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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	54832
Gene name Gene Name - the full gene name approved by the HGNC.	Vacuolar protein sorting 13 homolog C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	VPS13C
Synonyms (NCBI Gene) Gene synonyms aliases	BLTP5C, PARK23
Chromosome Chromosome number	15
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	15q22.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

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

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

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Parkinson disease	young-onset parkinson disease, parkinson disease, Autosomal recessive early-onset Parkinson disease 23	rs369100678, rs879253853, rs869320761, rs869312810, rs869312809, rs869312811	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Primary degenerative dementia of the Alzheimer type, presenile onset	N/A	N/A	ClinVar
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Metabolic Syndrome	Metabolic syndrome	N/A	N/A	GWAS
Oligodendroglioma	Oligodendroglioma	N/A	N/A	GWAS

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
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

VPS13C (vacuolar protein sorting 13 homolog C)