Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	65018
Gene name	PTEN induced kinase 1
Gene symbol	PINK1
Synonyms (NCBI Gene)	BRPKPARK6
Chromosome	1
Chromosome location	1p36.12
Summary	This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive early-onset Parkinson disease. [

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SNP ID	Visualize variation	Clinical significance	Consequence
rs45604240	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs74315357	C>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs74315360	C>A	Pathogenic	Missense variant, coding sequence variant
rs756677845	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs756783990	C>A	Pathogenic	Coding sequence variant, stop gained
rs768091663	G>C	Not-provided, pathogenic	Missense variant, coding sequence variant
rs1557561340	C>-	Pathogenic	Coding sequence variant, frameshift variant

154

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miRTarBase ID	miRNA	Experiments
MIRT1235378	hsa-miR-2116	CLIP-seq
MIRT1235379	hsa-miR-3605-5p	CLIP-seq
MIRT1235380	hsa-miR-4659a-5p	CLIP-seq
MIRT1235381	hsa-miR-4659b-5p	CLIP-seq
MIRT1235382	hsa-miR-4677-5p	CLIP-seq
MIRT1235383	hsa-miR-4716-5p	CLIP-seq
MIRT1235384	hsa-miR-4776-3p	CLIP-seq
MIRT2296341	hsa-miR-1245b-3p	CLIP-seq
MIRT2296342	hsa-miR-198	CLIP-seq
MIRT2296343	hsa-miR-199a-3p	CLIP-seq
MIRT2296344	hsa-miR-199b-3p	CLIP-seq
MIRT2296345	hsa-miR-2467-3p	CLIP-seq
MIRT2296346	hsa-miR-3129-5p	CLIP-seq
MIRT2296347	hsa-miR-3187-3p	CLIP-seq
MIRT2296348	hsa-miR-3942-3p	CLIP-seq
MIRT2296349	hsa-miR-4435	CLIP-seq
MIRT2296350	hsa-miR-4453	CLIP-seq
MIRT2296351	hsa-miR-4529-5p	CLIP-seq
MIRT2296352	hsa-miR-4538	CLIP-seq
MIRT2296353	hsa-miR-4701-5p	CLIP-seq
MIRT2296354	hsa-miR-4760-3p	CLIP-seq
MIRT2296355	hsa-miR-548s	CLIP-seq
MIRT2296356	hsa-miR-588	CLIP-seq
MIRT2296357	hsa-miR-654-3p	CLIP-seq
MIRT2296358	hsa-miR-936	CLIP-seq
MIRT2456518	hsa-miR-1224-3p	CLIP-seq
MIRT2456519	hsa-miR-1229	CLIP-seq
MIRT2456520	hsa-miR-1260	CLIP-seq
MIRT2456521	hsa-miR-1260b	CLIP-seq
MIRT2456522	hsa-miR-1280	CLIP-seq
MIRT2456523	hsa-miR-27a	CLIP-seq
MIRT2456524	hsa-miR-27b	CLIP-seq
MIRT2456525	hsa-miR-513a-5p	CLIP-seq
MIRT2465845	hsa-miR-759	CLIP-seq
MIRT2456518	hsa-miR-1224-3p	CLIP-seq
MIRT2594059	hsa-miR-1238	CLIP-seq
MIRT2594060	hsa-miR-1254	CLIP-seq
MIRT2594061	hsa-miR-1258	CLIP-seq
MIRT2456520	hsa-miR-1260	CLIP-seq
MIRT2456521	hsa-miR-1260b	CLIP-seq
MIRT2456522	hsa-miR-1280	CLIP-seq
MIRT2594062	hsa-miR-1324	CLIP-seq
MIRT2594063	hsa-miR-1825	CLIP-seq
MIRT2594064	hsa-miR-1910	CLIP-seq
MIRT2594065	hsa-miR-1913	CLIP-seq
MIRT2594066	hsa-miR-205	CLIP-seq
MIRT2594067	hsa-miR-2277-3p	CLIP-seq
MIRT2456523	hsa-miR-27a	CLIP-seq
MIRT2456524	hsa-miR-27b	CLIP-seq
MIRT2594068	hsa-miR-28-3p	CLIP-seq
MIRT2594069	hsa-miR-2964a-5p	CLIP-seq
MIRT2594070	hsa-miR-3116	CLIP-seq
MIRT2594071	hsa-miR-3127-3p	CLIP-seq
MIRT2594072	hsa-miR-3152-3p	CLIP-seq
MIRT2594073	hsa-miR-3183	CLIP-seq
MIRT2296347	hsa-miR-3187-3p	CLIP-seq
MIRT2594074	hsa-miR-324-3p	CLIP-seq
MIRT2594075	hsa-miR-346	CLIP-seq
MIRT1235379	hsa-miR-3605-5p	CLIP-seq
MIRT2594076	hsa-miR-3676	CLIP-seq
MIRT2594077	hsa-miR-3688-5p	CLIP-seq
MIRT2594078	hsa-miR-3691-5p	CLIP-seq
MIRT2594079	hsa-miR-4264	CLIP-seq
MIRT2594080	hsa-miR-4278	CLIP-seq
MIRT2594081	hsa-miR-4288	CLIP-seq
MIRT2594082	hsa-miR-4297	CLIP-seq
MIRT2594083	hsa-miR-4312	CLIP-seq
MIRT2594084	hsa-miR-4313	CLIP-seq
MIRT2594085	hsa-miR-4326	CLIP-seq
MIRT2296349	hsa-miR-4435	CLIP-seq
MIRT2296350	hsa-miR-4453	CLIP-seq
MIRT2594086	hsa-miR-4470	CLIP-seq
MIRT2296351	hsa-miR-4529-5p	CLIP-seq
MIRT2296352	hsa-miR-4538	CLIP-seq
MIRT2594087	hsa-miR-455-3p	CLIP-seq
MIRT2594088	hsa-miR-4650-5p	CLIP-seq
MIRT1235380	hsa-miR-4659a-5p	CLIP-seq
MIRT1235381	hsa-miR-4659b-5p	CLIP-seq
MIRT2594089	hsa-miR-4667-3p	CLIP-seq
MIRT2594090	hsa-miR-4676-5p	CLIP-seq
MIRT2594091	hsa-miR-4688	CLIP-seq
MIRT2296353	hsa-miR-4701-5p	CLIP-seq
MIRT1235383	hsa-miR-4716-5p	CLIP-seq
MIRT2594092	hsa-miR-4723-3p	CLIP-seq
MIRT2594093	hsa-miR-4752	CLIP-seq
MIRT2456525	hsa-miR-513a-5p	CLIP-seq
MIRT2594094	hsa-miR-515-3p	CLIP-seq
MIRT2594095	hsa-miR-519e	CLIP-seq
MIRT2296355	hsa-miR-548s	CLIP-seq
MIRT2594096	hsa-miR-575	CLIP-seq
MIRT2296356	hsa-miR-588	CLIP-seq
MIRT2594097	hsa-miR-632	CLIP-seq
MIRT2296357	hsa-miR-654-3p	CLIP-seq
MIRT2456518	hsa-miR-1224-3p	CLIP-seq
MIRT2594059	hsa-miR-1238	CLIP-seq
MIRT2594060	hsa-miR-1254	CLIP-seq
MIRT2594061	hsa-miR-1258	CLIP-seq
MIRT2456520	hsa-miR-1260	CLIP-seq
MIRT2456521	hsa-miR-1260b	CLIP-seq
MIRT2456522	hsa-miR-1280	CLIP-seq
MIRT2594062	hsa-miR-1324	CLIP-seq
MIRT2594063	hsa-miR-1825	CLIP-seq
MIRT2594064	hsa-miR-1910	CLIP-seq
MIRT2594065	hsa-miR-1913	CLIP-seq
MIRT2594066	hsa-miR-205	CLIP-seq
MIRT1235378	hsa-miR-2116	CLIP-seq
MIRT2594067	hsa-miR-2277-3p	CLIP-seq
MIRT2456523	hsa-miR-27a	CLIP-seq
MIRT2456524	hsa-miR-27b	CLIP-seq
MIRT2594068	hsa-miR-28-3p	CLIP-seq
MIRT2594069	hsa-miR-2964a-5p	CLIP-seq
MIRT2594070	hsa-miR-3116	CLIP-seq
MIRT2594071	hsa-miR-3127-3p	CLIP-seq
MIRT2594072	hsa-miR-3152-3p	CLIP-seq
MIRT2594073	hsa-miR-3183	CLIP-seq
MIRT2296347	hsa-miR-3187-3p	CLIP-seq
MIRT2594074	hsa-miR-324-3p	CLIP-seq
MIRT2594075	hsa-miR-346	CLIP-seq
MIRT1235379	hsa-miR-3605-5p	CLIP-seq
MIRT2594076	hsa-miR-3676	CLIP-seq
MIRT2594077	hsa-miR-3688-5p	CLIP-seq
MIRT2594078	hsa-miR-3691-5p	CLIP-seq
MIRT2594079	hsa-miR-4264	CLIP-seq
MIRT2594080	hsa-miR-4278	CLIP-seq
MIRT2594081	hsa-miR-4288	CLIP-seq
MIRT2594082	hsa-miR-4297	CLIP-seq
MIRT2594083	hsa-miR-4312	CLIP-seq
MIRT2594084	hsa-miR-4313	CLIP-seq
MIRT2594085	hsa-miR-4326	CLIP-seq
MIRT2296349	hsa-miR-4435	CLIP-seq
MIRT2296350	hsa-miR-4453	CLIP-seq
MIRT2594086	hsa-miR-4470	CLIP-seq
MIRT2296351	hsa-miR-4529-5p	CLIP-seq
MIRT2296352	hsa-miR-4538	CLIP-seq
MIRT2594087	hsa-miR-455-3p	CLIP-seq
MIRT2594088	hsa-miR-4650-5p	CLIP-seq
MIRT1235380	hsa-miR-4659a-5p	CLIP-seq
MIRT1235381	hsa-miR-4659b-5p	CLIP-seq
MIRT2594089	hsa-miR-4667-3p	CLIP-seq
MIRT2594090	hsa-miR-4676-5p	CLIP-seq
MIRT1235382	hsa-miR-4677-5p	CLIP-seq
MIRT2594091	hsa-miR-4688	CLIP-seq
MIRT2296353	hsa-miR-4701-5p	CLIP-seq
MIRT1235383	hsa-miR-4716-5p	CLIP-seq
MIRT2594092	hsa-miR-4723-3p	CLIP-seq
MIRT2594093	hsa-miR-4752	CLIP-seq
MIRT2456525	hsa-miR-513a-5p	CLIP-seq
MIRT2594094	hsa-miR-515-3p	CLIP-seq
MIRT2594095	hsa-miR-519e	CLIP-seq
MIRT2296355	hsa-miR-548s	CLIP-seq
MIRT2594096	hsa-miR-575	CLIP-seq
MIRT2296356	hsa-miR-588	CLIP-seq
MIRT2594097	hsa-miR-632	CLIP-seq
MIRT2296357	hsa-miR-654-3p	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	14607334
GO:0000287	Function	Magnesium ion binding	IEA
GO:0000422	Process	Autophagy of mitochondrion	IBA
GO:0000422	Process	Autophagy of mitochondrion	IMP	20798600, 23933751, 24896179
GO:0000423	Process	Mitophagy	IDA	38081847
GO:0000423	Process	Mitophagy	IDA	38081847
GO:0000423	Process	Mitophagy	IEA
GO:0000423	Process	Mitophagy	IGI	33406421
GO:0000785	Component	Chromatin	IDA	24798695
GO:0002020	Function	Protease binding	IPI	21138942
GO:0002020	Function	Protease binding	TAS	24522549
GO:0002082	Process	Regulation of oxidative phosphorylation	IDA	20871098
GO:0002931	Process	Response to ischemia	IEA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004672	Function	Protein kinase activity	IMP	25527497, 32047033
GO:0004674	Function	Protein serine/threonine kinase activity	EXP	24751536, 24784582, 25474007
GO:0004674	Function	Protein serine/threonine kinase activity	IBA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	14607334, 17579517, 19880420, 21177249, 24784582, 25527291
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	ISS
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	24522549
GO:0005515	Function	Protein binding	IPI	16632486, 17579517, 19229105, 19966284, 20153330, 21177249, 22078885, 22939624, 23933751, 24357652, 24475098, 25814554, 31536960, 32814053, 33961781, 35391620, 37160114, 38848361
GO:0005524	Function	ATP binding	IDA	14607334
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	24798695
GO:0005737	Component	Cytoplasm	IDA	16702191
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA	23885119
GO:0005739	Component	Mitochondrion	IDA	15087508, 15824318, 16702191, 18957282, 19229105, 20798600, 21138942, 22354088, 23933751, 31536960
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IGI	21355049
GO:0005739	Component	Mitochondrion	IMP	24184327
GO:0005741	Component	Mitochondrial outer membrane	IDA	18687899, 21426348
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005741	Component	Mitochondrial outer membrane	IMP	25527497
GO:0005741	Component	Mitochondrial outer membrane	TAS
GO:0005743	Component	Mitochondrial inner membrane	IDA	17579517, 21426348
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005758	Component	Mitochondrial intermembrane space	IDA	17579517, 21426348
GO:0005758	Component	Mitochondrial intermembrane space	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA	31536960
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	IDA	18957282, 19229105, 19880420, 20798600, 21138942, 21426348, 24798695
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IDA	24798695
GO:0006468	Process	Protein phosphorylation	IDA	14607334, 25527291, 32139798
GO:0006468	Process	Protein phosphorylation	IMP	18957282
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	TAS	24522549
GO:0006914	Process	Autophagy	IEA
GO:0006950	Process	Response to stress	IEA
GO:0006979	Process	Response to oxidative stress	IGI	24475098
GO:0007005	Process	Mitochondrion organization	IMP	18560593
GO:0010310	Process	Regulation of hydrogen peroxide metabolic process	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	ISS	24475098
GO:0010821	Process	Regulation of mitochondrion organization	IMP	21508222
GO:0014046	Process	Dopamine secretion	IEA
GO:0016020	Component	Membrane	IDA	24798695
GO:0016020	Component	Membrane	IEA
GO:0016236	Process	Macroautophagy	TAS
GO:0016239	Process	Positive regulation of macroautophagy	IMP	20871098
GO:0016242	Process	Negative regulation of macroautophagy	IMP	19279012
GO:0016301	Function	Kinase activity	IDA	15824318
GO:0016301	Function	Kinase activity	IEA
GO:0016301	Function	Kinase activity	NAS	21563316
GO:0016504	Function	Peptidase activator activity	TAS	24522549
GO:0016567	Process	Protein ubiquitination	IMP	23933751
GO:0016740	Function	Transferase activity	IEA
GO:0019900	Function	Kinase binding	IPI	21177249
GO:0022904	Process	Respiratory electron transport chain	IEA
GO:0030097	Process	Hemopoiesis	IGI	33406421
GO:0030335	Process	Positive regulation of cell migration	IMP	21177249
GO:0030424	Component	Axon	IDA	16702191
GO:0030426	Component	Growth cone	IEA
GO:0031396	Process	Regulation of protein ubiquitination	IDA	19880420
GO:0031396	Process	Regulation of protein ubiquitination	IMP	20871098, 23212910
GO:0031398	Process	Positive regulation of protein ubiquitination	ISS
GO:0031625	Function	Ubiquitin protein ligase binding	IEA
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	20798600
GO:0032226	Process	Positive regulation of synaptic transmission, dopaminergic	IEA
GO:0033603	Process	Positive regulation of dopamine secretion	IEA
GO:0033605	Process	Positive regulation of catecholamine secretion	IEA
GO:0034599	Process	Cellular response to oxidative stress	IEA
GO:0034599	Process	Cellular response to oxidative stress	IMP	22764206
GO:0034599	Process	Cellular response to oxidative stress	TAS	24522549
GO:0035556	Process	Intracellular signal transduction	IDA	14607334
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0038203	Process	TORC2 signaling	IDA	21177249
GO:0042981	Process	Regulation of apoptotic process	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	19880420
GO:0043254	Process	Regulation of protein-containing complex assembly	IDA	19880420
GO:0043422	Function	Protein kinase B binding	IDA	21177249
GO:0043523	Process	Regulation of neuron apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	IMP	18560593
GO:0044297	Component	Cell body	IDA	16702191
GO:0044877	Function	Protein-containing complex binding	IMP	24270810
GO:0045727	Process	Positive regulation of translation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046329	Process	Negative regulation of JNK cascade	TAS	18221368
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	16702191
GO:0050432	Process	Catecholamine secretion	IEA
GO:0050821	Process	Protein stabilization	IEA
GO:0050821	Process	Protein stabilization	IMP	19229105
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0051881	Process	Regulation of mitochondrial membrane potential	IGI	24475098
GO:0051881	Process	Regulation of mitochondrial membrane potential	IMP	18560593, 21138942
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	21177249
GO:0055131	Function	C3HC4-type RING finger domain binding	IPI	19880420
GO:0061136	Process	Regulation of proteasomal protein catabolic process	NAS	22078885
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0071456	Process	Cellular response to hypoxia	IMP	24553947
GO:0072655	Process	Establishment of protein localization to mitochondrion	IMP	18957282, 25527497
GO:0072656	Process	Maintenance of protein location in mitochondrion	IMP	25527497
GO:0090141	Process	Positive regulation of mitochondrial fission	IBA
GO:0090141	Process	Positive regulation of mitochondrial fission	IEA
GO:0090200	Process	Positive regulation of release of cytochrome c from mitochondria	IMP	19880420
GO:0090258	Process	Negative regulation of mitochondrial fission	IMP	19279012
GO:0097237	Process	Cellular response to toxic substance	IEA
GO:0097237	Process	Cellular response to toxic substance	TAS	18221368
GO:0097413	Component	Lewy body	TAS	24522549
GO:0097449	Component	Astrocyte projection	IDA	16702191
GO:0099074	Process	Mitochondrion to lysosome vesicle-mediated transport	IMP	24446486
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106310	Function	Protein serine kinase activity	IMP	32484300
GO:1900407	Process	Regulation of cellular response to oxidative stress	IMP	24446486
GO:1901525	Process	Negative regulation of mitophagy	IMP	19279012
GO:1902803	Process	Regulation of synaptic vesicle transport	TAS	21563316
GO:1902902	Process	Negative regulation of autophagosome assembly	IMP	19279012
GO:1902958	Process	Positive regulation of mitochondrial electron transport, NADH to ubiquinone	IEA
GO:1902958	Process	Positive regulation of mitochondrial electron transport, NADH to ubiquinone	TAS	21138942
GO:1903146	Process	Regulation of autophagy of mitochondrion	TAS	21563316
GO:1903214	Process	Regulation of protein targeting to mitochondrion	IGI	21508222
GO:1903214	Process	Regulation of protein targeting to mitochondrion	IMP	23212910
GO:1903298	Process	Negative regulation of hypoxia-induced intrinsic apoptotic signaling pathway	IEA
GO:1903377	Process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA	16632486
GO:1903384	Process	Negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway	IDA	21177249
GO:1903384	Process	Negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway	IMP	23261939
GO:1903751	Process	Negative regulation of intrinsic apoptotic signaling pathway in response to hydrogen peroxide	IDA	17579517
GO:1903852	Process	Positive regulation of cristae formation	IMP	19279012
GO:1903955	Process	Positive regulation of protein targeting to mitochondrion	HMP	24270810
GO:1904544	Process	Positive regulation of free ubiquitin chain polymerization	ISS
GO:1904881	Process	Cellular response to hydrogen sulfide	IEA
GO:1905091	Process	Positive regulation of type 2 mitophagy	IMP	20871098
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	IGI	24475098
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	IMP	21138942
GO:2000378	Process	Negative regulation of reactive oxygen species metabolic process	IMP	18560593
GO:2001171	Process	Positive regulation of ATP biosynthetic process	TAS	20871098
GO:2001243	Process	Negative regulation of intrinsic apoptotic signaling pathway	IDA	15087508

MIM	HGNC	e!Ensembl
608309	14581	ENSG00000158828

Q9BXM7

Protein name

Serine/threonine-protein kinase PINK1, mitochondrial (EC 2.7.11.1) (BRPK) (PTEN-induced putative kinase protein 1)

Protein function

Serine/threonine-protein kinase which acts as a sensor of mitochondrial damage and protects against mitochondrial dysfunction during cellular stress. It phosphorylates mitochondrial proteins to coordinate mitochondrial quality control mechanisms

PDB

9EIH , 9EII , 9EIJ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00069	Pkinase	264 → 509	Protein kinase domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in heart, skeletal muscle and testis, and at lower levels in brain, placenta, liver, kidney, pancreas, prostate, ovary and small intestine. Present in the embryonic testis from an early stage of development. {ECO:00002

Sequence

MAVRQALGRGLQLGRALLLRFTGKPGRAYGLGRPGPAAGCVRGERPGWAAGPGAEPRRVG
LGLPNRLRFFRQSVAGLAARLQRQFVVRAWGCAGPCGRAVFLAFGLGLGLIEEKQAESRR
AVSACQEIQAIFTQKSKPGPDPLDTRRLQGFRLEEYLIGQSIGKGCSAAVYEATMPTLPQ
NLEVTKSTGLLPGRGPGTSAPGEGQERAPGAPAFPLAIKMMWNISAGSSSEAILNTMSQE
LVPASRVALAGEYGAVTYRKSKRGPKQLAPHPNIIRVLRAFTSSVPLLPGALVDYPDVLP
SRLHPEGLGHGRTLFLVMKNYPCTLRQYLCVNTPSPRLAAMMLLQLLEGVDHLVQQGIAH
RDLKSDNILVELDPDGCPWLVIADFGCCLADESIGLQLPFSSWYVDRGGNGCLMAPEVST
ARPGPRAVIDYSKADAWAVGAIAYEIFGLVNPFYGQGKAHLESRSYQEAQLPALPESVPP
DVRQLVRALLQREASKRPSARVAANVLHLSLWGEHILALKNLKLDKMVGWLLQQSAATLL
ANRLTEKCCVETKMKMLFLANLECETLCQAALLLCSWRAAL

Sequence length

581

Interactions

View interactions

	KEGG		Reactome
	Mitophagy - animal Parkinson disease Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases		Pink/Parkin Mediated Mitophagy

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)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive early-onset Parkinson disease 6	Pathogenic; Likely pathogenic	rs775479526, rs1480758482, rs2154533643, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs756677845, rs775809722 View all (19 more)	RCV001917853 RCV001960635 RCV001915142 RCV000002505 RCV000002506 View all (29 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1	Pathogenic	rs119451946	RCV000002518	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PINK1-related disorder	Pathogenic; Likely pathogenic	rs775479526, rs45539432, rs2545259625, rs34208370	RCV004741132 RCV004739278 RCV003397247 RCV004740269	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thymoma	Pathogenic	rs34208370	RCV005899800	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COGNITION DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM, DEMENTIA, AMNESTIC, COGNITIVE DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leprosy, susceptibility to, 1	Uncertain risk allele	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Uncertain significance	ClinVar CTD	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Ovarian serous cystadenocarcinoma	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet CTD, ClinGen, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson disease 6	risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson disease, late-onset	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Parkinson Disease, Recessive	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YOUNG ONSET PARKINSON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YOUNG-ONSET PARKINSON DISEASE	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (224)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abnormal male sexual function	Abnormal Male Sexual Function	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	29937472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29937472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Cortex Diseases	Adrenal Cortex Diseases	BEFREE	27843055		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	30770352	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	31441020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Akinesia	Akinesia	BEFREE	28716221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21145388, 26721933, 29091718, 33998543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	21366594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	27324898, 29077793, 29297151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	18759352, 24128678, 26268526, 27794540, 28973175, 30237395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	26365381, 32779864, 36379251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anhedonia	Anhedonia	BEFREE	31542395		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	31542395, 31836946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	31542395, 31836946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	22427796		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	31441020		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29156421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29156421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	29413154	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	30319601		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Juvenile Parkinson Disease	Parkinson Disease	CTD_human_DG	11254447, 15349871, 23046578, 24441527, 24792327, 26558463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	CTD_human_DG	11254447, 15349871, 23046578, 24441527, 24792327, 26558463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	CTD_human_DG	11254447, 15349871, 23046578, 24441527, 24792327, 26558463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	BEFREE	16702191, 17989306, 18175395, 18307263, 18584234, 19351622, 19429112, 21126205, 22057787, 23772688, 25899925, 30274236		★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30890112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal Ganglia Diseases	BEFREE	17766179		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	21145388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	34389795	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	35760846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	24352421		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	40243539	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20971498, 23765085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33888730, 33929971, 35410525	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	31152979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary dysplasia	Pubtator	36261501	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31577952, 37108343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	20971498, 29520253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	37108343	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36430876, 36964576	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29937472, 29966978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	33139776	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37382962, 37689589, 40318378	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	34517553	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30144997, 30349076		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	29156421	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	23772688, 29307080, 31323277, 31654556		★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Ganglioglioma	Ganglioglioma	BEFREE	28803490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	31515286	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	30607007, 30785084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28458526, 30290714, 30759019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	27413743, 27788143	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic neoplasm	Pubtator	37047483	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29970517		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35581181, 36871142, 37037306, 37784019	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	21606348, 29284690, 30416661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cytochrome-c Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	BEFREE	23144451		★★★★★ ★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31684073		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	LHGDN	15955953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	19735092, 20669327, 29947276, 31486971		★★★★★ ★☆☆☆☆ 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	Pubtator	21145388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28992584, 30735759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	17567565, 25260493, 31390235, 31661466, 31730816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17567565, 25260493, 31390235, 31661466, 31730816		★★★★★ ★☆☆☆☆ 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	28505239		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	17567565, 18495756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	17567565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	30832367		★★★★★ ★☆☆☆☆ Found in Text Mining only
DiGeorge Syndrome	DiGeorge Syndrome	BEFREE	29124790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	31332166	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	19815446		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinesia, Drug-Induced	Dyskinesia	BEFREE	19726410		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	28062148		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	25226871	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	20694531, 25643588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	22399432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	34616150	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	33029756	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	37833780	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Juvenile Parkinsonism	Parkinsonian disease	CTD_human_DG	11254447, 15349871, 23046578, 24441527, 24792327, 26558463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	29935106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Female sexual dysfunction	Female sexual dysfunction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	31755616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	18685134	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	BEFREE	31361992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ganglioglioma	Ganglioglioma	BEFREE	28803490		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	29124790		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gaucher Disease, Type 1	Gaucher Disease	BEFREE	30717266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	30595797, 34964241	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	40565152	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	32636217	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	19038850, 37649075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	21606348, 29284690, 30416661		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	30290401		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperoxia	Hyperoxia	Pubtator	36261501	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	32664164	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	BEFREE	20694531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30229848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33496385	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	25562319, 26059457, 29363258, 30759019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	31775876	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23462481, 27413743, 29077793, 29689442, 29710734, 31324919, 31486971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	30380148		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	23772688		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28024839, 29172924, 31229841, 31567378, 31607953		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	BEFREE	27876828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leprosy	Leprosy	Pubtator	27876828	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	25355138, 29947276		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28504722, 31819034		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	31170232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26245297, 29937472	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	35921555	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	18261714		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	18261714		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male sexual dysfunction	Male sexual dysfunction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	23765085		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30209783		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29937472, 29966978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31551778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14607334, 19139432, 22048964, 24681957, 25553463, 27701735, 28259921, 28504722, 29229974, 30274236, 31177901, 31669882		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29229974		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29229974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	27788143	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28992584, 30735759		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	17202228, 18546294, 20483373		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28641777		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	17989306, 19242547, 19270741, 19492085, 21138942, 21139416, 21145388, 21177249, 24088173, 24184327, 24270810, 24446486, 24928900, 25226871, 25284222 View all (25 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	19815446, 26471730	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	20871098, 37649075	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	BEFREE	19210954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	28325755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mosaic variegated aneuploidy syndrome	Mosaic variegated aneuploidy	Pubtator	31515286	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	16769864, 16818890, 29475881, 31779813		★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement disorder	Pubtator	33539026	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	35677537, 37700273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	21145388, 34421896	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	22687462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	35760846	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	35203326	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyp	Pubtator	35747690	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17699801, 24681957, 26354775, 26530043, 28803490, 29966978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	19038850	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	19210954, 22687462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17000703, 19229105, 20045449, 21637291, 24184327, 24671417, 27003823, 28768533, 29321620, 30133157, 30375512		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neuroblastoma	Neuroblastoma	CTD_human_DG	23334666		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Neurodegeneration with brain iron accumulation (NBIA)	Nephropathy with Pretibial Epidermolysis Bullosa and Deafness	BEFREE	20694531		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	16079129, 19966284, 26101826, 28281653, 32779864, 32945555, 33891871, 34586830, 35203326, 36361641, 36379251	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16702191, 17567565, 21331528, 22482450, 23533695, 28914586, 29226533, 29255601, 29563254, 29689442, 30504091, 30889315		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	LHGDN	17567565		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28259921, 29937472, 31669882		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	18495756, 29501495		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	29241732		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	36823640	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31551778		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	36906621	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	12447943, 15087508, 15349859, 15505171, 15525661, 15542245, 15596610, 15785866, 15876334, 16079129, 16175160, 16257123, 16401616, 16482571, 16533959 View all (349 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	15087508, 15349859, 15596610, 15955954, 16482571, 16547921, 16632486, 16700027, 16969854, 17154281, 17172567, 17219214, 17557243, 18272063, 18330912 View all (5 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	16079129, 16354302, 17172567, 17362513, 17412603, 17989306, 18211709, 18330912, 18486522, 18685134, 19038850, 19205068, 19229105, 19242547, 19270741 View all (112 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	17010972, 21366594, 22043175, 24374061, 25149416		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	24800761	Inhibit	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	CTD_human_DG	11254447, 15349871, 23046578, 24441527, 24792327, 26558463		★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	BEFREE	12548371, 20724841, 23251494, 26161729, 26864383, 28806787, 29160309, 29166608, 29494565, 29995846, 31046796, 31229841		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease 6, Autosomal Recessive Early-Onset	Parkinson disease	UNIPROT_DG	15087508, 15349860, 15349870, 15505171, 15596610, 15955953, 15970950, 16009891, 16207217, 16207731, 16257123, 16401616, 16482571, 16632486, 16966503 View all (8 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease 6, Autosomal Recessive Early-Onset	Parkinson disease	GENOMICS_ENGLAND_DG	15349870, 18524835		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease 6, Autosomal Recessive Early-Onset	Parkinson disease	CLINVAR_DG	15349870, 15824318, 16482571, 17055324, 17579517, 17960343, 18359116, 18785233, 20558144, 21996382, 22956510, 23303188		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease 6, Autosomal Recessive Early-Onset	Parkinson disease	BEFREE	17707122, 29166608, 29255601		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease 6, Autosomal Recessive Early-Onset	Parkinson disease	CTD_human_DG	21421046, 24475098, 27003823		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET	Parkinson disease	BEFREE	14707326, 22956510, 27619486		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	16354302, 17172567, 17202228, 18330912, 18685134, 19087301, 19815446, 21145388, 21366594, 25226871, 27302064, 27413743, 28789629, 29229974, 30237140, 30788857, 33029617 View all (2 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	16482571, 17084972, 19684592, 20399249, 20558144, 21925922		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Parkinsonian Disorders	Parkinson Disease	CTD_human_DG	11254447, 15349871, 23046578, 24441527, 24792327, 26558463		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson disease	Pubtator	11254447, 11462174, 17172567, 17989306, 18330912, 18685134, 19087301, 19205068, 19351622, 19492085, 20940149, 22623900, 23251494, 23459931, 24149440 View all (9 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	BEFREE	11462174, 11748730, 12447943, 12548343, 12548371, 15294138, 15349859, 15349860, 15349870, 15349871, 15505170, 15824318, 15955953, 15970950, 16009891 View all (69 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	LHGDN	12548343, 12548371, 15349870, 16009891, 17055324, 17766179, 18286320, 18307263, 18546294, 19048950, 19087301		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonism, Juvenile	Parkinsonian disease	CTD_human_DG	11254447, 15349871, 23046578, 24441527, 24792327, 26558463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonism, Juvenile	Parkinsonian disease	BEFREE	19087301, 28324489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonism-Dystonia, Infantile	Parkinsonism-dystonia	BEFREE	25643588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Patterned dystrophy of retinal pigment epithelium	Patterned macular dystrophy	Pubtator	30012208	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	31748499		★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	19735092, 20669327, 29947276, 31486971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	24088173, 36217332, 38110986	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	30759019		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	25562319, 26059457, 31170232		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ramsay Hunt Paralysis Syndrome	Ramsay Hunt Paralysis Syndrome	CTD_human_DG	11254447, 15349871, 23046578, 24441527, 24792327, 26558463		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	31639106, 31825802		★★★★★ ★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	20971498		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	17202228, 18261714, 18546294, 25354644		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	17202228	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	18261714, 18546294, 25354644		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	18546294		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sepsis	Sepsis	Pubtator	33494815	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28615325, 30789157, 31432108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sleep Deprivation	Sleep deprivation	Pubtator	19492085	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	27597528		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20971498, 29937472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29022200		★★★★★ ★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	29935106		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	40603395	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	30890112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tumors of Adrenal Cortex	Tumors Of Adrenal Cortex	LHGDN	19139432		★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	21242281	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turcot syndrome (disorder)	Turcot syndrome	BEFREE	21242281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	30496979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	18261714		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	18261714		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular System Injuries	Vascular system injury	Pubtator	21145388	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	32664164	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	15596610, 16079129, 16401616, 16482571, 16632486, 16755580, 16769864, 17030667, 17362513, 17766179, 17906618, 17960343, 18068301, 18329316, 18973254 View all (46 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Young-onset Parkinson disease	Parkinson disease	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PINK1 (PTEN induced kinase 1)