PRKN (parkin RBR E3 ubiquitin protein ligase)

Gene

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

SNPs

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

miRNA

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

Transcription factors

Transcription factor	Regulation	Reference
SIM2	Unknown	15963499

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	23985028
GO:0000151	Component	Ubiquitin ligase complex	IBA	21873635
GO:0000151	Component	Ubiquitin ligase complex	IDA	12150907, 17314283, 23933751
GO:0000209	Process	Protein polyubiquitination	IBA	21873635
GO:0000209	Process	Protein polyubiquitination	IDA	12150907, 16227987, 18541373, 19880420
GO:0000209	Process	Protein polyubiquitination	IMP	32047033
GO:0000266	Process	Mitochondrial fission	ISS
GO:0000422	Process	Autophagy of mitochondrion	IBA	21873635
GO:0000422	Process	Autophagy of mitochondrion	IDA	25621951
GO:0000422	Process	Autophagy of mitochondrion	IMP	19029340, 23933751, 24896179
GO:0000423	Process	Mitophagy	IDA	28017329
GO:0001664	Function	G protein-coupled receptor binding	IPI	12150907
GO:0001933	Process	Negative regulation of protein phosphorylation	IBA	21873635
GO:0001933	Process	Negative regulation of protein phosphorylation	IDA	17512523
GO:0001964	Process	Startle response	IEA
GO:0003714	Function	Transcription corepressor activity	IDA	23985028
GO:0003779	Function	Actin binding	IPI	21753002
GO:0004842	Function	Ubiquitin-protein transferase activity	IDA	11078524, 15728840, 17097639, 18541373, 20889974, 21376232, 24784582, 24896179
GO:0004842	Function	Ubiquitin-protein transferase activity	TAS
GO:0005515	Function	Protein binding	IPI	10888878, 11078524, 11439185, 11590439, 12364339, 12628165, 12925569, 14532270, 15603737, 15728840, 16096643, 16189514, 16332688, 16352719, 17097639, 19036992, 19060904, 19146857, 19229105, 19725078, 19966284, 20153330, 20889486, 20889974, 21376232, 21753002, 22078885, 22082830, 229
GO:0005634	Component	Nucleus	IDA	23985028
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005737	Component	Cytoplasm	IDA	17512523, 19591802, 21376232, 23858059, 23985028, 25244949
GO:0005739	Component	Mitochondrion	IDA	18957282, 19229105, 20889974, 23933751, 25244949
GO:0005739	Component	Mitochondrion	IMP	19029340
GO:0005739	Component	Mitochondrion	IMP	21508222
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	12150907
GO:0005794	Component	Golgi apparatus	IBA	21873635
GO:0005794	Component	Golgi apparatus	IDA	17097639
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA	19029340, 19229105, 19880420, 20889974, 21753002, 23933751
GO:0005829	Component	Cytosol	IMP	21508222
GO:0005829	Component	Cytosol	TAS
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IC	21376232
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IDA	12925569, 17097639
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	NAS	12628165
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	TAS	10888878
GO:0006513	Process	Protein monoubiquitination	IDA	20889974
GO:0006513	Process	Protein monoubiquitination	IMP	24660806, 32047033
GO:0006979	Process	Response to oxidative stress	ISS
GO:0007005	Process	Mitochondrion organization	ISS
GO:0007417	Process	Central nervous system development	TAS	9560156
GO:0007612	Process	Learning	IEA
GO:0008013	Function	Beta-catenin binding	IDA	19591802
GO:0008270	Function	Zinc ion binding	TAS	23626584
GO:0008344	Process	Adult locomotory behavior	ISS
GO:0010498	Process	Proteasomal protein catabolic process	IMP	19725078
GO:0010506	Process	Regulation of autophagy	IDA	20889974
GO:0010628	Process	Positive regulation of gene expression	IMP	19725078
GO:0010629	Process	Negative regulation of gene expression	IMP	19725078, 22314364
GO:0010636	Process	Positive regulation of mitochondrial fusion	IMP	23453807
GO:0010637	Process	Negative regulation of mitochondrial fusion	ISS
GO:0010821	Process	Regulation of mitochondrion organization	IBA	21873635
GO:0010821	Process	Regulation of mitochondrion organization	IDA	21113145
GO:0010821	Process	Regulation of mitochondrion organization	IGI	19279012
GO:0010821	Process	Regulation of mitochondrion organization	NAS	20890124
GO:0010906	Process	Regulation of glucose metabolic process	TAS	23626584
GO:0010994	Process	Free ubiquitin chain polymerization	IMP	24660806
GO:0014059	Process	Regulation of dopamine secretion	TAS	21563316
GO:0015631	Function	Tubulin binding	IPI	21753002
GO:0016235	Component	Aggresome	IDA	14645198
GO:0016236	Process	Macroautophagy	TAS
GO:0016567	Process	Protein ubiquitination	IDA	10973942, 11439185, 12628165, 17314283
GO:0016567	Process	Protein ubiquitination	IMP	23933751, 26911690, 29311685
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016607	Component	Nuclear speck	IDA
GO:0017124	Function	SH3 domain binding	TAS	23626584
GO:0019005	Component	SCF ubiquitin ligase complex	IDA	12628165
GO:0019899	Function	Enzyme binding	IPI	19725078
GO:0019900	Function	Kinase binding	IPI	17512523, 19229105, 19880420, 24187134
GO:0019901	Function	Protein kinase binding	IPI	20798600
GO:0030165	Function	PDZ domain binding	IPI	17512523
GO:0030544	Function	Hsp70 protein binding	IPI	12150907, 21753002
GO:0031072	Function	Heat shock protein binding	IPI	12150907
GO:0031396	Process	Regulation of protein ubiquitination	IGI	23212910
GO:0031396	Process	Regulation of protein ubiquitination	IMP	20871098
GO:0031624	Function	Ubiquitin conjugating enzyme binding	IBA	21873635
GO:0031624	Function	Ubiquitin conjugating enzyme binding	IDA	10973942
GO:0031624	Function	Ubiquitin conjugating enzyme binding	IPI	11439185, 12628165
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	12150907, 21532592, 23453807
GO:0031647	Process	Regulation of protein stability	IMP	26911690
GO:0031648	Process	Protein destabilization	IDA	19591802, 29311685
GO:0032092	Process	Positive regulation of protein binding	IMP	26911690
GO:0032232	Process	Negative regulation of actin filament bundle assembly	IDA	17512523
GO:0032368	Process	Regulation of lipid transport	TAS	23626584
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IBA	21873635
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	TAS	24115276
GO:0033132	Process	Negative regulation of glucokinase activity	IDA	24187134
GO:0034620	Process	Cellular response to unfolded protein	TAS	18221368
GO:0034976	Process	Response to endoplasmic reticulum stress	IMP	21113145
GO:0035249	Process	Synaptic transmission, glutamatergic	IEA
GO:0035519	Process	Protein K29-linked ubiquitination	TAS	23626584
GO:0036503	Process	ERAD pathway	NAS	10973942
GO:0042053	Process	Regulation of dopamine metabolic process	IMP	22314364
GO:0042415	Process	Norepinephrine metabolic process	IEA
GO:0042417	Process	Dopamine metabolic process	TAS	23626584
GO:0042802	Function	Identical protein binding	IPI	21694720
GO:0042826	Function	Histone deacetylase binding	IPI	21753002
GO:0042981	Process	Regulation of apoptotic process	IBA	21873635
GO:0043005	Component	Neuron projection	IDA	12925569
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IDA	17314283, 19880420
GO:0043123	Process	Positive regulation of I-kappaB kinase/NF-kappaB signaling	IMP	23453807
GO:0043130	Function	Ubiquitin binding	IDA	24784582
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	11439185, 21376232
GO:0043274	Function	Phospholipase binding	IPI	19725078
GO:0043388	Process	Positive regulation of DNA binding	IDA	17314283
GO:0043524	Process	Negative regulation of neuron apoptotic process	IDA	12628165, 22511790, 23985028
GO:0044257	Process	Cellular protein catabolic process	IMP	21376232
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0044314	Process	Protein K27-linked ubiquitination	TAS	20098416, 23626584
GO:0044828	Process	Negative regulation by host of viral genome replication	IDA	25244949
GO:0044877	Function	Protein-containing complex binding	IPI	23453807
GO:0045732	Process	Positive regulation of protein catabolic process	TAS	22988876
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23453807
GO:0046329	Process	Negative regulation of JNK cascade	ISS
GO:0046676	Process	Negative regulation of insulin secretion	IDA	24187134
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17097639
GO:0050821	Process	Protein stabilization	IMP	19229105
GO:0051087	Function	Chaperone binding	IPI	15603737, 19725078, 21753002
GO:0051582	Process	Positive regulation of neurotransmitter uptake	IMP	22314364
GO:0051583	Process	Dopamine uptake involved in synaptic transmission	IEA
GO:0051865	Process	Protein autoubiquitination	IDA	12628165, 15728840, 16352719, 17512523
GO:0051881	Process	Regulation of mitochondrial membrane potential	IEA
GO:0055069	Process	Zinc ion homeostasis	ISS
GO:0060548	Process	Negative regulation of cell death	IDA	15603737
GO:0060828	Process	Regulation of canonical Wnt signaling pathway	TAS	24115276
GO:0061630	Function	Ubiquitin protein ligase activity	IBA	21873635
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	10973942, 11439185, 12150907, 12628165, 12925569, 16227987, 19229105, 19880420, 20823226, 21376232, 23858059, 25621951
GO:0061630	Function	Ubiquitin protein ligase activity	IMP	32047033
GO:0061630	Function	Ubiquitin protein ligase activity	NAS	10973942, 18221368
GO:0061630	Function	Ubiquitin protein ligase activity	TAS
GO:0061734	Process	Parkin-mediated stimulation of mitophagy in response to mitochondrial depolarization	IDA	19029340
GO:0070050	Process	Neuron cellular homeostasis	ISS
GO:0070534	Process	Protein K63-linked ubiquitination	IDA	15728840, 17314283, 19880420, 25621951
GO:0070534	Process	Protein K63-linked ubiquitination	NAS	20890124
GO:0070534	Process	Protein K63-linked ubiquitination	TAS	18221368
GO:0070585	Process	Protein localization to mitochondrion	IEA
GO:0070842	Process	Aggresome assembly	IMP	14645198
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	21376232, 23858059
GO:0070979	Process	Protein K11-linked ubiquitination	IDA	25621951
GO:0071287	Process	Cellular response to manganese ion	TAS	23628791
GO:0085020	Process	Protein K6-linked ubiquitination	IDA	25621951
GO:0085020	Process	Protein K6-linked ubiquitination	TAS	23626584
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	19591802
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	TAS	22988876
GO:0090141	Process	Positive regulation of mitochondrial fission	ISS
GO:0090201	Process	Negative regulation of release of cytochrome c from mitochondria	IDA	19880420, 23453807
GO:0097237	Process	Cellular response to toxic substance	IMP	12628165
GO:0097413	Component	Lewy body	TAS	24522549
GO:0097602	Function	Cullin family protein binding	IDA	12628165
GO:0098779	Process	Positive regulation of mitophagy in response to mitochondrial depolarization	IDA	20457763
GO:0098779	Process	Positive regulation of mitophagy in response to mitochondrial depolarization	IMP	20871098, 23212910
GO:0098793	Component	Presynapse	IEA
GO:0099073	Component	Mitochondrion-derived vesicle	IDA	24446486
GO:0099074	Process	Mitochondrion to lysosome transport	IDA	24446486
GO:1900407	Process	Regulation of cellular response to oxidative stress	IBA	21873635
GO:1900407	Process	Regulation of cellular response to oxidative stress	IDA	24446486
GO:1900407	Process	Regulation of cellular response to oxidative stress	IMP	22314364
GO:1900407	Process	Regulation of cellular response to oxidative stress	ISS
GO:1901215	Process	Negative regulation of neuron death	IGI	21376232
GO:1901800	Process	Positive regulation of proteasomal protein catabolic process	IGI	23858059
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IDA	11439185, 12150907, 23453807
GO:1902236	Process	Negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway	IMP	10973942, 21113145
GO:1902254	Process	Negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator	IMP	23985028
GO:1902283	Process	Negative regulation of primary amine oxidase activity	IMP	22314364
GO:1902530	Process	Positive regulation of protein linear polyubiquitination	IGI	23453807
GO:1902803	Process	Regulation of synaptic vesicle transport	NAS	21563316
GO:1903202	Process	Negative regulation of oxidative stress-induced cell death	NAS	24522549
GO:1903202	Process	Negative regulation of oxidative stress-induced cell death	TAS	24252804
GO:1903214	Process	Regulation of protein targeting to mitochondrion	NAS	20890124
GO:1903265	Process	Positive regulation of tumor necrosis factor-mediated signaling pathway	IDA	23453807
GO:1903351	Process	Cellular response to dopamine	TAS	23626584
GO:1903377	Process	Negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway	IDA	17314283
GO:1903382	Process	Negative regulation of endoplasmic reticulum stress-induced neuron intrinsic apoptotic signaling pathway	IEA
GO:1903542	Process	Negative regulation of exosomal secretion	IMP	26911690
GO:1903599	Process	Positive regulation of autophagy of mitochondrion	IDA	26310625
GO:1903861	Process	Positive regulation of dendrite extension	IEA
GO:1904049	Process	Negative regulation of spontaneous neurotransmitter secretion	IMP	22314364
GO:1905281	Process	Positive regulation of retrograde transport, endosome to Golgi	NAS	26911690
GO:1905366	Process	Negative regulation of intralumenal vesicle formation	IMP	26911690
GO:1905477	Process	Positive regulation of protein localization to membrane	IC	26911690
GO:1905477	Process	Positive regulation of protein localization to membrane	IMP	26911690
GO:1990381	Function	Ubiquitin-specific protease binding	IPI	24063750
GO:1990444	Function	F-box domain binding	IPI	12628165
GO:1990452	Component	Parkin-FBXW7-Cul1 ubiquitin ligase complex	IPI	12628165
GO:2000377	Process	Regulation of reactive oxygen species metabolic process	IMP	18541373
GO:2000378	Process	Negative regulation of reactive oxygen species metabolic process	IGI	18541373

Other IDs

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

Protein

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

  Pfam

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

• Sequence:

  MIVFVRFNSSHGFPVEVDSDTSIFQLKEVVAKRQGVPADQLRVIFAGKELRNDWTVQNCD
  LDQQSIVHIVQRPWRKGQEMNATGGDDPRNAAGGCEREPQSLTRVDLSSSVLPGDSVGLA
  VILHTDSRKDSPPAGSPAGRSIYNSFYVYCKGPCQRVQPGKLRVQCSTCRQATLTLTQGP
  SCWDDVLIPNRMSGECQSPHCPGTSAEFFFKCGAHPTSDKETSVALHLIATNSRNITCIT
  CTDVRSPVLVFQCNSRHVICLDCFHLYCVTRLNDRQFVHDPQLGYSLPCVAGCPNSLIKE
  LHHFRILGEEQYNRYQQYGAEECVLQMGGVLCPRPGCGAGLLPEPDQRKVTCEGGNGLGC
  GFAFCRECKEAYHEGECSAVFEASGTTTQAYRVDERAAEQARWEAASKETIKKTTKPCPR
  CHVPVEKNGGCMHMKCPQPQCRLEWCWNCGCEWNRVCMGDHWFDV

• Sequence length: 465

Pathways

KEGG:

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

Reactome:

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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Autism	Autistic Disorder	rs121964908, rs121912597, rs2710102, rs7794745, rs142990298, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542, rs1751123722, rs1750373491, rs1751075634	19404257
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs10520699, rs11852999, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	19946270
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
Dysgerminoma	Dysgerminoma	rs121913506, rs80357888
Glioblastoma	Glioblastoma, Glioblastoma Multiforme	rs121913500, rs886042842, rs1555138291, rs1558518449, rs1567176006, rs1558650888	19946270
Lung adenocarcinoma	Bronchioloalveolar Adenocarcinoma	rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382
Lung cancer	Malignant neoplasm of lung	rs121913530, rs121913529, rs878855122, rs1057519784, rs770315135	25640678, 19946270
Lung carcinoma	Carcinoma of lung	rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193
Ovarian cancer	Malignant neoplasm of ovary	rs34424986, rs137853060, rs28934575, rs79658334, rs121913021, rs62625308, rs80356898, rs80357579, rs41293497, rs80356904, rs80357471, rs80357522, rs80357234, rs80357912, rs80357828, rs80357208, rs55770810, rs80358165, rs80358010, rs587780226, rs536907995, rs139414606, rs371638537, rs574552037, rs730881647, rs747993448, rs786202125, rs786202962, rs121913321, rs189261858, rs869320800, rs753023295, rs779466229, rs752411477, rs80357438, rs191486604, rs760874290, rs752780954, rs760782298, rs1555591361, rs1555578360, rs1555588460, rs1555587401, rs747427602, rs112675807, rs80357393
Ovarian papillary adenocarcinoma	Ovarian papillary adenocarcinoma	rs80357729, rs1593882341
Parkinson disease	Parkinsonian Disorders, Parkinson Disease, Secondary Vascular, Autosomal Dominant Juvenile Parkinson Disease, PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE, Young onset Parkinson disease, Parkinson Disease, PARKINSON DISEASE, LATE-ONSET, Young-onset Parkinson disease, Secondary 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	25640678, 10072423, 10894217, 23046578, 16914382, 26558463, 12764051, 11254447, 15993444, 12764051, 11254447, 10072423, 26558463, 23046578, 10894217, 25640678, 16914382, 19205068, 17095157, 23751051, 19801972, 9560156, 12764051, 15090472, 12112109, 20798600, 25815004, 19229105, 10939576, 16914382, 21996382, 10072423, 26188007, 12114481, 12629236, 19636047, 11254447, 12764050, 20604804, 25939424, 22777964, 16049031, 12397156, 25640678, 11431533, 12116199, 15390068, 27534820, 11590439, 16476817, 20404107, 18486522, 25877876, 10894217, 18973255, 10888878, 27206984, 20558392, 15584030, 24167364, 10824074, 15970950, 26631732, 15606901, 24647965, 26274610, 16769863, 11558785, 11179010, 17766365, 17360614, 12925569, 22956510, 23046578, 18211709, 16643317, 23770917, 21694720, 16227559, 23818421, 20889486, 12056932, 23275044, 16339143, 20889974, 25907632, 26558463, 21376232, 21348451, 9731209, 18519021, 26683220, 11163284, 14519684, 24831986, 11487568, 12891670, 11971093, 12362318, 12730996, 25939424, 16049031, 26836416, 19801972, 27182553, 22555654, 25815004, 15390068, 14519684, 10072423, 12891670, 25591737, 25907632, 23531835, 19636047, 26855076, 19162522, 27294386, 15198987, 22841634, 15882845, 12588799, 23628791, 25631236, 22043175, 28284907, 19946270, 24582596, 16573651, 25149416, 17010972, 19966284, 12629236, 29311685, 12730996
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	27846195
Vesicoureteral reflux	Vesico-Ureteral Reflux	rs587777684, rs148731211	29097723

Unknown
Disease name	Disease term	dbSNP ID	References
Abnormal male sexual function	Abnormal male sexual function
Anxiety disorder	Anxiety
Atherosclerotic parkinsonism	Atherosclerotic Parkinsonism		15993444
Corpus luteum cyst	Corpus Luteum Cyst		21239663
Dementia of frontal lobe	Dementia of frontal lobe type
Dyskinetic syndrome	Dyskinetic syndrome
Female sexual dysfunction	Female sexual dysfunction
Gastroparesis	Gastroparesis
Giant cell glioblastoma	Giant Cell Glioblastoma		19946270
Hallucinations	Hallucinations
Intervertebral disc degeneration	Intervertebral Disc Degeneration		22993228
Learning disorders	Learning Disorders, Adult Learning Disorders, Learning Disturbance, Learning Disabilities		12915482
Lung neoplasms	Lung Neoplasms		25640678, 19946270
Male sexual dysfunction	Male sexual dysfunction
Memory disorders	Memory Disorders		12915482
Age-related memory disorders	Age-Related Memory Disorders		12915482
Mental depression	Depressive disorder	rs587778876, rs587778877
Ovarian neoplasm	ovarian neoplasm
Ovarian cysts	Ovarian Cysts		21239663
Panic disorder	Panic Attacks
Parkinsonian disease	Autosomal Dominant Parkinsonism, Autosomal Recessive Parkinsonism, Familial Juvenile Parkinsonism, Parkinsonism, Juvenile		26558463, 25640678, 10072423, 12764051, 16914382, 11254447, 10894217, 23046578, 26558463, 11254447, 10072423, 12764051, 16914382, 25640678, 10894217, 23046578, 12764051, 10072423, 26558463, 10894217, 11254447, 23046578, 16914382, 25640678, 23046578, 22956510, 26558463, 25640678, 10894217, 12764051, 16914382, 11254447, 9560156, 10072423
Ramsay hunt paralysis syndrome	Ramsay Hunt Paralysis Syndrome		25640678, 10894217, 12764051, 23046578, 10072423, 11254447, 16914382, 26558463
Restless legs syndrome	Restless Legs Syndrome
Social communication disorder	Social Communication Disorder