VPS13A (vacuolar protein sorting 13 homolog A)

Gene

• Entrez ID: 23230
• Gene name: Vacuolar protein sorting 13 homolog A
• Gene symbol: VPS13A
• Synonyms (NCBI Gene): BLTP5A, CHAC, CHOREIN
• Chromosome: 9
• Chromosome location: 9q21.2
• Summary: The protein encoded by this gene may control steps in the cycling of proteins through the trans-Golgi network to endosomes, lysosomes and the plasma membrane. Mutations in this gene cause the autosomal recessive disorder, chorea-acanthocytosis. Alternativ

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs41289961	C>A,G	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs41289967	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs41307461	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs119477052	T>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs119477053	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs148656796	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs149694033	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs149840356	A>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs200280742	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs372141290	G>A	Likely-pathogenic	Splice donor variant
rs761923202	G>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant, stop gained
rs764376151	C>A,G,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, synonymous variant, missense variant
rs771004767	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs779746050	->AC	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs780664594	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs951347128	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1037030970	A>T	Likely-pathogenic	Splice acceptor variant
rs1057520049	G>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1085307750	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs1085307823	G>A	Pathogenic	Splice donor variant
rs1193250444	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1409849850	A>C,T	Pathogenic	Stop gained, coding sequence variant, missense variant, non coding transcript variant
rs1554879059	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1563974797	GG>-	Pathogenic	Intron variant
rs1564721202	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1587358566	A>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1587612257	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1587628060	A>T	Likely-pathogenic	Splice acceptor variant
rs1587653832	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1589994032	TTTA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1590003601	G>A	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030908	hsa-miR-21-5p	Microarray	18591254
MIRT046430	hsa-miR-15b-5p	CLASH	23622248
MIRT717782	hsa-miR-138-2-3p	HITS-CLIP	19536157
MIRT717781	hsa-miR-1301-5p	HITS-CLIP	19536157
MIRT717780	hsa-miR-6502-5p	HITS-CLIP	19536157
MIRT717779	hsa-miR-4326	HITS-CLIP	19536157
MIRT717778	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT717777	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT717776	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT717782	hsa-miR-138-2-3p	HITS-CLIP	19536157
MIRT717781	hsa-miR-1301-5p	HITS-CLIP	19536157
MIRT717780	hsa-miR-6502-5p	HITS-CLIP	19536157
MIRT717779	hsa-miR-4326	HITS-CLIP	19536157
MIRT717778	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT717777	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT717776	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT717782	hsa-miR-138-2-3p	HITS-CLIP	19536157
MIRT717781	hsa-miR-1301-5p	HITS-CLIP	19536157
MIRT717780	hsa-miR-6502-5p	HITS-CLIP	19536157
MIRT717779	hsa-miR-4326	HITS-CLIP	19536157
MIRT717778	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT717777	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT717776	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT717782	hsa-miR-138-2-3p	HITS-CLIP	19536157
MIRT717781	hsa-miR-1301-5p	HITS-CLIP	19536157
MIRT717780	hsa-miR-6502-5p	HITS-CLIP	19536157
MIRT717779	hsa-miR-4326	HITS-CLIP	19536157
MIRT717778	hsa-miR-7111-3p	HITS-CLIP	19536157
MIRT717777	hsa-miR-6780a-3p	HITS-CLIP	19536157
MIRT717776	hsa-miR-6881-3p	HITS-CLIP	19536157
MIRT1485881	hsa-miR-1267	CLIP-seq
MIRT1485882	hsa-miR-132	CLIP-seq
MIRT1485883	hsa-miR-137	CLIP-seq
MIRT1485884	hsa-miR-154	CLIP-seq
MIRT1485885	hsa-miR-182	CLIP-seq
MIRT1485886	hsa-miR-1827	CLIP-seq
MIRT1485887	hsa-miR-18a	CLIP-seq
MIRT1485888	hsa-miR-18b	CLIP-seq
MIRT1485889	hsa-miR-19a	CLIP-seq
MIRT1485890	hsa-miR-19b	CLIP-seq
MIRT1485891	hsa-miR-2117	CLIP-seq
MIRT1485892	hsa-miR-212	CLIP-seq
MIRT1485893	hsa-miR-219-2-3p	CLIP-seq
MIRT1485894	hsa-miR-28-5p	CLIP-seq
MIRT1485895	hsa-miR-3120-5p	CLIP-seq
MIRT1485896	hsa-miR-3139	CLIP-seq
MIRT1485897	hsa-miR-3147	CLIP-seq
MIRT1485898	hsa-miR-3156-5p	CLIP-seq
MIRT1485899	hsa-miR-34b	CLIP-seq
MIRT1485900	hsa-miR-369-3p	CLIP-seq
MIRT1485901	hsa-miR-374c	CLIP-seq
MIRT1485902	hsa-miR-3940-5p	CLIP-seq
MIRT1485903	hsa-miR-4425	CLIP-seq
MIRT1485904	hsa-miR-4426	CLIP-seq
MIRT1485905	hsa-miR-4477a	CLIP-seq
MIRT1485906	hsa-miR-4507	CLIP-seq
MIRT1485907	hsa-miR-455-3p	CLIP-seq
MIRT1485908	hsa-miR-4647	CLIP-seq
MIRT1485909	hsa-miR-4649-3p	CLIP-seq
MIRT1485910	hsa-miR-4662b	CLIP-seq
MIRT1485911	hsa-miR-4698	CLIP-seq
MIRT1485912	hsa-miR-4704-5p	CLIP-seq
MIRT1485913	hsa-miR-4735-3p	CLIP-seq
MIRT1485914	hsa-miR-4753-3p	CLIP-seq
MIRT1485915	hsa-miR-4781-3p	CLIP-seq
MIRT1485916	hsa-miR-494	CLIP-seq
MIRT1485917	hsa-miR-513c	CLIP-seq
MIRT1485918	hsa-miR-514b-5p	CLIP-seq
MIRT1485919	hsa-miR-518a-5p	CLIP-seq
MIRT1485920	hsa-miR-527	CLIP-seq
MIRT1485921	hsa-miR-655	CLIP-seq
MIRT1485922	hsa-miR-671-5p	CLIP-seq
MIRT1485923	hsa-miR-708	CLIP-seq
MIRT1485924	hsa-miR-885-5p	CLIP-seq
MIRT1485925	hsa-miR-889	CLIP-seq
MIRT1485926	hsa-miR-186	CLIP-seq
MIRT1485927	hsa-miR-3133	CLIP-seq
MIRT2146073	hsa-miR-3163	CLIP-seq
MIRT2146074	hsa-miR-330-3p	CLIP-seq
MIRT2146075	hsa-miR-3607-5p	CLIP-seq
MIRT2146076	hsa-miR-548an	CLIP-seq
MIRT1485911	hsa-miR-4698	CLIP-seq
MIRT1485916	hsa-miR-494	CLIP-seq
MIRT2695022	hsa-miR-129-5p	CLIP-seq
MIRT2695023	hsa-miR-33a	CLIP-seq
MIRT2695024	hsa-miR-33b	CLIP-seq
MIRT2695025	hsa-miR-4477b	CLIP-seq
MIRT1485916	hsa-miR-494	CLIP-seq
MIRT2695026	hsa-miR-499a-5p	CLIP-seq
MIRT2695027	hsa-miR-586	CLIP-seq
MIRT2695028	hsa-miR-617	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000902	Process	Cell morphogenesis	IEA
GO:0005515	Function	Protein binding	IPI	17474147, 30709847, 30741634
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IDA	30741634
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	30709847
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005768	Component	Endosome	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	30093493, 30709847, 30741634, 32845802
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005794	Component	Golgi apparatus	ISS
GO:0005811	Component	Lipid droplet	IDA	30093493, 30709847, 30741634, 32845802
GO:0005811	Component	Lipid droplet	IEA
GO:0005829	Component	Cytosol	IEA
GO:0006623	Process	Protein targeting to vacuole	IBA
GO:0006869	Process	Lipid transport	IEA
GO:0006895	Process	Golgi to endosome transport	NAS	11381253
GO:0006914	Process	Autophagy	IBA
GO:0006914	Process	Autophagy	IEA
GO:0006914	Process	Autophagy	IMP	25996471
GO:0007399	Process	Nervous system development	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008104	Process	Intracellular protein localization	NAS	11381254
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0009306	Process	Protein secretion	IEA
GO:0010008	Component	Endosome membrane	IDA	30709847
GO:0010008	Component	Endosome membrane	IEA
GO:0010467	Process	Gene expression	IEA
GO:0014004	Process	Microglia differentiation	IEA
GO:0016020	Component	Membrane	IEA
GO:0030218	Process	Erythrocyte differentiation	IEA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0030382	Process	Sperm mitochondrion organization	IEA
GO:0031045	Component	Dense core granule	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031547	Process	Brain-derived neurotrophic factor receptor signaling pathway	IEA
GO:0031966	Component	Mitochondrial membrane	IDA	30093493, 30709847
GO:0035176	Process	Social behavior	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035640	Process	Exploration behavior	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0044233	Component	Mitochondria-associated endoplasmic reticulum membrane contact site	IDA	30093493
GO:0045053	Process	Protein retention in Golgi apparatus	IBA
GO:0048167	Process	Regulation of synaptic plasticity	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0050905	Process	Neuromuscular process	IEA
GO:0060292	Process	Long-term synaptic depression	IEA
GO:0061744	Process	Motor behavior	IEA
GO:0071470	Process	Cellular response to osmotic stress	IEA
GO:0090648	Process	Response to environmental enrichment	IEA
GO:0097225	Component	Sperm midpiece	IEA
GO:0098992	Component	Neuronal dense core vesicle	IEA
GO:0099013	Component	Neuronal dense core vesicle lumen	IEA
GO:0099013	Component	Neuronal dense core vesicle lumen	ISS
GO:0140058	Process	Neuron projection arborization	IEA
GO:0150076	Process	Neuroinflammatory response	IEA
GO:1905146	Process	Lysosomal protein catabolic process	IMP	30709847

Other IDs

• MIM: 605978
• HGNC: 1908
• e!Ensembl: ENSG00000197969

Protein

• UniProt ID: Q96RL7
• Protein name: Intermembrane lipid transfer protein VPS13A (Chorea-acanthocytosis protein) (Chorein) (Vacuolar protein sorting-associated protein 13A)
• Protein function: Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Binds phospholipids (PubMed:34830155). Required for the formation or stabilization of ER-mitochondria contact sites which enable transfer of lipids bet
• 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	139 → 371	Vacuolar sorting-associated protein 13, N-terminal	Family
  PF16910	VPS13_mid_rpt	569 → 793	Repeating coiled region of VPS13	Repeat
  PF16910	VPS13_mid_rpt	1143 → 1335	Repeating coiled region of VPS13	Repeat
  PF06650	SHR-BD	2207 → 2456	SHR-binding domain of vacuolar-sorting associated protein 13	Family
  PF16909	VPS13_C	2764 → 2943	Vacuolar-sorting-associated 13 protein C-terminal	Family
  PF09333	ATG_C	2946 → 3037	Autophagy-related protein C terminal domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in red blood cells (at protein level) (PubMed:31086825). Widely expressed, with high expression in brain, heart, skeletal muscle and kidney (PubMed:15498460). {ECO:0000269|PubMed:15498460, ECO:0000269|PubMed:31086825}.
• Sequence:

  MVFESVVVDVLNRFLGDYVVDLDTSQLSLGIWKGAVALKNLQIKENALSQLDVPFKVKVG
  HIGNLKLIIPWKNLYTQPVEAVLEEIYLLIVPSSRIKYDPLKEEKQLMEAKQQELKRIEE
  AKQKVVDQEQHLPEKQDTFAEKLVTQIIKNLQVKISSIHIRYEDDITNRDKPLSFGISLQ
  NLSMQTTDQYWVPCLHDETEKLVRKLIRLDNLFAYWNVKSQMFYLSDYDNSLDDLKNGIV
  NENIVPEGYDFVFRPISANAKLVMNRRSDFDFSAPKINLEIELHNIAIEFNKPQYFSIME
  LLESVDMMAQNLPYRKFKPDVPLHHHAREWWAYAIHGVLEVNVCPRLWMWSWKHIRKHRQ
  KVKQYKELYKKKLTSKKPPGELLVSLEELEKTLDVFNITIARQTAEVEVKKAGYKIYKEG
  VKDPEDNKGWFSWLWSWSEQNTNEQQPDVQPETLEEMLTPEEKALLYEAIGYSETAVDPT
  LLKTFEALKFFVHLKSMSIVLRENHQKPELVDIVIEEFSTLIVQRPGAQAIKFETKIDSF
  HITGLPDNSEKPRLLSSLDDAMSLFQITFEINPLDETVSQRCIIEAEPLEIIYDARTVNS
  IVEFFRPPKEVHLAQLTAATLTKLEEFRSKTATGLLYIIETQKVLDLKINLKASYIIVPQ
  DGIFSPTSNLLLLDLGHLKVTSKSRSELPDVKQGEANLKEIMDRAYDSFDIQLTSVQLLY
  SRVGDNWREARKLSVSTQHILVPMHFNLELSKAMVFMDVRMPKFKIYGKLPLISLRISDK
  KLQGIMELIESIPKPEPVTEVSAPVKSFQIQTSTSLGTSQISQKIIPLLELPSVSEDDSE
  EEFFDAPCSPLEEPLQFPTGVKSIRTRKLQKQDCSVNMTTFKIRFEVPKVLIEFYHLVGD
  CELSVVEILVLGLGAEIEIRTYDLKANAFLKEFCLKCPEYLDENKKPVYLVTTLDNTMED
  LLTLEYVKAEKNVPDLKSTYNNVLQLIKVNFSSLDIHLHTEALLNTINYLHNILPQSEEK
  SAPVSTTETEDKGDVIKKLALKLSTNEDIITLQILAELSCLQIFIQDQKCNISEIKIEGL
  DSEMIMRPSETEINAKLRNIIVLDSDITAIYKKAVYITGKEVFSFKMVSYMDATAGSAYT
  DMNVVDIQVNLIVGCIEVVFVTKFLYSILAFIDNFQAAKQALAEATVQAAGMAATGVKEL
  AQRSSRMALDINIKAPVVVIPQSPVSENVFVADFGLITMTNTFHMITESQSSPPPVIDLI
  TIKLSEMRLYRSRFINDAYQEVLDLLLPLNLEVVVERNLCWEWYQEVPCFNVNAQLKPME
  FILSQEDITTIFKTLHGNIWYEKDGSASPAVTKDQYSATSGVTTNASHHSGGATVVTAAV
  VEVHSRALLVKTTLNISFKTDDLTMVLYSPGPKQASFTDVRDPSLKLAEFKLENIISTLK
  MYTDGSTFSSFSLKNCILDDKRPHVKKATPRMIGLTVGFDKKDMMDIKYRKVRDGCVTDA
  VFQEMYICASVEFLQTVANVFLEAYTTGTAVETSVQTWTAKEEVPTQESVKWEINVIIKN
  PEIVFVADMTKNDAPALVITTQCEICYKGNLENSTMTAAIKDLQVRACPFLPVKRKGKIT
  TVLQPCDLFYQTTQKGTDPQVIDMSVKSLTLKVSPVIINTMITITSALYTTKETIPEETA
  SSTAHLWEKKDTKTLKMWFLEESNETEKIAPTTELVPKGEMIKMNIDSIFIVLEAGIGHR
  TVPMLLAKSRFSGEGKNWSSLINLHCQLELEVHYYNEMFGVWEPLLEPLEIDQTEDFRPW
  NLGIKMKKKAKMAIVESDPEEENYKVPEYKTVISFHSKDQLNITLSKCGLVMLNNLVKAF
  TEAATGSSADFVKDLAPFMILNSLGLTISVSPSDSFSVLNIPMAKSYVLKNGESLSMDYI
  RTKDNDHFNAMTSLSSKLFFILLTPVNHSTADKIPLTKVGRRLYTVRHRESGVERSIVCQ
  IDTVEGSKKVTIRSPVQIRNHFSVPLSVYEGDTLLGTASPENEFNIPLGSYRSFIFLKPE
  DENYQMCEGIDFEEIIKNDGALLKKKCRSKNPSKESFLINIVPEKDNLTSLSVYSEDGWD
  LPYIMHLWPPILLRNLLPYKIAYYIEGIENSVFTLSEGHSAQICTAQLGKARLHLKLLDY
  LNHDWKSEYHIKPNQQDISFVSFTCVTEMEKTDLDIAVHMTYNTGQTVVAFHSPYWMVNK
  TGRMLQYKADGIHRKHPPNYKKPVLFSFQPNHFFNNNKVQLMVTDSELSNQFSIDTVGSH
  GAVKCKGLKMDYQVGVTIDLSSFNITRIVTFTPFYMIKNKSKYHISVAEEGNDKWLSLDL
  EQCIPFWPEYASSKLLIQVERSEDPPKRIYFNKQENCILLRLDNELGGIIAEVNLAEHST
  VITFLDYHDGAATFLLINHTKNELVQYNQSSLSEIEDSLPPGKAVFYTWADPVGSRRLKW
  RCRKSHGEVTQKDDMMMPIDLGEKTIYLVSFFEGLQRIILFTEDPRVFKVTYESEKAELA
  EQEIAVALQDVGISLVNNYTKQEVAYIGITSSDVVWETKPKKKARWKPMSVKHTEKLERE
  FKEYTESSPSEDKVIQLDTNVPVRLTPTGHNMKILQPHVIALRRNYLPALKVEYNTSAHQ
  SSFRIQIYRIQIQNQIHGAVFPFVFYPVKPPKSVTMDSAPKPFTDVSIVMRSAGHSQISR
  IKYFKVLIQEMDLRLDLGFIYALTDLMTEAEVTENTEVELFHKDIEAFKEEYKTASLVDQ
  SQVSLYEYFHISPIKLHLSVSLSSGREEAKDSKQNGGLIPVHSLNLLLKSIGATLTDVQD
  VVFKLAFFELNYQFHTTSDLQSEVIRHYSKQAIKQMYVLILGLDVLGNPFGLIREFSEGV
  EAFFYEPYQGAIQGPEEFVEGMALGLKALVGGAVGGLAGAASKITGAMAKGVAAMTMDED
  YQQKRREAMNKQPAGFREGITRGGKGLVSGFVSGITGIVTKPIKGAQKGGAAGFFKGVGK
  GLVGAVARPTGGIIDMASSTFQGIKRATETSEVESLRPPRFFNEDGVIRPYRLRDGTGNQ
  MLQVMENGRFAKYKYFTHVMINKTDMLMITRRGVLFVTKGTFGQLTCEWQYSFDEFTKEP
  FIVHGRRLRIEAKERVKSVFHAREFGKIINFKTPEDARWILTKLQEAREPSPSL

• Sequence length: 3174

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs1085307823	RCV001814164	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Chorea-acanthocytosis	Pathogenic; Likely pathogenic	rs1417246536, rs1830740171, rs2131587158, rs1827161118, rs1563939611, rs756865623, rs2131153683, rs763654348, rs1485186943, rs2131030007, rs2131432786, rs2131325491, rs2131371963, rs779075858, rs2131140222, rs748999076, rs2131325474, rs2131427489, rs981025037, rs2131394444, rs1312425146, rs1055609567, rs2538311239, rs2131029946, rs919186738, rs758612012, rs2538317743, rs748922513, rs119477052, rs951347128, rs119477053, rs1587653832, rs2538080058, rs2537897004, rs2537596049, rs2538311164, rs2537517002, rs2537595478, rs2537804052, rs2537840830, rs2538015512, rs2538161951, rs2538074780, rs2537843130, rs2537979982, rs764591495, rs2538203386, rs2538099164, rs2538198396, rs2537991917, rs772171799, rs1825184950, rs1488814919, rs2537720984, rs771004767, rs200280742, rs1085307750, rs1193250444, rs1037030970, rs761923202, rs779746050, rs764376151, rs1587628060, rs372141290, rs1587612257, rs780664594, rs1590003601, rs1829478568, rs1827048548, rs1251833565, rs781242821, rs1480778616, rs199807227, rs148173878, rs1827795601, rs1825188183, rs1829322194, rs748828128, rs771943305, rs1244139989, rs1829731758, rs756096368, rs1834577610	RCV001329572 RCV001329575 RCV001831343 RCV002283545 RCV006249752 RCV002493921 RCV001542675 RCV001785122 RCV001785123 RCV001784015 RCV001842240 RCV005042704 RCV005042587 RCV005050496 RCV005042674 RCV005042596 RCV002479584 RCV002490083 RCV005040418 RCV005607018 RCV005050524 RCV002507706 RCV002468947 RCV002272671 RCV002289268 RCV003485808 RCV005239612 RCV005045333 RCV000004946 RCV000004947 RCV000004949 RCV000004950 RCV005050664 RCV003129572 RCV003134710 RCV003134720 RCV003882767 RCV003882768 RCV003882769 RCV003882770 RCV003336689 RCV003336690 RCV003338056 RCV003388731 RCV003448767 RCV003486345 RCV003486346 RCV005047706 RCV005051355 RCV005047747 RCV005047791 RCV005616819 RCV005631255 RCV004515776 RCV001833500 RCV001833496 RCV003133278 RCV001829479 RCV001835838 RCV000030800 RCV001276369 RCV005047078 RCV004800596 RCV001830771 RCV000826154 RCV001003343 RCV001009622 RCV001030432 RCV003339452 RCV003339453 RCV001827241 RCV005047272 RCV001333419 RCV001827425 RCV001169883 RCV001195595 RCV004771496 RCV001828759 RCV001828675 RCV001828638 RCV001833799 RCV005050308 RCV001835280	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ovarian serous cystadenocarcinoma	Pathogenic	rs2131193680	RCV005924076	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
primray hypomagnesemia with secondary hypocalcemia	Pathogenic	rs1563974797	RCV000709701	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Likely pathogenic	rs2131325491	RCV005925705	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
VPS13A-related disorder	Likely pathogenic; Pathogenic	rs764376151, rs748828128	RCV003392604 RCV003405407	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN HEREDITARY CHOREA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREA ACANTHOCYTOSIS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREA, BENIGN FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREOACANTHOCYTOSIS	—	HPO, Orphanet HPO, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Conflicting classifications of pathogenicity	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
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abetalipoproteinemia	Abetalipoproteinemia	Pubtator	16060937, 27960157	Associate	★☆☆☆☆ Found in Text Mining only
Abetalipoproteinemia	Abetalipoproteinemia	BEFREE	17673232, 26921443, 29928881		★☆☆☆☆ Found in Text Mining only
Abetalipoproteinemia	Abetalipoproteinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	37794323	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	31969655	Associate	★☆☆☆☆ Found in Text Mining only
Behavioral tic	Tourette syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood group deletion syndrome	McLeod neuroacanthocytosis syndrome	BEFREE	17345646		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	31436916	Associate	★☆☆☆☆ Found in Text Mining only
Chorea Acanthocytosis Syndrome	Chorea	GENOMICS_ENGLAND_DG	11381253, 11381254, 14663054		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorea Acanthocytosis Syndrome	Chorea	UNIPROT_DG	11381253, 12404112		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorea Acanthocytosis Syndrome	Chorea	BEFREE	12404112, 15760637, 15918062, 16060937, 17673232, 18584183, 21145924, 21598378, 22366033, 24080826, 25996471, 26316086, 26813249, 26921443, 27280386, 27960157, 28301811, 28446873, 28803243, 29635714, 29928881, 30081151, 30453283, 30709847		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorea Acanthocytosis Syndrome	Chorea	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chorea Acanthocytosis Syndrome	Chorea	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Choreoacanthocytosis	Choreoacanthocytosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognition disorder	Pubtator	27960157	Associate	★☆☆☆☆ Found in Text Mining only
Cohen syndrome	Cohen syndrome	Pubtator	31876103	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21733561		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysgraphia	Dysgraphia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	31969655	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy Temporal Lobe	Temporal lobe epilepsy	Pubtator	16060937	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	16060937		★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	31321962	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkalemia	Hyperkalemia	Pubtator	27960157	Associate	★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	27960157	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lingual-Facial-Buccal Dyskinesia	Orofacial dyskinesia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25379943	Associate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	21733561		★☆☆☆☆ Found in Text Mining only
MICROPHTHALMIA, SYNDROMIC 7	Syndromic microphthalmia	BEFREE	17345646, 21145924		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	25871399	Inhibit	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	27280386	Associate	★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	21145924		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	21145924		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood swings	Mood swings	HPO_DG			★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	29518281		★☆☆☆☆ Found in Text Mining only
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	31888525	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	30453283, 30741634, 32407779, 32439941, 32845802, 34830155, 37163371	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	15918062, 17673232, 28803243, 30453283, 30709847		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	35093716	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	31876103, 37209156	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive distal muscular atrophy	Distal Muscular Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	25871399		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	25871399, 27960157, 37744224	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	26813249	Associate	★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	31436916	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only