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	5073
Gene name	Poly(A)-specific ribonuclease
Gene symbol	PARN
Synonyms (NCBI Gene)	DANDKCB6PFBMFT4
Chromosome	16
Chromosome location	16p13.12
Summary	The protein encoded by this gene is a 3`-exoribonuclease, with similarity to the RNase D family of 3`-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is

Show/Hide all (17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs201765587	T>A,C	Uncertain-significance, pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, intron variant, non coding transcript variant
rs751381953	T>C	Pathogenic	Splice acceptor variant, upstream transcript variant, genic upstream transcript variant, intron variant
rs754368658	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs756132866	C>A	Pathogenic	Splice donor variant, intron variant
rs757910862	T>C	Likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant, non coding transcript variant
rs759131762	ACTT>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, splice donor variant, intron variant
rs777090017	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs778324179	T>C,G	Likely-pathogenic	Missense variant, upstream transcript variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, intron variant
rs786200999	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs786201001	->T	Pathogenic	Coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs876661305	G>A	Pathogenic	Stop gained, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs878853260	->A	Pathogenic	Frameshift variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant
rs942538351	A>-,AA	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, stop gained
rs1064796768	T>A	Pathogenic	Non coding transcript variant, genic upstream transcript variant, stop gained, 5 prime UTR variant, coding sequence variant, intron variant, upstream transcript variant
rs1461036243	AT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1555512179	A>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant, 5 prime UTR variant
rs1596812454	->TGATTTCTAGACTCTAGAAA	Pathogenic	Inframe insertion, non coding transcript variant, coding sequence variant, stop gained

180

Show/Hide all (180)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022591	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT024604	hsa-miR-215-5p	Microarray	19074876
MIRT026386	hsa-miR-192-5p	Microarray	19074876
MIRT608662	hsa-miR-8485	HITS-CLIP	23313552
MIRT608661	hsa-miR-377-3p	HITS-CLIP	23313552
MIRT608662	hsa-miR-8485	HITS-CLIP	23313552
MIRT608661	hsa-miR-377-3p	HITS-CLIP	23313552
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608661	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608661	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT674154	hsa-miR-507	HITS-CLIP	23824327
MIRT674153	hsa-miR-557	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608662	hsa-miR-8485	HITS-CLIP	24906430
MIRT608661	hsa-miR-377-3p	HITS-CLIP	24906430
MIRT608661	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT608661	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT608661	hsa-miR-377-3p	HITS-CLIP	27418678
MIRT674154	hsa-miR-507	HITS-CLIP	27418678
MIRT615293	hsa-miR-521	HITS-CLIP	27418678
MIRT674153	hsa-miR-557	HITS-CLIP	27418678
MIRT576623	hsa-miR-8485	HITS-CLIP	27418678
MIRT576623	hsa-miR-8485	HITS-CLIP	27418678
MIRT576623	hsa-miR-8485	HITS-CLIP	27418678
MIRT576623	hsa-miR-8485	HITS-CLIP	23313552
MIRT608661	hsa-miR-377-3p	HITS-CLIP	23313552
MIRT576623	hsa-miR-8485	HITS-CLIP	23313552
MIRT608661	hsa-miR-377-3p	HITS-CLIP	23313552
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608661	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT608661	hsa-miR-377-3p	HITS-CLIP	23824327
MIRT674154	hsa-miR-507	HITS-CLIP	23824327
MIRT674153	hsa-miR-557	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT576623	hsa-miR-8485	HITS-CLIP	23824327
MIRT615293	hsa-miR-521	HITS-CLIP	23824327
MIRT1214325	hsa-miR-1302	CLIP-seq
MIRT1214326	hsa-miR-1587	CLIP-seq
MIRT1214327	hsa-miR-3613-5p	CLIP-seq
MIRT1214328	hsa-miR-4298	CLIP-seq
MIRT1214329	hsa-miR-4492	CLIP-seq
MIRT1214330	hsa-miR-4498	CLIP-seq
MIRT1214331	hsa-miR-4505	CLIP-seq
MIRT1214332	hsa-miR-4656	CLIP-seq
MIRT1214333	hsa-miR-4675	CLIP-seq
MIRT1214334	hsa-miR-4713-5p	CLIP-seq
MIRT1214335	hsa-miR-4741	CLIP-seq
MIRT1214336	hsa-miR-548aa	CLIP-seq
MIRT1214337	hsa-miR-649	CLIP-seq
MIRT1214338	hsa-miR-762	CLIP-seq
MIRT1214339	hsa-miR-1202	CLIP-seq
MIRT1214340	hsa-miR-1227	CLIP-seq
MIRT1214341	hsa-miR-1299	CLIP-seq
MIRT1214325	hsa-miR-1302	CLIP-seq
MIRT1214342	hsa-miR-1305	CLIP-seq
MIRT1214326	hsa-miR-1587	CLIP-seq
MIRT1214343	hsa-miR-2115	CLIP-seq
MIRT1214344	hsa-miR-3194-5p	CLIP-seq
MIRT1214345	hsa-miR-3609	CLIP-seq
MIRT1214327	hsa-miR-3613-5p	CLIP-seq
MIRT1214346	hsa-miR-3674	CLIP-seq
MIRT1214347	hsa-miR-377	CLIP-seq
MIRT1214348	hsa-miR-3935	CLIP-seq
MIRT1214349	hsa-miR-3972	CLIP-seq
MIRT1214350	hsa-miR-3978	CLIP-seq
MIRT1214328	hsa-miR-4298	CLIP-seq
MIRT1214329	hsa-miR-4492	CLIP-seq
MIRT1214330	hsa-miR-4498	CLIP-seq
MIRT1214331	hsa-miR-4505	CLIP-seq
MIRT1214351	hsa-miR-4511	CLIP-seq
MIRT1214352	hsa-miR-4522	CLIP-seq
MIRT1214353	hsa-miR-455-5p	CLIP-seq
MIRT1214332	hsa-miR-4656	CLIP-seq
MIRT1214354	hsa-miR-4670-3p	CLIP-seq
MIRT1214333	hsa-miR-4675	CLIP-seq
MIRT1214355	hsa-miR-4679	CLIP-seq
MIRT1214335	hsa-miR-4741	CLIP-seq
MIRT1214356	hsa-miR-4773	CLIP-seq
MIRT1214357	hsa-miR-548ah	CLIP-seq
MIRT1214358	hsa-miR-548b-3p	CLIP-seq
MIRT1214338	hsa-miR-762	CLIP-seq
MIRT1214359	hsa-miR-875-3p	CLIP-seq
MIRT1214360	hsa-miR-95	CLIP-seq
MIRT2061647	hsa-miR-2116	CLIP-seq
MIRT2061648	hsa-miR-2682	CLIP-seq
MIRT2061649	hsa-miR-361-3p	CLIP-seq
MIRT1214347	hsa-miR-377	CLIP-seq
MIRT2061650	hsa-miR-421	CLIP-seq
MIRT2061651	hsa-miR-4269	CLIP-seq
MIRT2061652	hsa-miR-449c	CLIP-seq
MIRT2061653	hsa-miR-4503	CLIP-seq
MIRT2061654	hsa-miR-4514	CLIP-seq
MIRT2061655	hsa-miR-4636	CLIP-seq
MIRT2061656	hsa-miR-4692	CLIP-seq
MIRT2061657	hsa-miR-4709-5p	CLIP-seq
MIRT2061658	hsa-miR-4736	CLIP-seq
MIRT2061659	hsa-miR-4742-5p	CLIP-seq
MIRT2061660	hsa-miR-4760-5p	CLIP-seq
MIRT2061661	hsa-miR-4798-3p	CLIP-seq
MIRT2061662	hsa-miR-505	CLIP-seq
MIRT2061663	hsa-miR-539	CLIP-seq
MIRT2061664	hsa-miR-657	CLIP-seq
MIRT2061665	hsa-miR-940	CLIP-seq
MIRT2290026	hsa-miR-3148	CLIP-seq
MIRT1214347	hsa-miR-377	CLIP-seq
MIRT2290027	hsa-miR-4420	CLIP-seq
MIRT2061653	hsa-miR-4503	CLIP-seq
MIRT2290028	hsa-miR-4668-5p	CLIP-seq
MIRT1214347	hsa-miR-377	CLIP-seq
MIRT1214341	hsa-miR-1299	CLIP-seq
MIRT1214345	hsa-miR-3609	CLIP-seq
MIRT2061649	hsa-miR-361-3p	CLIP-seq
MIRT1214350	hsa-miR-3978	CLIP-seq
MIRT1214351	hsa-miR-4511	CLIP-seq
MIRT1214352	hsa-miR-4522	CLIP-seq
MIRT2061655	hsa-miR-4636	CLIP-seq
MIRT1214354	hsa-miR-4670-3p	CLIP-seq
MIRT2588048	hsa-miR-4740-3p	CLIP-seq
MIRT1214356	hsa-miR-4773	CLIP-seq
MIRT2588049	hsa-miR-495	CLIP-seq
MIRT2061663	hsa-miR-539	CLIP-seq
MIRT1214357	hsa-miR-548ah	CLIP-seq
MIRT1214358	hsa-miR-548b-3p	CLIP-seq
MIRT1214359	hsa-miR-875-3p	CLIP-seq
MIRT1214341	hsa-miR-1299	CLIP-seq
MIRT1214345	hsa-miR-3609	CLIP-seq
MIRT1214350	hsa-miR-3978	CLIP-seq
MIRT1214351	hsa-miR-4511	CLIP-seq
MIRT1214352	hsa-miR-4522	CLIP-seq
MIRT1214354	hsa-miR-4670-3p	CLIP-seq
MIRT2588048	hsa-miR-4740-3p	CLIP-seq
MIRT1214356	hsa-miR-4773	CLIP-seq
MIRT2588049	hsa-miR-495	CLIP-seq
MIRT1214357	hsa-miR-548ah	CLIP-seq
MIRT1214358	hsa-miR-548b-3p	CLIP-seq
MIRT1214359	hsa-miR-875-3p	CLIP-seq

Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000175	Function	3'-5'-RNA exonuclease activity	IBA
GO:0000184	Process	Nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	IEA
GO:0000289	Process	Nuclear-transcribed mRNA poly(A) tail shortening	IBA
GO:0000495	Process	Box H/ACA sno(s)RNA 3'-end processing	IDA	22442037
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IBA
GO:0003723	Function	RNA binding	IEA
GO:0003730	Function	MRNA 3'-UTR binding	TAS	9736620
GO:0004518	Function	Nuclease activity	IEA
GO:0004518	Function	Nuclease activity	TAS	9736620
GO:0004527	Function	Exonuclease activity	IEA
GO:0004535	Function	Poly(A)-specific ribonuclease activity	IDA	25049417
GO:0004535	Function	Poly(A)-specific ribonuclease activity	IEA
GO:0004535	Function	Poly(A)-specific ribonuclease activity	IMP	26482878, 26950371
GO:0005515	Function	Protein binding	IPI	14731398, 20379136, 21876179
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9736620
GO:0005730	Component	Nucleolus	IDA	22442037
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9736620
GO:0005829	Component	Cytosol	TAS
GO:0006401	Process	RNA catabolic process	IEA
GO:0006402	Process	MRNA catabolic process	IEA
GO:0007292	Process	Female gamete generation	TAS	9736620
GO:0009451	Process	RNA modification	TAS	9736620
GO:0010587	Process	MiRNA catabolic process	IDA	25049417
GO:0010604	Process	Positive regulation of macromolecule metabolic process	IEA
GO:0010605	Process	Negative regulation of macromolecule metabolic process	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019901	Function	Protein kinase binding	IPI	20932473
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IMP	26482878, 26950371
GO:0043169	Function	Cation binding	IMP	15358788
GO:0043487	Process	Regulation of RNA stability	IEA
GO:0045935	Process	Positive regulation of nucleobase-containing compound metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070034	Function	Telomerase RNA binding	IPI	26482878, 26950371
GO:0071051	Process	Poly(A)-dependent snoRNA 3'-end processing	IDA	22442037
GO:0090669	Process	Telomerase RNA stabilization	IMP	26482878, 26950371
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0180035	Process	LncRNA processing	IMP	26482878, 26950371
GO:1904872	Process	Regulation of telomerase RNA localization to Cajal body	IMP	26950371
GO:1990431	Process	PriRNA 3'-end processing	IBA
GO:1990432	Process	SiRNA 3'-end processing	IBA

MIM	HGNC	e!Ensembl
604212	8609	ENSG00000140694

O95453

Protein name

Poly(A)-specific ribonuclease PARN (EC 3.1.13.4) (Deadenylating nuclease) (Deadenylation nuclease) (Polyadenylate-specific ribonuclease)

Protein function

3'-exoribonuclease that has a preference for poly(A) tails of mRNAs, thereby efficiently degrading poly(A) tails. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs and is also used to silence

PDB

2A1R , 2A1S , 3CTR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04857	CAF1	3 → 390	CAF1 family ribonuclease	Family
PF08675	RNA_bind	437 → 515	RNA binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. {ECO:0000269|PubMed:10640832, ECO:0000269|PubMed:9736620}.

Sequence

MEIIRSNFKSNLHKVYQAIEEADFFAIDGEFSGISDGPSVSALTNGFDTPEERYQKLKKH
SMDFLLFQFGLCTFKYDYTDSKYITKSFNFYVFPKPFNRSSPDVKFVCQSSSIDFLASQG
FDFNKVFRNGIPYLNQEEERQLREQYDEKRSQANGAGALSYVSPNTSKCPVTIPEDQKKF
IDQVVEKIEDLLQSEENKNLDLEPCTGFQRKLIYQTLSWKYPKGIHVETLETEKKERYIV
ISKVDEEERKRREQQKHAKEQEELNDAVGFSRVIHAIANSGKLVIGHNMLLDVMHTVHQF
YCPLPADLSEFKEMTTCVFPRLLDTKLMASTQPFKDIINNTSLAELEKRLKETPFNPPKV
ESAEGFPSYDTASEQLHEAGYDAYITGLCFISMANYLGSFLSPPKIHVSARSKLIEPFFN
KLFLMRVMDIPYLNLEGPDLQPKRDHVLHVTFPKEWKTSDLYQLFSAFGNIQISWIDDTS
AFVSLSQPEQVKIAVNTSKYAESYRIQTYAEYMGRKQEEKQIKRKWTEDSWKEADSKRLN
PQCIPYTLQNHYYRNNSFTAPSTVGKRNLSPSQEEAGLEDGVSGEISDTELEQTDSCAEP
LSEGRKKAKKLKRMKKELSPAGSISKNSPATLFEVPDTW

Sequence length

639

Interactions

View interactions

	KEGG		Reactome
	RNA degradation		ATF4 activates genes in response to endoplasmic reticulum stress Deadenylation of mRNA KSRP (KHSRP) binds and destabilizes mRNA

1444

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dyskeratosis congenita	Pathogenic	rs786200999, rs756132866	RCV000162313 RCV000162314
Dyskeratosis congenita, autosomal recessive 6	Pathogenic; Likely pathogenic	rs1318821563, rs2151797695, rs2151795442, rs2151767204, rs745696590, rs1380270401, rs1288345334, rs2151711045, rs2151787383, rs786200999, rs756132866, rs786201001, rs876661305, rs878853260, rs2508639104 View all (25 more)	RCV002037633 RCV001951972 RCV001976115 RCV002022603 RCV001927466 RCV002007342 RCV002037301 RCV002025124 RCV002208762 RCV000170484 RCV000170485 RCV000170486 RCV003765062 RCV000701508 RCV002675624 RCV002717339 RCV002814926 RCV002816478 RCV002863721 RCV002872509 RCV003059635 RCV003782353 RCV003796508 RCV003807917 RCV003804035 RCV003801598 RCV003800767 RCV003802047 RCV004555201 RCV000503489 RCV000500095 RCV000850489 RCV000989538 RCV001862463 RCV005213449 RCV001036703 RCV001063256 RCV001201968 RCV001216287 RCV001229492 RCV001879932
Familial Interstitial Pneumonia	Pathogenic; Likely pathogenic	rs942538351, rs1970309647, rs1596848231, rs1971361795	RCV001034549 RCV001034546 RCV001034548 RCV001034547
Melanoma	Likely pathogenic; Pathogenic	rs1412358291	RCV005934927
Nonpapillary renal cell carcinoma	Likely pathogenic	rs2507867198	RCV005934896
PARN-related disorder	Likely pathogenic	rs1288345334	RCV004552051
Pulmonary fibrosis	Likely pathogenic; Pathogenic	rs1288345334, rs2508334817, rs1971042698, rs751381953, rs876661305, rs878853260, rs1412358291, rs942538351, rs1970309647, rs1596848231, rs1971361795, rs1194089098	RCV002509705 RCV002509804 RCV002509812 RCV002509272 RCV002509273 RCV002509274 RCV005626863 RCV001034549 RCV001034546 RCV001034548 RCV001034547 RCV002509642
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4	Pathogenic; Likely pathogenic	rs1318821563, rs2151797695, rs2151795442, rs2151767204, rs745696590, rs1380270401, rs1288345334, rs2151711045, rs2151787383, rs751381953, rs876661305, rs878853260, rs2508639104, rs2508495416, rs751946182 View all (23 more)	RCV002037633 RCV001951972 RCV001976115 RCV002022603 RCV001927466 RCV002007342 RCV002037301 RCV002025124 RCV002208762 RCV000170589 RCV000170590 RCV000170591 RCV002675624 RCV002717339 RCV002814926 RCV002816478 RCV002863721 RCV002872509 RCV003059635 RCV003782353 RCV003796508 RCV003807917 RCV003804035 RCV003801598 RCV003800767 RCV003802047 RCV004017194 RCV005225184 RCV001862463 RCV003992433 RCV001036703 RCV001063256 RCV001090051 RCV001201968 RCV001216287 RCV001229492 RCV001249471 RCV001255170
Squamous cell lung carcinoma	Likely pathogenic	rs1288345334	RCV005922819

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Uncertain significance; Benign	rs200026431, rs59687658	RCV005924180 RCV005899887
Clear cell carcinoma of kidney	Benign; Likely benign	rs182460499	RCV005900379
Gastric cancer	Benign	rs59687658	RCV005899888
Lung cancer	Likely benign	rs779459015	RCV005909104
Malignant tumor of esophagus	Benign	rs59687658	RCV005899886
Ovarian serous cystadenocarcinoma	Benign; Likely benign	rs182460499	RCV005900381
Primary ciliary dyskinesia 20	Conflicting classifications of pathogenicity	rs200103366	RCV005863248
Sarcoma	Benign; Likely benign	rs182460499	RCV005900380
Telomere syndrome	Uncertain significance; Conflicting classifications of pathogenicity	rs2151826881, rs754368658	RCV003325412 RCV003325405

Show/Hide Text Mining Associations (21)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anonychia congenita	Associate	26810774
Bone Marrow Failure Disorders	Associate	40438983
Carcinoma Squamous Cell	Associate	26541675
Disease	Associate	25049417, 31448843
Dyskeratosis Congenita	Associate	25893598, 25893599, 26482878, 28402503, 28760775, 30728146, 30770239, 30930056, 31448843, 32452087, 32559291, 36018809
Fibrosis	Associate	29204651
Genetic Diseases Inborn	Associate	30770239
Hoyeraal Hreidarsson syndrome	Associate	26810774, 31448843
Idiopathic Pulmonary Fibrosis	Associate	25848748, 26482878, 28099038, 29529386, 31448843, 31910222
Immunologic Deficiency Syndromes	Associate	27482890
Lung Diseases	Associate	40438983
Lung Diseases Interstitial	Stimulate	28495692
Lung Neoplasms	Associate	26541675
Nail dysplasia isolated congenital	Associate	26810774
Neoplasms	Associate	25049417, 26400160, 26541675, 35092390
Neoplasms Squamous Cell	Associate	26541675
Primary Myelofibrosis	Associate	29204651
Pulmonary Fibrosis	Associate	28402503, 30930056
Renal Insufficiency Chronic	Associate	29204651
Stomach Neoplasms	Associate	25499764
Telomeric 22q13 Monosomy Syndrome	Associate	25893598, 26482878, 27482890, 29204651, 40438983

PARN (poly(A)-specific ribonuclease)