Dyskeratosis Congenita malady

NIH Rare Diseases: Dyskeratosis congenita is a disorder that may affect many parts of the body. Three features are especially characteristic of this disorder: (1) fingernails and toenails that grow poorly or are abnormally shaped; (2) changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy"; and (3) white patches inside the mouth (oral leukoplakia). People with dyskeratosis congenita also have an increased risk of developing several life-threatening conditions, including bone marrow failure, aplastic anemia, myelodysplastic syndrome, leukemia, and other cancers. The severity of dyskeratosis congenita varies widely among affected individuals. In about half of people, this condition is caused by mutations the DKC1, TERC, TERT, and TINF2 genes. Dyskeratosis congenita can have different inheritance patterns.³⁰

MalaCards: Dyskeratosis Congenita, also known as hoyeraal-hreidarsson syndrome, is related to dyskeratosis congenita autosomal dominant and dyskeratosis congenita autosomal recessive. An important gene associated with Dyskeratosis Congenita is DKC1 (dyskeratosis congenita 1, dyskerin), and among its related pathways are Ribosome biogenesis in eukaryotes and Telomere Extension by Telomerase. The compounds uridine and bmmp have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, skin and t cells, and related mouse phenotype tumorigenesis.

Genetics Home Reference: Dyskeratosis congenita is a disorder that may affect many parts of the body. There are three features that are especially characteristic of this disorder. Affected individuals often have fingernails and toenails that grow poorly or are abnormally shaped. They also often have changes in skin coloring (pigmentation), especially on the neck and chest, in a pattern often described as "lacy." White patches inside the mouth (oral leukoplakia) constitute the third characteristic feature of dyskeratosis congenita.¹⁷

Wikipedia: Dyskeratosis congenita (DKC), also called Zinsser-Cole-Engman syndrome, is a rare progressive congenital...⁴⁴ more...

OMIM: 127550

GeneReviews summary for dkc

Aliases & Descriptions:

dyskeratosis congenita 6 7 15 30 17 8 33 32 43 hoyeraal-hreidarsson syndrome 30 17 33 32 43 revesz syndrome 15 30 16 33 hoyeraal hreidarsson syndrome 15 30 16 dyskeratosis congenita (disorder) 6 16 zinsser-cole-engman syndrome 15 17 growth retardation prenatal with progressive pancytopenia and cerebellar hypoplasia 30

exudative retinopathy with bone marrow failure 30 cerebellar hypoplasia with pancytopenia 30 zinsser-engman-cole syndrome 30 zinsser cole engman syndrome 16 revesz syndrome (disorder) 43 dkc 30

Disease types for dyskeratosis congenita family:

dyskeratosis congenita-1

Diseases related to dyskeratosis congenita by text searches and GeneDecks gene sharing:

(show top 50)    (show all 125)

id	Related Disease	Score	Top Affiliating Genes
1	dyskeratosis congenita autosomal dominant	34.1	DKC1, TINF2, TERC, TERT
2	dyskeratosis congenita autosomal recessive	33.1	WRAP53, TERT, NOP10, NHP2
3	dyskeratosis congenita-1	32.9	TRUB2, DKC1, TRUB1
4	pancytopenia	30.6	XIAP, CSF2, IL3, DKC1
5	torch syndrome	30.3	TERC, DKC1
6	renal agenesis	29.8	TERT, DKC1, TERC
7	combined immunodeficiency	29.6	TP53, DKC1, CSF2, IL3, KITLG
8	severe combined immunodeficiency	29.6	DKC1, KITLG, CSF2, TP53, IL3
9	aplastic anemia	28.6	SBDS, IL3, KITLG, TERT, DKC1, CSF2
10	dyskeratosis	28.6	MAGEA2, MAGEA11, MAGEA4, MAGEA8, MAGEA9, ALB
11	leukoplakia	28.1	NHP2, WRAP53, DKC1, TINF2, NOP10, TERT
12	neutropenia	28.0	ALB, SBDS, CSF2, IL3, KITLG
13	fanconi's anemia	26.2	NHP2, TERC, TP53, KITLG, IL3, TERF1
14	malignant glioma	26.0	TERC, CSF2, IL3, DKC1, TERT, KITLG
15	pulmonary disease	25.9	WRAP53, ALB, TP53, TERF1, TERT, DKC1
16	anemia	24.5	DKC1, CSF2, NHP2, WRAP53, IL3, GAR1
17	chronic lymphocytic leukemia	22.2	TERT, ALB, TP53, TERF1, DKC1, IL3
18	lymphocytic leukemia	21.8	TERF2IP, KITLG, XIAP, CSF2, DKC1, TERT
19	breast cancer	20.9	MAGEA1, MAGEA3, POT1, TINF2, IL3, WRAP53
20	leukemia	20.8	SBDS, POT1, XIAP, IL3, MAGEA3, ALB
21	pulmonary fibrosis, familial	13.6	TERC, TERT
22	idiopathic pulmonary fibrosis	13.6	TERT, TERC
23	chromophobe renal cell carcinoma	13.1	CSF2, MAGEA4, MAGEA3
24	osseous dysplasia	13.1	MAGEA9, MAGEA6, ALB
25	leukemoid reaction	13.0	CSF2, IL3, KITLG
26	severe congenital neutropenia	12.9	IL3, CSF2
27	cyclic hematopoiesis	12.9	IL3, CSF2
28	dyserythropoietic anemia with thrombocytopenia	12.9	TERC, KITLG, IL3, CSF2
29	urinary bladder cancer	12.6	TP53, MAGEA3, TERT, MAGEA1
30	renal oncocytoma	12.6	MAGEA4, KITLG, MAGEA3, TP53
31	cerebrovascular disease	12.6	POT1, TERC, TERF2IP, TERF1, TERT
32	acute myeloid leukemia, adult	12.6	TP53, IL3
33	benign tumors	12.5	TP53, MAGEA1, TERC, TERT
34	seminoma	12.4	MAGEA4, MAGEA1, TERC, TP53, KITLG
35	pure red-cell aplasia	12.4	ALB, IL3, KITLG
36	ependymoma	12.4	CSF2, TERT, TERC, TP53
37	thrombocytosis	12.3	KITLG, IL3, ALB, CSF2
38	hematologic cancer	12.3	CSF2, KITLG, MAGEA1, IL3, MAGEA3, XIAP
39	non-hodgkin lymphoma	12.2	MAGEA4, MAGEA1, XIAP, IL3, CSF2, KITLG
40	vulvar cancer	12.2	MAGEA4, MAGEA1, ALB, TP53
41	testicular germ cell tumor	12.2	MAGEA4, MAGEA1, TP53, TERC, XIAP
42	sickle cell anemia	12.2	KITLG, IL3, ALB, CSF2
43	megakaryocytic leukemia	12.2	TP53, CSF2, KITLG, IL3
44	non-small cell lung carcinoma	12.2	XIAP, MAGEA1, TP53, TERT, MAGEA4
45	brain cancer	12.2	MAGEA3, TP53, TERC, TERF1, TERT
46	rhabdomyosarcoma	12.2	TP53, MAGEA4, MAGEA1, MAGEA3, TERT, KITLG
47	letterer-siwe disease	12.0	KITLG, TP53, CSF2, ALB
48	hodgkin's lymphoma	12.0	IL3, CSF2, XIAP, MAGEA1
49	laryngeal cancer	12.0	TERT, TERC, TP53, XIAP, POT1
50	osteoporosis	12.0	SBDS, ALB, BGN, WRAP53, NHP2, NOP10

Clinical features from OMIM: 127550

Approved drugs:

Drug clinical trials:

Genetic tests related to dyskeratosis congenita:

id	Genetic test	Affiliating Genes
1	Dyskeratosis Congenita clinical/research	TERC, TERT, NOP10, TINF2, DKC1, NHP2, WRAP53

MalaCards organs/tissues related to dyskeratosis congenita:

²²

MGI Mouse Phenotypes related to dyskeratosis congenita:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	tumorigenesis	MP:0002006	7.9	KITLG, IL3, TP53, TERC, TERF1, TERT

Articles related to dyskeratosis congenita:

(show top 50)    (show all 96)

id	Title	Authors	Year	Affiliating Genes
1	Disruption of telomerase trafficking by TCAB1 mutatio n causes dyskeratosis congenita. (21205863)	Zhong F.... Artandi S.E.	2011	WRAP53
2	A recurrent p. A353V mutation in DKC1 responsible for different phenotypes of dyskeratosis congenita in a Chinese family. (21601430)	Lai W.... Dai S.h.X.	2011	DKC1
3	Dyskeratosis congenita--two siblings with a new misse nse mutation in the DKC1 gene. (21736606)	Coelho J.D.... Apetato M.	2011	DKC1
4	TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase. (21536674)	Yang D.... Songyang Z.	2011	TINF2
5	A child with severe form of dyskeratosis congenita an d TINF2 mutation of shelterin complex. (20979174)	Sarper N.... KA+lA+As S.A.8.	2010	TINF2
6	Mutations in C16orf57 and normal-length telomeres uni fy a subset of patients with dyskeratosis congenita, poikiloderma with neutrope nia and Rothmund-Thomson syndrome. (20817924)	Walne A.J.... Dokal I.	2010	USB1
7	Novel mutations of the DKC1 gene in individuals affec ted with dyskeratosis congenita. (19879169)	Rostamiani K.... Metzenberg A.B.	2010	DKC1
8	Molecular diagnosis and therapeutic measures in pati ents with dyskeratosis congenita (20153999)	Reiger Z.... Erdos M.	2010	DKC1
9	An atypical form of dyskeratosis congenita with renal agenesis and no mutation in DKC1, TERC and TERT genes. (19415813)	Balci S.... Vulliamy T.	2009	TERT, DKC1, TERC
10	Exogenous TERC alone can enhance proliferative potential, telomerase activity and telomere length in lymphocytes from dyskeratosis congenita patients. (19036115)	Kirwan M.... Dokal I.	2009	DKC1, NHP2, NOP10
11	Pot1b deletion and telomerase haploinsufficiency in mice initiate an ATR-dependent DNA damage response and elicit phenotypes resembling dyskeratosis congenita. (18936156)	He H.... Chang S.	2009	POT1
12	Dyskeratosis congenita, stem cells and telomeres. (19419704)	Kirwan M.... Dokal I.	2009	TERT, DKC1, NHP2
13	TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. (18252230)	Savage S.A.... Alter B.P.	2008	TERT, DKC1, TINF2
14	Dyskeratosis congenita, a disease caused by defective telomere maintenance (18405638)	Hoareau-Aveilla C.... Leblanc T.	2008	DKC1, NOP10
15	Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. (18042801)	Du H.Y.... Bessler M.	2008	TERT, TERC
16	TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. (18669893)	Walne A.J.... Dokal I.	2008	TERT, DKC1, NHP2
17	Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. (18460650)	Basel-Vanagaite L.... Vulliamy T.	2008	TERT
18	Dyskeratosis congenita: a genetic disorder of many faces. (18005359)	Kirwan M.... Dokal I.	2008	DKC1
19	Dyskeratosis congenita: the diverse clinical presenta tion of mutations in the telomerase complex. (17825470)	Vulliamy T.J.... Dokal I.	2008	DKC1
20	The impact of dyskeratosis congenita mutations on the structure and dynamics of the human telomerase RNA pseudoknot domain. (17206847)	Yingling Y.G.... Shapiro B.A.	2007	TERC
21	Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. (17785587)	Marrone A.... Dokal I.	2007	TERT, DKC1
22	Telomere restoration and extension of proliferative lifespan in dyskeratosis congenita fibroblasts. (17381549)	Westin E.R.... Klingelhutz A.J.	2007	TERT
23	Dyskeratosis congenita in a 40-year-old patient (15789197)	Benoit S.... Goebeler M.	2006	DKC1
24	Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. (16332973)	Vulliamy T.J.... Dokal I.	2006	TERT, DKC1, TERC
25	Crystal structure of a Cbf5-Nop10-Gar1 complex and implications in RNA-guided pseudouridylation and dyskeratosis congenita. (16427014)	Rashid R.... Li H.	2006	DKC1, GAR1, NOP10
26	Dyskeratosis congenita: a disorder of defective telomere maintenance? (16207588)	Walne A.J.... Dokal I.	2005	DKC1
27	Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. (16247010)	Armanios M.... Greider C.W.	2005	TERT
28	Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita. (15886322)	Ly H.... Lansdorp P.M.	2005	TERC
29	Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. (15098033)	Vulliamy T.... Dokal I.	2004	TERC
30	Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. (15319288)	Marrone A.... Mason P.J.	2004	TERC
31	Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer. (15613268)	Marrone A.... Dokal I.	2004	DKC1, TERC
32	Dyskeratosis congenita and telomerase. (14758110)	Bessler M.... Mason P.J.	2004	DKC1
33	Telomerase RNA structure and function: implications f or dyskeratosis congenita. (15082312)	Chen J.L.... Greider C.W.	2004	TERC
34	Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome). (14648217)	Sznajer Y.... Verloes A.	2003	DKC1
35	Missense mutation in a patient with X-linked dyskeratosis congenita. (12681984)	Kraemer D.M.... Goebeler M.	2003	DKC1
36	Dyskeratosis congenita. (12737310)	Marrone A.... Mason P.J.	2003	DKC1
37	Treatment of dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor and erythropoietin. (12679652)	Erduran E.... Ozoran Y.	2003	CSF2
38	The human TruB family of pseudouridine synthase genes, including the Dyskeratosis Congenita 1 gene and the novel member TRUB1. (12736709)	Zucchini C.... Valvassori L.	2003	DKC1, TRUB1, TRUB2
39	DKC1 gene mutation in a Taiwanese kindred with X-linked dyskeratosis congenita. (12513020)	Lin J.H.... Chao S.C.	2002	DKC1
40	Increased mortality rate and not impaired ribosomal biogenesis is responsible for proliferative defect in dyskeratosis congenita cell lines. (11851894)	Montanaro L.... Derenzini M.	2002	DKC1
41	A novel missense mutation in the DKC1 gene in a Japanese family with X-linked dyskeratosis congenita. (12186364)	Hiramatsu H.... Okuno T.	2002	DKC1
42	X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation. (11641517)	Safa W.F.... Frossard P.M.	2001	DKC1
43	Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita. (11259155)	Vulliamy T.J.... Dokal I.	2001	DKC1
44	Gene structure and expression of the mouse dyskeratosis congenita gene, dkc1. (10903840)	Heiss N.S.... Poustka A.	2000	DKC1, TERC
45	Genetic analysis of a patient with dyskeratosis congenita (10921354)	Yoshimoto T.... Nunoi H.	2000	DKC1
46	Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier. (10438713)	Vulliamy T.J.... Mason P.J.	1999	DKC1
47	Dyskeratosis congenita: new clinical and molecular insights into ribosome function. (10217077)	McGrath J.A.	1999	DKC1
48	Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. (9042917)	Devriendt K.... Fryns J.P.	1997	DKC1
49	Dyskeratosis Congenita (20301779)	Savage S.A.	1993	TERT, DKC1, NHP2
50	Treatment of neutropenia associated with dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor. (1975922)	Russo C.L.... Galasso F.	1990	CSF2

Genes related to dyskeratosis congenita according to GeneCards:

(show all 37)

id	Symbol	Description	Score	GeneCards Section Context
1	DKC1	dyskeratosis congenita 1, dyskerin	11.1	Publications, Orthologs, Aliases & Descriptions, Summaries (show all 5 sections) Transcripts
2	TERC	telomerase RNA component	11.1	Publications, Summaries
3	TINF2	TERF1 (TRF1)-interacting nuclear factor 2	11.1	Publications, Summaries
4	MAGEA5	melanoma antigen family A, 5	11.1	Summaries
5	MAGEA9	melanoma antigen family A, 9	11.1	Summaries
6	MAGEA6	melanoma antigen family A, 6	11.1	Summaries
7	MAGEA8	melanoma antigen family A, 8	11.1	Summaries
8	MAGEA10	melanoma antigen family A, 10	11.1	Summaries
9	MAGEA12	melanoma antigen family A, 12	11.1	Summaries
10	MAGEA2	melanoma antigen family A, 2	11.1	Summaries
11	MAGEA11	melanoma antigen family A, 11	11.1	Summaries
12	MAGEA1	melanoma antigen family A, 1 (directs expression of antigen MZ2-E)	11.1	Summaries
13	MAGEA4	melanoma antigen family A, 4	11.1	Summaries
14	MAGEA3	melanoma antigen family A, 3	11.1	Summaries
15	TERT	telomerase reverse transcriptase	11.1	Publications
16	NOP10	NOP10 ribonucleoprotein homolog (yeast)	11.0	Publications
17	NHP2	NHP2 ribonucleoprotein homolog (yeast)	11.0	Publications
18	WRAP53	WD repeat containing, antisense to TP53	11.0	Publications
19	TRUB2	TruB pseudouridine (psi) synthase homolog 2 (E. coli)	11.0	Publications
20	TRUB1	TruB pseudouridine (psi) synthase homolog 1 (E. coli)	11.0	Publications
21	CSF2	colony stimulating factor 2 (granulocyte-macrophage)	11.0	Publications
22	KITLG	KIT ligand	11.0
23	MAGEA2B	melanoma antigen family A, 2B	11.0	Summaries
24	GAR1	GAR1 ribonucleoprotein homolog (yeast)	11.0	Publications
25	BGN	biglycan	11.0	Publications
26	SBDS	Shwachman-Bodian-Diamond syndrome	11.0
27	NAF1	nuclear assembly factor 1 homolog (S. cerevisiae)	11.0
28	OBFC1	oligonucleotide/oligosaccharide-binding fold containing 1	11.0
29	TERF2IP	telomeric repeat binding factor 2, interacting protein	11.0
30	POT1	protection of telomeres 1 homolog (S. pombe)	11.0	Publications
31	SHQ1	SHQ1 homolog (S. cerevisiae)	11.0
32	TERF1	telomeric repeat binding factor (NIMA-interacting) 1	11.0
33	XIAP	X-linked inhibitor of apoptosis	11.0	Publications
34	IL3	interleukin 3 (colony-stimulating factor, multiple)	11.0	Publications
35	ALB	albumin	11.0	Publications
36	TP53	tumor protein p53	11.0	Publications
37	USB1	U6 snRNA biogenesis 1	10.2	Publications

Pathways related to dyskeratosis congenita according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Ribosome biogenesis in eukaryotes20	9.5	SBDS, NOP10, DKC1, NHP2, GAR1
2	Telomere Extension by Telomerase36	9.1	TERF1, TERF2IP, TERT, TINF2, POT1
3	Chromosome Maintenance38	8.7	POT1, DKC1, TINF2, TERT, TERF2IP, TERF1
4	Telomerase Components in Cell Signaling36	7.7	POT1, DKC1, TINF2, TERT, TERF1, TP53

Compounds related to dyskeratosis congenita according to GeneDecks:

(show all 35)

id	Compound	Score	Top Affiliating Genes
1	uridine32 9 18 9	13.1	GAR1, DKC1, NOP10, TERC
2	bmmp32	10.0	CSF2, IL3
3	pkh 232	10.0	IL3, KITLG
4	as 10132	9.9	CSF2, IL3, KITLG
5	mafosfamide32	9.9	CSF2, IL3, KITLG
6	daniplestim32	9.9	IL3, KITLG
7	4-hydroperoxycyclophosphamide32	9.9	KITLG, IL3, CSF2
8	pixy32132	9.9	KITLG, IL3, CSF2
9	filgrastim32 9 9	11.8	KITLG, IL3, CSF2
10	pseudouridine32 18	10.7	TRUB2, GAR1, NHP2, DKC1, NOP10, TERC
11	molgramostim32	9.6	IL3, CSF2
12	gm-csf32	9.6	KITLG, IL3, CSF2
13	bryostatin 132	9.5	XIAP, IL3, CSF2
14	pegfilgrastim32 9 9	11.4	IL3, CSF2
15	tin(2+)32	9.4	POT1, TINF2, TERT, TERF2IP, TERF1, TERC
16	daunorubicin32 9 9	11.3	CSF2, IL3, XIAP, KITLG
17	amifostine32 9 9	11.1	CSF2, TP53, IL3, KITLG
18	depsipeptide32	9.1	TERT, TP53, IL3, KITLG
19	agar32	9.1	CSF2, TERC, IL3, XIAP, KITLG
20	zidovudine32 9 9	11.0	CSF2, TERT, TERC, ALB, IL3, KITLG
21	hydroxyurea32 9 9	10.9	CSF2, TP53, IL3, KITLG
22	5-aza-2deoxycytidine32	8.8	KITLG, IL3, MAGEA1, TP53, TERT
23	adpribose32	8.8	TINF2, TERT, TERF1, TERC, TP53, XIAP
24	adriamycin32	8.7	TERT, TERC, TP53, IL3, XIAP
25	paraffin32	8.7	TERT, TERC, TP53, MAGEA1, MAGEA3, XIAP
26	calcitriol32 42 9 18 9	12.7	CSF2, TERT, ALB, IL3, XIAP, KITLG
27	carboplatin32 34 9 9	11.6	CSF2, TP53, IL3, XIAP, KITLG
28	cytarabine32 34 9 9	11.6	CSF2, TP53, IL3, XIAP, KITLG
29	sulindac32 9 9	10.6	XIAP, ALB, TP53
30	etoposide32 42 9 9	11.5	CSF2, TERT, TERC, TP53, IL3, XIAP
31	vincristine32 34 9 9	11.5	CSF2, TP53, IL3, XIAP
32	5fluorouracil32	8.4	CSF2, TERT, TERC, TP53, IL3, XIAP
33	butyrate32	8.4	CSF2, TERT, TERC, TP53, IL3, XIAP
34	doxorubicin32 34 9 9	11.3	CSF2, TERT, TERC, TP53, IL3, XIAP
35	cisplatin32 34 9 9	11.3	CSF2, TERT, TERC, TP53, IL3, XIAP

Cellular components related to dyskeratosis congenita according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	telomerase holoenzyme complex	GO:005697	9.9	TERT, DKC1, WRAP53
2	small nucleolar ribonucleoprotein complex	GO:005732	9.5	NHP2, NOP10, NAF1
3	Cajal body	GO:015030	9.3	GAR1, WRAP53, NHP2, DKC1, SHQ1, NOP10
4	nuclear telomere cap complex	GO:000783	9.2	TERF1, TERF2IP, TERT, TINF2, POT1
5	chromosome, telomeric region	GO:000781	9.1	POT1, TINF2, TERT, TERF2IP, TERF1
6	nucleoplasm	GO:005654	7.6	DKC1, TINF2, SHQ1, TERT, TERF2IP, TERF1

Biological processes related to dyskeratosis congenita according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	protein localization to chromosome, telomeric region	GO:070198	10.0	TERF2IP, TINF2
2	pseudouridine synthesis	GO:001522	10.0	DKC1, NOP10, TRUB1, TRUB2
3	telomere formation via telomerase	GO:032203	10.0	TERT, POT1, WRAP53
4	telomere maintenance via telomere lengthening	GO:010833	9.9	OBFC1, TINF2, TERF2IP
5	snRNA pseudouridine synthesis	GO:031120	9.9	NAF1, GAR1
6	negative regulation of telomere maintenance via telomerase	GO:032211	9.7	TERF1, TINF2, POT1
7	positive regulation of telomerase activity	GO:051973	9.6	POT1, WRAP53
8	rRNA processing	GO:006364	9.5	GAR1, DKC1, NOP10, SBDS, NAF1
9	telomere maintenance via telomerase	GO:007004	9.3	POT1, DKC1, TERT, TERF2IP, TERF1
10	positive regulation of DNA replication	GO:045740	9.2	CSF2, OBFC1, IL3, KITLG
11	telomere maintenance	GO:000723	9.0	TERF1, TERF2IP, TERT, TINF2, DKC1, OBFC1

Molecular functions related to dyskeratosis congenita according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	telomerase activity	GO:003720	10.2	TERT, DKC1
2	pseudouridine synthase activity	GO:009982	9.8	GAR1, DKC1, TRUB1, TRUB2
3	snoRNA binding	GO:030515	9.8	GAR1, NHP2, NAF1
4	telomerase inhibitor activity	GO:010521	9.6	TERF1, POT1
5	telomeric DNA binding	GO:042162	9.6	TERF1, TERF2IP, TERT, TINF2
6	single-stranded telomeric DNA binding	GO:043047	9.5	OBFC1, POT1
7	protein binding	GO:005515	4.2	TERF2IP, TERT, NOP10, SHQ1, TINF2, DKC1