Dyskeratosis Congenita Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

DKCA MCID: DYS039 MIFTS: 31	Dyskeratosis Congenita Autosomal Dominant (DKCA) Categories: Blood diseases, Bone diseases, Cancer diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Dyskeratosis Congenita Autosomal Dominant

MalaCards integrated aliases for Dyskeratosis Congenita Autosomal Dominant:

Name: Dyskeratosis Congenita Autosomal Dominant ²⁰ ⁶

Dyskeratosis Congenita, Autosomal Dominant ⁵⁴ ⁷¹

Autosomal Dominant Dyskeratosis Congenita ²⁰

Dyskeratosis Congenita Scoggins Type ²⁰

Dkca ²⁰

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases Cancer diseases
Anatomical: Neuronal diseases Eye diseases Skin diseases Blood diseases Bone diseases Immune diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷¹ C1851970

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Summaries for Dyskeratosis Congenita Autosomal Dominant

MalaCards based summary : Dyskeratosis Congenita Autosomal Dominant, also known as dyskeratosis congenita, autosomal dominant, is related to dyskeratosis congenita, autosomal dominant 2 and dyskeratosis congenita, autosomal recessive 5. An important gene associated with Dyskeratosis Congenita Autosomal Dominant is TERC (Telomerase RNA Component), and among its related pathways/superpathways are Chromosome Maintenance and DNA Damage/Telomere Stress Induced Senescence. Related phenotype is neoplasm.

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Related Diseases for Dyskeratosis Congenita Autosomal Dominant

Diseases in the Dyskeratosis Congenita family:

Dyskeratosis Congenita, Autosomal Dominant 1	Dyskeratosis Congenita, Autosomal Recessive 1
Dyskeratosis Congenita, Autosomal Recessive 2	Dyskeratosis Congenita, Autosomal Recessive 3
Dyskeratosis Congenita, Autosomal Dominant 2	Dyskeratosis Congenita, Autosomal Dominant 3
Dyskeratosis Congenita, Autosomal Recessive 5	Dyskeratosis Congenita, Autosomal Recessive 6
Dyskeratosis Congenita, Autosomal Dominant 6	Dyskeratosis Congenita Autosomal Dominant
Dyskeratosis Congenita Autosomal Recessive

Diseases related to Dyskeratosis Congenita Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 39)

#	Related Disease	Score	Top Affiliating Genes
1	dyskeratosis congenita, autosomal dominant 2	33.0	TERT LOC110806263
2	dyskeratosis congenita, autosomal recessive 5	32.9	RTEL1-TNFRSF6B RTEL1
3	dyskeratosis congenita, autosomal dominant 3	32.7	TINF2 TGM1
4	revesz syndrome	31.5	TINF2 TGM1 TERT TERC RTEL1 DKC1
5	pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	30.4	TERC LOC110806306
6	pulmonary fibrosis and/or bone marrow failure, telomere-related, 1	29.9	TERT RTEL1-TNFRSF6B RTEL1 LOC110806263
7	pulmonary fibrosis	29.8	TINF2 TERT TERC RTEL1 ACD
8	pancytopenia	29.8	TERT MECOM DKC1
9	dyskeratosis congenita, autosomal dominant 1	29.6	TINF2 TGM1 TERT TERC RTEL1-TNFRSF6B RTEL1
10	pulmonary fibrosis, idiopathic	29.0	TINF2 TERT TERC RTEL1-TNFRSF6B RTEL1 LOC110806263
11	dyskeratosis congenita	27.2	TINF2 TGM1 TERT TERC RTEL1-TNFRSF6B RTEL1
12	dyskeratosis congenita, autosomal dominant 6	11.8
13	leukoplakia	10.3
14	inherited bone marrow failure syndromes	10.2	TERT TERC
15	postinflammatory pulmonary fibrosis	10.2	TERT TERC
16	pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	10.1	RTEL1-TNFRSF6B RTEL1
17	dowling-degos disease 1	10.1
18	retinal ischemia	10.1
19	telangiectasis	10.1
20	agammaglobulinemia	10.1
21	lymphopenia	10.1
22	oral leukoplakia	10.1
23	congenital intrauterine infection-like syndrome	10.1	TERC DKC1
24	torch syndrome	10.1	TERC DKC1
25	cervical intraepithelial neoplasia	10.1	TERT TERC
26	chronic congestive splenomegaly	10.0	TERT DKC1
27	retinal telangiectasia	10.0	TINF2 DKC1
28	cerebellar hypoplasia	9.9	TINF2 RTEL1 DKC1
29	dyskeratosis congenita autosomal recessive	9.9	TERT RTEL1-TNFRSF6B RTEL1 ACD
30	acute interstitial pneumonia	9.9	TERT TERC RTEL1-TNFRSF6B LOC110806263
31	dyskeratosis congenita, x-linked	9.8	TINF2 TERT TERC DKC1
32	shwachman-diamond syndrome 1	9.8	TINF2 TERT TERC DKC1
33	melanoma, cutaneous malignant 1	9.8	TINF2 TERT TERC RTEL1 ACD
34	diamond-blackfan anemia	9.8	TINF2 TERT TERC DKC1
35	coats disease	9.6	TINF2 TERC RTEL1 DKC1 ACD
36	fanconi anemia, complementation group a	9.5	TINF2 TERC RTEL1 DKC1
37	hoyeraal hreidarsson syndrome	9.5	TINF2 TERT TERC RTEL1 DKC1 ACD
38	myelodysplastic syndrome	9.5	TERT TERC RTEL1 MECOM
39	aplastic anemia	9.1	TINF2 TERT TERC RTEL1 LOC110806306 LOC110806263

Graphical network of the top 20 diseases related to Dyskeratosis Congenita Autosomal Dominant:

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Symptoms & Phenotypes for Dyskeratosis Congenita Autosomal Dominant

MGI Mouse Phenotypes related to Dyskeratosis Congenita Autosomal Dominant:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	neoplasm	MP:0002006	9.02	ACD DKC1 MECOM RTEL1 TERT

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Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Dyskeratosis Congenita Autosomal Dominant

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Genetic Tests for Dyskeratosis Congenita Autosomal Dominant

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Anatomical Context for Dyskeratosis Congenita Autosomal Dominant

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Publications for Dyskeratosis Congenita Autosomal Dominant

Articles related to Dyskeratosis Congenita Autosomal Dominant:

(show all 18)

#	Title	Authors	PMID	Year
1	The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. ⁶ ⁵⁴	Vulliamy T...Dokal I	11574891	2001
2	Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. ⁶	Jongmans MC...Kuiper RP	22341970	2012
3	Structural analysis and anti-complement activity of polysaccharides from Kjellmaniella crsaaifolia. ⁶¹	Zhang W...Zhang Q	25786064	2015
4	Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. ⁵⁴	Basel-Vanagaite L...Vulliamy T	18460650	2008
5	Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. ⁵⁴	Du HY...Bessler M	18042801	2008
6	Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome. ⁵⁴	Du HY...Bessler M	17875000	2007
7	Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. ⁵⁴	Marrone A...Dokal I	17640862	2007
8	Telomerase mutations in families with idiopathic pulmonary fibrosis. ⁵⁴	Armanios MY...Loyd JE	17392301	2007
9	The impact of dyskeratosis congenita mutations on the structure and dynamics of the human telomerase RNA pseudoknot domain. ⁵⁴	Yingling YG...Shapiro BA	17206847	2007
10	Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome. ⁵⁴	Field JJ...Wilson DB	16825992	2006
11	TERC mutations in children with refractory cytopenia. ⁵⁴	Ortmann CA...Kratz CP	16670076	2006
12	The effect of TERC haploinsufficiency on the inheritance of telomere length. ⁵⁴	Goldman F...Bessler M	16284252	2005
13	Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. ⁵⁴	Armanios M...Greider CW	16247010	2005
14	Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. ⁵⁴	Marrone A...Mason PJ	15319288	2004
15	Dyskeratosis congenita and telomerase. ⁵⁴	Bessler M...Mason PJ	14758110	2004
16	Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. ⁵⁴	Yamaguchi H...Young NS	12676774	2003
17	Phase diagram of a probabilistic cellular automaton with three-site interactions. ⁶¹	Atman AP...Moreira JG	12636564	2003
18	Quasistationary distributions for the Domany-Kinzel stochastic cellular automaton. ⁶¹	Atman AP...Dickman R	12443287	2002

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Genes for Dyskeratosis Congenita Autosomal Dominant

Genes related to Dyskeratosis Congenita Autosomal Dominant (6 elite genes):

(show all 13)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TERC	Telomerase RNA Component	RNA Gene	446.1	Pathogenic ⁶ Likely pathogenic ⁶ Novoseek inferred ⁵⁴ GeneCards inferred via : Variants (show sections)	11574891 17206847 16284252 (more) 17392301 12676774 16670076 17875000 17640862 15319288 16825992 18042801
2	TERT	Telomerase Reverse Transcriptase	Protein Coding	431.36	Pathogenic ⁶ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders Variants (show sections)	16247010 17392301 18460650 (more) 17875000 17640862
3	TINF2	TERF1 Interacting Nuclear Factor 2	Protein Coding	419.37	Pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)
4	LOC110806306	Telomerase RNA Component (TERC) Promoter	Biological Region	409.06	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
5	TGM1	Transglutaminase 1	Protein Coding	407.69	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
6	ACTRT3	Actin Related Protein T3	Protein Coding	407.34	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
7	INPP4A	Inositol Polyphosphate-4-Phosphatase Type I A	Protein Coding	32.34	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
8	ACD	ACD Shelterin Complex Subunit And Telomerase Recruitment Factor	Protein Coding	19.42	GeneCards inferred via : Disorders Variants (show sections)
9	RTEL1	Regulator Of Telomere Elongation Helicase 1	Protein Coding	18.6	GeneCards inferred via : Disorders Variants (show sections)
10	DKC1	Dyskerin Pseudouridine Synthase 1	Protein Coding	10.22	Novoseek inferred ⁵⁴	14758110
11	LOC110806263	TERT 5' Regulatory Region	Biological Region	9.27	GeneCards inferred via : Variants (show sections)
12	RTEL1-TNFRSF6B	RTEL1-TNFRSF6B Readthrough (NMD Candidate)	RNA Gene	9.03	GeneCards inferred via : Variants (show sections)
13	MECOM	MDS1 And EVI1 Complex Locus	Protein Coding	7.89	GeneCards inferred via : Variants (show sections)

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Variations for Dyskeratosis Congenita Autosomal Dominant

ClinVar genetic disease variations for Dyskeratosis Congenita Autosomal Dominant:

⁶ (show top 50) (show all 203)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TERC	NR_001566.1(TERC):n.374_1194del821	Deletion	Pathogenic	7319	rs1553915517	3:169481651-169482471	3:169763863-169764683
2	TERC	NR_001566.1(TERC):n.408C>G	SNV	Pathogenic	7320	rs199422284	3:169482441-169482441	3:169764653-169764653
3	TINF2	NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser)	SNV	Pathogenic	38915	rs199422321	14:24709980-24709980	14:24240774-24240774
4	TINF2	NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr)	SNV	Pathogenic	38916	rs142777869	14:24709952-24709952	14:24240746-24240746
5	TINF2	NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu)	SNV	Pathogenic	5624	rs121918543	14:24709848-24709848	14:24240642-24240642
6	TINF2	NM_001099274.3(TINF2):c.838A>T (p.Lys280Ter)	SNV	Pathogenic	38917	rs121918543	14:24709848-24709848	14:24240642-24240642
7	TGM1	NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)	SNV	Pathogenic	38918	rs199422322	14:24709845-24709845	14:24240639-24240639
8	TINF2	NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser)	SNV	Pathogenic	5626	rs121918545	14:24709842-24709842	14:24240636-24240636
9	TINF2	NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)	SNV	Pathogenic	5627	rs121918545	14:24709842-24709842	14:24240636-24240636
10	TINF2	NM_001099274.3(TINF2):c.847C>G (p.Pro283Ala)	SNV	Pathogenic	38919	rs199422311	14:24709839-24709839	14:24240633-24240633
11	TINF2	NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser)	SNV	Pathogenic	38920	rs199422311	14:24709839-24709839	14:24240633-24240633
12	TINF2	NM_001099274.3(TINF2):c.848C>A (p.Pro283His)	SNV	Pathogenic	38921	rs199422313	14:24709838-24709838	14:24240632-24240632
13	TINF2	NM_001099274.3(TINF2):c.849dup (p.Thr284fs)	Duplication	Pathogenic	38922	rs199422315	14:24709836-24709837	14:24240630-24240631
14	TINF2	NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala)	SNV	Pathogenic	38923	rs199422314	14:24709836-24709836	14:24240630-24240630
15	TINF2	NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro)	SNV	Pathogenic	38924	rs199422316	14:24709826-24709826	14:24240620-24240620
16	TINF2	NM_001099274.3(TINF2):c.865_866delinsAG (p.Pro289Ser)	Indel	Pathogenic	38926	rs199422318	14:24709820-24709821	14:24240614-24240615
17	TINF2	NM_001099274.3(TINF2):c.871A>G (p.Arg291Gly)	SNV	Pathogenic	38927	rs199422319	14:24709815-24709815	14:24240609-24240609
18	TINF2	NM_001099274.3(TINF2):c.892del (p.Gln298fs)	Deletion	Pathogenic	38928	rs199422320	14:24709794-24709794	14:24240588-24240588
19	TERT	TERT:c.1710G>Y (p.Lys570Asn)	SNV	Pathogenic	39103	rs1554041299	5:1282603-1282603	5:1282488-1282488
20	TERT	NM_198253.3(TERT):c.2029G>T (p.Gly677Cys)	SNV	Pathogenic	39105	rs199422296	5:1279507-1279507	5:1279392-1279392
21	TERT	NM_198253.3(TERT):c.2045G>A (p.Gly682Asp)	SNV	Pathogenic	39106	rs199422295	5:1279491-1279491	5:1279376-1279376
22	TERT	NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)	SNV	Pathogenic	39108	rs199422297	5:1279426-1279426	5:1279311-1279311
23	TERT	NM_198253.3(TERT):c.2162C>G (p.Pro721Arg)	SNV	Pathogenic	39110	rs199422299	5:1278880-1278880	5:1278765-1278765
24	TERT	NM_198253.3(TERT):c.2177C>T (p.Thr726Met)	SNV	Pathogenic	39111	rs149566858	5:1278865-1278865	5:1278750-1278750
25	TERT	NM_198253.2(TERT):c.2706G>C (p.Lys902Asn)	SNV	Pathogenic	12735	rs121918665	5:1264656-1264656	5:1264541-1264541
26	TERT	NM_198253.3(TERT):c.2935C>T (p.Arg979Trp)	SNV	Pathogenic	39118	rs199422305	5:1260624-1260624	5:1260509-1260509
27	TERC	NR_001566.1(TERC):n.100T>A	SNV	Pathogenic	39280	rs199422269	3:169482749-169482749	3:169764961-169764961
28	TERC	NR_001566.1(TERC):n.116C>T	SNV	Pathogenic	7326	rs199422272	3:169482733-169482733	3:169764945-169764945
29	TERC	NR_001566.1(TERC):n.143G>A	SNV	Pathogenic	39282	rs199422274	3:169482706-169482706	3:169764918-169764918
30	TERC	NR_001566.1(TERC):n.204C>G	SNV	Pathogenic	7322	rs199422277	3:169482645-169482645	3:169764857-169764857
31	TERC	NR_001566.1(TERC):n.216_229del	Deletion	Pathogenic	39285	rs199422278	3:169482620-169482633	3:169764832-169764845
32	TERC	NR_001566.1(TERC):n.410C>G	SNV	Pathogenic	39295	rs199422286	3:169482439-169482439	3:169764651-169764651
33	LOC110806306	NR_001566.1(TERC):n.48A>G	SNV	Pathogenic	39297	rs199422262	3:169482801-169482801	3:169765013-169765013
34	LOC110806306	NR_001566.1(TERC):n.53_87del	Deletion	Pathogenic	39299	rs199422264	3:169482762-169482796	3:169764974-169765008
35	TERC	NR_001566.1(TERC):n.79del	Deletion	Pathogenic	39300	rs199422266	3:169482770-169482770	3:169764982-169764982
36	TERC	NR_001566.1(TERC):n.96_97del	Deletion	Pathogenic	39301	rs199422267	3:169482752-169482753	3:169764964-169764965
37	ACTRT3	NM_032487.4(ACTRT3):c.831_*2687del2976	Deletion	Pathogenic	40977		3:169482529-169485504	3:169764741-169767716
38	LOC110806306	NR_001566.1(TERC):n.2G>C	SNV	Pathogenic	39288	rs199422257	3:169482847-169482847	3:169765059-169765059
39	LOC110806306	NR_001566.1(TERC):n.35C>T	SNV	Pathogenic	39292	rs199422260	3:169482814-169482814	3:169765026-169765026
40	TERC	NR_001566.1(TERC):n.107_108delinsAG	Indel	Pathogenic	7321	rs199476393	3:169482741-169482742	3:169764953-169764954
41	TERC	NR_001566.1(TERC):n.-240_-239del	Microsatellite	Pathogenic	39279	rs199422255	3:169483087-169483088	3:169765299-169765300
42	TERC	NR_001566.1(TERC):n.110_113del	Deletion	Pathogenic	7325	rs199422270	3:169482736-169482739	3:169764948-169764951
43	LOC110806306	NR_001566.1(TERC):n.67del	Deletion	Pathogenic	950972		3:169482782-169482782	3:169764994-169764994
44	LOC110806306	NR_001566.1(TERC):n.54_57del	Deletion	Pathogenic	30265	rs199422263	3:169482792-169482795	3:169765004-169765007
45	TERC	NC_000003.12:g.(?_169481351)_(169484227_?)del	Deletion	Likely pathogenic	972905			3:169481351-169484227
46	TERC	NM_004991.4(MECOM):c.38-100973_38-100960del	Deletion	Likely pathogenic	972906		3:169200272-169200285	3:169482484-169482497
47	TERC	NR_001566.1(TERC):n.443C>A	SNV	Likely pathogenic	436977	rs1553915577	3:169482406-169482406	3:169764618-169764618
48	TERC	NR_001566.1(TERC):n.306T>G	SNV	Likely pathogenic	436976	rs1553915591	3:169482543-169482543	3:169764755-169764755
49	TERC	NM_004991.4(MECOM):c.38-101211_38-101210del	Deletion	Likely pathogenic	916672		3:169200522-169200523	3:169482734-169482735
50	TERC	NM_004991.4(MECOM):c.38-101210del	Deletion	Likely pathogenic	916673		3:169200522-169200522	3:169482734-169482734

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Expression for Dyskeratosis Congenita Autosomal Dominant

Search GEO for disease gene expression data for Dyskeratosis Congenita Autosomal Dominant.

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Pathways for Dyskeratosis Congenita Autosomal Dominant

Pathways related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Chromosome Maintenance ⁶⁵ Show member pathways Deposition of new CENPA-containing nucleosomes at the centromere ⁶⁵ Nucleosome assembly ⁶⁵ Telomere Maintenance ⁶⁵	11.79	TINF2 TERT DKC1 ACD
2	DNA Damage/Telomere Stress Induced Senescence ⁶⁵ Show member pathways Formation of Senescence-Associated Heterochromatin Foci (SAHF) ⁶⁵ Packaging Of Telomere Ends ⁶⁵ Signal transduction Activin A signaling regulation ²³	11.68	TINF2 MECOM ACD
3	Regulation of Telomerase ¹	10.74	TINF2 TERT DKC1 ACD

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GO Terms for Dyskeratosis Congenita Autosomal Dominant

Cellular components related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	shelterin complex	GO:0070187	9.37	TINF2 ACD
2	chromosome, telomeric region	GO:0000781	9.35	TINF2 TERT TERC RTEL1 ACD
3	nuclear telomere cap complex	GO:0000783	9.33	TINF2 TERT ACD
4	box H/ACA telomerase RNP complex	GO:0090661	9.32	TERC DKC1
5	telomerase catalytic core complex	GO:0000333	9.26	TERT TERC
6	telomerase holoenzyme complex	GO:0005697	8.92	TERT TERC DKC1 ACD

Biological processes related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 12)

#	Name	GO ID	Score	Top Affiliating Genes
1	DNA biosynthetic process	GO:0071897	9.51	TERT TERC
2	positive regulation of telomerase activity	GO:0051973	9.49	DKC1 ACD
3	positive regulation of telomere maintenance via telomerase	GO:0032212	9.48	DKC1 ACD
4	telomere capping	GO:0016233	9.46	TINF2 ACD
5	negative regulation of cellular senescence	GO:2000773	9.43	TERT TERC
6	negative regulation of telomere maintenance via telomerase	GO:0032211	9.4	TINF2 ACD
7	regulation of double-strand break repair via homologous recombination	GO:0010569	9.37	RTEL1-TNFRSF6B RTEL1
8	protein localization to chromosome, telomeric region	GO:0070198	9.32	TINF2 ACD
9	establishment of protein localization to telomere	GO:0070200	9.26	TERT ACD
10	telomere maintenance	GO:0000723	9.26	TERT RTEL1-TNFRSF6B RTEL1 ACD
11	telomere assembly	GO:0032202	9.16	TINF2 ACD
12	telomere maintenance via telomerase	GO:0007004	8.92	TERT TERC DKC1 ACD

Molecular functions related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	4 iron, 4 sulfur cluster binding	GO:0051539	9.43	RTEL1-TNFRSF6B RTEL1
2	telomerase RNA binding	GO:0070034	9.4	TERT DKC1
3	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	9.37	RTEL1-TNFRSF6B RTEL1
4	telomeric DNA binding	GO:0042162	9.33	TINF2 TERT ACD
5	RNA-directed DNA polymerase activity	GO:0003964	9.32	TERT TERC
6	telomerase RNA reverse transcriptase activity	GO:0003721	9.26	TERT TERC
7	DNA polymerase binding	GO:0070182	9.13	TERC RTEL1 ACD
8	telomerase activity	GO:0003720	8.8	TERT TERC DKC1

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Sources for Dyskeratosis Congenita Autosomal Dominant

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

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Dyskeratosis Congenita Autosomal Dominant (DKCA)

Aliases & Classifications for Dyskeratosis Congenita Autosomal Dominant

MalaCards integrated aliases for Dyskeratosis Congenita Autosomal Dominant:

Classifications:

External Ids:

Summaries for Dyskeratosis Congenita Autosomal Dominant

Related Diseases for Dyskeratosis Congenita Autosomal Dominant

Diseases in the Dyskeratosis Congenita family:

Diseases related to Dyskeratosis Congenita Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Dyskeratosis Congenita Autosomal Dominant:

Symptoms & Phenotypes for Dyskeratosis Congenita Autosomal Dominant

MGI Mouse Phenotypes related to Dyskeratosis Congenita Autosomal Dominant:

Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Dominant

Genetic Tests for Dyskeratosis Congenita Autosomal Dominant

Anatomical Context for Dyskeratosis Congenita Autosomal Dominant

Publications for Dyskeratosis Congenita Autosomal Dominant

Articles related to Dyskeratosis Congenita Autosomal Dominant:

Genes for Dyskeratosis Congenita Autosomal Dominant

Genes related to Dyskeratosis Congenita Autosomal Dominant (6 elite genes):

Variations for Dyskeratosis Congenita Autosomal Dominant

ClinVar genetic disease variations for Dyskeratosis Congenita Autosomal Dominant:

Expression for Dyskeratosis Congenita Autosomal Dominant

Pathways for Dyskeratosis Congenita Autosomal Dominant

Pathways related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

GO Terms for Dyskeratosis Congenita Autosomal Dominant

Cellular components related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

Biological processes related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

Molecular functions related to Dyskeratosis Congenita Autosomal Dominant according to GeneCards Suite gene sharing:

Sources for Dyskeratosis Congenita Autosomal Dominant