PINK1 (PTEN induced kinase 1)

Gene

• Entrez ID: 65018
• Gene name: PTEN induced kinase 1
• Gene symbol: PINK1
• Synonyms: BRPK, PARK6
• 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. [

SNPs

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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000287	Function	Magnesium ion binding	IDA	14607334
GO:0000422	Process	Autophagy of mitochondrion	IBA	21873635
GO:0000422	Process	Autophagy of mitochondrion	IMP	20798600, 23933751, 24896179
GO:0000785	Component	Chromatin	IDA	24798695
GO:0001934	Process	Positive regulation of protein phosphorylation	IDA	25244949
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	IBA	21873635
GO:0004672	Function	Protein kinase activity	IMP	25527497, 32047033
GO:0004674	Function	Protein serine/threonine kinase activity	IBA	21873635
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	14607334, 17579517, 19880420, 24784582, 25527291
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, 20153330, 21177249, 22078885, 23933751, 24357652, 24475098, 25814554, 31536960, 32814053
GO:0005524	Function	ATP binding	IDA	14607334
GO:0005634	Component	Nucleus	IDA	24798695
GO:0005737	Component	Cytoplasm	IDA	16702191
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	15087508, 15824318, 16702191, 18957282, 19229105, 20798600, 21138942, 22354088, 23933751, 31536960
GO:0005739	Component	Mitochondrion	IGI	21355049
GO:0005739	Component	Mitochondrion	IMP	24184327
GO:0005741	Component	Mitochondrial outer membrane	IDA	21426348
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:0005758	Component	Mitochondrial intermembrane space	IDA	17579517, 21426348
GO:0005758	Component	Mitochondrial intermembrane space	TAS
GO:0005783	Component	Endoplasmic reticulum	IDA	31536960
GO:0005829	Component	Cytosol	IDA	18957282, 19229105, 19880420, 20798600, 21138942, 21426348, 24798695
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IDA	24798695
GO:0006468	Process	Protein phosphorylation	IBA	21873635
GO:0006468	Process	Protein phosphorylation	IDA	14607334, 21177249, 25527291
GO:0006468	Process	Protein phosphorylation	IMP	18957282, 25527497
GO:0006468	Process	Protein phosphorylation	TAS	24522549
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	TAS	24522549
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	ISS	24475098
GO:0010821	Process	Regulation of mitochondrion organization	IMP	21508222
GO:0010857	Function	Calcium-dependent protein kinase activity	IDA	19880420
GO:0010952	Process	Positive regulation of peptidase activity	TAS	24522549
GO:0016020	Component	Membrane	IDA	24798695
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	NAS	21563316
GO:0016504	Function	Peptidase activator activity	TAS	24522549
GO:0016567	Process	Protein ubiquitination	IMP	23933751
GO:0018105	Process	Peptidyl-serine phosphorylation	IDA	17579517, 19880420
GO:0018105	Process	Peptidyl-serine phosphorylation	ISS
GO:0018105	Process	Peptidyl-serine phosphorylation	TAS	23626584
GO:0022904	Process	Respiratory electron transport chain	IEA
GO:0030424	Component	Axon	IDA	16702191
GO:0030426	Component	Growth cone	IEA
GO:0031307	Component	Integral component of mitochondrial outer membrane	IDA	18687899
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	IPI	20798600
GO:0032148	Process	Activation of protein kinase B activity	IC	21177249
GO:0032226	Process	Positive regulation of synaptic transmission, dopaminergic	IEA
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IDA	21177249
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IMP	24660806
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	TAS	18221368
GO:0033603	Process	Positive regulation of dopamine secretion	IEA
GO:0034599	Process	Cellular response to oxidative stress	IMP	22764206
GO:0035307	Process	Positive regulation of protein dephosphorylation	IEA
GO:0035556	Process	Intracellular signal transduction	IDA	14607334
GO:0036289	Process	Peptidyl-serine autophosphorylation	IMP	25527497
GO:0036289	Process	Peptidyl-serine autophosphorylation	TAS	23626584
GO:0038203	Process	TORC2 signaling	IC	21177249
GO:0042981	Process	Regulation of apoptotic process	IBA	21873635
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	19880420
GO:0043254	Process	Regulation of protein-containing complex assembly	IDA	19880420
GO:0043422	Function	Protein kinase B binding	IDA	21177249
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:0046329	Process	Negative regulation of JNK cascade	TAS	18221368
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	16702191
GO:0050821	Process	Protein stabilization	IMP	19229105
GO:0051091	Process	Positive regulation of DNA-binding transcription factor activity	IEA
GO:0051443	Process	Positive regulation of ubiquitin-protein transferase activity	TAS	24522549
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 protein kinase B signaling	IC	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	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	21873635
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	TAS	18221368
GO:0097413	Component	Lewy body	TAS	24522549
GO:0097449	Component	Astrocyte projection	IDA	16702191
GO:0098779	Process	Positive regulation of mitophagy in response to mitochondrial depolarization	IMP	20871098
GO:0099074	Process	Mitochondrion to lysosome transport	IMP	24446486
GO:0106310	Function	Protein serine kinase activity	IEA
GO:0106311	Function	Protein threonine kinase activity	IEA
GO:1900407	Process	Regulation of cellular response to oxidative stress	IMP	24446486
GO:1901727	Process	Positive regulation of histone deacetylase activity	IEA
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	TAS	21138942
GO:1903146	Process	Regulation of autophagy of mitochondrion	TAS	21563316
GO:1903147	Process	Negative regulation of autophagy of mitochondrion	IMP	19279012
GO:1903202	Process	Negative regulation of oxidative stress-induced cell death	IDA	16632486
GO:1903204	Process	Negative regulation of oxidative stress-induced neuron death	TAS	24522549
GO:1903214	Process	Regulation of protein targeting to mitochondrion	IDA	25244949
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: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:1904783	Process	Positive regulation of NMDA glutamate receptor activity	IEA
GO:1904841	Function	TORC2 complex binding	IPI	21177249
GO:1904881	Process	Cellular response to hydrogen sulfide	IEA
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

Other IDs

• MIM: 608309
• HGNC: 14581
• e!Ensembl: ENSG00000158828

Protein

• UniProt ID: 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

• Sequence:

  MAVRQALGRGLQLGRALLLRFTGKPGRAYGLGRPGPAAGCVRGERPGWAAGPGAEPRRVG
  LGLPNRLRFFRQSVAGLAARLQRQFVVRAWGCAGPCGRAVFLAFGLGLGLIEEKQAESRR
  AVSACQEIQAIFTQKSKPGPDPLDTRRLQGFRLEEYLIGQSIGKGCSAAVYEATMPTLPQ
  NLEVTKSTGLLPGRGPGTSAPGEGQERAPGAPAFPLAIKMMWNISAGSSSEAILNTMSQE
  LVPASRVALAGEYGAVTYRKSKRGPKQLAPHPNIIRVLRAFTSSVPLLPGALVDYPDVLP
  SRLHPEGLGHGRTLFLVMKNYPCTLRQYLCVNTPSPRLAAMMLLQLLEGVDHLVQQGIAH
  RDLKSDNILVELDPDGCPWLVIADFGCCLADESIGLQLPFSSWYVDRGGNGCLMAPEVST
  ARPGPRAVIDYSKADAWAVGAIAYEIFGLVNPFYGQGKAHLESRSYQEAQLPALPESVPP
  DVRQLVRALLQREASKRPSARVAANVLHLSLWGEHILALKNLKLDKMVGWLLQQSAATLL
  ANRLTEKCCVETKMKMLFLANLECETLCQAALLLCSWRAAL

• Sequence length: 581

Pathways

KEGG:

Mitophagy - animal
Parkinson disease
Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases

Reactome:

Pink/Parkin Mediated Mitophagy

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Dysautonomia	Dysautonomia	rs111033171, rs137853022, rs28939712, rs754348901, rs749052963, rs1057517169, rs1057516865, rs763445509, rs767527819, rs781333644, rs1239081703, rs1554696574, rs539544212, rs1201626345, rs774890086, rs1554703061, rs1554703613, rs1319053366, rs1554703851, rs868073099, rs926177767, rs376078668, rs1554695299, rs1554696648, rs1554696934, rs1554699327, rs1554691572, rs1554695846, rs1554697001, rs770668926, rs1554698037, rs759412460, rs1554702142, rs765572951, rs1554702880, rs1554703831, rs760774999, rs1554696650, rs757972943, rs1554703874, rs1554703907, rs571348995
Glioblastoma	Glioblastoma Multiforme	rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888
Neuroblastoma	Neuroblastoma	rs121908161, rs113994087, rs113994089, rs281864719, rs863225285, rs863225284, rs863225283, rs281864720, rs863225282, rs863225281, rs1057519698, rs915983602, rs1469271544	23334666
Parkinson disease	Parkinsonian Disorders, Autosomal Dominant Juvenile Parkinson Disease, PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE, Parkinson Disease, Parkinson Disease 6, Autosomal Recessive Early-Onset, Young-onset Parkinson disease	rs116074753, rs118203903, rs118203904, rs115735611, rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs74315361, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121917767, rs121918104, rs1589451049, rs104893877, rs104893878, rs283413, rs112176450, rs111290936, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, rs387906942, rs397514694, rs398122403, rs398122404, rs398122405, rs104886460, rs409652, rs431905511, rs63751392, rs756677845, rs864309527, rs864309650, rs750014782, rs1554391082, rs864622011, rs869312810, rs869312809, rs869312811, rs369100678, rs879253853, rs869320761, rs747506979, rs879255630, rs886039854, rs191486604, rs781442277, rs1060499619, rs751037529, rs55777503, rs768091663, rs34208370, rs1553122929, rs772786691, rs754809877, rs1555907463, rs1557561340, rs781600849, rs141263564, rs1557901552, rs777160388, rs756783990, rs867929413, rs1237637353, rs1005937012, rs755000580, rs747427602, rs1578089802, rs771586218, rs748142049, rs1582953433, rs746646126, rs771529549, rs121918106	11254447, 26558463, 15349871, 24441527, 24792327, 23046578, 15349871, 24792327, 26558463, 11254447, 23046578, 24441527, 11254447, 26558463, 15349871, 24441527, 23046578, 24792327, 21366594, 22043175, 17010972, 24374061, 25149416, 15349870, 16401616, 18524835, 17579517, 16632486, 17960343, 16009891, 22043288, 22956510, 23303188, 16207217, 27003823, 17030667, 18785233, 15824318, 24652937, 21996382, 15349860, 20558144, 20798600, 15087508, 21421046, 16482571, 15970950, 19229105, 15505171, 16966503, 15596610, 16207731, 17055324, 24475098, 16257123, 15955953, 18286320, 24784582, 18359116
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	25354644, 18261714, 18546294

Unknown
Disease name	Disease term	dbSNP ID	References
Abnormal male sexual function	Abnormal male sexual function
Anxiety disorder	Anxiety
Dementia	Dementia
Dementia of frontal lobe	Dementia of frontal lobe type
Dyskinetic syndrome	Dyskinetic syndrome
Female sexual dysfunction	Female sexual dysfunction
Gastroparesis	Gastroparesis
Hallucinations	Hallucinations
Male sexual dysfunction	Male sexual dysfunction
Mental depression	Depressive disorder, Unipolar Depression, Major Depressive Disorder	rs587778876, rs587778877	18261714
Panic disorder	Panic Attacks
Parkinsonian disease	Autosomal Dominant Parkinsonism, Autosomal Recessive Parkinsonism, Familial Juvenile Parkinsonism, Parkinsonism, Juvenile		11254447, 24792327, 15349871, 24441527, 23046578, 26558463, 15349871, 26558463, 11254447, 24792327, 23046578, 24441527, 24441527, 24792327, 23046578, 11254447, 26558463, 15349871, 24792327, 15349871, 24441527, 11254447, 26558463, 23046578
Ramsay hunt paralysis syndrome	Ramsay Hunt Paralysis Syndrome		24441527, 11254447, 23046578, 24792327, 15349871, 26558463
Restless legs syndrome	Restless Legs Syndrome
Social communication disorder	Social Communication Disorder