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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	27445
Gene name	Piccolo presynaptic cytomatrix protein
Gene symbol	PCLO
Synonyms (NCBI Gene)	ACZPCH3
Chromosome	7
Chromosome location	7q21.11
Summary	The protein encoded by this gene is part of the presynaptic cytoskeletal matrix, which is involved in establishing active synaptic zones and in synaptic vesicle trafficking. Variations in this gene have been associated with bipolar disorder and major depr

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SNP ID	Visualize variation	Clinical significance	Consequence
rs112144434	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs746260871	G>A,C,T	Pathogenic	Coding sequence variant, intron variant, non coding transcript variant, synonymous variant, stop gained, missense variant
rs1584071201	->T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

120

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miRTarBase ID	miRNA	Experiments	Reference
MIRT054337	mmu-miR-153-3p	Luciferase reporter assayqRT-PCRWestern blot	23595248
MIRT721119	hsa-miR-548e-5p	HITS-CLIP	19536157
MIRT721118	hsa-miR-7-1-3p	HITS-CLIP	19536157
MIRT721117	hsa-miR-7-2-3p	HITS-CLIP	19536157
MIRT721116	hsa-miR-3166	HITS-CLIP	19536157
MIRT440030	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440029	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT440028	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT440030	hsa-miR-432-5p	HITS-CLIP	24374217
MIRT440029	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT440028	hsa-miR-136-5p	HITS-CLIP	24374217
MIRT733518	hsa-miR-1200	Microarray	34164896
MIRT721119	hsa-miR-548e-5p	HITS-CLIP	19536157
MIRT721118	hsa-miR-7-1-3p	HITS-CLIP	19536157
MIRT721117	hsa-miR-7-2-3p	HITS-CLIP	19536157
MIRT721116	hsa-miR-3166	HITS-CLIP	19536157
MIRT1217783	hsa-miR-129-5p	CLIP-seq
MIRT1217784	hsa-miR-1343	CLIP-seq
MIRT1217785	hsa-miR-151-3p	CLIP-seq
MIRT1217786	hsa-miR-3622b-5p	CLIP-seq
MIRT1217787	hsa-miR-3942-3p	CLIP-seq
MIRT1217788	hsa-miR-4463	CLIP-seq
MIRT1217789	hsa-miR-4499	CLIP-seq
MIRT1217790	hsa-miR-4513	CLIP-seq
MIRT1217791	hsa-miR-4720-5p	CLIP-seq
MIRT1217792	hsa-miR-4775	CLIP-seq
MIRT1217793	hsa-miR-4789-5p	CLIP-seq
MIRT1217794	hsa-miR-4799-3p	CLIP-seq
MIRT1217795	hsa-miR-516a-3p	CLIP-seq
MIRT1217796	hsa-miR-656	CLIP-seq
MIRT1217797	hsa-miR-1208	CLIP-seq
MIRT1217798	hsa-miR-1236	CLIP-seq
MIRT1217799	hsa-miR-1252	CLIP-seq
MIRT1217800	hsa-miR-1253	CLIP-seq
MIRT1217801	hsa-miR-19a	CLIP-seq
MIRT1217802	hsa-miR-19b	CLIP-seq
MIRT1217803	hsa-miR-208a	CLIP-seq
MIRT1217804	hsa-miR-208b	CLIP-seq
MIRT1217805	hsa-miR-3123	CLIP-seq
MIRT1217806	hsa-miR-3182	CLIP-seq
MIRT1217807	hsa-miR-3529	CLIP-seq
MIRT1217808	hsa-miR-3609	CLIP-seq
MIRT1217809	hsa-miR-3658	CLIP-seq
MIRT1217810	hsa-miR-3689a-5p	CLIP-seq
MIRT1217811	hsa-miR-3689b	CLIP-seq
MIRT1217812	hsa-miR-3689e	CLIP-seq
MIRT1217813	hsa-miR-3689f	CLIP-seq
MIRT1217814	hsa-miR-379	CLIP-seq
MIRT1217815	hsa-miR-3924	CLIP-seq
MIRT1217816	hsa-miR-3925-5p	CLIP-seq
MIRT1217817	hsa-miR-3976	CLIP-seq
MIRT1217818	hsa-miR-3977	CLIP-seq
MIRT1217819	hsa-miR-4279	CLIP-seq
MIRT1217820	hsa-miR-4432	CLIP-seq
MIRT1217821	hsa-miR-4446-5p	CLIP-seq
MIRT1217822	hsa-miR-4451	CLIP-seq
MIRT1217823	hsa-miR-4477a	CLIP-seq
MIRT1217824	hsa-miR-4520a-3p	CLIP-seq
MIRT1217825	hsa-miR-4520b-3p	CLIP-seq
MIRT1217826	hsa-miR-4533	CLIP-seq
MIRT1217827	hsa-miR-4536	CLIP-seq
MIRT1217828	hsa-miR-4650-3p	CLIP-seq
MIRT1217829	hsa-miR-4679	CLIP-seq
MIRT1217830	hsa-miR-4697-3p	CLIP-seq
MIRT1217831	hsa-miR-4747-5p	CLIP-seq
MIRT1217832	hsa-miR-4755-5p	CLIP-seq
MIRT1217833	hsa-miR-499-5p	CLIP-seq
MIRT1217834	hsa-miR-505	CLIP-seq
MIRT1217835	hsa-miR-518a-5p	CLIP-seq
MIRT1217836	hsa-miR-520g	CLIP-seq
MIRT1217837	hsa-miR-520h	CLIP-seq
MIRT1217838	hsa-miR-527	CLIP-seq
MIRT1217839	hsa-miR-548ag	CLIP-seq
MIRT1217840	hsa-miR-548ah	CLIP-seq
MIRT1217841	hsa-miR-548ai	CLIP-seq
MIRT1217842	hsa-miR-579	CLIP-seq
MIRT1217843	hsa-miR-624	CLIP-seq
MIRT1217844	hsa-miR-642b	CLIP-seq
MIRT1217845	hsa-miR-890	CLIP-seq
MIRT1217834	hsa-miR-505	CLIP-seq
MIRT2062961	hsa-miR-2115	CLIP-seq
MIRT2062962	hsa-miR-3064-5p	CLIP-seq
MIRT2062963	hsa-miR-3646	CLIP-seq
MIRT2062964	hsa-miR-3647-3p	CLIP-seq
MIRT2062965	hsa-miR-4676-5p	CLIP-seq
MIRT2062966	hsa-miR-4687-3p	CLIP-seq
MIRT2062967	hsa-miR-499-3p	CLIP-seq
MIRT2062968	hsa-miR-499a-3p	CLIP-seq
MIRT1217795	hsa-miR-516a-3p	CLIP-seq
MIRT2062969	hsa-miR-548a-3p	CLIP-seq
MIRT2062970	hsa-miR-548e	CLIP-seq
MIRT2062971	hsa-miR-548f	CLIP-seq
MIRT2062972	hsa-miR-575	CLIP-seq
MIRT2062973	hsa-miR-892b	CLIP-seq
MIRT2291389	hsa-miR-1273f	CLIP-seq
MIRT2291390	hsa-miR-1305	CLIP-seq
MIRT2291391	hsa-miR-1324	CLIP-seq
MIRT2291392	hsa-miR-3136-5p	CLIP-seq
MIRT2291393	hsa-miR-3913-3p	CLIP-seq
MIRT1217816	hsa-miR-3925-5p	CLIP-seq
MIRT2291394	hsa-miR-4439	CLIP-seq
MIRT2291395	hsa-miR-4534	CLIP-seq
MIRT2291396	hsa-miR-4668-3p	CLIP-seq
MIRT2291397	hsa-miR-4698	CLIP-seq
MIRT2062967	hsa-miR-499-3p	CLIP-seq
MIRT2062968	hsa-miR-499a-3p	CLIP-seq
MIRT2291398	hsa-miR-513a-3p	CLIP-seq
MIRT2291399	hsa-miR-607	CLIP-seq
MIRT2291400	hsa-miR-943	CLIP-seq
MIRT2392212	hsa-miR-153	CLIP-seq
MIRT2392213	hsa-miR-3921	CLIP-seq
MIRT2392214	hsa-miR-4302	CLIP-seq
MIRT2392215	hsa-miR-448	CLIP-seq
MIRT2392216	hsa-miR-4653-5p	CLIP-seq
MIRT2392217	hsa-miR-4684-3p	CLIP-seq
MIRT1217834	hsa-miR-505	CLIP-seq
MIRT1217783	hsa-miR-129-5p	CLIP-seq
MIRT2588888	hsa-miR-580	CLIP-seq
MIRT1217783	hsa-miR-129-5p	CLIP-seq
MIRT2588888	hsa-miR-580	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	ISS
GO:0005522	Function	Profilin binding	IEA
GO:0005522	Function	Profilin binding	ISS
GO:0005544	Function	Calcium-dependent phospholipid binding	IEA
GO:0005544	Function	Calcium-dependent phospholipid binding	ISS
GO:0005856	Component	Cytoskeleton	NAS	10508862
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007010	Process	Cytoskeleton organization	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016079	Process	Synaptic vesicle exocytosis	NAS	10508862
GO:0017157	Process	Regulation of exocytosis	IEA
GO:0030073	Process	Insulin secretion	IEA
GO:0030424	Component	Axon	IBA
GO:0035418	Process	Protein localization to synapse	IBA
GO:0035418	Process	Protein localization to synapse	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043226	Component	Organelle	IEA
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0048786	Component	Presynaptic active zone	IEA
GO:0048788	Component	Cytoskeleton of presynaptic active zone	IBA
GO:0048788	Component	Cytoskeleton of presynaptic active zone	TAS	15217342
GO:0048790	Process	Maintenance of presynaptic active zone structure	IEA
GO:0051049	Process	Regulation of transport	IEA
GO:0065008	Process	Regulation of biological quality	IEA
GO:0070062	Component	Extracellular exosome	HDA	18570454
GO:0097091	Process	Synaptic vesicle clustering	IEA
GO:0098882	Function	Structural constituent of presynaptic active zone	IBA
GO:0098882	Function	Structural constituent of presynaptic active zone	IEA
GO:0098978	Component	Glutamatergic synapse	IBA
GO:0098982	Component	GABA-ergic synapse	IBA
GO:0099140	Process	Presynaptic actin cytoskeleton organization	IEA
GO:0099172	Process	Presynapse organization	IEA
GO:1904071	Process	Presynaptic active zone assembly	IBA

MIM	HGNC	e!Ensembl
604918	13406	ENSG00000186472

Q9Y6V0

Protein name

Protein piccolo (Aczonin)

Protein function

Scaffold protein of the presynaptic cytomatrix at the active zone (CAZ) which is the place in the synapse where neurotransmitter is released (By similarity). After synthesis, participates in the formation of Golgi-derived membranous organelles t

PDB

1UJD

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05715	zf-piccolo	587 → 646	Piccolo Zn-finger	Domain
PF05715	zf-piccolo	1057 → 1115	Piccolo Zn-finger	Domain
PF00595	PDZ	4502 → 4589	PDZ domain	Domain
PF00168	C2	4707 → 4825	C2 domain	Domain
PF00168	C2	5024 → 5134	C2 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Moderately expressed in the developing cerebral cortex. {ECO:0000269|PubMed:25832664}.

Sequence

MGNEASLEGEGLPEGLAAAAAAGGGASGAGSPSHTAIPAGMEADLSQLSEEERRQIAAVM
SRAQGLPKGSVPPAAAESPSMHRKQELDSSHPPKQSGRPPDPGRPAQPGLSKSRTTDTFR
SEQKLPGRSPSTISLKESKSRTDLKEEHKSSMMPGFLSEVNALSAVSSVVNKFNPFDLIS
DSEASQEETTKKQKVVQKEQGKPEGIIKPPLQQQPPKPIPKQQGPGRDPLQQDGTPKSIS
SQQPEKIKSQPPGTGKPIQGPTQTPQTDHAKLPLQRDASRPQTKQADIVRGESVKPSLPS
PSKPPIQQPTPGKPPAQQPGHEKSQPGPAKPPAQPSGLTKPLAQQPGTVKPPVQPPGTTK
PPAQPLGPAKPPAQQTGSEKPSSEQPGPKALAQPPGVGKTPAQQPGPAKPPTQQVGTPKP
LAQQPGLQSPAKAPGPTKTPVQQPGPGKIPAQQAGPGKTSAQQTGPTKPPSQLPGPAKPP
PQQPGPAKPPPQQPGSAKPPSQQPGSTKPPPQQPGPAKPSPQQPGSTKPPSQQPGSAKPS
AQQPSPAKPSAQQSTKPVSQTGSGKPLQPPTVSPSAKQPPSQGLPKTICPLCNTTELLLH
VPEKANFNTCTECQTTVCSLCGFNPNPHLTEVKEWLCLNCQMKRALGGDLAPVPSSPQPK
LKTAPVTTTSAVSKSSPQPQQTSPKKDAAPKQDLSKAPEPKKPPPLVKQPTLHGSPSAKA
KQPPEADSLSKPAPPKEPSVPSEQDKAPVADDKPKQPKMVKPTTDLVSSSSATTKPDIPS
SKVQSQAEEKTTPPLKTDSAKPSQSFPPTGEKVSPFDSKAIPRPASDSKIISHPGPSSES
KGQKQVDPVQKKEEPKKAQTKMSPKPDAKPMPKGSPTPPGPRPTAGQTVPTPQQSPKPQE
QSRRFSLNLGSITDAPKSQPTTPQETVTGKLFGFGASIFSQASNLISTAGQPGPHSQSGP
GAPMKQAPAPSQPPTSQGPPKSTGQAPPAPAKSIPVKKETKAPAAEKLEPKAEQAPTVKR
TETEKKPPPIKDSKSLTAEPQKAVLPTKLEKSPKPESTCPLCKTELNIGSKDPPNFNTCT
ECKNQVCNLCGFNPTPHLTEIQEWLCLNCQTQRAISGQLGDIRKMPPAPSGPKASPMPVP
TESSSQKTAVPPQVKLVKKQEQEVKTEAEKVILEKVKETLSMEKIPPMVTTDQKQEESKL
EKDKASALQEKKPLPEEKKLIPEEEKIRSEEKKPLLEEKKPTPEDKKLLPEAKTSAPEEQ
KHDLLKSQVQIAEEKLEGRVAPKTVQEGKQPQTKMEGLPSGTPQSLPKEDDKTTKTIKEQ
PQPPCTAKPDQVEPGKEKTEKEDDKSDTSSSQQPKSPQGLSDTGYSSDGISSSLGEIPSL
IPTDEKDILKGLKKDSFSQESSPSSPSDLAKLESTVLSILEAQASTLADEKSEKKTQPHE
VSPEQPKDQEKTQSLSETLEITISEEEIKESQEERKDTFKKDSQQDIPSSKDHKEKSEFV
DDITTRREPYDSVEESSESENSPVPQRKRRTSVGSSSSDEYKQEDSQGSGEEEDFIRKQI
IEMSADEDASGSEDDEFIRNQLKEISSSTESQKKEETKGKGKITAGKHRRLTRKSSTSID
EDAGRRHSWHDEDDEAFDESPELKYRETKSQESEELVVTGGGGLRRFKTIELNSTIADKY
SAESSQKKTSLYFDEEPELEMESLTDSPEDRSRGEGSSSLHASSFTPGTSPTSVSSLDED
SDSSPSHKKGESKQQRKARHRPHGPLLPTIEDSSEEEELREEEELLKEQEKQREIEQQQR
KSSSKKSKKDKDELRAQRRRERPKTPPSNLSPIEDASPTEELRQAAEMEELHRSSCSEYS
PSIESDPEGFEISPEKIIEVQKVYKLPTAVSLYSPTDEQSIMQKEGSQKALKSAEEMYEE
MMHKTHKYKAFPAANERDEVFEKEPLYGGMLIEDYIYESLVEDTYNGSVDGSLLTRQEEE
NGFMQQKGREQKIRLSEQIYEDPMQKITDLQKEFYELESLHSVVPQEDIVSSSFIIPESH
EIVDLGTMVTSTEEERKLLDADAAYEELMKRQQMQLTPGSSPTQAPIGEDMTESTMDFDR
MPDASLTSSVLSGASLTDSTSSATLSIPDVKITQHFSTEEIEDEYVTDYTREIQEIIAHE
SLILTYSEPSESATSVPPSDTPSLTSSVSSVCTTDSSSPITTLDSITTVYTEPVDMITKF
EDSEEISSSTYFPGSIIDYPEEISVSLDRTAPPDGRASADHIVISLSDMASSIIESVVPK
PEGPVADTVSTDLLISEKDPVKKAKKETGNGIILEVLEAYRDKKELEAERTKSSLSETVF
DHPPSSVIALPMKEQLSTTYFTSGETFGQEKPASQLPSGSPSVSSLPAKPRPFFRSSSLD
ISAQPPPPPPPPPPPPPPPPPPPPPPLPPPTSPKPTILPKKKLTVASPVTTATPLFDAVT
TLETTAVLRSNGLPVTRICTTAPPPVPPKPSSIPSGLVFTHRPEPSKPPIAPKPVIPQLP
TTTQKPTDIHPKPTGLSLTSSMTLNLVTSADYKLPSPTSPLSPHSNKSSPRFSKSLTETY
VVITLPSEPGTPTDSSASQAITSWPLGSPSKDLVSVEPVFSVVPPVTAVEIPISSEQTFY
ISGALQTFSATPVTAPSSFQAAPTSVTQFLTTEVSKTEVSATRSTAPSVGLSSISITIPP
EPLALDNIHLEKPQYKEDGKLQLVGDVIDLRTVPKVEVKTTDKCIDLSASTMDVKRQITA
NEVYGKQISAVQPSIINLSVTSSIVTPVSLATETVTFVTCTASASYTTGTESLVGAEHAM
TTPLQLTTSKHAEPPYRIPSDQVFPIAREEAPINLSLGTPAHAVTLAITKPVTVPPVGVT
NGWTDSTVSQGITDGEVVDLSTTKSHRTVVTMDESTSSVMTKIIEDEKPVDLTAGRRAVC
CDVVYKLPFGRSCTAQQPATTLPEDRFGYRDDHYQYDRSGPYGYRGIGGMKPSMSDTNLA
EAGHFFYKSKNAFDYSEGTDTAVDLTSGRVTTGEVMDYSSKTTGPYPETRQVISGAGIST
PQYSTARMTPPPGPQYCVGSVLRSSNGVVYSSVATPTPSTFAITTQPGSIFSTTVRDLSG
IHTADAVTSLPAMHHSQPMPRSYFITTGASETDIAVTGIDISASLQTITMESLTAETIDS
VPTLTTASEVFPEVVGDESALLIVPEEDKQQQQLDLERELLELEKIKQQRFAEELEWERQ
EIQRFREQEKIMVQKKLEELQSMKQHLLFQQEEERQAQFMMRQETLAQQQLQLEQIQQLQ
QQLHQQLEEQKIRQIYQYNYDPSGTASPQTTTEQAILEGQYAALEGSQFWATEDATTTAS
AVVAIEIPQSQGWYTVQSDGVTQYIAPPGILSTVSEIPLTDVVVKEEKQPKKRSSGAKVR
GQYDDMGENMTDDPRSFKKIVDSGVQTDDEDATDRSYVSRRRRTKKSVDTSVQTDDEDQD
EWDMPTRSRRKARVGKYGDSMTEADKTKPLSKVSSIAVQTVAEISVQTEPVGTIRTPSIR
ARVDAKVEIIKHISAPEKTYKGGSLGCQTEADSDTQSPQYLSATSPPKDKKRPTPLEIGY
SSHLRADSTVQLAPSPPKSPKVLYSPISPLSPGKALESAFVPYEKPLPDDISPQKVLHPD
MAKVPPASPKTAKMMQRSMSDPKPLSPTADESSRAPFQYTEGYTTKGSQTMTSSGAQKKV
KRTLPNPPPEEISTGTQSTFSTMGTVSRRRICRTNTMARAKILQDIDRELDLVERESAKL
RKKQAELDEEEKEIDAKLRYLEMGINRRKEALLKEREKRERAYLQGVAEDRDYMSDSEVS
STRPTRIESQHGIERPRTAPQTEFSQFIPPQTQTESQLVPPTSPYTQYQYSSPALPTQAP
TSYTQQSHFEQQTLYHQQVSPYQTQPTFQAVATMSFTPQVQPTPTPQPSYQLPSQMMVIQ
QKPRQTTLYLEPKITSNYEVIRNQPLMIAPVSTDNTFAVSHLGSKYNSLDLRIGLEERSS
MASSPISSISADSFYADIDHHTPRNYVLIDDIGEITKGTAALSTAFSLHEKDLSKTDRLL
RTTETRRSQEVTDFLAPLQSSSRLHSYVKAEEDPMEDPYELKLLKHQIKQEFRRGTESLD
HLAGLSHYYHADTSYRHFPKSEKYSISRLTLEKQAAKQLPAAILYQKQSKHKKSLIDPKM
SKFSPIQESRDLEPDYSSYMTSSTSSIGGISSRARLLQDDITFGLRKNITDQQKFMGSSL
GTGLGTLGNTIRSALQDEADKPYSSGSRSRPSSRPSSVYGLDLSIKRDSSSSSLRLKAQE
AEALDVSFSHASSSARTKPTSLPISQSRGRIPIVAQNSEEESPLSPVGQPMGMARAAAGP
LPPISADTRDQFGSSHSLPEVQQHMREESRTRGYDRDIAFIMDDFQHAMSDSEAYHLRRE
ETDWFDKPRESRLENGHGLDRKLPERLVHSRPLSQHQEQIIQMNGKTMHYIFPHARIKIT
RDSKDHTVSGNGLGIRIVGGKEIPGHSGEIGAYIAKILPGGSAEQTGKLMEGMQVLEWNG
IPLTSKTYEEVQSIISQQSGEAEICVRLDLNMLSDSENSQHLELHEPPKAVDKAKSPGVD
PKQLAAELQKVSLQQSPLVLSSVVEKGSHVHSGPTSAGSSSVPSPGQPGSPSVSKKKHGS
SKPTDGTKVVSHPITGEIQLQINYDLGNLIIHILQARNLVPRDNNGYSDPFVKVYLLPGR
GQVMVVQNASAEYKRRTKHVQKSLNPEWNQTVIYKSISMEQLKKKTLEVTVWDYDRFSSN
DFLGEVLIDLSSTSHLDNTPRWYPLKEQTESIDHGKSHSSQSSQQSPKPSVIKSRSHGIF
PDPSKDMQVPTIEKSHSSPGSSKSSSEGHLRSHGPSRSQSKTSVTQTHLEDAGAAIAAAE
AAVQQLRIQPTKPPNHRPAESSVSTGSSGSSFGSGYSVDSEGSSSTAGETNLFPIPRIGK
MGQNGQEPVKQPGVGVGLADTEAKTQVMGEIKIALKKEMKTDGEQLIVEILQCRNITYKF
KSPDHLPDLYVKIYVMNISTQKKVIKKKTRVCRHDREPSFNETFRFSLSPAGHSLQILLF
SNGGKFMKKTLIGEACIWLDKVDLRKRIVNWHKLLVSPTQTH

Sequence length

5142

Interactions

View interactions

	KEGG
	Insulin secretion

178

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
PCLO-related disorder	Likely pathogenic; Pathogenic	rs2484897383	RCV003400008
Pontocerebellar hypoplasia type 3	Pathogenic; Likely pathogenic	rs746260871, rs2484900067, rs1584071201	RCV000173044 RCV003236299 RCV000984488

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Uncertain significance; Conflicting classifications of pathogenicity	rs1034153155, rs182078347	RCV005924084 RCV005907270
Cholangiocarcinoma	Benign; Likely benign	rs117776963	RCV005913094
Colon adenocarcinoma	Likely benign	rs766820629	RCV005925442
Colorectal cancer	Likely benign; Uncertain significance	rs200999253, rs375287995	RCV005926014 RCV005932029
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	rs377297010	RCV004558691
Malignant tumor of esophagus	Likely benign	rs143208658	RCV005926228
Microcephaly	Uncertain significance	rs191183215	RCV001252797
Sarcoma	Conflicting classifications of pathogenicity	rs182078347	RCV005907271
Squamous cell carcinoma of the head and neck	Uncertain significance	rs774073890	RCV005928456
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs117776963	RCV005913095

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Alzheimer Disease	Associate	26059363
Atrophy	Associate	25832664
Autistic Disorder	Associate	36914870
Bipolar Disorder	Associate	21185011, 24167553
Carcinoma Hepatocellular	Associate	24988079
Depressive Disorder	Associate	22832399
Depressive Disorder Major	Associate	22293360, 22832399
Diabetes Mellitus	Associate	18647954
Diabetes Mellitus Type 2	Associate	18647954
Heredodegenerative Disorders Nervous System	Associate	25832664
Idiopathic Hypogonadotropic Hypogonadism	Associate	37679557
Insulin Resistance	Associate	18647954
Lymphoma Large B Cell Diffuse	Associate	22343534
Mood Disorders	Associate	21185011
Neoplasms	Associate	32017470
Obesity	Associate	37800791
Pontocerebellar Hypoplasia Type 2	Associate	25832664
Schizophrenia	Associate	36914870
Seizures	Associate	25832664
Stomach Neoplasms	Associate	32034058
Urinary Bladder Neoplasms	Associate	37800791
Uveitis	Associate	39892202

PCLO (piccolo presynaptic cytomatrix protein)