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	5116
Gene name	Pericentrin
Gene symbol	PCNT
Synonyms (NCBI Gene)	KENMOPD2PCNPCNT2PCNTBPCTN2SCKL4
Chromosome	21
Chromosome location	21q22.3
Summary	The protein encoded by this gene binds to calmodulin and is expressed in the centrosome. It is an integral component of the pericentriolar material (PCM). The protein contains a series of coiled-coil domains and a highly conserved PCM targeting motif call

Show/Hide all (71)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35513449	C>G,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs112633352	C>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs113342730	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs113591604	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs115369710	G>A	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs119479061	G>T	Pathogenic-likely-pathogenic	5 prime UTR variant, upstream transcript variant, coding sequence variant, stop gained, genic upstream transcript variant
rs119479062	C>T	Pathogenic	Coding sequence variant, stop gained
rs119479063	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs119479064	C>T	Pathogenic	Coding sequence variant, stop gained
rs140398533	C>A,T	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs141771795	G>C	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs143511166	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs144869229	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs147189224	A>G	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147358856	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs148444313	C>T	Benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs149623054	A>G	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs150436577	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs150882711	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs151020551	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs151325202	G>A,C,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs181690344	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs199566483	A>T	Likely-pathogenic	Coding sequence variant, stop gained
rs201185279	C>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs368199588	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs369195346	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs371917839	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs372175239	G>A,C,T	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs377164652	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs387906928	G>A,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs397509366	A>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs397514033	->T	Pathogenic	Frameshift variant, coding sequence variant
rs587779355	G>T	Pathogenic, likely-pathogenic	5 prime UTR variant, stop gained, genic upstream transcript variant, coding sequence variant
rs587784302	CAGACTTTGAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs587784308	G>T	Pathogenic	Stop gained, coding sequence variant
rs587784312	CCTGGCAGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs587784319	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs587784320	->T	Pathogenic	Frameshift variant, coding sequence variant
rs587784321	C>T	Pathogenic	Stop gained, coding sequence variant
rs747058622	->G	Pathogenic	Frameshift variant, coding sequence variant
rs749426946	C>T	Pathogenic	Stop gained, coding sequence variant
rs755084205	G>A	Pathogenic	Splice acceptor variant
rs757577162	C>T	Pathogenic	Stop gained, coding sequence variant
rs757793925	C>G,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs774553297	A>C,G	Likely-pathogenic	Splice acceptor variant
rs777830265	C>T	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs797045875	AAAG>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs797045879	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs869312917	C>T	Pathogenic	Stop gained, coding sequence variant
rs869312929	->GGCCC	Pathogenic	Frameshift variant, coding sequence variant
rs1064793985	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1131691484	T>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, genic upstream transcript variant
rs1217566598	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs1315359733	G>A,T	Pathogenic	Coding sequence variant, missense variant, stop gained
rs1359618876	G>T	Pathogenic	Stop gained, coding sequence variant
rs1369869782	A>-,AA	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1474939581	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555954069	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555954786	A>G	Pathogenic	Splice acceptor variant
rs1555956600	->G	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555959737	ATGAAATTATGTTGTCTGTAGGTAAAACACAATCTAATTGAAGACCACCAGAA>-	Likely-pathogenic	Intron variant, splice acceptor variant, 5 prime UTR variant, coding sequence variant
rs1555962301	A>T	Pathogenic	Stop gained, coding sequence variant
rs1555973872	G>T	Pathogenic	Stop gained, coding sequence variant
rs1555974965	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555993038	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555999948	G>T	Pathogenic	Stop gained, coding sequence variant
rs1569178877	G>A	Pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs1569239749	G>C	Pathogenic	Missense variant, coding sequence variant
rs1569249386	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1601176084	AGA>GGCC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1601795448	->G	Pathogenic	Frameshift variant, coding sequence variant, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant

Show/Hide all (67)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016284	hsa-miR-193b-3p	Microarray	20304954
MIRT020608	hsa-miR-155-5p	Proteomics	18668040
MIRT028428	hsa-miR-30a-5p	Proteomics	18668040
MIRT029023	hsa-miR-26b-5p	Microarray	19088304
MIRT046776	hsa-miR-222-3p	CLASH	23622248
MIRT046166	hsa-miR-30b-5p	CLASH	23622248
MIRT044148	hsa-miR-30e-5p	CLASH	23622248
MIRT041629	hsa-miR-484	CLASH	23622248
MIRT040017	hsa-miR-615-3p	CLASH	23622248
MIRT622904	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT622903	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT622902	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT622901	hsa-miR-5584-5p	HITS-CLIP	23824327
MIRT622900	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT622899	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT622898	hsa-miR-3148	HITS-CLIP	23824327
MIRT622896	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT622895	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT622904	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT622903	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT622902	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT622901	hsa-miR-5584-5p	HITS-CLIP	23824327
MIRT622900	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT622899	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT622898	hsa-miR-3148	HITS-CLIP	23824327
MIRT622897	hsa-miR-6124	HITS-CLIP	23824327
MIRT622896	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT622895	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT622904	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT622903	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT622902	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT622901	hsa-miR-5584-5p	HITS-CLIP	23824327
MIRT622900	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT622899	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT622898	hsa-miR-3148	HITS-CLIP	23824327
MIRT622896	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT622895	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT622904	hsa-miR-670-3p	HITS-CLIP	23824327
MIRT622903	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT622902	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT622901	hsa-miR-5584-5p	HITS-CLIP	23824327
MIRT622900	hsa-miR-4762-5p	HITS-CLIP	23824327
MIRT622899	hsa-miR-627-3p	HITS-CLIP	23824327
MIRT622898	hsa-miR-3148	HITS-CLIP	23824327
MIRT622897	hsa-miR-6124	HITS-CLIP	23824327
MIRT622896	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT622895	hsa-miR-1238-3p	HITS-CLIP	23824327
MIRT2063054	hsa-miR-1827	CLIP-seq
MIRT2063055	hsa-miR-2392	CLIP-seq
MIRT2063056	hsa-miR-3134	CLIP-seq
MIRT2063057	hsa-miR-3612	CLIP-seq
MIRT2063058	hsa-miR-3622a-5p	CLIP-seq
MIRT2063059	hsa-miR-432	CLIP-seq
MIRT2063060	hsa-miR-4423-3p	CLIP-seq
MIRT2063061	hsa-miR-4437	CLIP-seq
MIRT2063062	hsa-miR-4443	CLIP-seq
MIRT2063063	hsa-miR-4476	CLIP-seq
MIRT2063064	hsa-miR-4533	CLIP-seq
MIRT2063065	hsa-miR-4685-5p	CLIP-seq
MIRT2063066	hsa-miR-650	CLIP-seq
MIRT2063067	hsa-miR-940	CLIP-seq
MIRT2589113	hsa-miR-2861	CLIP-seq
MIRT2589114	hsa-miR-3974	CLIP-seq
MIRT2589115	hsa-miR-493	CLIP-seq
MIRT2589113	hsa-miR-2861	CLIP-seq
MIRT2589114	hsa-miR-3974	CLIP-seq
MIRT2589115	hsa-miR-493	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IMP	18955030
GO:0005515	Function	Protein binding	IPI	12812986, 15094396, 16980960, 18955030, 20466722, 22797915, 24816561, 25503564, 26496610, 26638075
GO:0005516	Function	Calmodulin binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	18955030, 19543530, 20186884, 21399614, 22797915, 27137183
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	24421332
GO:0005815	Component	Microtubule organizing center	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0007020	Process	Microtubule nucleation	IBA
GO:0007052	Process	Mitotic spindle organization	IBA
GO:0007052	Process	Mitotic spindle organization	IMP	25220058
GO:0007165	Process	Signal transduction	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0034451	Component	Centriolar satellite	IDA	22797915
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0060271	Process	Cilium assembly	IDA	15337773
GO:0090316	Process	Positive regulation of intracellular protein transport	IMP	22797915

MIM	HGNC	e!Ensembl
605925	16068	ENSG00000160299

O95613

Protein name

Pericentrin (Kendrin) (Pericentrin-B)

Protein function

Integral component of the filamentous matrix of the centrosome involved in the initial establishment of organized microtubule arrays in both mitosis and meiosis. Plays a role, together with DISC1, in the microtubule network formation. Is an inte

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF10495	PACT_coil_coil	3138 → 3216	Pericentrin-AKAP-450 domain of centrosomal targeting protein	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in all tissues tested, including placenta, liver, kidney and thymus. {ECO:0000269|PubMed:10823944}.

Sequence

MEVEQEQRRRKVEAGRTKLAHFRQRKTKGDSSHSEKKTAKRKGSAVDASVQEESPVTKED
SALCGGGDICKSTSCDDTPDGAGGAFAAQPEDCDGEKREDLEQLQQKQVNDHPPEQCGMF
TVSDHPPEQHGMFTVGDHPPEQRGMFTVSDHPPEQHGMFTVSDHPPEQRGMFTISDHQPE
QRGMFTVSDHTPEQRGIFTISDHPAEQRGMFTKECEQECELAITDLESGREDEAGLHQSQ
AVHGLELEALRLSLSNMHTAQLELTQANLQKEKETALTELREMLNSRRAQELALLQSRQQ
HELELLREQHAREKEEVVLRCGQEAAELKEKLQSEMEKNAQIVKTLKEDWESEKDLCLEN
LRKELSAKHQSEMEDLQNQFQKELAEQRAELEKIFQDKNQAERALRNLESHHQAAIEKLR
EDLQSEHGRCLEDLEFKFKESEKEKQLELENLQASYEDLKAQSQEEIRRLWSQLDSARTS
RQELSELHEQLLARTSRVEDLEQLKQREKTQHESELEQLRIYFEKKLRDAEKTYQEDLTL
LQQRLQGAREDALLDSVEVGLSCVGLEEKPEKGRKDHVDELEPERHKESLPRFQAELEES
HRHQLEALESPLCIQHEGHVSDRCCVETSALGHEWRLEPSEGHSQELPWVHLQGVQDGDL
EADTERAARVLGLETEHKVQLSLLQTELKEEIELLKIENRNLYGKLQHETRLKDDLEKVK
HNLIEDHQKELNNAKQKTELMKQEFQRKETDWKVMKEELQREAEEKLTLMLLELREKAES
EKQTIINKFELREAEMRQLQDQQAAQILDLERSLTEQQGRLQQLEQDLTSDDALHCSQCG
REPPTAQDGELAALHVKEDCALQLMLARSRFLEERKEITEKFSAEQDAFLQEAQEQHARE
LQLLQERHQQQLLSVTAELEARHQAALGELTASLESKQGALLAARVAELQTKHAADLGAL
ETRHLSSLDSLESCYLSEFQTIREEHRQALELLRADFEEQLWKKDSLHQTILTQELEKLK
RKHEGELQSVRDHLRTEVSTELAGTVAHELQGVHQGEFGSEKKTALHEKEETLRLQSAQA
QPFHQEEKESLSLQLQKKNHQVQQLKDQVLSLSHEIEECRSELEVLQQRRERENREGANL
LSMLKADVNLSHSERGALQDALRRLLGLFGETLRAAVTLRSRIGERVGLCLDDAGAGLAL
STAPALEETWSDVALPELDRTLSECAEMSSVAEISSHMRESFLMSPESVRECEQPIRRVF
QSLSLAVDGLMEMALDSSRQLEEARQIHSRFEKEFSFKNEETAQVVRKHQELLECLKEES
AAKAELALELHKTQGTLEGFKVETADLKEVLAGKEDSEHRLVLELESLRRQLQQAAQEQA
ALREECTRLWSRGEATATDAEAREAALRKEVEDLTKEQSETRKQAEKDRSALLSQMKILE
SELEEQLSQHRGCAKQAEAVTALEQQVASLDKHLRNQRQFMDEQAAEREHEREEFQQEIQ
RLEGQLRQAAKPQPWGPRDSQQAPLDGEVELLQQKLREKLDEFNELAIQKESADRQVLMQ
EEEIKRLEEMNINIRKKVAQLQEEVEKQKNIVKGLEQDKEVLKKQQMSSLLLASTLQSTL
DAGRCPEPPSGSPPEGPEIQLEVTQRALLRRESEVLDLKEQLEKMKGDLESKNEEILHLN
LKLDMQNSQTAVSLRELEEENTSLKVIYTRSSEIEELKATIENLQENQKRLQKEKAEEIE
QLHEVIEKLQHELSLMGPVVHEVSDSQAGSLQSELLCSQAGGPRGQALQGELEAALEAKE
ALSRLLADQERRHSQALEALQQRLQGAEEAAELQLAELERNVALREAEVEDMASRIQEFE
AALKAKEATIAERNLEIDALNQRKAAHSAELEAVLLALARIRRALEQQPLAAGAAPPELQ
WLRAQCARLSRQLQVLHQRFLRCQVELDRRQARRATAHTRVPGAHPQPRMDGGAKAQVTG
DVEASHDAALEPVVPDPQGDLQPVLVTLKDAPLCKQEGVMSVLTVCQRQLQSELLLVKNE
MRLSLEDGGKGKEKVLEDCQLPKVDLVAQVKQLQEKLNRLLYSMTFQNVDAADTKSLWPM
ASAHLLESSWSDDSCDGEEPDISPHIDTCDANTATGGVTDVIKNQAIDACDANTTPGGVT
DVIKNWDSLIPDEMPDSPIQEKSECQDMSLSSPTSVLGGSRHQSHTAEAGPRKSPVGMLD
LSSWSSPEVLRKDWTLEPWPSLPVTPHSGALSLCSADTSLGDRADTSLPQTQGPGLLCSP
GVSAAALALQWAESPPADDHHVQRTAVEKDVEDFITTSFDSQETLSSPPPGLEGKADRSE
KSDGSGFGARLSPGSGGPEAQTAGPVTPASISGRFQPLPEAMKEKEVRPKHVKALLQMVR
DESHQILALSEGLAPPSGEPHPPRKEDEIQDISLHGGKTQEVPTACPDWRGDLLQVVQEA
FEKEQEMQGVELQPRLSGSDLGGHSSLLERLEKIIREQGDLQEKSLEHLRLPDRSSLLSE
IQALRAQLRMTHLQNQEKLQHLRTALTSAEARGSQQEHQLRRQVELLAYKVEQEKCIAGD
LQKTLSEEQEKANSVQKLLAAEQTVVRDLKSDLCESRQKSEQLSRSLCEVQQEVLQLRSM
LSSKENELKAALQELESEQGKGRALQSQLEEEQLRHLQRESQSAKALEELRASLETQRAQ
SSRLCVALKHEQTAKDNLQKELRIEHSRCEALLAQERSQLSELQKDLAAEKSRTLELSEA
LRHERLLTEQLSQRTQEACVHQDTQAHHALLQKLKEEKSRVVDLQAMLEKVQQQALHSQQ
QLEAEAQKHCEALRREKEVSATLKSTVEALHTQKRELRCSLEREREKPAWLQAELEQSHP
RLKEQEGRKAARRSAEARQSPAAAEQWRKWQRDKEKLRELELQRQRDLHKIKQLQQTVRD
LESKDEVPGSRLHLGSARRAAGSDADHLREQQRELEAMRQRLLSAARLLTSFTSQAVDRT
VNDWTSSNEKAVMSLLHTLEELKSDLSRPTSSQKKMAAELQFQFVDVLLKDNVSLTKALS
TVTQEKLELSRAVSKLEKLLKHHLQKGCSPSRSERSAWKPDETAPQSSLRRPDPGRLPPA
ASEEAHTSNVKMEKLYLHYLRAESFRKALIYQKKYLLLLIGGFQDSEQETLSMIAHLGVF
PSKAERKITSRPFTRFRTAVRVVIAILRLRFLVKKWQEVDRKGALAQGKAPRPGPRARQP
QSPPRTRESPPTRDVPSGHTRDPARGRRLAAAASPHSGGRATPSPNSRLERSLTASQDPE
HSLTEYIHHLEVIQQRLGGVLPDSTSKKSCHPMIKQ

Sequence length

3336

Interactions

View interactions

	Reactome
			Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2 Aggrephagy

1740

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Familial cancer of breast	Likely pathogenic	rs369066052	RCV005931986
Melanoma	Likely pathogenic	rs760664460	RCV005912605
Microcephalic osteodysplastic primordial dwarfism type II	Likely pathogenic; Pathogenic	rs760664460, rs746584417, rs2148093265, rs755084205, rs915028258, rs2148115298, rs2147771579, rs2147940284, rs1174601545, rs2146626308, rs587779355, rs2147504920, rs764602074, rs181690344, rs587784302 View all (74 more)	RCV005023124 RCV003147628 RCV001580611 RCV001784805 RCV001784806 RCV001784808 RCV005032740 RCV001784810 RCV003444395 RCV001806300 RCV000115045 RCV001844423 RCV005032007 RCV000147089 RCV000147105 RCV000147141 RCV000147151 RCV000147153 RCV000147209 RCV000147229 RCV000147233 RCV002471877 RCV003485787 RCV002051822 RCV000004968 RCV000004969 RCV000004970 RCV000004971 RCV000004972 RCV000004973 RCV000004975 RCV005025890 RCV000193825 RCV000193571 RCV003237344 RCV002500682 RCV003129566 RCV003135604 RCV003153239 RCV001782766 RCV003326719 RCV003237397 RCV003237398 RCV003237399 RCV003237400 RCV005860373 RCV003405197 RCV003445338 RCV004596597 RCV005030150 RCV005030147 RCV005030200 RCV005030231 RCV005407262 RCV005030295 RCV005038540 RCV004577930 RCV003993700 RCV000023498 RCV000023499 RCV000023500 RCV001261590 RCV000499620 RCV000501524 RCV000503423 RCV000502434 RCV000500174 RCV000501456 RCV000500903 RCV000500360 RCV000501426 RCV003147495 RCV000033163 RCV000601510 RCV000680060 RCV000758566 RCV000761324 RCV001170009 RCV001196169 RCV001253402 RCV001255774 RCV001255760 RCV001374748 RCV001374750 RCV001374751 RCV001263465 RCV001263466 RCV001263464 RCV001265636 RCV005057835
PCNT-related disorder	Pathogenic; Likely pathogenic	rs766116729, rs760423461, rs760664460, rs778163048, rs1450352574, rs1266152010, rs138036524, rs587784312, rs587784320, rs369066052, rs774148938, rs751242426, rs141816832, rs2518620363, rs908769563 View all (8 more)	RCV004741094 RCV003421035 RCV003405627 RCV004739192 RCV003399607 RCV003407952 RCV004728989 RCV004739471 RCV004739473 RCV004741297 RCV004725324 RCV003408302 RCV003427857 RCV003400338 RCV004738809 RCV004738868 RCV004738894 RCV004738891 RCV004738895 RCV004738952 RCV003983338 RCV003942646 RCV003392344 RCV004741169
Sarcoma	Likely pathogenic	rs760664460	RCV005912604
See cases	Likely pathogenic	rs2147678255, rs2146922620	RCV002252801 RCV002252802

Show/Hide Unknown Diseases (26)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs149670973, rs2839219, rs61735818, rs114224027, rs34813667, rs57385578	RCV005911481 RCV005914887 RCV005886752 RCV005888188 RCV005888183 RCV005888193
Adrenocortical carcinoma, hereditary	Benign	rs17371795, rs61735818, rs12481791	RCV005886505 RCV005886754 RCV005886763
Cervical cancer	Likely benign; Benign; Conflicting classifications of pathogenicity	rs149670973, rs12481791, rs200348425, rs182378192	RCV005911482 RCV005886764 RCV005888198 RCV005888204
Cholangiocarcinoma	Benign	rs2839219, rs12481791, rs57385578	RCV005914891 RCV005886776 RCV005888194
Clear cell carcinoma of kidney	Benign	rs12481791	RCV005886765
Colon adenocarcinoma	Benign	rs12481791	RCV005886760
Colorectal cancer	Benign	rs61735818, rs12481791, rs200348425	RCV005886756 RCV005886768 RCV005888200
Gastric cancer	Benign	rs2839219, rs12481791, rs575429540, rs200348425	RCV005914889 RCV005886770 RCV005869727 RCV005888201
Global developmental delay	Conflicting classifications of pathogenicity	rs138962786	RCV000449519
Hepatocellular carcinoma	Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs12481791, rs34813667, rs141860893, rs146657011, rs2249970	RCV005886761 RCV005888184 RCV005899889 RCV005899891 RCV005902293
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity	rs139432601, rs143796569, rs113591604, rs147189224	RCV005625319 RCV001258292 RCV005625382 RCV005625430
Lung cancer	Benign; Likely benign	rs12481791, rs114474454	RCV005886777 RCV005888181
Malignant lymphoma, large B-cell, diffuse	Benign; Uncertain significance	rs12481791, rs575429540, rs200348425, rs374857206, rs2249970	RCV005886767 RCV005869726 RCV005888199 RCV005897517 RCV005902295
Malignant tumor of esophagus	Benign	rs2839219, rs12481791, rs114224027, rs200348425	RCV005914888 RCV005886762 RCV005888189 RCV005888197
Microcephalic osteodysplastic primordial dwarfism	Benign; Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs59957960, rs397802954, rs747401688, rs562568796, rs777390900, rs145379994, rs377311069	RCV000400999 RCV000336290 RCV000281118 RCV000395627 RCV000301127 RCV000345351 RCV000365108 RCV000265949
Microcephaly	Conflicting classifications of pathogenicity; Uncertain significance	rs201315836, rs145119952, rs774856071	RCV001252741 RCV001252742 RCV001252845
Nonpapillary renal cell carcinoma	Benign	rs61735818	RCV005886753
Ovarian serous cystadenocarcinoma	Likely benign; Benign; Uncertain significance	rs149670973, rs12481791, rs143796569, rs34813667, rs200348425, rs141860893	RCV005911484 RCV005886771 RCV005888179 RCV005888185 RCV005888202 RCV005899890
Renal cyst	Benign; Likely benign	rs62224222	RCV005625318
Squamous cell carcinoma of the head and neck	Likely benign	rs375993930	RCV005925601
Thymoma	Likely benign; Benign; Conflicting classifications of pathogenicity	rs149670973, rs61735818, rs12481791, rs114224027, rs34813667, rs182378192, rs143028464	RCV005911485 RCV005886758 RCV005886773 RCV005888191 RCV005888186 RCV005888205 RCV005897516
Thyroid cancer, nonmedullary, 1	Benign	rs12481791	RCV005886774
Uterine carcinosarcoma	Benign; Likely benign	rs17371795, rs2839219, rs61735818, rs12481791, rs143796569	RCV005886506 RCV005914890 RCV005886757 RCV005886772 RCV005888180
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs61735818, rs12481791, rs575429540, rs114224027, rs114474454, rs34813667, rs57385578	RCV005886759 RCV005886778 RCV005869728 RCV005888192 RCV005888182 RCV005888187 RCV005888195
Uveal melanoma	Benign	rs61735818, rs12481791, rs575429540, rs114224027, rs2249970	RCV005886755 RCV005886766 RCV005869725 RCV005888190 RCV005902294
Vascular dementia	Uncertain significance	rs767864228	RCV002051772

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Bipolar Disorder	Associate	19448849
Blast Crisis	Associate	19563513
Breast Neoplasms	Associate	10823944
Carcinogenesis	Associate	37211383
Carcinoma Adenoid Cystic	Associate	34234876
Carcinoma Hepatocellular	Stimulate	37211383
Cerebrovascular Disorders	Associate	30413633, 32367296
Chromosome 21 monosomy	Associate	35361402
Depressive Disorder Major	Associate	19448849
Diabetes Complications	Associate	35806251
Diabetes Mellitus Type 2	Associate	37033211
Down Syndrome	Associate	30205034, 35476505
Fetal Growth Retardation	Associate	32557621
Genetic Diseases Inborn	Associate	31759545, 33494993, 37234811
Growth Disorders	Associate	34284742, 37234811
HEM dysplasia	Associate	34284742
Insulin Resistance	Associate	35806251
Intracranial Aneurysm	Associate	30413633, 37234811
Intracranial Hemorrhages	Associate	30413633
Kidney Diseases	Associate	37234811
Leukemia Lymphocytic Chronic B Cell	Associate	19563513
Lissencephaly	Associate	32557621
Mandibular Diseases	Associate	31311520
Maxillofacial Injuries	Associate	31311520
Microcephalic osteodysplastic primordial dwarfism type 1	Associate	24928221
Microcephalic Osteodysplastic Primordial Dwarfism Type II	Associate	19643772, 20857301, 22693602, 24748105, 24928221, 24973050, 25485589, 30413633, 30804344, 31151966, 31311520, 31510961, 32557621, 33016782, 34016138 View all (7 more)
Microcephaly	Associate	34068194
Multiple Myeloma	Associate	23522059
Neoplasms	Associate	32168958, 37211383
Neurologic Manifestations	Associate	34068194
Osteogenesis imperfecta type 1A	Associate	30413633
Osteolysis	Associate	31311520
Pituitary dwarfism 1	Associate	25485589, 30413633, 39597091
Puberty Precocious	Associate	33016782
Schizophrenia	Associate	19448849
Seckel syndrome 1	Associate	18157127, 19643772, 25485589, 34068194, 39597091
Specific Learning Disorder	Associate	37629793
Subarachnoid Hemorrhage	Associate	30413633
Thoracic Outlet Syndrome	Associate	30413633
Vascular Diseases	Associate	24973050, 30413633

PCNT (pericentrin)