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	1736
Gene name	Dyskerin pseudouridine synthase 1
Gene symbol	DKC1
Synonyms (NCBI Gene)	CBF5CHINE1DKCDKCXNAP57NOLA4XAP101
Chromosome	X
Chromosome location	Xq28
Summary	This gene functions in two distinct complexes. It plays an active role in telomerase stabilization and maintenance, as well as recognition of snoRNAs containing H/ACA sequences which provides stability during biogenesis and assembly into H/ACA small nucle

Show/Hide all (30)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2728726	C>A,G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs28936072	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121912290	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121912291	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121912292	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121912293	T>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121912294	CT>TA	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121912296	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121912297	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121912301	G>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121912302	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121912303	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121912304	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121912305	A>G	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs137854489	CTT>-	Pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs137854491	C>A,G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs146700772	A>C	Benign, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs199422241	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, pathogenic	5 prime UTR variant, upstream transcript variant, genic upstream transcript variant
rs199422242	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs199422243	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs199422244	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs199422245	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs199422247	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs199422248	A>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs782343800	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs782576893	GAAGAAGAA>-,GAA,GAAGAA,GAAGAAGAAGAA,GAAGAAGAAGAAGAA,GAAGAAGAAGAAGAAGAA	Uncertain-significance, benign, conflicting-interpretations-of-pathogenicity, likely-benign	Inframe deletion, inframe insertion, 3 prime UTR variant, coding sequence variant, non coding transcript variant
rs878853071	C>G	Pathogenic	Missense variant, non coding transcript variant, 3 prime UTR variant, coding sequence variant
rs1557264102	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1569558474	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1603429348	C>G	Pathogenic	Intron variant

185

Show/Hide all (185)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022796	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT031769	hsa-miR-16-5p	Proteomics	18668040
MIRT036690	hsa-miR-935	CLASH	23622248
MIRT755971	hsa-miR-326	Luciferase reporter assayWestern blottingqRT-PCR	37426487
MIRT937433	hsa-miR-1226	CLIP-seq
MIRT937434	hsa-miR-1245b-3p	CLIP-seq
MIRT937435	hsa-miR-1246	CLIP-seq
MIRT937436	hsa-miR-1273d	CLIP-seq
MIRT937437	hsa-miR-1290	CLIP-seq
MIRT937438	hsa-miR-129-5p	CLIP-seq
MIRT937439	hsa-miR-1297	CLIP-seq
MIRT937440	hsa-miR-1323	CLIP-seq
MIRT937441	hsa-miR-1324	CLIP-seq
MIRT937442	hsa-miR-139-5p	CLIP-seq
MIRT937443	hsa-miR-150	CLIP-seq
MIRT937444	hsa-miR-1912	CLIP-seq
MIRT937445	hsa-miR-193a-5p	CLIP-seq
MIRT937446	hsa-miR-1972	CLIP-seq
MIRT937447	hsa-miR-208a	CLIP-seq
MIRT937448	hsa-miR-208b	CLIP-seq
MIRT937449	hsa-miR-26a	CLIP-seq
MIRT937450	hsa-miR-26b	CLIP-seq
MIRT937451	hsa-miR-2909	CLIP-seq
MIRT937452	hsa-miR-296-3p	CLIP-seq
MIRT937453	hsa-miR-3065-5p	CLIP-seq
MIRT937454	hsa-miR-3120-3p	CLIP-seq
MIRT937455	hsa-miR-3134	CLIP-seq
MIRT937456	hsa-miR-3148	CLIP-seq
MIRT937457	hsa-miR-3166	CLIP-seq
MIRT937458	hsa-miR-3167	CLIP-seq
MIRT937459	hsa-miR-3169	CLIP-seq
MIRT937460	hsa-miR-338-3p	CLIP-seq
MIRT937461	hsa-miR-3617	CLIP-seq
MIRT937462	hsa-miR-3663-3p	CLIP-seq
MIRT937463	hsa-miR-3688-3p	CLIP-seq
MIRT937464	hsa-miR-3908	CLIP-seq
MIRT937465	hsa-miR-4267	CLIP-seq
MIRT937466	hsa-miR-4279	CLIP-seq
MIRT937467	hsa-miR-4310	CLIP-seq
MIRT937468	hsa-miR-4420	CLIP-seq
MIRT937469	hsa-miR-4426	CLIP-seq
MIRT937470	hsa-miR-4436b-5p	CLIP-seq
MIRT937471	hsa-miR-4465	CLIP-seq
MIRT937472	hsa-miR-4468	CLIP-seq
MIRT937473	hsa-miR-4513	CLIP-seq
MIRT937474	hsa-miR-4639-3p	CLIP-seq
MIRT937475	hsa-miR-4647	CLIP-seq
MIRT937476	hsa-miR-4650-5p	CLIP-seq
MIRT937477	hsa-miR-4659a-3p	CLIP-seq
MIRT937478	hsa-miR-4659b-3p	CLIP-seq
MIRT937479	hsa-miR-4662b	CLIP-seq
MIRT937480	hsa-miR-4691-5p	CLIP-seq
MIRT937481	hsa-miR-4713-5p	CLIP-seq
MIRT937482	hsa-miR-4717-5p	CLIP-seq
MIRT937483	hsa-miR-4731-3p	CLIP-seq
MIRT937484	hsa-miR-4740-5p	CLIP-seq
MIRT937485	hsa-miR-4754	CLIP-seq
MIRT937486	hsa-miR-4771	CLIP-seq
MIRT937487	hsa-miR-4792	CLIP-seq
MIRT937488	hsa-miR-4801	CLIP-seq
MIRT937489	hsa-miR-499-5p	CLIP-seq
MIRT937490	hsa-miR-499a-5p	CLIP-seq
MIRT937491	hsa-miR-518a-5p	CLIP-seq
MIRT937492	hsa-miR-527	CLIP-seq
MIRT937493	hsa-miR-532-3p	CLIP-seq
MIRT937494	hsa-miR-543	CLIP-seq
MIRT937495	hsa-miR-545	CLIP-seq
MIRT937496	hsa-miR-548o	CLIP-seq
MIRT937497	hsa-miR-634	CLIP-seq
MIRT937498	hsa-miR-641	CLIP-seq
MIRT937499	hsa-miR-645	CLIP-seq
MIRT937500	hsa-miR-766	CLIP-seq
MIRT937501	hsa-miR-876-5p	CLIP-seq
MIRT937502	hsa-miR-942	CLIP-seq
MIRT937503	hsa-miR-1224-5p	CLIP-seq
MIRT937438	hsa-miR-129-5p	CLIP-seq
MIRT937504	hsa-miR-1304	CLIP-seq
MIRT937505	hsa-miR-3915	CLIP-seq
MIRT937506	hsa-miR-3928	CLIP-seq
MIRT937472	hsa-miR-4468	CLIP-seq
MIRT937507	hsa-miR-4689	CLIP-seq
MIRT937483	hsa-miR-4731-3p	CLIP-seq
MIRT937486	hsa-miR-4771	CLIP-seq
MIRT937488	hsa-miR-4801	CLIP-seq
MIRT937490	hsa-miR-499a-5p	CLIP-seq
MIRT937508	hsa-miR-520d-5p	CLIP-seq
MIRT937509	hsa-miR-524-5p	CLIP-seq
MIRT937438	hsa-miR-129-5p	CLIP-seq
MIRT937439	hsa-miR-1297	CLIP-seq
MIRT937442	hsa-miR-139-5p	CLIP-seq
MIRT937449	hsa-miR-26a	CLIP-seq
MIRT937450	hsa-miR-26b	CLIP-seq
MIRT937451	hsa-miR-2909	CLIP-seq
MIRT937452	hsa-miR-296-3p	CLIP-seq
MIRT1977478	hsa-miR-3117-5p	CLIP-seq
MIRT937454	hsa-miR-3120-3p	CLIP-seq
MIRT1977479	hsa-miR-3677-5p	CLIP-seq
MIRT937465	hsa-miR-4267	CLIP-seq
MIRT937466	hsa-miR-4279	CLIP-seq
MIRT937467	hsa-miR-4310	CLIP-seq
MIRT937468	hsa-miR-4420	CLIP-seq
MIRT937471	hsa-miR-4465	CLIP-seq
MIRT937472	hsa-miR-4468	CLIP-seq
MIRT937480	hsa-miR-4691-5p	CLIP-seq
MIRT937486	hsa-miR-4771	CLIP-seq
MIRT937490	hsa-miR-499a-5p	CLIP-seq
MIRT937500	hsa-miR-766	CLIP-seq
MIRT937434	hsa-miR-1245b-3p	CLIP-seq
MIRT937435	hsa-miR-1246	CLIP-seq
MIRT937437	hsa-miR-1290	CLIP-seq
MIRT937438	hsa-miR-129-5p	CLIP-seq
MIRT937442	hsa-miR-139-5p	CLIP-seq
MIRT937445	hsa-miR-193a-5p	CLIP-seq
MIRT2212802	hsa-miR-2467-5p	CLIP-seq
MIRT937451	hsa-miR-2909	CLIP-seq
MIRT937452	hsa-miR-296-3p	CLIP-seq
MIRT937453	hsa-miR-3065-5p	CLIP-seq
MIRT1977478	hsa-miR-3117-5p	CLIP-seq
MIRT937454	hsa-miR-3120-3p	CLIP-seq
MIRT937455	hsa-miR-3134	CLIP-seq
MIRT937458	hsa-miR-3167	CLIP-seq
MIRT2212803	hsa-miR-3188	CLIP-seq
MIRT937462	hsa-miR-3663-3p	CLIP-seq
MIRT2212804	hsa-miR-371-5p	CLIP-seq
MIRT2212805	hsa-miR-3975	CLIP-seq
MIRT937467	hsa-miR-4310	CLIP-seq
MIRT2212806	hsa-miR-4316	CLIP-seq
MIRT937470	hsa-miR-4436b-5p	CLIP-seq
MIRT937474	hsa-miR-4639-3p	CLIP-seq
MIRT2212807	hsa-miR-4710	CLIP-seq
MIRT937485	hsa-miR-4754	CLIP-seq
MIRT937487	hsa-miR-4792	CLIP-seq
MIRT2212808	hsa-miR-485-5p	CLIP-seq
MIRT2212809	hsa-miR-493	CLIP-seq
MIRT937508	hsa-miR-520d-5p	CLIP-seq
MIRT937509	hsa-miR-524-5p	CLIP-seq
MIRT937495	hsa-miR-545	CLIP-seq
MIRT2212810	hsa-miR-873	CLIP-seq
MIRT937501	hsa-miR-876-5p	CLIP-seq
MIRT2212811	hsa-miR-888	CLIP-seq
MIRT937442	hsa-miR-139-5p	CLIP-seq
MIRT937451	hsa-miR-2909	CLIP-seq
MIRT937452	hsa-miR-296-3p	CLIP-seq
MIRT937453	hsa-miR-3065-5p	CLIP-seq
MIRT1977478	hsa-miR-3117-5p	CLIP-seq
MIRT937454	hsa-miR-3120-3p	CLIP-seq
MIRT2386919	hsa-miR-3919	CLIP-seq
MIRT937467	hsa-miR-4310	CLIP-seq
MIRT937468	hsa-miR-4420	CLIP-seq
MIRT937470	hsa-miR-4436b-5p	CLIP-seq
MIRT937472	hsa-miR-4468	CLIP-seq
MIRT937474	hsa-miR-4639-3p	CLIP-seq
MIRT937486	hsa-miR-4771	CLIP-seq
MIRT937490	hsa-miR-499a-5p	CLIP-seq
MIRT937495	hsa-miR-545	CLIP-seq
MIRT937438	hsa-miR-129-5p	CLIP-seq
MIRT937442	hsa-miR-139-5p	CLIP-seq
MIRT937451	hsa-miR-2909	CLIP-seq
MIRT937452	hsa-miR-296-3p	CLIP-seq
MIRT2516662	hsa-miR-3117-3p	CLIP-seq
MIRT1977478	hsa-miR-3117-5p	CLIP-seq
MIRT937454	hsa-miR-3120-3p	CLIP-seq
MIRT937459	hsa-miR-3169	CLIP-seq
MIRT937467	hsa-miR-4310	CLIP-seq
MIRT937468	hsa-miR-4420	CLIP-seq
MIRT2516663	hsa-miR-4450	CLIP-seq
MIRT937472	hsa-miR-4468	CLIP-seq
MIRT2516664	hsa-miR-4759	CLIP-seq
MIRT937486	hsa-miR-4771	CLIP-seq
MIRT937490	hsa-miR-499a-5p	CLIP-seq
MIRT937508	hsa-miR-520d-5p	CLIP-seq
MIRT937509	hsa-miR-524-5p	CLIP-seq
MIRT937438	hsa-miR-129-5p	CLIP-seq
MIRT937442	hsa-miR-139-5p	CLIP-seq
MIRT937451	hsa-miR-2909	CLIP-seq
MIRT937452	hsa-miR-296-3p	CLIP-seq
MIRT1977478	hsa-miR-3117-5p	CLIP-seq
MIRT937454	hsa-miR-3120-3p	CLIP-seq
MIRT937467	hsa-miR-4310	CLIP-seq
MIRT937468	hsa-miR-4420	CLIP-seq
MIRT937472	hsa-miR-4468	CLIP-seq
MIRT937486	hsa-miR-4771	CLIP-seq
MIRT937490	hsa-miR-499a-5p	CLIP-seq
MIRT937508	hsa-miR-520d-5p	CLIP-seq
MIRT937509	hsa-miR-524-5p	CLIP-seq

Show/Hide all (60)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000455	Process	Enzyme-directed rRNA pseudouridine synthesis	IMP	25219674
GO:0000495	Process	Box H/ACA sno(s)RNA 3'-end processing	IBA
GO:0001522	Process	Pseudouridine synthesis	IEA
GO:0001650	Component	Fibrillar center	IDA
GO:0003720	Function	Telomerase activity	IDA	23685356
GO:0003720	Function	Telomerase activity	IDA	12135483
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0003723	Function	RNA binding	IPI	18082603, 20351177, 22527283
GO:0003723	Function	RNA binding	TAS	10591218
GO:0005515	Function	Protein binding	IPI	16601202, 16618814, 18358808, 19179534, 19383767, 21846770, 23685356, 24965446, 25467444, 26496610, 28514442, 29178645, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS	10556300
GO:0005697	Component	Telomerase holoenzyme complex	IDA	12135483, 18082603, 29695869
GO:0005697	Component	Telomerase holoenzyme complex	NAS	20351177
GO:0005697	Component	Telomerase holoenzyme complex	TAS	20351177
GO:0005730	Component	Nucleolus	IEA
GO:0005730	Component	Nucleolus	TAS	10556300
GO:0005737	Component	Cytoplasm	IEA
GO:0006364	Process	RRNA processing	IEA
GO:0006364	Process	RRNA processing	TAS	10556300
GO:0006396	Process	RNA processing	IEA
GO:0006396	Process	RNA processing	TAS	9590285
GO:0007004	Process	Telomere maintenance via telomerase	IDA	29695869
GO:0007004	Process	Telomere maintenance via telomerase	IMP	26950371
GO:0007004	Process	Telomere maintenance via telomerase	NAS	20351177
GO:0007004	Process	Telomere maintenance via telomerase	TAS	10591218
GO:0009451	Process	RNA modification	IEA
GO:0009982	Function	Pseudouridine synthase activity	IBA
GO:0009982	Function	Pseudouridine synthase activity	IEA
GO:0009982	Function	Pseudouridine synthase activity	IMP	25219674
GO:0015030	Component	Cajal body	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0031118	Process	RRNA pseudouridine synthesis	IBA
GO:0031118	Process	RRNA pseudouridine synthesis	IEA
GO:0031118	Process	RRNA pseudouridine synthesis	IEA
GO:0031120	Process	SnRNA pseudouridine synthesis	IBA
GO:0031429	Component	Box H/ACA snoRNP complex	IBA
GO:0031429	Component	Box H/ACA snoRNP complex	IDA	18082603
GO:0031429	Component	Box H/ACA snoRNP complex	TAS	22527283
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IDA	23685356
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IEA
GO:0032212	Process	Positive regulation of telomere maintenance via telomerase	IMP	25467444
GO:0033979	Process	Box H/ACA sno(s)RNA metabolic process	IEA
GO:0034513	Function	Box H/ACA snoRNA binding	IPI	18082603
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0070034	Function	Telomerase RNA binding	IPI	18082603, 20351177, 22527283, 26950371
GO:0072589	Component	Box H/ACA scaRNP complex	TAS	22527283
GO:0090661	Component	Box H/ACA telomerase RNP complex	IDA	18082603
GO:0090661	Component	Box H/ACA telomerase RNP complex	TAS	22527283
GO:0090666	Process	ScaRNA localization to Cajal body	IMP	25467444
GO:0090669	Process	Telomerase RNA stabilization	IMP	25467444, 26950371
GO:1904867	Process	Protein localization to Cajal body	HMP	25467444
GO:1904872	Process	Regulation of telomerase RNA localization to Cajal body	IMP	26950371
GO:1904874	Process	Positive regulation of telomerase RNA localization to Cajal body	IMP	25467444
GO:1905323	Process	Telomerase holoenzyme complex assembly	IEA
GO:1990481	Process	MRNA pseudouridine synthesis	IBA
GO:1990904	Component	Ribonucleoprotein complex	IEA

MIM	HGNC	e!Ensembl
300126	2890	ENSG00000130826

O60832

Protein name

H/ACA ribonucleoprotein complex subunit DKC1 (EC 5.4.99.-) (CBF5 homolog) (Dyskerin) (Nopp140-associated protein of 57 kDa) (Nucleolar protein NAP57) (Nucleolar protein family A member 4) (snoRNP protein DKC1)

Protein function

[Isoform 1]: Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA (PubMed:25219674, PubMed:32554502). This involves the isomerization of uridine such that the ribose is su

PDB

7BGB , 7TRC , 7V9A , 8OUE , 8OUF

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08068	DKCLD	49 → 106	DKCLD (NUC011) domain	Domain
PF01509	TruB_N	110 → 226	TruB family pseudouridylate synthase (N terminal domain)	Family
PF16198	TruB_C_2	227 → 294	tRNA pseudouridylate synthase B C-terminal domain	Family
PF01472	PUA	297 → 370	PUA domain	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:10903840}.

Sequence

MADAEVIILPKKHKKKKERKSLPEEDVAEIQHAEEFLIKPESKVAKLDTSQWPLLLKNFD
KLNVRTTHYTPLACGSNPLKREIGDYIRTGFINLDKPSNPSSHEVVAWIRRILRVEKTGH
SGTLDPKVTGCLIVCIERATRLVKSQQSAGKEYVGIVRLHNAIEGGTQLSRALETLTGAL
FQRPPLIAAVKRQLRVRTIYESKMIEYDPERRLGIFWVSCEAGTYIRTLCVHLGLLLGVG
GQMQELRRVRSGVMSEKDHMVTMHDVLDAQWLYDNHKDESYLRRVVYPLEKLLTSHKRLV
MKDSAVNAICYGAKIMLPGVLRYEDGIEVNQEIVVITTKGEAICMAIALMTTAVISTCDH
GIVAKIKRVIMERDTYPRKWGLGPKASQKKLMIKQGLLDKHGKPTDSTPATWKQEYVDYS
ESAKKEVVAEVVKAPQVVAEAAKTAKRKRESESESDETPPAAPQLIKKEKKKSKKDKKAK
AGLESGAEPGDGDSDTTKKKKKKKKAKEVELVSE

Sequence length

514

Interactions

View interactions

	KEGG		Reactome
	Ribosome biogenesis in eukaryotes		Telomere Extension By Telomerase rRNA modification in the nucleus and cytosol

501

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1	Pathogenic	rs2523685088	RCV003236695
DKC1-related disorder	Pathogenic	rs1603429348	RCV004730843
Dyskeratosis congenita	Pathogenic; Likely pathogenic	rs2523680394, rs137854489, rs121912288, rs121912304, rs2523673228, rs121912289, rs121912297, rs121912290, rs1569558474	RCV004060759 RCV000634495 RCV000464438 RCV000816060 RCV003646411 RCV004018696 RCV003529927 RCV004018699 RCV000696342
Dyskeratosis congenita, X-linked	Likely pathogenic; Pathogenic	rs199422245, rs121912293, rs137854489, rs121912292, rs121912294, rs121912295, rs121912288, rs1603429348, rs121912304, rs28936072, rs137854491, rs1569558616, rs2523679280, rs2523695424, rs1114167422 View all (8 more)	RCV001845042 RCV000012338 RCV000012339 RCV000012340 RCV000012341 RCV000012342 RCV000012343 RCV000012347 RCV000012349 RCV000055631 RCV000012352 RCV000012354 RCV003445289 RCV003459971 RCV000491810 RCV000501902 RCV000677353 RCV000032187 RCV000032193 RCV000032197 RCV000032208 RCV001172399 RCV001195949
Hoyeraal-Hreidarsson syndrome	Pathogenic	rs28936072	RCV000012351

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Congenital cerebellar hypoplasia	Conflicting classifications of pathogenicity	rs1057520719	RCV001257984
Familial cancer of breast	Likely benign	rs11156581	RCV005916094
Hepatocellular carcinoma	Benign	rs782792193	RCV005931500
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity	rs150319104	RCV000721040
Inherited Immunodeficiency Diseases	Uncertain significance	rs1289430524	RCV001027568
Melanoma	Benign	rs782792193	RCV005931502
Nonpapillary renal cell carcinoma	Uncertain significance; Benign; Likely benign	rs2071881685, rs782792193, rs781937653	RCV005931142 RCV005931501 RCV005934789
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	rs121912303	RCV005888859
Pulmonary fibrosis	Likely risk allele	rs200438009, rs2071814101	RCV002509769 RCV002509786
Thyroid cancer, nonmedullary, 1	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	rs2148513624, rs782697778, rs782084631, rs2523688480, rs782622660	RCV005912540 RCV005923904 RCV005921074 RCV005928340 RCV005909161

Show/Hide Text Mining Associations (58)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	33879171
Adrenal Insufficiency	Associate	32710892
Adrenoleukodystrophy	Associate	21415081
Alveolitis Extrinsic Allergic	Associate	31268371
Anemia Aplastic	Associate	10583221, 20954562, 21931702, 27418648
Anonychia onychodystrophy	Associate	20954562
Bone Marrow Diseases	Stimulate	26366868
Bone Marrow Failure Disorders	Associate	10438713, 12437656, 21931702, 25239263, 31269755, 35384376, 9886310
Breast Neoplasms	Associate	32868896
Carcinoma Hepatocellular	Associate	22912812
Carcinoma Pancreatic Ductal	Associate	37188742
Carcinoma Renal Cell	Associate	37434223
Carcinoma Squamous Cell	Inhibit	36732018
Cerebellar Hypoplasia	Associate	10583221
Colorectal Neoplasms	Associate	31027506, 36319976, 37604903
Congenital Bone Marrow Failure Syndromes	Associate	29178645
Death	Associate	35384376
Deglutition Disorders	Associate	20954562
Disease	Associate	30202881
Dyskeratosis Congenita	Associate	10364516, 10438713, 10583221, 10700698, 11851894, 12437656, 12890806, 15304085, 15842668, 16332973, 16427014, 17135485, 17468339, 17507419, 17785587 View all (33 more)
Ectodermal Dysplasia	Associate	38082360
Esophageal Neoplasms	Associate	39287291
Fibrosis	Associate	24504062, 29976374
GSD IV Neuromuscular Form Fatal Perinatal	Associate	21415081
Head and Neck Neoplasms	Associate	20332657
Hematologic Neoplasms	Associate	31413099
Hoyeraal Hreidarsson syndrome	Associate	10583221, 10700698, 12437656, 16332973, 22058220, 23335200, 26810774, 31269755, 33734615
Hyperpigmentation	Associate	20954562
Hyperplasia	Associate	37302654
Idiopathic Pulmonary Fibrosis	Associate	29742735, 32710892
Immunologic Deficiency Syndromes	Associate	10583221, 31269755, 32710892, 35384376
Leukemia Erythroblastic Acute	Associate	31413099
Leukemia Lymphocytic Chronic B Cell	Associate	28666010
Leukemia Prolymphocytic T Cell	Associate	27253413
Leukemia T Cell	Associate	17539775
Leukoplakia Oral	Associate	20954562
Liver Failure	Associate	37302654
Lung Diseases Interstitial	Associate	24504062, 33191321
Melanoma	Associate	14726712
Multiple Myeloma	Associate	26366868
Multiple System Atrophy	Associate	23707062
Myelodysplastic Syndromes	Associate	25239263, 27418648
Neoplasm Metastasis	Inhibit	36732018
Neoplasm Metastasis	Associate	37188742
Neoplasms	Inhibit	17539775
Neoplasms	Associate	19755982, 20332657, 32868896, 38082360
Neoplasms	Stimulate	37434223
Neuropathy Hereditary Sensory X Linked	Associate	20954562
Pre Eclampsia	Associate	34699328
Prostatic Neoplasms	Stimulate	19755982
Pulmonary Fibrosis	Associate	32710892
Rectal Neoplasms	Associate	31027506
Severe Combined Immunodeficiency	Associate	12437656
Shwachman Diamond Syndrome	Associate	17539775
Somatoform Disorders	Associate	9886310
Telomeric 22q13 Monosomy Syndrome	Associate	36018809
Von Willebrand Disease X Linked Form	Associate	10364516
X Linked Combined Immunodeficiency Diseases	Associate	12437656

DKC1 (dyskerin pseudouridine synthase 1)