DNAJC6 (DnaJ heat shock protein family (Hsp40) member C6)

Gene

• Entrez ID: 9829
• Gene name: DnaJ heat shock protein family (Hsp40) member C6
• Gene symbol: DNAJC6
• Synonyms (NCBI Gene): DJC6, PARK19
• Chromosome: 1
• Chromosome location: 1p31.3
• Summary: DNAJC6 belongs to the evolutionarily conserved DNAJ/HSP40 family of proteins, which regulate molecular chaperone activity by stimulating ATPase activity. DNAJ proteins may have up to 3 distinct domains: a conserved 70-amino acid J domain, usually at the N

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs398122404	A>G	Pathogenic	Splice acceptor variant
rs398122405	C>T	Pathogenic	Coding sequence variant, stop gained
rs864622011	C>T	Pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs879255554	A>T	Pathogenic	Coding sequence variant, synonymous variant
rs879255630	A>G	Pathogenic	Missense variant, coding sequence variant
rs886039854	C>G,T	Pathogenic	Stop gained, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030253	hsa-miR-26b-5p	Microarray	19088304
MIRT052398	hsa-let-7a-5p	CLASH	23622248
MIRT051833	hsa-let-7c-5p	CLASH	23622248
MIRT658964	hsa-miR-6721-5p	HITS-CLIP	23824327
MIRT658963	hsa-miR-486-3p	HITS-CLIP	23824327
MIRT658962	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT658961	hsa-miR-4425	HITS-CLIP	23824327
MIRT658960	hsa-miR-3147	HITS-CLIP	23824327
MIRT658959	hsa-miR-1227-5p	HITS-CLIP	23824327
MIRT658958	hsa-miR-4260	HITS-CLIP	23824327
MIRT658957	hsa-miR-4455	HITS-CLIP	23824327
MIRT658956	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT574878	hsa-miR-1227-5p	HITS-CLIP	27418678
MIRT574879	hsa-miR-3147	HITS-CLIP	27418678
MIRT574877	hsa-miR-4260	HITS-CLIP	27418678
MIRT574880	hsa-miR-4425	HITS-CLIP	27418678
MIRT574876	hsa-miR-4455	HITS-CLIP	27418678
MIRT574882	hsa-miR-486-3p	HITS-CLIP	27418678
MIRT574875	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT574881	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT574883	hsa-miR-6721-5p	HITS-CLIP	23824327
MIRT574882	hsa-miR-486-3p	HITS-CLIP	23824327
MIRT574881	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT574880	hsa-miR-4425	HITS-CLIP	23824327
MIRT574879	hsa-miR-3147	HITS-CLIP	23824327
MIRT574878	hsa-miR-1227-5p	HITS-CLIP	23824327
MIRT574877	hsa-miR-4260	HITS-CLIP	23824327
MIRT574876	hsa-miR-4455	HITS-CLIP	23824327
MIRT574875	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT941757	hsa-miR-1273f	CLIP-seq
MIRT941758	hsa-miR-194	CLIP-seq
MIRT941759	hsa-miR-2114	CLIP-seq
MIRT941760	hsa-miR-223	CLIP-seq
MIRT941761	hsa-miR-23a	CLIP-seq
MIRT941762	hsa-miR-23b	CLIP-seq
MIRT941763	hsa-miR-23c	CLIP-seq
MIRT941764	hsa-miR-3120-3p	CLIP-seq
MIRT941765	hsa-miR-3133	CLIP-seq
MIRT941766	hsa-miR-3146	CLIP-seq
MIRT941767	hsa-miR-3148	CLIP-seq
MIRT941768	hsa-miR-3613-5p	CLIP-seq
MIRT941769	hsa-miR-3688-3p	CLIP-seq
MIRT941770	hsa-miR-4310	CLIP-seq
MIRT941771	hsa-miR-4444	CLIP-seq
MIRT941772	hsa-miR-4511	CLIP-seq
MIRT941773	hsa-miR-4659a-3p	CLIP-seq
MIRT941774	hsa-miR-4659b-3p	CLIP-seq
MIRT941775	hsa-miR-4662a-5p	CLIP-seq
MIRT941776	hsa-miR-4697-3p	CLIP-seq
MIRT941777	hsa-miR-4699-3p	CLIP-seq
MIRT941778	hsa-miR-4803	CLIP-seq
MIRT941779	hsa-miR-494	CLIP-seq
MIRT941780	hsa-miR-548ag	CLIP-seq
MIRT941781	hsa-miR-548ai	CLIP-seq
MIRT941782	hsa-miR-548m	CLIP-seq
MIRT941783	hsa-miR-759	CLIP-seq
MIRT1548003	hsa-miR-1292	CLIP-seq
MIRT1548004	hsa-miR-4471	CLIP-seq
MIRT941775	hsa-miR-4662a-5p	CLIP-seq
MIRT1548005	hsa-miR-541	CLIP-seq
MIRT1548006	hsa-miR-584	CLIP-seq
MIRT1548007	hsa-miR-654-5p	CLIP-seq
MIRT1978778	hsa-miR-2116	CLIP-seq
MIRT941761	hsa-miR-23a	CLIP-seq
MIRT941762	hsa-miR-23b	CLIP-seq
MIRT941763	hsa-miR-23c	CLIP-seq
MIRT1978779	hsa-miR-3654	CLIP-seq
MIRT1978780	hsa-miR-375	CLIP-seq
MIRT1978781	hsa-miR-4273	CLIP-seq
MIRT1978782	hsa-miR-432	CLIP-seq
MIRT1978783	hsa-miR-4677-5p	CLIP-seq
MIRT1978784	hsa-miR-548g	CLIP-seq
MIRT1978785	hsa-miR-548p	CLIP-seq
MIRT1978786	hsa-miR-630	CLIP-seq
MIRT1978787	hsa-miR-876-3p	CLIP-seq
MIRT2213989	hsa-miR-3183	CLIP-seq
MIRT2213990	hsa-miR-3617	CLIP-seq
MIRT2213991	hsa-miR-4326	CLIP-seq
MIRT2213992	hsa-miR-4723-3p	CLIP-seq
MIRT2213993	hsa-miR-579	CLIP-seq
MIRT2213994	hsa-miR-641	CLIP-seq
MIRT2387022	hsa-miR-1184	CLIP-seq
MIRT2387023	hsa-miR-1205	CLIP-seq
MIRT2387024	hsa-miR-3158-5p	CLIP-seq
MIRT2387025	hsa-miR-4527	CLIP-seq
MIRT2448436	hsa-miR-1243	CLIP-seq
MIRT1978779	hsa-miR-3654	CLIP-seq
MIRT2448437	hsa-miR-4653-3p	CLIP-seq
MIRT2448438	hsa-miR-659	CLIP-seq
MIRT2387022	hsa-miR-1184	CLIP-seq
MIRT2387023	hsa-miR-1205	CLIP-seq
MIRT2518265	hsa-miR-1208	CLIP-seq
MIRT2518266	hsa-miR-125a-3p	CLIP-seq
MIRT2518267	hsa-miR-129-5p	CLIP-seq
MIRT2518268	hsa-miR-1301	CLIP-seq
MIRT2518269	hsa-miR-1305	CLIP-seq
MIRT2518270	hsa-miR-1323	CLIP-seq
MIRT2518271	hsa-miR-193a-5p	CLIP-seq
MIRT2518272	hsa-miR-198	CLIP-seq
MIRT2518273	hsa-miR-2052	CLIP-seq
MIRT2518274	hsa-miR-219-5p	CLIP-seq
MIRT2518275	hsa-miR-3064-3p	CLIP-seq
MIRT2518276	hsa-miR-3121-3p	CLIP-seq
MIRT2387024	hsa-miR-3158-5p	CLIP-seq
MIRT2518277	hsa-miR-338-5p	CLIP-seq
MIRT2518278	hsa-miR-345	CLIP-seq
MIRT2518279	hsa-miR-3613-3p	CLIP-seq
MIRT2518280	hsa-miR-3647-3p	CLIP-seq
MIRT2518281	hsa-miR-3662	CLIP-seq
MIRT2518282	hsa-miR-3665	CLIP-seq
MIRT2518283	hsa-miR-374a	CLIP-seq
MIRT2518284	hsa-miR-374b	CLIP-seq
MIRT2518285	hsa-miR-3944-5p	CLIP-seq
MIRT2518286	hsa-miR-4445	CLIP-seq
MIRT2518287	hsa-miR-4461	CLIP-seq
MIRT2518288	hsa-miR-4477a	CLIP-seq
MIRT2518289	hsa-miR-448	CLIP-seq
MIRT2387025	hsa-miR-4527	CLIP-seq
MIRT2518290	hsa-miR-4641	CLIP-seq
MIRT2518291	hsa-miR-4660	CLIP-seq
MIRT2518292	hsa-miR-4679	CLIP-seq
MIRT2518293	hsa-miR-4699-5p	CLIP-seq
MIRT2518294	hsa-miR-4709-3p	CLIP-seq
MIRT2518295	hsa-miR-4782-3p	CLIP-seq
MIRT2518296	hsa-miR-5047	CLIP-seq
MIRT2518297	hsa-miR-508-3p	CLIP-seq
MIRT2518298	hsa-miR-5096	CLIP-seq
MIRT2518299	hsa-miR-511	CLIP-seq
MIRT2518300	hsa-miR-513b	CLIP-seq
MIRT2518301	hsa-miR-518a-5p	CLIP-seq
MIRT2518302	hsa-miR-527	CLIP-seq
MIRT2518303	hsa-miR-548o	CLIP-seq
MIRT2518304	hsa-miR-577	CLIP-seq
MIRT2518305	hsa-miR-603	CLIP-seq
MIRT2518306	hsa-miR-607	CLIP-seq
MIRT2518307	hsa-miR-615-5p	CLIP-seq
MIRT2518308	hsa-miR-656	CLIP-seq
MIRT2518309	hsa-miR-657	CLIP-seq
MIRT2387025	hsa-miR-4527	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004725	Function	Protein tyrosine phosphatase activity	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005829	Component	Cytosol	TAS
GO:0014069	Component	Postsynaptic density	IBA	21873635
GO:0016191	Process	Synaptic vesicle uncoating	IBA	21873635
GO:0016191	Process	Synaptic vesicle uncoating	ISS	20160091
GO:0017124	Function	SH3 domain binding	IEA
GO:0030276	Function	Clathrin binding	IBA	21873635
GO:0031982	Component	Vesicle	IBA	21873635
GO:0035335	Process	Peptidyl-tyrosine dephosphorylation	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0061024	Process	Membrane organization	TAS
GO:0072318	Process	Clathrin coat disassembly	IBA	21873635
GO:0072583	Process	Clathrin-dependent endocytosis	IBA	21873635
GO:0098793	Component	Presynapse	IEA
GO:2000369	Process	Regulation of clathrin-dependent endocytosis	IEA

Other IDs

• MIM: 608375
• HGNC: 15469
• e!Ensembl: ENSG00000116675

Protein

• UniProt ID: O75061
• Protein name: Auxilin (EC 3.1.3.-) (DnaJ homolog subfamily C member 6)
• Protein function: May act as a protein phosphatase and/or a lipid phosphatase. Co-chaperone that recruits HSPA8/HSC70 to clathrin-coated vesicles (CCVs) and promotes the ATP-dependent dissociation of clathrin from CCVs and participates in clathrin-mediated endocy
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10409	PTEN_C2	226 → 365	C2 domain of PTEN tumour-suppressor protein	Domain
  PF00226	DnaJ	852 → 913	DnaJ domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in various brain regions, including cerebellum, corpus callosum, cortex, striatum, brainstem, pons, putamen, spinal cord and substantia nigra. Very low expression in non-neural tissues such as leukocytes, liver, adipose tissu
• Sequence:

  MKDSENKGASSPDMEPSYGGGLFDMVKGGAGRLFSNLKDNLKDTLKDTSSRVIQSVTSYT
  KGDLDFTYVTSRIIVMSFPLDNVDIGFRNQVDDIRSFLDSRHLDHYTVYNLSPKSYRTAK
  FHSRVSECSWPIRQAPSLHNLFAVCRNMYNWLLQNPKNVCVVHCLDGRAASSILVGAMFI
  FCNLYSTPGPAIRLLYAKRPGIGLSPSHRRYLGYMCDLLADKPYRPHFKPLTIKSITVSP
  IPFFNKQRNGCRPYCDVLIGETKIYSTCTDFERMKEYRVQDGKIFIPLNITVQGDVVVSM
  YHLRSTIGSRLQAKVTNTQIFQLQFHTGFIPLDTTVLKFTKPELDACDVPEKYPQLFQVT
  LDVELQPHDKVIDLTPPWEHYCTKDVNPSILFSSHQEHQDTLALGGQAPIDIPPDNPRHY
  GQSGFFASLCWQDQKSEKSFCEEDHAALVNQESEQSDDELLTLSSPHGNANGDKPHGVKK
  PSKKQQEPAAPPPPEDVDLLGLEGSAMSNSFSPPAAPPTNSELLSDLFGGGGAAGPTQAG
  QSGVEDVFHPSGPASTQSTPRRSATSTSASPTLRVGEGATFDPFGAPSKPSGQDLLGSFL
  NTSSASSDPFLQPTRSPSPTVHASSTPAVNIQPDVSGGWDWHAKPGGFGMGSKSAATSPT
  GSSHGTPTHQSKPQTLDPFADLGTLGSSSFASKPTTPTGLGGGFPPLSSPQKASPQPMGG
  GWQQGGAYNWQQPQPKPQPSMPHSSPQNRPNYNVSFSAMPGGQNERGKGSSNLEGKQKAA
  DFEDLLSGQGFNAHKDKKGPRTIAEMRKEEMAKEMDPEKLKILEWIEGKERNIRALLSTM
  HTVLWAGETKWKPVGMADLVTPEQVKKVYRKAVLVVHPDKATGQPYEQYAKMIFMELNDA
  WSEFENQGQKPLY

• Sequence length: 913

Pathways

KEGG:

Endocytosis

Reactome:

Lysosome Vesicle Biogenesis
Golgi Associated Vesicle Biogenesis
Clathrin-mediated endocytosis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Akinesia	Akinesia	rs606231129, rs606231131, rs606231132, rs118203995, rs606231133, rs104894299, rs104894300, rs786200904, rs786200905, rs104894294, rs121909254, rs121909255, rs121909256, rs150376433, rs863223335, rs751889864, rs559933584, rs761899995, rs797045528, rs551423795, rs886037842, rs560525099, rs775583136, rs1349476281, rs794727884, rs1479498379, rs1555142142, rs1558010146, rs1558003446, rs1554757237, rs770987150, rs768892432, rs1558008455, rs1560224831, rs1558005340, rs747595523, rs1567568217, rs774070092, rs776532930, rs765096923, rs1560200925, rs201947904, rs1595903667, rs376573993, rs778172294, rs759488854, rs761584017, rs769850502
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
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Parkinson disease	Parkinsonian Disorders, PARKINSON DISEASE 19B, EARLY-ONSET, PARKINSON DISEASE 19A, JUVENILE-ONSET, Young-onset Parkinson disease	rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432, rs119451946, rs80356771, rs74500255, rs75822236, rs1141814, rs78973108, rs121908681, rs121908686, rs121908687, rs137853054, rs137853055, rs137853056, rs137853057, rs137853058, rs137853059, rs34424986, rs137853060, rs397518439, rs28938172, rs74315351, rs74315353, rs137853051, rs118192098, rs121918104, rs1589451049, rs104893877, rs104893878, rs188286943, rs387906863, rs387906864, rs774631197, rs199935023, 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	26703368, 22563501, 23211418, 26528954
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085

Unknown
Disease term	Disease name	Evidence	References	Source
Mental depression	Depressive disorder			ClinVar
Myocardial infarction	Myocardial Infarction		21211798	ClinVar
Parkinsonian disease	atypical juvenile parkinsonism			GenCC
Dementia	Dementia			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma Follicular	Associate	9832031
Alzheimer Disease	Associate	34948429
Anorchia	Associate	32472658
Carcinoma Hepatocellular	Associate	34312475
Cardiomyopathy Dilated	Associate	30373961
Cardiomyopathy Hypertrophic	Inhibit	31889077
Cowden Like Syndrome	Associate	9832031
Coxa Magna	Associate	28000841
Dystonia	Associate	38242634
Frontotemporal Lobar Degeneration	Associate	34948429
Hamartoma Syndrome Multiple	Associate	10920277
Hypersensitivity Delayed	Associate	32472658
Inflammatory Bowel Diseases	Associate	24155895
Intellectual Disability	Associate	22647716
Lewy Body Disease	Associate	34948429
Lysosomal Storage Diseases	Associate	33597231
Nerve Degeneration	Associate	33597231
Neurodegenerative Diseases	Associate	32472658, 33597231
Neurodevelopmental Disorders	Associate	33597231
Obesity	Associate	22647716, 39771044
Overweight	Associate	39771044
Pancreatic Neoplasms	Associate	37555827
Parkinson Disease	Associate	29735704, 30373961, 33597231, 34148545, 34948429, 38219303
Parkinson Disease Secondary	Associate	32472658, 38242634
Parkinsonian Disorders	Associate	22563501, 32472658
Prostatic Neoplasms	Associate	36922933
Ring Chromosome 20 Syndrome	Associate	22647716