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

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 (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Dyskeratosis congenita	Pathogenic	rs786200999, rs756132866	RCV000162313 RCV000162314	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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 View all (36 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial Interstitial Pneumonia	Pathogenic; Likely pathogenic	rs942538351, rs1970309647, rs1596848231, rs1971361795	RCV001034549 RCV001034546 RCV001034548 RCV001034547	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melanoma	Likely pathogenic; Pathogenic	rs1412358291	RCV005934927	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs2507867198	RCV005934896	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PARN-related disorder	Likely pathogenic	rs1288345334	RCV004552051	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulmonary fibrosis	Likely pathogenic; Pathogenic	rs1288345334, rs2508334817, rs1971042698, rs751381953, rs876661305, rs878853260, rs1412358291, rs942538351, rs1970309647, rs1596848231, rs1971361795, rs1194089098	RCV002509705 RCV002509804 RCV002509812 RCV002509272 RCV002509273 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (33 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous cell lung carcinoma	Likely pathogenic	rs1288345334	RCV005922819	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (15)

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.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOYERAAL-HREIDARSSON SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet CTD, Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARALYTIC STRABISMUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary ciliary dyskinesia 20	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 4	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Telomere syndrome	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Show/Hide Text Mining Associations (94)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute leukemia	Leukemia	BEFREE	22614729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	22614729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22614729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anonychia congenita	Anonychia	Pubtator	26810774	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	40438983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	28011629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	26541675	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral cortical atrophy	Cerebral cortical atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	22614729		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	27540018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	30831151		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	25893598, 25893599, 26342108, 26482878, 28402503, 28760775, 30770239		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	25893598, 25893599, 26482878, 28402503, 28760775, 30728146, 30770239, 30930056, 31448843, 32452087, 32559291, 36018809	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskeratosis Congenita	Dyskeratosis Congenita	ORPHANET_DG	25893599		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskeratosis congenita	Dyskeratosis Congenita	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskeratosis Congenita	Dyskeratosis Congenita	GENOMICS_ENGLAND_DG	28297620		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskeratosis Congenita	Dyskeratosis Congenita	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6	Dyskeratosis Congenita	GENOMICS_ENGLAND_DG	25848748, 25893599, 26342108		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6	Dyskeratosis Congenita	UNIPROT_DG	25893599		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6	Dyskeratosis Congenita	CLINVAR_DG	31448843		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6	Dyskeratosis Congenita	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dystrophia unguium	Nail dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Stenosis	Esophageal Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	25848748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26482878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	29204651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	26342108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamman-Rich Disease	Diffuse interstitial pulmonary fibrosis	CTD_human_DG	25848748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	ORPHANET_DG	25848748		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	BEFREE	27540018		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	31273937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Honeycomb lung	Honeycomb lung	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hoyeraal Hreidarsson syndrome	Hoyeraal hreidarsson syndrome	Pubtator	26810774, 31448843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	ORPHANET_DG	25893599		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hoyeraal-Hreidarsson syndrome	Hoyeraal-Hreidarsson Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	BEFREE	26810774, 31448843		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	25848748		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	ORPHANET_DG	25848748		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	25848748, 26482878, 28099038, 29529386, 31448843, 31910222	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic pulmonary fibrosis	Pulmonary Fibrosis	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26482878, 27540018, 27630174, 28099038, 31448843		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	28391039		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	40438983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	28495692	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26541675	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	28011629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	15320962, 28266278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22834816, 25049417, 29670107, 31749682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	26342108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	12386293, 15980667, 28901317, 8084583, 8609050, 9862417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31749682		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	28104757, 28500669, 8084583, 9324305, 9500977, 9862417		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	28901317		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	15320962, 28266278		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	26342108		★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26482878, 27540018, 28402503, 29529386, 30978332		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	28402503, 30930056	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4	Pulmonary fibrosis and/or bone marrow failure	UNIPROT_DG	25848748		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4	Pulmonary fibrosis and/or bone marrow failure	GENOMICS_ENGLAND_DG	25848748, 25893599, 26116823, 26342108		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4	Pulmonary fibrosis and/or bone marrow failure	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4	Pulmonary fibrosis and/or bone marrow failure	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Renal fibrosis	Renal fibrosis	BEFREE	29204651		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	26541675		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25499764	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	25893598, 26482878, 27482890, 29204651, 40438983	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	28974936		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Dyskeratosis Congenita	Dyskeratosis Congenita, X-Linked	BEFREE	26810774, 31448843		★★★★★ ★☆☆☆☆ Found in Text Mining only

PARN (poly(A)-specific ribonuclease)