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

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1	Pathogenic	rs2523685088	RCV003236695	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DKC1-related disorder	Pathogenic	rs1603429348	RCV004730843	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dyskeratosis congenita	Pathogenic; Likely pathogenic	rs2523680394, rs137854489, rs121912288, rs121912304, rs2523673228, rs121912289, rs121912297, rs121912290, rs1569558474	RCV004060759 RCV000634495 RCV000464438 RCV000816060 RCV003646411 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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 View all (18 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hoyeraal-Hreidarsson syndrome	Pathogenic	rs28936072	RCV000012351	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (13)

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.
APLASTIC ANEMIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBELLAR HYPOPLASIA/ATROPHY, EPILEPSY, AND GLOBAL DEVELOPMENTAL DELAY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cerebellar hypoplasia	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inherited Immunodeficiency Diseases	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary fibrosis	Likely risk allele	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-LINKED DYSKERATOSIS CONGENITA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (136)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	31413099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	Pubtator	21415081	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Alveolitis Extrinsic Allergic	Extrinsic allergic alveolitis	Pubtator	31268371	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anaplastic Ependymoma	Anaplastic Ependymoma	BEFREE	17196947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	10583221, 20954562, 21931702, 27418648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aplastic Anemia	Aplastic anemia	BEFREE	10438713, 10583221		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	16841302		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone marrow diseases	Pubtator	26366868	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow Failure Disorders	Bone marrow failure syndromes	Pubtator	10438713, 12437656, 21931702, 25239263, 31269755, 35384376, 9886310	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Marrow failure syndromes	Bone marrow failure syndrome	BEFREE	19796246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16841302, 18936525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32868896	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22912812	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	23233094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	37188742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37434223	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36732018	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	BEFREE	10583221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	10583221	Associate	★★★★★ ★☆☆☆☆ 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
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27253413		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	18607840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31027506, 36319976, 37604903	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Bone Marrow Failure Syndromes	Congenital bone marrow failure syndrome	Pubtator	29178645	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pontocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	26951492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conjunctivitis	Conjunctivitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29901172, 30847721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	20954562	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskeratosis Congenita	Dyskeratosis Congenita	CLINVAR_DG	10364516, 10583221, 11491307, 14648217, 19391112, 19835419, 21602826, 22058290, 23660516, 24914498, 25992652, 9590285		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis congenita	Pubtator	10364516, 10438713, 10583221, 10700698, 11851894, 12437656, 12890806, 15304085, 15842668, 16332973, 16427014, 17135485, 17468339, 17507419, 17785587 View all (33 more)	Associate	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis Congenita	BEFREE	10556300, 10591218, 10700698, 10903840, 11259155, 11379875, 11641517, 12186364, 14556776, 15304085, 15613268, 15753647, 15842668, 15917199, 16207588 View all (35 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis Congenita	GENOMICS_ENGLAND_DG	10583221, 11379875, 28297620, 9590285		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis Congenita	LHGDN	15613268, 16690864, 17625368, 18057229, 18802941		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis Congenita	Dyskeratosis Congenita	CTD_human_DG	17785587, 22299032		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dyskeratosis congenita	Dyskeratosis Congenita	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT	Dyskeratosis Congenita	BEFREE	14758110		★★★★★ ★☆☆☆☆ Found in Text Mining only
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6	Dyskeratosis Congenita	GENOMICS_ENGLAND_DG	10364516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	38082360	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	39287291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Stenosis	Esophageal Stenosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Stricture	Esophageal Stricture	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Excessive tearing	Excessive Tearing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Excessive tearing	Excessive Tearing	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30847721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	20332657	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	31413099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	10583221, 22099312		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hoyeraal Hreidarsson syndrome	Hoyeraal hreidarsson syndrome	Pubtator	10583221, 10700698, 12437656, 16332973, 22058220, 23335200, 26810774, 31269755, 33734615	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	BEFREE	10583221, 12437656, 24115260, 24914498, 26951492		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	GENOMICS_ENGLAND_DG	10583221		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HOYERAAL-HREIDARSSON SYNDROME	Hoyeraal-Hreidarsson Syndrome	ORPHANET_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hoyeraal-Hreidarsson syndrome	Hoyeraal-Hreidarsson Syndrome	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperplasia	Hyperplasia	Pubtator	37302654	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	29742735, 32710892	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29804726, 30660786		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Inherited bone marrow failure syndrome	Inherited Bone Marrow Failure Syndrome	BEFREE	17468339, 29178645		★★★★★ ★☆☆☆☆ 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
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	19796246		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoplakia, Oral	Leukoplakia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22912812, 29672884		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	37302654	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	24504062, 33191321	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	16841302, 18936525, 20501855		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23233094, 23348390		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	19755982, 30847721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15613268, 16690864, 16841302, 19755982, 20587522, 20925138, 21241452, 21480387, 23348390, 24468621, 29672884, 30847721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	15613268		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	14726712		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	14726712	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	26366868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	26366868		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	26366868	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	23707062	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	25239263, 27418648	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20501855, 20587522, 21480387, 21502955, 23348390, 28443573, 29901172, 30847721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NIEMANN-PICK DISEASE, TYPE C2	Niemann-Pick Disease	BEFREE	14726712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	24690175		★★★★★ ★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	BEFREE	10438713, 12437656, 16690864, 19391112, 29804726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pontoneocerebellar hypoplasia	Pontoneocerebellar hypoplasia	BEFREE	26951492		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	15613268, 23660516		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	19755982, 30847721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19755982	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	24504062, 29742735		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	32710892	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	30847721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency	Pubtator	12437656	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	36018809	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Werner Syndrome	Werner Syndrome	BEFREE	23112078		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-Linked Dyskeratosis Congenita	Dyskeratosis Congenita, X-Linked	BEFREE	10364516, 10438713, 10583221, 12186364, 12437656, 12513020, 12736709, 14758110, 15304085, 15842668, 16690864, 18057229, 19734544, 20453831, 20587522 View all (19 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked Dyskeratosis Congenita	Dyskeratosis Congenita, X-Linked	UNIPROT_DG	10364516, 10583221, 12437656, 15304085, 17417794, 18802941, 19734544, 19879169, 21602826, 24914498, 25219674, 9590285		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked Dyskeratosis Congenita	Dyskeratosis Congenita, X-Linked	GENOMICS_ENGLAND_DG	10583221, 11379875, 9590285, 9886310		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked Dyskeratosis Congenita	Dyskeratosis Congenita, X-Linked	CLINVAR_DG	11379875, 12137939, 29483670		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
X-Linked Dyskeratosis Congenita	Dyskeratosis Congenita, X-Linked	CTD_human_DG	17785587, 22299032		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

DKC1 (dyskerin pseudouridine synthase 1)