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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	65083
Gene name	Nucleolar protein 6
Gene symbol	NOL6
Synonyms (NCBI Gene)	NRAPUTP22bA311H10.1
Chromosome	9
Chromosome location	9p13.3
Summary	The nucleolus is a dense subnuclear membraneless organelle that assembles around clusters of rRNA genes and functions in ribosome biogenesis. This gene encodes a nucleolar RNA-associated protein that is highly conserved between species. RNase treatment of

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Show/Hide all (281)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032331	hsa-let-7b-5p	Proteomics	18668040
MIRT041565	hsa-miR-193b-3p	CLASH	23622248
MIRT040840	hsa-miR-18a-3p	CLASH	23622248
MIRT734557	hsa-miR-590-3p	Western blottingFlow cytometry	32249364
MIRT1188627	hsa-miR-4292	CLIP-seq
MIRT1188628	hsa-miR-4642	CLIP-seq
MIRT1188629	hsa-miR-4646-5p	CLIP-seq
MIRT1188630	hsa-miR-4747-5p	CLIP-seq
MIRT1188631	hsa-miR-4795-5p	CLIP-seq
MIRT1188632	hsa-miR-1200	CLIP-seq
MIRT1188633	hsa-miR-1321	CLIP-seq
MIRT1188634	hsa-miR-134	CLIP-seq
MIRT1188635	hsa-miR-1915	CLIP-seq
MIRT1188636	hsa-miR-1976	CLIP-seq
MIRT1188637	hsa-miR-3118	CLIP-seq
MIRT1188638	hsa-miR-3154	CLIP-seq
MIRT1188639	hsa-miR-3164	CLIP-seq
MIRT1188640	hsa-miR-3670	CLIP-seq
MIRT1188641	hsa-miR-3975	CLIP-seq
MIRT1188642	hsa-miR-4252	CLIP-seq
MIRT1188643	hsa-miR-4270	CLIP-seq
MIRT1188644	hsa-miR-4279	CLIP-seq
MIRT1188645	hsa-miR-4302	CLIP-seq
MIRT1188646	hsa-miR-4324	CLIP-seq
MIRT1188647	hsa-miR-4441	CLIP-seq
MIRT1188648	hsa-miR-4455	CLIP-seq
MIRT1188649	hsa-miR-4484	CLIP-seq
MIRT1188650	hsa-miR-4494	CLIP-seq
MIRT1188651	hsa-miR-4499	CLIP-seq
MIRT1188652	hsa-miR-4501	CLIP-seq
MIRT1188653	hsa-miR-4509	CLIP-seq
MIRT1188654	hsa-miR-4633-5p	CLIP-seq
MIRT1188655	hsa-miR-4645-5p	CLIP-seq
MIRT1188656	hsa-miR-4673	CLIP-seq
MIRT1188657	hsa-miR-4685-5p	CLIP-seq
MIRT1188658	hsa-miR-4700-3p	CLIP-seq
MIRT1188659	hsa-miR-4722-3p	CLIP-seq
MIRT1188660	hsa-miR-4739	CLIP-seq
MIRT1188661	hsa-miR-4744	CLIP-seq
MIRT1188662	hsa-miR-4756-5p	CLIP-seq
MIRT1188663	hsa-miR-4763-5p	CLIP-seq
MIRT1188664	hsa-miR-4766-5p	CLIP-seq
MIRT1188665	hsa-miR-4796-3p	CLIP-seq
MIRT1188666	hsa-miR-488	CLIP-seq
MIRT1188667	hsa-miR-491-3p	CLIP-seq
MIRT1188668	hsa-miR-5095	CLIP-seq
MIRT1188669	hsa-miR-544b	CLIP-seq
MIRT1188670	hsa-miR-548an	CLIP-seq
MIRT1188671	hsa-miR-550a	CLIP-seq
MIRT1188672	hsa-miR-609	CLIP-seq
MIRT1188673	hsa-miR-639	CLIP-seq
MIRT1188674	hsa-miR-892a	CLIP-seq
MIRT2054589	hsa-miR-1264	CLIP-seq
MIRT2054590	hsa-miR-1299	CLIP-seq
MIRT2054591	hsa-miR-150	CLIP-seq
MIRT1188635	hsa-miR-1915	CLIP-seq
MIRT2054592	hsa-miR-214	CLIP-seq
MIRT2054593	hsa-miR-3117-5p	CLIP-seq
MIRT2054594	hsa-miR-3127-3p	CLIP-seq
MIRT2054595	hsa-miR-3160-3p	CLIP-seq
MIRT2054596	hsa-miR-3173-3p	CLIP-seq
MIRT2054597	hsa-miR-3179	CLIP-seq
MIRT2054598	hsa-miR-3619-5p	CLIP-seq
MIRT2054599	hsa-miR-3622a-5p	CLIP-seq
MIRT2054600	hsa-miR-3943	CLIP-seq
MIRT2054601	hsa-miR-4253	CLIP-seq
MIRT2054602	hsa-miR-4269	CLIP-seq
MIRT2054603	hsa-miR-4323	CLIP-seq
MIRT2054604	hsa-miR-4418	CLIP-seq
MIRT2054605	hsa-miR-4423-3p	CLIP-seq
MIRT2054606	hsa-miR-4428	CLIP-seq
MIRT2054607	hsa-miR-4476	CLIP-seq
MIRT2054608	hsa-miR-4487	CLIP-seq
MIRT2054609	hsa-miR-4533	CLIP-seq
MIRT2054610	hsa-miR-4639-5p	CLIP-seq
MIRT1188655	hsa-miR-4645-5p	CLIP-seq
MIRT1188656	hsa-miR-4673	CLIP-seq
MIRT2054611	hsa-miR-4713-5p	CLIP-seq
MIRT2054612	hsa-miR-4726-3p	CLIP-seq
MIRT2054613	hsa-miR-4761-3p	CLIP-seq
MIRT2054614	hsa-miR-509-3-5p	CLIP-seq
MIRT2054615	hsa-miR-509-5p	CLIP-seq
MIRT2054616	hsa-miR-532-3p	CLIP-seq
MIRT2054617	hsa-miR-558	CLIP-seq
MIRT2054618	hsa-miR-627	CLIP-seq
MIRT2054619	hsa-miR-645	CLIP-seq
MIRT2054620	hsa-miR-761	CLIP-seq
MIRT2054621	hsa-miR-875-3p	CLIP-seq
MIRT2054622	hsa-miR-885-3p	CLIP-seq
MIRT2054623	hsa-miR-924	CLIP-seq
MIRT2054624	hsa-miR-942	CLIP-seq
MIRT2054589	hsa-miR-1264	CLIP-seq
MIRT2283734	hsa-miR-129-5p	CLIP-seq
MIRT2283735	hsa-miR-1301	CLIP-seq
MIRT2283736	hsa-miR-1324	CLIP-seq
MIRT2054591	hsa-miR-150	CLIP-seq
MIRT2283737	hsa-miR-1825	CLIP-seq
MIRT1188635	hsa-miR-1915	CLIP-seq
MIRT2283738	hsa-miR-1972	CLIP-seq
MIRT2054592	hsa-miR-214	CLIP-seq
MIRT2054593	hsa-miR-3117-5p	CLIP-seq
MIRT2283739	hsa-miR-3140-3p	CLIP-seq
MIRT2283740	hsa-miR-3166	CLIP-seq
MIRT2054596	hsa-miR-3173-3p	CLIP-seq
MIRT2054597	hsa-miR-3179	CLIP-seq
MIRT2283741	hsa-miR-361-3p	CLIP-seq
MIRT2054598	hsa-miR-3619-5p	CLIP-seq
MIRT2054599	hsa-miR-3622a-5p	CLIP-seq
MIRT2054600	hsa-miR-3943	CLIP-seq
MIRT2054602	hsa-miR-4269	CLIP-seq
MIRT1188627	hsa-miR-4292	CLIP-seq
MIRT2054603	hsa-miR-4323	CLIP-seq
MIRT2054604	hsa-miR-4418	CLIP-seq
MIRT2054605	hsa-miR-4423-3p	CLIP-seq
MIRT2054606	hsa-miR-4428	CLIP-seq
MIRT2054607	hsa-miR-4476	CLIP-seq
MIRT1188651	hsa-miR-4499	CLIP-seq
MIRT2283742	hsa-miR-450b-5p	CLIP-seq
MIRT2054609	hsa-miR-4533	CLIP-seq
MIRT1188655	hsa-miR-4645-5p	CLIP-seq
MIRT2283743	hsa-miR-4660	CLIP-seq
MIRT1188656	hsa-miR-4673	CLIP-seq
MIRT2283744	hsa-miR-4688	CLIP-seq
MIRT2054611	hsa-miR-4713-5p	CLIP-seq
MIRT2054612	hsa-miR-4726-3p	CLIP-seq
MIRT2054613	hsa-miR-4761-3p	CLIP-seq
MIRT1188664	hsa-miR-4766-5p	CLIP-seq
MIRT2283745	hsa-miR-486-3p	CLIP-seq
MIRT1188666	hsa-miR-488	CLIP-seq
MIRT2283746	hsa-miR-5047	CLIP-seq
MIRT2283747	hsa-miR-507	CLIP-seq
MIRT2054614	hsa-miR-509-3-5p	CLIP-seq
MIRT2054615	hsa-miR-509-5p	CLIP-seq
MIRT2283748	hsa-miR-515-5p	CLIP-seq
MIRT2283749	hsa-miR-520f	CLIP-seq
MIRT2054616	hsa-miR-532-3p	CLIP-seq
MIRT2283750	hsa-miR-557	CLIP-seq
MIRT2054619	hsa-miR-645	CLIP-seq
MIRT2054620	hsa-miR-761	CLIP-seq
MIRT2054622	hsa-miR-885-3p	CLIP-seq
MIRT2054589	hsa-miR-1264	CLIP-seq
MIRT2054593	hsa-miR-3117-5p	CLIP-seq
MIRT2054597	hsa-miR-3179	CLIP-seq
MIRT2054599	hsa-miR-3622a-5p	CLIP-seq
MIRT2054601	hsa-miR-4253	CLIP-seq
MIRT2054604	hsa-miR-4418	CLIP-seq
MIRT2054605	hsa-miR-4423-3p	CLIP-seq
MIRT2054610	hsa-miR-4639-5p	CLIP-seq
MIRT2054613	hsa-miR-4761-3p	CLIP-seq
MIRT2054614	hsa-miR-509-3-5p	CLIP-seq
MIRT2054615	hsa-miR-509-5p	CLIP-seq
MIRT2054619	hsa-miR-645	CLIP-seq
MIRT2455296	hsa-miR-4640-5p	CLIP-seq
MIRT2455297	hsa-miR-4726-5p	CLIP-seq
MIRT2455298	hsa-miR-4768-3p	CLIP-seq
MIRT2455299	hsa-miR-4802-3p	CLIP-seq
MIRT2455300	hsa-miR-665	CLIP-seq
MIRT2455296	hsa-miR-4640-5p	CLIP-seq
MIRT2455297	hsa-miR-4726-5p	CLIP-seq
MIRT2455298	hsa-miR-4768-3p	CLIP-seq
MIRT2455299	hsa-miR-4802-3p	CLIP-seq
MIRT2455300	hsa-miR-665	CLIP-seq
MIRT2581867	hsa-miR-103a	CLIP-seq
MIRT2581868	hsa-miR-107	CLIP-seq
MIRT2581869	hsa-miR-1179	CLIP-seq
MIRT2054589	hsa-miR-1264	CLIP-seq
MIRT2581870	hsa-miR-1291	CLIP-seq
MIRT2581871	hsa-miR-1343	CLIP-seq
MIRT2054591	hsa-miR-150	CLIP-seq
MIRT2581872	hsa-miR-1827	CLIP-seq
MIRT2054592	hsa-miR-214	CLIP-seq
MIRT2581873	hsa-miR-296-5p	CLIP-seq
MIRT2054593	hsa-miR-3117-5p	CLIP-seq
MIRT2581874	hsa-miR-3147	CLIP-seq
MIRT2581875	hsa-miR-3150a-3p	CLIP-seq
MIRT2054596	hsa-miR-3173-3p	CLIP-seq
MIRT2581876	hsa-miR-3175	CLIP-seq
MIRT2054597	hsa-miR-3179	CLIP-seq
MIRT2581877	hsa-miR-3189-3p	CLIP-seq
MIRT2581878	hsa-miR-3192	CLIP-seq
MIRT2581879	hsa-miR-3612	CLIP-seq
MIRT2054598	hsa-miR-3619-5p	CLIP-seq
MIRT2054599	hsa-miR-3622a-5p	CLIP-seq
MIRT2581880	hsa-miR-3913-3p	CLIP-seq
MIRT2054601	hsa-miR-4253	CLIP-seq
MIRT1188644	hsa-miR-4279	CLIP-seq
MIRT1188627	hsa-miR-4292	CLIP-seq
MIRT2581881	hsa-miR-4300	CLIP-seq
MIRT2581882	hsa-miR-4310	CLIP-seq
MIRT2054604	hsa-miR-4418	CLIP-seq
MIRT2054605	hsa-miR-4423-3p	CLIP-seq
MIRT2581883	hsa-miR-4425	CLIP-seq
MIRT2054606	hsa-miR-4428	CLIP-seq
MIRT2054607	hsa-miR-4476	CLIP-seq
MIRT2581884	hsa-miR-450b-3p	CLIP-seq
MIRT2054609	hsa-miR-4533	CLIP-seq
MIRT2054610	hsa-miR-4639-5p	CLIP-seq
MIRT2581885	hsa-miR-4667-5p	CLIP-seq
MIRT2581886	hsa-miR-4695-5p	CLIP-seq
MIRT2581887	hsa-miR-4700-5p	CLIP-seq
MIRT2054611	hsa-miR-4713-5p	CLIP-seq
MIRT2054613	hsa-miR-4761-3p	CLIP-seq
MIRT1188666	hsa-miR-488	CLIP-seq
MIRT2581888	hsa-miR-489	CLIP-seq
MIRT2054614	hsa-miR-509-3-5p	CLIP-seq
MIRT2054615	hsa-miR-509-5p	CLIP-seq
MIRT2581889	hsa-miR-518d-5p	CLIP-seq
MIRT2581890	hsa-miR-519b-5p	CLIP-seq
MIRT2581891	hsa-miR-519c-5p	CLIP-seq
MIRT2581892	hsa-miR-520c-5p	CLIP-seq
MIRT2581893	hsa-miR-526a	CLIP-seq
MIRT2054616	hsa-miR-532-3p	CLIP-seq
MIRT2581894	hsa-miR-595	CLIP-seq
MIRT2581895	hsa-miR-635	CLIP-seq
MIRT2054619	hsa-miR-645	CLIP-seq
MIRT2581896	hsa-miR-650	CLIP-seq
MIRT2054620	hsa-miR-761	CLIP-seq
MIRT2581897	hsa-miR-769-3p	CLIP-seq
MIRT2054622	hsa-miR-885-3p	CLIP-seq
MIRT2581898	hsa-miR-920	CLIP-seq
MIRT2581899	hsa-miR-939	CLIP-seq
MIRT2581867	hsa-miR-103a	CLIP-seq
MIRT2581868	hsa-miR-107	CLIP-seq
MIRT2581869	hsa-miR-1179	CLIP-seq
MIRT2054589	hsa-miR-1264	CLIP-seq
MIRT2581870	hsa-miR-1291	CLIP-seq
MIRT2054590	hsa-miR-1299	CLIP-seq
MIRT2581871	hsa-miR-1343	CLIP-seq
MIRT2054591	hsa-miR-150	CLIP-seq
MIRT2581872	hsa-miR-1827	CLIP-seq
MIRT1188635	hsa-miR-1915	CLIP-seq
MIRT2054592	hsa-miR-214	CLIP-seq
MIRT2581873	hsa-miR-296-5p	CLIP-seq
MIRT2054593	hsa-miR-3117-5p	CLIP-seq
MIRT2054594	hsa-miR-3127-3p	CLIP-seq
MIRT2581875	hsa-miR-3150a-3p	CLIP-seq
MIRT2054596	hsa-miR-3173-3p	CLIP-seq
MIRT2581876	hsa-miR-3175	CLIP-seq
MIRT2054597	hsa-miR-3179	CLIP-seq
MIRT2686427	hsa-miR-3185	CLIP-seq
MIRT2581877	hsa-miR-3189-3p	CLIP-seq
MIRT2581878	hsa-miR-3192	CLIP-seq
MIRT2581879	hsa-miR-3612	CLIP-seq
MIRT2054598	hsa-miR-3619-5p	CLIP-seq
MIRT2054599	hsa-miR-3622a-5p	CLIP-seq
MIRT2054601	hsa-miR-4253	CLIP-seq
MIRT2054602	hsa-miR-4269	CLIP-seq
MIRT1188644	hsa-miR-4279	CLIP-seq
MIRT1188627	hsa-miR-4292	CLIP-seq
MIRT2581881	hsa-miR-4300	CLIP-seq
MIRT2581882	hsa-miR-4310	CLIP-seq
MIRT2054604	hsa-miR-4418	CLIP-seq
MIRT2054605	hsa-miR-4423-3p	CLIP-seq
MIRT2054606	hsa-miR-4428	CLIP-seq
MIRT2054607	hsa-miR-4476	CLIP-seq
MIRT2054609	hsa-miR-4533	CLIP-seq
MIRT2054610	hsa-miR-4639-5p	CLIP-seq
MIRT1188655	hsa-miR-4645-5p	CLIP-seq
MIRT2581885	hsa-miR-4667-5p	CLIP-seq
MIRT1188656	hsa-miR-4673	CLIP-seq
MIRT2581886	hsa-miR-4695-5p	CLIP-seq
MIRT2581887	hsa-miR-4700-5p	CLIP-seq
MIRT2054611	hsa-miR-4713-5p	CLIP-seq
MIRT2054612	hsa-miR-4726-3p	CLIP-seq
MIRT2054613	hsa-miR-4761-3p	CLIP-seq
MIRT2686428	hsa-miR-4782-5p	CLIP-seq
MIRT1188666	hsa-miR-488	CLIP-seq
MIRT2054614	hsa-miR-509-3-5p	CLIP-seq
MIRT2054615	hsa-miR-509-5p	CLIP-seq
MIRT2686429	hsa-miR-516b	CLIP-seq
MIRT2054616	hsa-miR-532-3p	CLIP-seq
MIRT2581895	hsa-miR-635	CLIP-seq
MIRT2054619	hsa-miR-645	CLIP-seq
MIRT2581896	hsa-miR-650	CLIP-seq
MIRT2686430	hsa-miR-7	CLIP-seq
MIRT2054620	hsa-miR-761	CLIP-seq
MIRT2054621	hsa-miR-875-3p	CLIP-seq
MIRT2054622	hsa-miR-885-3p	CLIP-seq
MIRT2581898	hsa-miR-920	CLIP-seq
MIRT2581899	hsa-miR-939	CLIP-seq
MIRT2054624	hsa-miR-942	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000794	Component	Condensed nuclear chromosome	IEA
GO:0000794	Component	Condensed nuclear chromosome	ISS	11895476
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	25416956, 32814053, 33199730
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0005730	Component	Nucleolus	ISS	11895476
GO:0005739	Component	Mitochondrion	IDA
GO:0006364	Process	RRNA processing	IBA
GO:0006364	Process	RRNA processing	ISS
GO:0006409	Process	TRNA export from nucleus	IBA
GO:0032040	Component	Small-subunit processome	IBA
GO:0032040	Component	Small-subunit processome	IDA	34516797
GO:0032545	Component	CURI complex	IBA
GO:0034456	Component	UTP-C complex	IBA
GO:0042274	Process	Ribosomal small subunit biogenesis	IDA	34516797

MIM	HGNC	e!Ensembl
611532	19910	ENSG00000165271

Q9H6R4

Protein name

Nucleolar protein 6 (Nucleolar RNA-associated protein) (Nrap)

Protein function

Part of the small subunit (SSU) processome, first precursor of the small eukaryotic ribosomal subunit. During the assembly of the SSU processome in the nucleolus, many ribosome biogenesis factors, an RNA chaperone and ribosomal proteins associat

PDB

7MQ8 , 7MQ9 , 7MQA

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03813	Nrap	178 → 320	Nrap protein domain 1	Domain
PF17403	Nrap_D2	323 → 463	Nrap protein PAP/OAS-like domain	Domain
PF17404	Nrap_D3	466 → 629	Nrap protein domain 3	Domain
PF17405	Nrap_D4	640 → 846	Nrap protein nucleotidyltransferase domain 4	Domain
PF17406	Nrap_D5	848 → 1003	Nrap protein PAP/OAS1-like domain 5	Domain
PF17407	Nrap_D6	1005 → 1137	Nrap protein domain 6	Domain

Sequence

MGPAPAGEQLRGATGEPEVMEPALEGTGKEGKKASSRKRTLAEPPAKGLLQPVKLSRAEL
YKEPTNEELNRLRETEILFHSSLLRLQVEELLKEVRLSEKKKDRIDAFLREVNQRVVRVP
SVPETELTDQAWLPAGVRVPLHQVPYAVKGCFRFLPPAQVTVVGSYLLGTCIRPDINVDV
ALTMPREILQDKDGLNQRYFRKRALYLAHLAHHLAQDPLFGSVCFSYTNGCHLKPSLLLR
PRGKDERLVTVRLHPCPPPDFFRPCRLLPTKNNVRSAWYRGQSPAGDGSPEPPTPRYNTW
VLQDTVLESHLQLLSTILSSAQGLKDGVALLKVWLRQRELDKGQGGFTGFLVSMLVVFLV
STRKIHTTMSGYQVLRSVLQFLATTDLTVNGISLCLSSDPSLPALADFHQAFSVVFLDSS
GHLNLCADVTASTYHQVQHEARLSMMLLDSRADDGFHLLLMTPKPMIRAFDHVLHLRPLS
RLQAACHRLKLWPELQDNGGDYVSAALGPLTTLLEQGLGARLNLLAHSRPPVPEWDISQD
PPKHKDSGTLTLGLLLRPEGLTSVLELGPEADQPEAAKFRQFWGSRSELRRFQDGAIREA
VVWEAASMSQKRLIPHQVVTHLLALHADIPETCVHYVGGPLDALIQGLKETSSTGEEALV
AAVRCYDDLSRLLWGLEGLPLTVSAVQGAHPVLRYTEVFPPTPVRPAFSFYETLRERSSL
LPRLDKPCPAYVEPMTVVCHLEGSGQWPQDAEAVQRVRAAFQLRLAELLTQQHGLQCRAT
ATHTDVLKDGFVFRIRVAYQREPQILKEVQSPEGMISLRDTAASLRLERDTRQLPLLTSA
LHGLQQQHPAFSGVARLAKRWVRAQLLGEGFADESLDLVAAALFLHPEPFTPPSSPQVGF
LRFLFLVSTFDWKNNPLFVNLNNELTVEEQVEIRSGFLAARAQLPVMVIVTPQDRKNSVW
TQDGPSAQILQQLVVLAAEALPMLEKQLMDPRGPGDIRTVFRPPLDIYDVLIRLSPRHIP
RHRQAVDSPAASFCRGLLSQPGPSSLMPVLGYDPPQLYLTQLREAFGDLALFFYDQHGGE
VIGVLWKPTSFQPQPFKASSTKGRMVMSRGGELVMVPNVEAILEDFAVLGEGLVQTVEAR
SERWTV

Sequence length

1146

Interactions

View interactions

	KEGG		Reactome
	Ribosome biogenesis in eukaryotes		Major pathway of rRNA processing in the nucleolus and cytosol

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 Unknown Diseases (2)

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.
CUTANEOUS MELANOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (14)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	25514237	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	34561331	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	36672924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28611399, 30384889, 33534821, 36672924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	36672924	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	28611399		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	15205937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	15205937		★★★★★ ★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	34380431	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	27443559		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	Pubtator	27443559	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathies, Nemaline	Myopathy	BEFREE	30986853		★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	39585802	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis pigmentosa	Pubtator	19833706	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

NOL6 (nucleolar protein 6)