VPS13C (vacuolar protein sorting 13 homolog C)

Gene

• Entrez ID: 54832
• Gene name: Vacuolar protein sorting 13 homolog C
• Gene symbol: VPS13C
• Synonyms (NCBI Gene): BLTP5C, PARK23
• Chromosome: 15
• Chromosome location: 15q22.2
• Summary: This gene encodes a member of the vacuolar protein sorting-associated 13 gene family. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs369100678	C>G	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs756128065	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs869312809	A>C	Pathogenic	Genic downstream transcript variant, splice donor variant
rs869312810	C>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs869312811	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs869320761	->TCTG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs879253853	->TCTG	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT022057	hsa-miR-128-3p	Microarray	17612493
MIRT024877	hsa-miR-215-5p	Microarray	19074876
MIRT026941	hsa-miR-192-5p	Microarray	19074876
MIRT030336	hsa-miR-26b-5p	Microarray	19088304
MIRT045079	hsa-miR-186-5p	CLASH	23622248
MIRT043946	hsa-miR-378a-3p	CLASH	23622248
MIRT043638	hsa-miR-326	CLASH	23622248
MIRT439301	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439300	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439301	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT726136	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT726135	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT726133	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT726134	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT439300	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT1485978	hsa-miR-1297	CLIP-seq
MIRT1485979	hsa-miR-1305	CLIP-seq
MIRT1485980	hsa-miR-140-3p	CLIP-seq
MIRT1485981	hsa-miR-145	CLIP-seq
MIRT1485982	hsa-miR-2052	CLIP-seq
MIRT1485983	hsa-miR-26a	CLIP-seq
MIRT1485984	hsa-miR-26b	CLIP-seq
MIRT1485985	hsa-miR-3120-3p	CLIP-seq
MIRT1485986	hsa-miR-3149	CLIP-seq
MIRT1485987	hsa-miR-3591-3p	CLIP-seq
MIRT1485988	hsa-miR-369-3p	CLIP-seq
MIRT1485989	hsa-miR-374a	CLIP-seq
MIRT1485990	hsa-miR-374b	CLIP-seq
MIRT1485991	hsa-miR-411	CLIP-seq
MIRT1485992	hsa-miR-4263	CLIP-seq
MIRT1485993	hsa-miR-4275	CLIP-seq
MIRT1485994	hsa-miR-4310	CLIP-seq
MIRT1485995	hsa-miR-4465	CLIP-seq
MIRT1485996	hsa-miR-4637	CLIP-seq
MIRT1485997	hsa-miR-4659a-3p	CLIP-seq
MIRT1485998	hsa-miR-4659b-3p	CLIP-seq
MIRT1485999	hsa-miR-4666-5p	CLIP-seq
MIRT1486000	hsa-miR-4712-5p	CLIP-seq
MIRT1486001	hsa-miR-498	CLIP-seq
MIRT1486002	hsa-miR-556-3p	CLIP-seq
MIRT1486003	hsa-miR-568	CLIP-seq
MIRT1486004	hsa-miR-770-5p	CLIP-seq
MIRT1486005	hsa-miR-944	CLIP-seq
MIRT1486006	hsa-miR-3133	CLIP-seq
MIRT1485992	hsa-miR-4263	CLIP-seq
MIRT1486007	hsa-miR-4704-5p	CLIP-seq
MIRT1486008	hsa-miR-607	CLIP-seq
MIRT2146089	hsa-miR-377	CLIP-seq
MIRT1485993	hsa-miR-4275	CLIP-seq
MIRT1485994	hsa-miR-4310	CLIP-seq
MIRT1485999	hsa-miR-4666-5p	CLIP-seq
MIRT2146090	hsa-miR-4760-3p	CLIP-seq
MIRT1485980	hsa-miR-140-3p	CLIP-seq
MIRT2366604	hsa-miR-2053	CLIP-seq
MIRT2366605	hsa-miR-23a	CLIP-seq
MIRT2366606	hsa-miR-23b	CLIP-seq
MIRT2366607	hsa-miR-23c	CLIP-seq
MIRT1485987	hsa-miR-3591-3p	CLIP-seq
MIRT2366608	hsa-miR-3919	CLIP-seq
MIRT1485993	hsa-miR-4275	CLIP-seq
MIRT2366609	hsa-miR-4662a-3p	CLIP-seq
MIRT1485999	hsa-miR-4666-5p	CLIP-seq
MIRT2366610	hsa-miR-4704-3p	CLIP-seq
MIRT2366611	hsa-miR-4729	CLIP-seq
MIRT2366612	hsa-miR-539	CLIP-seq
MIRT2366613	hsa-miR-579	CLIP-seq
MIRT2366614	hsa-miR-587	CLIP-seq
MIRT2366615	hsa-miR-203	CLIP-seq
MIRT2396839	hsa-miR-3977	CLIP-seq
MIRT2463273	hsa-miR-1273	CLIP-seq
MIRT2463274	hsa-miR-217	CLIP-seq
MIRT2463275	hsa-miR-4486	CLIP-seq
MIRT2463276	hsa-miR-4649-5p	CLIP-seq
MIRT2463277	hsa-miR-661	CLIP-seq
MIRT2660025	hsa-miR-1262	CLIP-seq
MIRT2660026	hsa-miR-1269	CLIP-seq
MIRT2660027	hsa-miR-1269b	CLIP-seq
MIRT2463273	hsa-miR-1273	CLIP-seq
MIRT2660028	hsa-miR-1288	CLIP-seq
MIRT2660029	hsa-miR-1293	CLIP-seq
MIRT2463274	hsa-miR-217	CLIP-seq
MIRT2660030	hsa-miR-3613-3p	CLIP-seq
MIRT2660031	hsa-miR-3675-3p	CLIP-seq
MIRT2660032	hsa-miR-371-5p	CLIP-seq
MIRT2660033	hsa-miR-371b-5p	CLIP-seq
MIRT2660034	hsa-miR-409-5p	CLIP-seq
MIRT2660035	hsa-miR-4432	CLIP-seq
MIRT2660036	hsa-miR-4483	CLIP-seq
MIRT2463275	hsa-miR-4486	CLIP-seq
MIRT2660037	hsa-miR-4515	CLIP-seq
MIRT2660038	hsa-miR-451b	CLIP-seq
MIRT2463276	hsa-miR-4649-5p	CLIP-seq
MIRT2660039	hsa-miR-4684-5p	CLIP-seq
MIRT2660040	hsa-miR-4696	CLIP-seq
MIRT2660041	hsa-miR-4701-3p	CLIP-seq
MIRT2660042	hsa-miR-4738-3p	CLIP-seq
MIRT2660043	hsa-miR-4740-5p	CLIP-seq
MIRT2660044	hsa-miR-4795-5p	CLIP-seq
MIRT2660045	hsa-miR-4802-3p	CLIP-seq
MIRT2660046	hsa-miR-520d-5p	CLIP-seq
MIRT2660047	hsa-miR-524-5p	CLIP-seq
MIRT2660048	hsa-miR-548c-3p	CLIP-seq
MIRT2660049	hsa-miR-592	CLIP-seq
MIRT2660050	hsa-miR-597	CLIP-seq
MIRT2660051	hsa-miR-599	CLIP-seq
MIRT2660052	hsa-miR-621	CLIP-seq
MIRT2660053	hsa-miR-660	CLIP-seq
MIRT2463277	hsa-miR-661	CLIP-seq
MIRT2660025	hsa-miR-1262	CLIP-seq
MIRT2660026	hsa-miR-1269	CLIP-seq
MIRT2660027	hsa-miR-1269b	CLIP-seq
MIRT2463273	hsa-miR-1273	CLIP-seq
MIRT2660028	hsa-miR-1288	CLIP-seq
MIRT2660029	hsa-miR-1293	CLIP-seq
MIRT2695030	hsa-miR-1827	CLIP-seq
MIRT2463274	hsa-miR-217	CLIP-seq
MIRT2695031	hsa-miR-3122	CLIP-seq
MIRT2695032	hsa-miR-323b-3p	CLIP-seq
MIRT2660030	hsa-miR-3613-3p	CLIP-seq
MIRT2660031	hsa-miR-3675-3p	CLIP-seq
MIRT2695033	hsa-miR-3689a-3p	CLIP-seq
MIRT2695034	hsa-miR-3689c	CLIP-seq
MIRT2695035	hsa-miR-3913-5p	CLIP-seq
MIRT2695036	hsa-miR-3929	CLIP-seq
MIRT2660034	hsa-miR-409-5p	CLIP-seq
MIRT2695037	hsa-miR-4419b	CLIP-seq
MIRT2660035	hsa-miR-4432	CLIP-seq
MIRT2695038	hsa-miR-4478	CLIP-seq
MIRT2660036	hsa-miR-4483	CLIP-seq
MIRT2463275	hsa-miR-4486	CLIP-seq
MIRT2660037	hsa-miR-4515	CLIP-seq
MIRT2660038	hsa-miR-451b	CLIP-seq
MIRT2695039	hsa-miR-4649-3p	CLIP-seq
MIRT2463276	hsa-miR-4649-5p	CLIP-seq
MIRT2695040	hsa-miR-4661-5p	CLIP-seq
MIRT2660039	hsa-miR-4684-5p	CLIP-seq
MIRT2660040	hsa-miR-4696	CLIP-seq
MIRT2660041	hsa-miR-4701-3p	CLIP-seq
MIRT2695041	hsa-miR-4728-5p	CLIP-seq
MIRT2660042	hsa-miR-4738-3p	CLIP-seq
MIRT2660043	hsa-miR-4740-5p	CLIP-seq
MIRT2660044	hsa-miR-4795-5p	CLIP-seq
MIRT2660045	hsa-miR-4802-3p	CLIP-seq
MIRT2695042	hsa-miR-485-5p	CLIP-seq
MIRT2660046	hsa-miR-520d-5p	CLIP-seq
MIRT2660047	hsa-miR-524-5p	CLIP-seq
MIRT2695043	hsa-miR-548ac	CLIP-seq
MIRT2695044	hsa-miR-548ae	CLIP-seq
MIRT2695045	hsa-miR-548aj	CLIP-seq
MIRT2695046	hsa-miR-548am	CLIP-seq
MIRT2660048	hsa-miR-548c-3p	CLIP-seq
MIRT2695047	hsa-miR-548d-3p	CLIP-seq
MIRT2695048	hsa-miR-548x	CLIP-seq
MIRT2695049	hsa-miR-548z	CLIP-seq
MIRT2660049	hsa-miR-592	CLIP-seq
MIRT2660050	hsa-miR-597	CLIP-seq
MIRT2660051	hsa-miR-599	CLIP-seq
MIRT2660052	hsa-miR-621	CLIP-seq
MIRT2660053	hsa-miR-660	CLIP-seq
MIRT2463277	hsa-miR-661	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005737	Component	Cytoplasm	TAS	20081857
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IDA	26942284
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005764	Component	Lysosome	IDA	30093493
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IDA	30093493
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	30093493
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005811	Component	Lipid droplet	IDA	30093493
GO:0005811	Component	Lipid droplet	IEA
GO:0005829	Component	Cytosol	IDA	26942284
GO:0006623	Process	Protein targeting to vacuole	IBA
GO:0006869	Process	Lipid transport	IEA
GO:0006895	Process	Golgi to endosome transport	TAS	20081857
GO:0007005	Process	Mitochondrion organization	IBA
GO:0007005	Process	Mitochondrion organization	IMP	26942284
GO:0016020	Component	Membrane	IEA
GO:0031902	Component	Late endosome membrane	IEA
GO:0032127	Component	Dense core granule membrane	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0045053	Process	Protein retention in Golgi apparatus	IBA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:1905090	Process	Negative regulation of type 2 mitophagy	IMP	26942284

Other IDs

• MIM: 608879
• HGNC: 23594
• e!Ensembl: ENSG00000129003

Protein

• UniProt ID: Q709C8
• Protein name: Intermembrane lipid transfer protein VPS13C (Vacuolar protein sorting-associated protein 13C)
• Protein function: Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Necessary for proper mitochondrial function and maintenance of mitochondrial transmembrane potential (PubMed:26942284). Involved in the regulation of P
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12624	Chorein_N	3 → 117	N-terminal region of Chorein or VPS13	Family
  PF16908	VPS13	182 → 414	Vacuolar sorting-associated protein 13, N-terminal	Family
  PF16910	VPS13_mid_rpt	612 → 833	Repeating coiled region of VPS13	Repeat
  PF16910	VPS13_mid_rpt	1174 → 1371	Repeating coiled region of VPS13	Repeat
  PF16910	VPS13_mid_rpt	1688 → 1885	Repeating coiled region of VPS13	Repeat
  PF06650	SHR-BD	2764 → 3018	SHR-binding domain of vacuolar-sorting associated protein 13	Family
  PF16909	VPS13_C	3322 → 3500	Vacuolar-sorting-associated 13 protein C-terminal	Family
  PF09333	ATG_C	3503 → 3593	Autophagy-related protein C terminal domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:15498460}.
• Sequence:

  MVLESVVADLLNRFLGDYVENLNKSQLKLGIWGGNVALDNLQIKENALSELDVPFKVKAG
  QIDKLTLKIPWKNLYGEAVVATLEGLYLLVVPGASIKYDAVKEEKSLQDVKQKELSRIEE
  ALQKAAEKGTHSGEFIYGLENFVYKDIKPGRKRKKHKKHFKKPFKGLDRSKDKPKEAKKD
  TFVEKLATQVIKNVQVKITDIHIKYEDDVTDPKRPLSFGVTLGELSLLTANEHWTPCILN
  EADKIIYKLIRLDSLSAYWNVNCSMSYQRSREQILDQLKNEILTSGNIPPNYQYIFQPIS
  ASAKLYMNPYAESELKTPKLDCNIEIQNIAIELTKPQYLSMIDLLESVDYMVRNAPYRKY
  KPYLPLHTNGRRWWKYAIDSVLEVHIRRYTQMWSWSNIKKHRQLLKSYKIAYKNKLTQSK
  VSEEIQKEIQDLEKTLDVFNIILARQQAQVEVIRSGQKLRKKSADTGEKRGGWFSGLWGK
  KESKKKDEESLIPETIDDLMTPEEKDKLFTAIGYSESTHNLTLPKQYVAHIMTLKLVSTS
  VTIRENKNIPEILKIQIIGLGTQVSQRPGAQALKVEAKLEHWYITGLRQQDIVPSLVASI
  GDTTSSLLKIKFETNPEDSPADQTLIVQSQPVEVIYDAKTVNAVVEFFQSNKGLDLEQIT
  SATLMKLEEIKERTATGLTHIIETRKVLDLRINLKPSYLVVPQTGFHHEKSDLLILDFGT
  FQLNSKDQGLQKTTNSSLEEIMDKAYDKFDVEIKNVQLLFARAEETWKKCRFQHPSTMHI
  LQPMDIHVELAKAMVEKDIRMARFKVSGGLPLMHVRISDQKMKDVLYLMNSIPLPQKSSA
  QSPERQVSSIPIISGGTKGLLGTSLLLDTVESESDDEYFDAEDGEPQTCKSMKGSELKKA
  AEVPNEELINLLLKFEIKEVILEFTKQQKEEDTILVFNVTQLGTEATMRTFDLTVVSYLK
  KISLDYHEIEGSKRKPLHLISSSDKPGLDLLKVEYIKADKNGPSFQTAFGKTEQTVKVAF
  SSLNLLLQTQALVASINYLTTIIPSDDQSISVAKEVQISTEKQQKNSTLPKAIVSSRDSD
  IIDFRLFAKLNAFCVIVCNEKNNIAEIKIQGLDSSLSLQSRKQSLFARLENIIVTDVDPK
  TVHKKAVSIMGNEVFRFNLDLYPDATEGDLYTDMSKVDGVLSLNVGCIQIVYLHKFLMSL
  LNFLNNFQTAKESLSAATAQAAERAATSVKDLAQRSFRVSINIDLKAPVIVIPQSSISTN
  AVVVDLGLIRVHNQFSLVSDEDYLNPPVIDRMDVQLTKLTLYRTVIQPGIYHPDIQLLHP
  INLEFLVNRNLAASWYHKVPVVEIKGHLDSMNVSLNQEDLNLLFRILTENLCEGTEDLDK
  VKPRVQETGEIKEPLEISISQDVHDSKNTLTTGVEEIRSVDIINMLLNFEIKEVVVTLMK
  KSEKKGRPLHELNVLQLGMEAKVKTYDMTAKAYLKKISMQCFDFTDSKGEPLHIINSSNV
  TDEPLLKMLLTKADSDGPEFKTIHDSTKQRLKVSFASLDLVLHLEALLSFMDFLSSAAPF
  SEPSSSEKESELKPLVGESRSIAVKAVSSNISQKDVFDLKITAELNAFNVFVCDQKCNIA
  DIKIHGMDASISVKPKQTDVFARLKDIIVMNVDLQSIHKKAVSILGDEVFRFQLTLYPDA
  TEGEAYADMSKVDGKLSFKVGCIQIVYVHKFFMSLLNFLNNFQTAKEALSTATVQAAERA
  ASSMKDLAQKSFRLLMDINLKAPVIIIPQSSVSPNAVIADLGLIRVENKFSLVPMEHYSL
  PPVIDKMNIELTQLKLSRTILQASLPQNDIEILKPVNMLLSIQRNLAAAWYVQIPGMEIK
  GKLKPMQVALSEDDLTVLMKILLENLGEASSQPSPTQSVQETVRVRKVDVSSVPDHLKEQ
  EDWTDSKLSMNQIVSLQFDFHFESLSIILYNNDINQESGVAFHNDSFQLGELRLHLMASS
  GKMFKDGSMNVSVKLKTCTLDDLREGIERATSRMIDRKNDQDNNSSMIDISYKQDKNGSQ
  IDAVLDKLYVCASVEFLMTVADFFIKAVPQSPENVAKETQILPRQTATGKVKIEKDDSVR
  PNMTLKAMITDPEVVFVASLTKADAPALTASFQCNLSLSTSKLEQMMEASVRDLKVLACP
  FLREKRGKNITTVLQPCSLFMEKCTWASGKQNINIMVKEFIIKISPIILNTVLTIMAALS
  PKTKEDGSKDTSKEMENLWGIKSINDYNTWFLGVDTATEITESFKGIEHSLIEENCGVVV
  ESIQVTLECGLGHRTVPLLLAESKFSGNIKNWTSLMAAVADVTLQVHYYNEIHAVWEPLI
  ERVEGKRQWNLRLDVKKNPVQDKSLLPGDDFIPEPQMAIHISSGNTMNITISKSCLNVFN
  NLAKGFSEGTASTFDYSLKDRAPFTVKNAVGVPIKVKPNCNLRVMGFPEKSDIFDVDAGQ
  NLELEYASMVPSSQGNLSILSRQESSFFTLTIVPHGYTEVANIPVARPGRRLYNVRNPNA
  SHSDSVLVQIDATEGNKVITLRSPLQIKNHFSIAFIIYKFVKNVKLLERIGIARPEEEFH
  VPLDSYRCQLFIQPAGILEHQYKESTTYISWKEELHRSREVRCMLQCPSVEVSFLPLIVN
  TVALPDELSYICTHGEDWDVAYIIHLYPSLTLRNLLPYSLRYLLEGTAETHELAEGSTAD
  VLHSRISGEIMELVLVKYQGKNWNGHFRIRDTLPEFFPVCFSSDSTEVTTVDLSVHVRRI
  GSRMVLSVFSPYWLINKTTRVLQYRSEDIHVKHPADFRDIILFSFKKKNIFTKNKVQLKI
  STSAWSSSFSLDTVGSYGCVKCPANNMEYLVGVSIKMSSFNLSRIVTLTPFCTIANKSSL
  ELEVGEIASDGSMPTNKWNYIASSECLPFWPESLSGKLCVRVVGCEGSSKPFFYNRQDNG
  TLLSLEDLNGGILVDVNTAEHSTVITFSDYHEGSAPALIMNHTPWDILTYKQSGSPEEMV
  LLPRQARLFAWADPTGTRKLTWTYAANVGEHDLLKDGCGQFPYDANIQIHWVSFLDGRQR
  VLLFTDDVALVSKALQAEEMEQADYEITLSLHSLGLSLVNNESKQEVSYIGITSSGVVWE
  VKPKQKWKPFSQKQIILLEQSYQKHQISRDHGWIKLDNNFEVNFDKDPMEMRLPIRSPIK
  RDFLSGIQIEFKQSSHQRSLRARLYWLQVDNQLPGAMFPVVFHPVAPPKSIALDSEPKPF
  IDVSVITRFNEYSKVLQFKYFMVLIQEMALKIDQGFLGAIIALFTPTTDPEAERRRTKLI
  QQDIDALNAELMETSMTDMSILSFFEHFHISPVKLHLSLSLGSGGEESDKEKQEMFAVHS
  VNLLLKSIGATLTDVDDLIFKLAYYEIRYQFYKRDQLIWSVVRHYSEQFLKQMYVLVLGL
  DVLGNPFGLIRGLSEGVEALFYEPFQGAVQGPEEFAEGLVIGVRSLFGHTVGGAAGVVSR
  ITGSVGKGLAAITMDKEYQQKRREELSRQPRDFGDSLARGGKGFLRGVVGGVTGIITKPV
  EGAKKEGAAGFFKGIGKGLVGAVARPTGGIVDMASSTFQGIQRAAESTEEVSSLRPPRLI
  HEDGIIRPYDRQESEGSDLLENHIKKLEGETYRYHCAIPGSKKTILMVTNRRVLCIKEVE
  ILGLMCVDWQCPFEDFVFPPSVSENVLKISVKEQGLFHKKDSANQGCVRKVYLKDTATAE
  RACNAIEDAQSTRQQQKLMKQSSVRLLRPQLPS

• Sequence length: 3753

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Autosomal recessive early-onset Parkinson disease 23	Likely pathogenic; Pathogenic	rs2046226928, rs199723460, rs2140234163, rs148074630, rs2140867780, rs869312810, rs869312809, rs869312811, rs369100678, rs869320761, rs755656180, rs779001393, rs758866426, rs2547907419, rs749766354, rs2547907937, rs1157052586, rs1180158172, rs138846118, rs752457309	RCV001332171 RCV001785127 RCV001785129 RCV001784020 RCV001784021 RCV000210213 RCV000210216 RCV000210222 RCV000210217 RCV000210223 RCV003131878 RCV003337804 RCV003493249 RCV003989148 RCV003989205 RCV003990346 RCV003991764 RCV004566648 RCV005408687 RCV001262677
Gastric cancer	Likely pathogenic	rs779001393	RCV005931163
Parkinson disease	Pathogenic; Likely pathogenic	rs869312810, rs869312809, rs869312811, rs369100678, rs879253853	RCV000235875 RCV000236364 RCV000235403 RCV000236463 RCV000236948
VPS13C-related disorder	Likely pathogenic	rs376861755, rs1334809949, rs769411694	RCV003420817 RCV003408596 RCV004750954
Young-onset Parkinson disease	Likely pathogenic; Pathogenic	rs2046893100, rs369100678, rs1596387135, rs769411694, rs2547988538, rs372559831, rs1555423941, rs752457309	RCV004018133 RCV004017487 RCV004018078 RCV004018079 RCV004018080 RCV004018081 RCV004018132 RCV004017812

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign	rs77733354, rs28721460	RCV005916938 RCV005917163
Cholangiocarcinoma	Benign	rs2414753, rs8030161, rs963023	RCV005924825 RCV005920418 RCV005920396
Clear cell carcinoma of kidney	Likely benign	rs201785369	RCV005926519
Colorectal cancer	Benign	rs2303405	RCV005916992
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs1355893979	RCV004558044
Familial cancer of breast	Likely benign	rs777128386, rs144512255	RCV005935074 RCV005907549
Hepatocellular carcinoma	Benign	rs963023	RCV005920392
Lung cancer	Benign; Uncertain significance	rs2414753, rs141515062	RCV005924826 RCV005926584
Malignant lymphoma, large B-cell, diffuse	Benign	rs2303405, rs11071641, rs8030161, rs963023, rs11071640	RCV005916991 RCV005921813 RCV005920413 RCV005920393 RCV005923796
Malignant tumor of esophagus	Benign; Likely benign	rs4143844, rs28721460, rs8030161, rs144512255	RCV005918223 RCV005917164 RCV005920412 RCV005907550
Nonpapillary renal cell carcinoma	Benign	rs17238189	RCV005920447
Ovarian serous cystadenocarcinoma	Benign	rs77733354, rs28721460, rs8030161, rs963023	RCV005916940 RCV005917167 RCV005920416 RCV005920395
Primary degenerative dementia of the Alzheimer type, presenile onset	Uncertain significance	rs1019238429	RCV001090105
Sarcoma	Benign	rs28721460, rs8030161, rs963023, rs17238189	RCV005917165 RCV005920414 RCV005920394 RCV005921918
Thymoma	Benign	rs4143844, rs28721460, rs8030161, rs11071640	RCV005918224 RCV005917168 RCV005920417 RCV005923797
Thyroid cancer, nonmedullary, 1	Likely benign	rs144512255	RCV005907551
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs4143844, rs963023, rs144512255	RCV005918225 RCV005920397 RCV005907552

Associations from Text Mining
Disease Name	Relationship Type	References
Cohen syndrome	Associate	31876103
Dementia	Associate	31836585, 37330543
Diabetes Mellitus Type 2	Stimulate	21873549
Glucose Metabolism Disorders	Associate	21789219
Lewy Body Disease	Associate	33579389
Lupus Erythematosus Systemic	Associate	39306342
Lupus Vasculitis Central Nervous System	Associate	39306342
Melanoma Cutaneous Malignant	Associate	33663112
Multiple Myeloma	Associate	37700273
Neuroacanthocytosis	Associate	31876103
Neurodegenerative Diseases	Associate	37330543
Obesity	Associate	21789219
Pancreatic Intraductal Neoplasms	Associate	22355676
Parkinson Disease	Associate	33579389, 34250953, 35657605, 39914017, 40282414
Parkinson Disease Secondary	Associate	31876103