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

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 (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
PCLO-related disorder	Likely pathogenic; Pathogenic	rs2484897383	RCV003400008	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pontocerebellar hypoplasia type 3	Pathogenic; Likely pathogenic	rs746260871, rs2484900067, rs1584071201	RCV000173044 RCV003236299 RCV000984488	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (38)

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.
ANOREXIA NERVOSA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IRRITABLE BOWEL SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIXED CONNECTIVE TISSUE DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PONTOCEREBELLAR HYPOPLASIA, TYPE 3	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOAFFECTIVE DISORDER-BIPOLAR TYPE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (66)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Alzheimer Disease	Alzheimer disease	Pubtator	26059363	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	25832664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	12175852, 12707945		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	36914870	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	21185011, 24167553		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	21185011, 24167553	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	BEFREE	24167553		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24988079	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	25832664		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29779672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryopyrin-Associated Periodic Syndromes	Cryopyrin-Associated Periodic Syndromes	BEFREE	20069137		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	19942622, 20159343, 22832399, 23620758, 24643163, 25379724, 26391493		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	19942622, 22832399, 23620758, 24643163, 25379724		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	22832399	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	22293360, 22832399	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	12175852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	18647954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18647954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18647954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia-Ischemia, Brain	Ischemic Encephalopathy	BEFREE	31580838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism	Pubtator	37679557	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	18647954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	12175852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	19065144, 19942622, 20701824, 22386049, 22832909, 24278217, 24643163, 26045179, 28540843, 28556829		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASDB_DG	19065144, 21621269		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	GWASCAT_DG	21621269, 28540843, 30718901		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	22386049, 22832399, 22832909, 24278217, 24643163		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28263981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	19942622, 20159343, 22832399, 23620758, 24643163, 25379724, 26391493		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	19942622, 22832399, 23620758, 24643163, 25379724		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	25817861		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	12175852		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	21185011	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	24643163		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	25832664		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	37800791	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar Hypoplasia Type 2	Pontocerebellar hypoplasia	Pubtator	25832664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontocerebellar hypoplasia type 3	Pontoneocerebellar hypoplasia	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder)	Pontocerebellar hypoplasia	GENOMICS_ENGLAND_DG	25832664		★★★★★ ★☆☆☆☆ Found in Text Mining only
PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder)	Pontocerebellar hypoplasia	ORPHANET_DG	25832664		★★★★★ ★☆☆☆☆ Found in Text Mining only
PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder)	Pontocerebellar hypoplasia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder)	Pontocerebellar hypoplasia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	25832664		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29779672		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizoaffective disorder, bipolar type	Schizoaffective Disorder	GWASCAT_DG	31043756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22234486		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	36914870	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizures	Seizures	Pubtator	25832664	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	28263981		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32034058	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	19065144, 19942622, 20701824, 22386049, 24643163, 26045179, 28540843, 28556829		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	22386049, 22832399, 22832909, 24278217, 24643163		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	37800791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uveitis	Uveitis	Pubtator	39892202	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	12175852		★★★★★ ★☆☆☆☆ Found in Text Mining only

PCLO (piccolo presynaptic cytomatrix protein)