, 32486414, 33057020, 34586830, 36362122, 37330543	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	15541309, 16250030, 17017534, 17914064, 18353371		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	15541309, 15542004, 16250030, 16865326, 17017534, 17151837, 17639429, 17914064, 18214993, 18353371, 19072560, 19822953, 21712955, 22988863, 24165324, 24355527, 27341347, 27628070, 28202666, 29408508, 29482628, 29562525, 30044400, 30619483, 30645642, 31584139		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	30573413		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	36837510	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Mucinous Adenocarcinoma	Ovarian adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	37788370	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	22138691		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	LHGDN	11891824, 15541308, 15680455, 15680456, 15680457, 15732108, 15880653, 15884041, 15929036, 15955578, 16001413, 16102903, 16115731, 16149095, 16172858, 16247070, 16269541, 16272257, 16275903, 16333314, 16352719, 16436782, 16437559, 16467219, 16511860, 16622859, 16750377, 16750929, 16966498, 16966501, 16966502, 16991141, 17019612, 17050822, 17060595, 17160203, 17179858, 17222106, 17222580, 17225181, 17235449, 17253937, 17314670, 17377919, 17388990, 17469194, 17470139, 17614198, 17659642, 17706965, 17804834, 17880562, 17938369, 17960808, 17971075, 17999435, 18097165, 18197194, 18214993, 18322396, 18338801, 18435766, 18464276, 18484993, 18539534, 18602856, 18781329, 18923807, 18981379, 19021752, 19065525		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson Disease	Parkinson disease	BEFREE	15541308, 15680455, 15680456, 15680457, 15726496, 15732106, 15852371, 15880653, 15925109, 15955578, 15955629, 16003110, 16102903, 16102999, 16115731, 16149095, 16157901, 16157908, 16157909, 16172858, 16175160, 16240353, 16243488, 16247070, 16250030, 16254973, 16269443, 16269541, 16272164, 16321986, 16333314, 16352719, 16406842, 16437584, 16467219, 16532471, 16533959, 16533964, 16600664, 16614029, 16616379, 16622854, 16622859, 16632201, 16633828, 16643318, 16671078, 16717248, 16728648, 16750377, 16750929, 16781064, 16817197, 16939701, 16960813, 16966501, 16966502, 16966681, 16980962, 16991141, 17017529, 17017533, 17019612, 17020475, 17052850, 17064949, 17078063, 17083102, 17097110, 17114044, 17115391, 17116211, 17149721, 17149743, 17179858, 17200152, 17210620, 17215492, 17216639, 17222580, 17225181, 17235449, 17253937, 17314670, 17341485, 17385668, 17388981, 17388990, 17394548, 17395370, 17427941, 17433753, 17442267, 17447891, 17469194, 17482357, 17512502, 17521740, 17523199, 17540608, 17563248, 17563249, 17584768, 17596714, 17611037, 17614198, 17614947, 17620882, 17622782, 17623048, 17625107, 17659642, 17680806, 17720280, 17761553, 17804834, 17868389, 17880562, 17881276, 17914064, 17914726, 17938369, 17960808, 17978862, 17999435, 18045143, 18093566, 18097165, 18097693, 18098275, 18197194, 18201193, 18201824, 18211709, 18213618, 18214993, 18230735, 18265005, 18267241, 18267242, 18279377, 18316234, 18322385, 18337586, 18338801, 18353371, 18358451, 18412265, 18434642, 18435766, 18442138, 18445495, 18450497, 18484993, 18523722, 18523869, 18539534, 18539535, 18544747, 18602856, 18617409, 18621566, 18665323, 18704525, 18716801, 18718805, 18752982, 18781329, 18804399, 18809839, 18923807, 18927607, 18973807, 18980856, 18986508, 18986509, 19006185, 19020907, 19021752, 19025767, 19029519, 19041274, 19072560, 19156451, 19168133, 19172321, 19271991, 19283415, 19297401, 19302196, 19303005, 19308469, 19330201, 19343804, 19353692, 19357115, 19405094, 19409223, 19412725, 19422283, 19458969, 19472409, 19473361, 19489756, 19503083, 19535993, 19570025, 19625296, 19640773, 19640926, 19672984, 19692353, 19699188, 19726410, 19733152, 19735093, 19740074, 19740488, 19756366, 19800393, 19804413, 19804414, 19804415, 19804416, 19822953, 19824698, 19826009, 19833102, 19854095, 19878656, 19879329, 19912990, 19915575, 19915576, 19943343, 19945510, 19945904, 20001906, 20004703, 20008657, 20018409, 20064381, 20067578, 20096956, 20127702, 20144646, 20173332, 20177695, 20186690, 20187245, 20187256, 20197411, 20197701, 20232069, 20382224, 20413974, 20421364, 20421934, 20423607, 20443975, 20457952, 20483373, 20506312, 20544233, 20547124, 20595391, 20621541, 20629711, 20642453, 20659021, 20669299, 20669305, 20673920, 20697102, 20720502, 20721910, 20721913, 20721916, 20727385, 20729864, 20795948, 20818610, 20881132, 20933457, 20938043, 20939808, 21088684, 21115957, 21167764, 21238487, 21268244, 21280089, 21290151, 21306901, 21312285, 21362567, 21378983, 21406209, 21412835, 21430363, 21454543, 21483109, 21494637, 21511009, 21538529, 21538530, 21552986, 21611978, 21611983, 21632271, 21639795, 21641266, 21641848, 21658387, 21661047, 21676337, 21679126, 21696411, 21698001, 21699405, 21704337, 21712955, 21749573, 21753163, 21768216, 21796139, 21812418, 21812969, 21816655, 21829596, 21838679, 21857923, 21866175, 21885347, 21898123, 21924942, 21946334, 21954089, 21960214, 21961647, 21972245, 21989859, 22004453, 22013209, 22023810, 22031823, 22038903, 22056842, 22077787, 22080837, 22108336, 22154298, 22162019, 22166428, 22166430, 22166452, 22166457, 22194196, 22230652, 22232350, 22251894, 22315971, 22323743, 22335897, 22342821, 22342962, 22357653, 22361010, 22363216, 22393539, 22415848, 22418733, 22441981, 22451330, 22486164, 22508279, 22528366, 22538490, 22575062, 22575234, 22578536, 22594666, 22612223, 22634372, 22668778, 22669510, 22684232, 22689969, 22703868, 22723946, 22736029, 22807999, 22842796, 22848108, 22860184, 22863203, 22914834, 22924508, 22927178, 22952710, 22988862, 22988865, 22988866, 22988867, 22988868, 22988873, 22988874, 22988875, 22988877, 22988878, 22988879, 22988880, 23055502, 23062841, 23075850, 23082216, 23115130, 23124679, 23125283, 23126385, 23127617, 23182315, 23183827, 23220480, 23227859, 23241358, 23241745, 23268655, 23300640, 23318290, 23325906, 23340200, 23357204, 23379419, 23395371, 23396536, 23421816, 23462481, 23472874, 23529190, 23560750, 23600457, 23624603, 23682122, 23726462, 23729298, 23747310, 23764467, 23765085, 23798000, 23813973, 23816973, 23820587, 23913756, 23924436, 23932063, 23935950, 23937259, 23938341, 23938344, 23962496, 23963289, 23963789, 23967090, 24046064, 24046356, 24064060, 24075941, 24080176, 24095219, 24113872, 24123150, 24148854, 24211199, 24241507, 24243757, 24251413, 24262182, 24262189, 24269915, 24339985, 24351927, 24355527, 24357540, 24360742, 24398085, 24403142, 24470158, 24482120, 24496098, 24510904, 24559644, 24565865, 24576675, 24591621, 24631561, 24648008, 24652679, 24655756, 24695735, 24729340, 24758914, 24777780, 24794857, 24816003, 24863040, 24863511, 24895406, 24903616, 24907399, 24918198, 24927544, 24973808, 24993787, 24997548, 25000966, 25017139, 25027012, 25107341, 25127457, 25127731, 25174650, 25201882, 25243190, 25251388, 25316291, 25330404, 25353650, 25391693, 25401511, 25401981, 25416817, 25434972, 25448543, 25450953, 25475535, 25487881, 25540317, 25562633, 25623333, 25637461, 25650144, 25724482, 25731749, 25732803, 25786808, 25804954, 25830304, 25840672, 25854701, 25888648, 25899316, 25915084, 25926623, 25952684, 25962553, 26008812, 26009181, 26011561, 26062626, 26078453, 26101198, 26117366, 26123485, 26169695, 26177462, 26192625, 26234753, 26251043, 26253449, 26268594, 26274610, 26306001, 26311745, 26346174, 26365310, 26366513, 26375402, 26382237, 26403521, 26468079, 26517051, 26526034, 26546614, 26633009, 26651604, 26675812, 26686514, 26687033, 26738859, 26740081, 26744328, 26744332, 26811536, 26865512, 26899799, 26917005, 26930193, 26931464, 26965688, 26979073, 27041685, 27090875, 27091104, 27093107, 27094865, 27111571, 27133195, 27220776, 27260835, 27265751, 27378696, 27384489, 27401793, 27412389, 27423549, 27449028, 27521182, 27613114, 27613618, 27618216, 27628070, 27640816, 27653520, 27692902, 27699718, 27709685, 27723254, 27731364, 27734136, 27777137, 27794539, 27798112, 27812003, 27814993, 27839916, 27859866, 27863501, 27890708, 27911006, 27913668, 27913669, 27913671, 27913672, 27914807, 27975167, 28011712, 28028237, 28071824, 28090684, 28096185, 28098219, 28102045, 28103901, 28115417, 28117607, 28119604, 28120865, 28131193, 28158614, 28186666, 28202664, 28202665, 28202666, 28202668, 28202669, 28202670, 28202674, 28202680, 28202711, 28220571, 28222538, 28223019, 28235153, 28282269, 28289968, 28292328, 28320779, 28336296, 28370517, 28395802, 28395803, 28395804, 28395805, 28406934, 28408230, 28420983, 28443359, 28445933, 28453723, 28458632, 28482024, 28508149, 28541025, 28576705, 28588547, 28647363, 28656686, 28688273, 28697798, 28710481, 28720718, 28723952, 28751472, 28764903, 28774425, 28802631, 28802919, 28819229, 28848400, 28864907, 28888991, 28893563, 28918051, 28941828, 28958936, 28973420, 28973664, 28991672, 29023112, 29029963, 29038245, 29044096, 29054882, 29056298, 29124790, 29125462, 29127255, 29127256, 29127874, 29129681, 29159192, 29177506, 29212815, 29223392, 29241837, 29241968, 29246723, 29248340, 29249679, 29253086, 29268033, 29305429, 29305532, 29307545, 29308544, 29309488, 29311810, 29321020, 29325612, 29357897, 29369408, 29369793, 29376098, 29385885, 29386392, 29387348, 29402177, 29414410, 29414418, 29429047, 29434188, 29456132, 29456161, 29473513, 29473656, 29480219, 29480226, 29482628, 29499195, 29511451, 29513666, 29519959, 29545743, 29550548, 29562525, 29563162, 29567424, 29588215, 29593234, 29627023, 29665080, 29680709, 29700116, 29705653, 29705795, 29719501, 29719505, 29735704, 29760073, 29789389, 29791783, 29800472, 29812962, 29846835, 29855356, 29875204, 29884186, 29891719, 29894291, 29903014, 29907646, 29908325, 29917075, 29946508, 29971685, 29977190, 29989150, 29993254, 30022868, 30032424, 30039155, 30045977, 30046008, 30048714, 30048803, 30049590, 30055128, 30071902, 30090975, 30091236, 30125297, 30133089, 30146349, 30150626, 30172844, 30185553, 30209220, 30223621, 30245141, 30248062, 30249796, 30269383, 30291536, 30340792, 30398148, 30411383, 30420654, 30448284, 30452424, 30467120, 30467121, 30481588, 30507963, 30514770, 30522953, 30536063, 30538153, 30562929, 30571694, 30573413, 30578345, 30592011, 30592623, 30595548, 30597143, 30597610, 30609797, 30640902, 30645642, 30656775, 30670570, 30709905, 30712480, 30720180, 30740124, 30761591, 30793410, 30796162, 30799274, 30808409, 30837320, 30844370, 30858560, 30872638, 30890692, 30915830, 30927072, 30945962, 30954703, 30974176, 30983487, 31022302, 31029016, 31041581, 31046837, 31085228, 31085616, 31102768, 31124140, 31129265, 31138985, 31148170, 31161537, 31164863, 31174552, 31175000, 31211166, 31217489, 31234232, 31261377, 31287913, 31292011, 31292254, 31308240, 31330122, 31348549, 31365783, 31373835, 31383252, 31385687, 31396143, 31443765, 31444591, 31485304, 31487119, 31493133, 31495079, 31505070, 31505072, 31517532, 31527116, 31544231, 31551675, 31551736, 31554740, 31560168, 31605779, 31618685, 31621607, 31624137, 31631040, 31663853, 31680121, 31693760, 31698024, 31731184, 31733655, 31743443, 31761667, 31769472, 31773362, 31790336, 31804465, 31812666, 31813991, 31813996, 31821596, 31824408, 31825616		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson Disease	Parkinson disease	Pubtator	15541309, 15726496, 16269541, 16272257, 16352719, 16467219, 16614029, 16960813, 17021400, 17187665, 17210620, 17230458, 17409193, 17614198, 17846883, 17914064, 17971075, 18182054, 18211709, 18322396, 18337586, 18358451, 18539534, 18675914, 18752982, 18804399, 18986508, 18986509, 19006185, 19027715, 19029519, 19176810, 19211293, 19308469, 19343804, 19489756, 19527940, 19625296, 19640926, 19680143, 19733152, 19822953, 19826009, 19847307, 19915575, 19945510, 20008657, 20074637, 20090955, 20127702, 20144646, 20182943, 20197701, 20386743, 20515039, 20626563, 20669299, 20669305, 20697102, 20721910, 20729864, 20818610, 20837857, 21221623, 21312285, 21370995, 21378983, 21454543, 21476119, 21483109, 21511009, 21611978, 21632271, 21661047, 21712955, 21738687, 21753159, 21753163, 21799870, 21812969, 21816655, 21885347, 21960214, 21961647, 22019052, 22031823, 22154298, 22170881, 22194196, 22363216, 22407749, 22415848, 22612223, 22623900, 22666358, 22689969, 22764206, 22773119, 22786590, 22848108, 22899650, 22914360, 22914834, 22952710, 23062841, 23075850, 23115130, 23379419, 23394771, 23421816, 23472874, 23651603, 23747310, 23771111, 23913756, 23935950, 23938256, 23938344, 23962496, 23963789, 23967090, 24040382, 24148854, 24211199, 24218364, 24241507, 24243757, 24251413, 24339985, 24403142, 24479685, 24488318, 24496098, 24510904, 24591621, 24729340, 24777780, 24816003, 24849765, 24863511, 24942733, 24947832, 24973808, 25118928, 25127731, 25174650, 25243190, 25330404, 25401511, 25401981, 25416817, 25434972, 25446991, 25478574, 25540317, 25650144, 25761573, 25809001, 25952684, 26062626, 26117366, 26177462, 26245297, 26268663, 26274610, 26310572, 26346174, 26366513, 26396237, 26399642, 26516212, 26522888, 26600626, 26633009, 26651604, 26685774, 26831335, 26889637, 26899799, 27004687, 27023913, 27094865, 27111571, 27115692, 27191603, 27220776, 27299523, 27357661, 27393345, 27423549, 27430880, 27521182, 27613114, 27653520, 27699718, 27709685, 27814993, 27832104, 27859866, 27863501, 27939437, 27975167, 28090684, 28096185, 28124432, 28320779, 28336296, 28383562, 28406934, 28453723, 28586827, 28598236, 28639421, 28656686, 28679601, 28683740, 28723952, 28867149, 29044096, 29127874, 29131875, 29166931, 29177506, 29253086, 29309488, 29321258, 29357897, 29369793, 29414410, 29480219, 29513666, 29568677, 29593234, 29603409, 29627023, 29735704, 29884186, 29946508, 30039155, 30045977, 30055128, 30125297, 30223621, 30248062, 30333048, 30485545, 30507963, 30592623, 30595548, 30629163, 30635421, 30639209, 30645642, 30709905, 30793410, 30796162, 30799274, 30861027, 30915830, 30945962, 30982740, 31085228, 31211166, 31217489, 31234232, 31261377, 31308240, 31324919, 31337434, 31348549, 31405128, 31422003, 31444591, 31487119, 31505070, 31505072, 31544231, 31621607, 31631040, 31660654, 31678032, 31680121, 31731184, 31733655, 31804465, 31813991, 31958187, 32073681, 32123243, 32180132, 32227113, 32244201, 32305865, 32310186, 32318850, 32339904, 32348865, 32359446, 32375873, 32461697, 32486414, 32518334, 32568109, 32585840, 32601174, 32652692, 32662532, 32719233, 32722212, 32783917, 32792423, 32794657, 32800998, 32814344, 32846140, 32870915, 32879386, 32931768, 32941707, 32999056, 33057020, 33057100, 33122450, 33142859, 33181472, 33314351, 33341150, 33349842, 33454605, 33470460, 33481347, 33483550, 33492247, 33527742, 33539026, 33640967, 33672296, 33682725, 33707392, 33771108, 33781610, 33802862, 33818904, 33836114, 33857832, 33881531, 33918221, 33938021, 33960523, 33998549, 34033775, 34076298, 34087985, 34114604, 34125248, 34148545, 34313548, 34328508, 34464855, 34550621, 34551822, 34577121, 34674795, 34696975, 34717775, 34744053, 34745571, 34756665, 34929286, 35044538, 35049090, 35053314, 35077669, 35192607, 35266954, 35289213, 35326469, 35421781, 35466950, 35482760, 35551349, 35644844, 35657605, 35708213, 35802825, 35805938, 35895835, 35929078, 35934920, 35950872, 35995594, 36040231, 36054306, 36054380, 36116551, 36174040, 36179692, 36208866, 36302757, 36510024, 36528012, 36692014, 36716346, 36764356, 36879366, 36972292, 37043829, 37059509, 37108456, 37133994, 37177855, 37286171, 37301871, 37339976, 37348876, 37371062, 37406134, 37441884, 37445652, 37461169, 37487100, 37586882, 37629650, 37698513, 37832355, 37837096, 37844218, 37857821, 37947628, 38039358, 38092815, 38127736, 38175148, 38219303, 38254936, 38266062, 38287861, 38614108, 38640169, 39571299, 39684585, 39705401, 39957192, 39957202, 39973498, 40119771, 40244042, 40294793, 40363838, 40397198, 40488901, 40545679, 40617169	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson Disease	Parkinson disease	CTD_human_DG	17388990, 19915575, 19915576, 20205471, 22043175, 23017109, 23472874, 23628791, 25149416, 25475535, 25631236		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson Disease	Parkinson disease	GWASDB_DG	21292315, 21738487, 22438815, 22451204, 24842889		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson Disease	Parkinson disease	GWASCAT_DG	21292315, 21738487, 22438815, 25064009, 27182965, 28892059		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson Disease	Parkinson disease	Pubtator	27297049, 29263232, 35173238	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	BEFREE	19473361		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	CTD_human_DG	23046578, 25017139, 26558463		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 8 (disorder)	Parkinson disease	GENOMICS_ENGLAND_DG	15541308, 28395802, 28395804		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 8 (disorder)	Parkinson disease	UNIPROT_DG	15541308, 15541309, 15680455, 15680456, 15680457, 15726496, 15732108, 15811454, 15852371, 15880653, 15925109, 15929036, 16102999, 16157901, 16157908, 16157909, 16172858, 16240353, 16247070, 16250030, 16251215, 16269541, 16272164, 16272257, 16298482, 16321986, 16333314, 16533964, 17114044, 18213618, 21850687, 22956510, 23395371, 25201882, 26824392, 28202711, 28720718, 29125462, 29127255, 29212815, 30398148, 30635421		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 8 (disorder)	Parkinson disease	CLINVAR_DG	15541309, 15680455, 15726496, 16750377, 18986508, 21494637, 21538529, 21658387, 22575234, 23241745, 24565865, 26251043, 27111571		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 8 (disorder)	Parkinson disease	BEFREE	16254973, 18809839, 23924436		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 8 (disorder)	Parkinson disease	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	15541309, 15726496, 17914064, 18337586, 18650931, 18675914, 18804399, 18952485, 20127702, 20144646, 20669305, 23628791, 23938256, 24816003, 24842889, 24973808, 25008396, 25401511, 26310572, 27613114, 27975167, 28131822, 28336296, 30333048, 31660902, 32719233, 33918221, 34551822, 35934920, 37301871	Associate	★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	16247070, 16269541, 16272164, 16272257, 16298482, 16602113, 16622854, 17050822, 17052850, 17064949, 17200152, 17324517, 17523199, 17720280, 18097165, 18197194, 19027715, 19545277, 19684592, 19804413, 20018409, 20067578, 20096956, 20371768, 21454543, 21476119, 22038903, 22302802, 22437494, 22689969, 22703868, 22806825, 22988874, 23065705, 23764467, 24251413, 24788225, 24903616, 24927544, 25330404, 25830304, 26177462, 26253449, 26310572, 27699718, 27832104, 28096185, 28370517, 28395802, 28395803, 28395804, 28395805, 28568905, 29166931, 29537215, 29603409, 29800472, 30067506, 30119933, 30249796, 30288804, 30595548, 30837321, 30872638, 31348549, 31621607		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	CLINVAR_DG	27111571		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinsonian Disorders	Parkinson Disease	LHGDN	14691730, 15541309, 16781064, 16822348, 18353371, 18379513, 18809839		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson disease	Pubtator	14691730, 15541309, 15726496, 16352719, 18952485, 20144646, 20182943, 21885347, 22194196, 22623900, 22773119, 36054306, 39705401	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	BEFREE	15541309, 15726496, 15852371, 15880653, 16087219, 16172858, 16254973, 16272164, 16406842, 16437559, 16437584, 16489609, 16632201, 16643318, 16781064, 16822348, 16865326, 16966501, 17017533, 17017534, 17060589, 17080443, 17151837, 17222580, 17230458, 17388990, 17427941, 17512502, 17540608, 17582365, 17611037, 17620882, 17622782, 17761553, 17914064, 18098275, 18337586, 18353371, 18787878, 18804399, 18952485, 19072560, 19741132, 19756366, 19915576, 20082991, 20144646, 20177695, 20187256, 20421934, 20457952, 20621541, 20669305, 20818658, 20933457, 21511009, 21885347, 21924942, 22038903, 22539006, 22658533, 23124679, 23250886, 23507417, 23664753, 23938256, 24355527, 24559644, 24816003, 25391693, 26008812, 26177462, 26251043, 26536050, 26931464, 27613114, 27692902, 27777137, 28041945, 28336296, 29124790, 29248340, 29268033, 31129265, 31664682, 31813996		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	CTD_human_DG	23046578, 25017139, 26558463		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonism, Juvenile	Parkinsonian disease	CTD_human_DG	23046578, 25017139, 26558463		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	17639429		★☆☆☆☆ Found in Text Mining only
PNEUMOTHORAX, PRIMARY SPONTANEOUS	Pneumothorax	BEFREE	19538213		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	16087219, 16632201, 17151837, 19740488, 22013209, 22194196, 23963289, 25127457, 25650144, 25840672, 28720718, 28802919, 29038245, 30324423		★☆☆☆☆ Found in Text Mining only
Primary Dysautonomias	Dysautonomia	Pubtator	33918221	Associate	★☆☆☆☆ Found in Text Mining only
Primary Progressive Aphasia (disorder)	Aphasia	BEFREE	17914064		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	LHGDN	16102903, 17060595		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	16409550, 16602113, 19538213, 27709685, 30324423		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	GWASCAT_DG	26301688, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Psychotic Disorders	Psychosis	BEFREE	30573413		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychotic disorders	Pubtator	33918221	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	36072642	Associate	★☆☆☆☆ Found in Text Mining only
Ramsay Hunt Paralysis Syndrome	Ramsay Hunt Paralysis Syndrome	CTD_human_DG	23046578, 25017139, 26558463		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	23227859		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rufous oculocutaneous albinism	Rufous oculocutaneous albinism	Pubtator	39705401	Associate	★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	22138691		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	24631561		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	31178673	Associate	★☆☆☆☆ Found in Text Mining only
Secondary Parkinson Disease	Parkinson disease	BEFREE	31660902		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	31554740		★☆☆☆☆ Found in Text Mining only
Skin Diseases Vesiculobullous	Skin disease	Pubtator	20386743	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	29568677, 31348549	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	26177462	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	BEFREE	24355527, 25330404, 26177462		★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	33880365	Associate	★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	30549039		★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	30760287	Associate	★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	15541309, 20197701, 27709685, 33341150, 35842134	Associate	★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	19142648, 21787314, 22166428, 24113872, 27709685, 29088368		★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	21220347, 36465624	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	21220347, 31180559		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31180559		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	31180559	Stimulate	★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	20008657, 21753163, 27111571, 36528012	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	26301688, 26974007		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Visceral myopathy familial external ophthalmoplegia	Visceral neuropathy	Pubtator	33057100	Associate	★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	16758483, 17050822, 17222580, 18523722, 18704525, 18973254, 20008657, 20182943, 22956510, 24018986		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Young-onset Parkinson disease	Parkinson disease	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Related Genes

Sort by: Blended Diseases Pathways Evidence source

ATG16L1 6 shared diseasesAutoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency, Juvenile idiopathic arthritis, Sclerosing cholangitis 8 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Autoimmune disease), GWAS catalog (Autoimmune thyroid disease), GWAS catalog (Celiac disease), GWAS catalog (Common variable immunodeficiency), Disgenet (Crohn disease), GWAS catalog (Juvenile idiopathic arthritis), GWAS catalog (Sclerosing cholangitis) Related via 6 shared diseases including Autoimmune disease, Autoimmune thyroid disease — evidence mostly GWAS catalog. GPR35 6 shared diseasesAutoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency, Juvenile idiopathic arthritis, Sclerosing cholangitis 7 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Autoimmune disease), GWAS catalog (Autoimmune thyroid disease), GWAS catalog (Celiac disease), GWAS catalog (Common variable immunodeficiency), GWAS catalog (Juvenile idiopathic arthritis), GWAS catalog (Sclerosing cholangitis) Related via 6 shared diseases including Autoimmune disease, Autoimmune thyroid disease — evidence mostly GWAS catalog. NKD1 6 shared diseasesAutoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency, Juvenile idiopathic arthritis, Sclerosing cholangitis 7 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Autoimmune disease), GWAS catalog (Autoimmune thyroid disease), GWAS catalog (Celiac disease), GWAS catalog (Common variable immunodeficiency), GWAS catalog (Juvenile idiopathic arthritis), GWAS catalog (Sclerosing cholangitis) Related via 6 shared diseases including Autoimmune disease, Autoimmune thyroid disease — evidence mostly GWAS catalog. ERAP2 6 shared diseasesAutoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency, Juvenile idiopathic arthritis, Sclerosing cholangitis 7 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Autoimmune disease), GWAS catalog (Autoimmune thyroid disease), GWAS catalog (Celiac disease), GWAS catalog (Common variable immunodeficiency), GWAS catalog (Juvenile idiopathic arthritis), GWAS catalog (Sclerosing cholangitis) Related via 6 shared diseases including Autoimmune disease, Autoimmune thyroid disease — evidence mostly GWAS catalog. TNFSF15 7 shared diseasesAutoimmune disease, Autoimmune thyroid disease, Celiac disease, Common variable immunodeficiency, Juvenile idiopathic arthritis, Psychiatric disorders, Sclerosing cholangitis 8 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Autoimmune disease), GWAS catalog (Autoimmune thyroid disease), GWAS catalog (Celiac disease), GWAS catalog (Common variable immunodeficiency), Disgenet (Crohn disease), GWAS catalog (Juvenile idiopathic arthritis), GWAS catalog (Sclerosing cholangitis) Related via 7 shared diseases including Autoimmune disease, Autoimmune thyroid disease — evidence mostly GWAS catalog.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ATG16L1	6	["Autoimmune disease","Autoimmune thyroid disease","Celiac disease","Common variable immunodeficiency","Juvenile idiopathic arthritis","Sclerosing cholangitis"]	0	[]	8	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Autoimmune disease)","GWAS catalog (Autoimmune thyroid disease)","GWAS catalog (Celiac disease)","GWAS catalog (Common variable immunodeficiency)","Disgenet (Crohn disease)","GWAS catalog (Juvenile idiopathic arthritis)","GWAS catalog (Sclerosing cholangitis)"]
GPR35	6	["Autoimmune disease","Autoimmune thyroid disease","Celiac disease","Common variable immunodeficiency","Juvenile idiopathic arthritis","Sclerosing cholangitis"]	0	[]	7	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Autoimmune disease)","GWAS catalog (Autoimmune thyroid disease)","GWAS catalog (Celiac disease)","GWAS catalog (Common variable immunodeficiency)","GWAS catalog (Juvenile idiopathic arthritis)","GWAS catalog (Sclerosing cholangitis)"]
NKD1	6	["Autoimmune disease","Autoimmune thyroid disease","Celiac disease","Common variable immunodeficiency","Juvenile idiopathic arthritis","Sclerosing cholangitis"]	0	[]	7	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Autoimmune disease)","GWAS catalog (Autoimmune thyroid disease)","GWAS catalog (Celiac disease)","GWAS catalog (Common variable immunodeficiency)","GWAS catalog (Juvenile idiopathic arthritis)","GWAS catalog (Sclerosing cholangitis)"]
ERAP2	6	["Autoimmune disease","Autoimmune thyroid disease","Celiac disease","Common variable immunodeficiency","Juvenile idiopathic arthritis","Sclerosing cholangitis"]	0	[]	7	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Autoimmune disease)","GWAS catalog (Autoimmune thyroid disease)","GWAS catalog (Celiac disease)","GWAS catalog (Common variable immunodeficiency)","GWAS catalog (Juvenile idiopathic arthritis)","GWAS catalog (Sclerosing cholangitis)"]
TNFSF15	7	["Autoimmune disease","Autoimmune thyroid disease","Celiac disease","Common variable immunodeficiency","Juvenile idiopathic arthritis","Psychiatric disorders","Sclerosing cholangitis"]	0	[]	8	["GWAS catalog (Ankylosing spondylitis)","GWAS catalog (Autoimmune disease)","GWAS catalog (Autoimmune thyroid disease)","GWAS catalog (Celiac disease)","GWAS catalog (Common variable immunodeficiency)","Disgenet (Crohn disease)","GWAS catalog (Juvenile idiopathic arthritis)","GWAS catalog (Sclerosing cholangitis)"]

Diseases Linked via Similar Genes

Rheumatoid arthritis Linked via 2 of 5 related genesATG16L1, NKD1 Diabetes mellitus type 2 Linked via 1 of 5 related genesATG16L1 Bipolar disorder Linked via 1 of 5 related genesGPR35 Autoimmune thrombocytopenic purpura Linked via 1 of 5 related genesNKD1 Breast cancer Linked via 1 of 5 related genesNKD1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Rheumatoid arthritis	2	["ATG16L1","NKD1"]
Diabetes mellitus type 2	1	["ATG16L1"]
Bipolar disorder	1	["GPR35"]
Autoimmune thrombocytopenic purpura	1	["NKD1"]
Breast cancer	1	["NKD1"]