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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54832
Gene name	Vacuolar protein sorting 13 homolog C
Gene symbol	VPS13C
Synonyms (NCBI Gene)	BLTP5CPARK23
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]

Show/Hide all (7)

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

160

Show/Hide all (160)

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

Show/Hide all (27)

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

MIM	HGNC	e!Ensembl
608879	23594	ENSG00000129003

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

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive early-onset Parkinson disease 23	Likely pathogenic; Pathogenic	rs2046226928, rs199723460, rs2140234163, rs148074630, rs2140867780, rs869312810, rs869312809, rs869312811, rs369100678, rs869320761, rs755656180, rs779001393, rs758866426, rs2547907419, rs749766354 View all (5 more)	RCV001332171 RCV001785127 RCV001785129 RCV001784020 RCV001784021 View all (15 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Gastric cancer	Likely pathogenic	rs779001393	RCV005931163	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson disease	Pathogenic; Likely pathogenic	rs869312810, rs869312809, rs869312811, rs369100678, rs879253853	RCV000235875 RCV000236364 RCV000235403 RCV000236463 RCV000236948	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
VPS13C-related disorder	Likely pathogenic	rs376861755, rs1334809949, rs769411694	RCV003420817 RCV003408596 RCV004750954	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Young-onset Parkinson disease	Likely pathogenic; Pathogenic	rs2046893100, rs369100678, rs1596387135, rs769411694, rs2547988538, rs372559831, rs1555423941, rs752457309	RCV004018133 RCV004017487 RCV004018078 RCV004018079 RCV004018080 RCV004018081 RCV004018132 RCV004017812 View all (3 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (30)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC RETINOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMIPARKINSONISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PARKINSONISM OR PARKINSONS DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL OR BEHAVIOURAL DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE, EARLY ONSET	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary degenerative dementia of the Alzheimer type, presenile onset	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID HEMIAGENESIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
YOUNG ONSET PARKINSON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (50)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abnormal male sexual function	Abnormal Male Sexual Function	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Akinesia	Akinesia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	BEFREE	26942284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30376358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cohen syndrome	Cohen syndrome	Pubtator	31876103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	31836585, 37330543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia of frontal lobe type	Dementia Of Frontal Lobe	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	21249489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	21249489		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	21873549	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	20081857, 21249489, 22956255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Female sexual dysfunction	Female sexual dysfunction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	22956255		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26942284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	26942284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	33579389	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	39306342	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Male sexual dysfunction	Male sexual dysfunction	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	30376358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	33663112	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	29518281		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	37700273	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30376358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	37330543	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	21789219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	21789219	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	30376358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Panic Attacks	Panic Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	26678010, 26804608, 27653855, 28380328, 28862745, 29622492		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parkinson Disease	Parkinson disease	CLINVAR_DG	26942284		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parkinson Disease	Parkinson disease	Pubtator	33579389, 34250953, 35657605, 39914017, 40282414	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET	Parkinson disease	UNIPROT_DG	26942284		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET	Parkinson disease	GENOMICS_ENGLAND_DG	28862745		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET	Parkinson disease	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET	Parkinson disease	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	31876103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	26942284		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Social Communication Disorder	Social Communication Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	28862745		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Young-onset Parkinson disease	Parkinson disease	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

VPS13C (vacuolar protein sorting 13 homolog C)