Dyskeratosis Congenita, Autosomal Dominant 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

DKCA1 MCID: DYS141 MIFTS: 38	Dyskeratosis Congenita, Autosomal Dominant 1 (DKCA1) Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Neuronal diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Dyskeratosis Congenita, Autosomal Dominant 1

MalaCards integrated aliases for Dyskeratosis Congenita, Autosomal Dominant 1:

Name: Dyskeratosis Congenita, Autosomal Dominant 1 ⁵⁷ ¹³

Dyskeratosis Congenita, Scoggins Type ⁵⁷ ¹²

Dkca1 ⁵⁷ ¹²

Dyskeratosis Congenita, Autosomal Dominant, Type 1 ⁴⁰

Autosomal Dominant Dyskeratosis Congenita 1 ¹²

Dyskeratosis Congenita, Autosomal Dominant ⁷³

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal dominant

Miscellaneous:
highly variable phenotype
variable penetrance and expressivity
genetic anticipation associated with progressive telomere shortening
skin manifestations may not be present
median age of diagnosis is 28 years
median survival is > 50 years

HPO:

³²

dyskeratosis congenita, autosomal dominant 1:
Onset and clinical course phenotypic variability
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 127550

Disease Ontology ¹² DOID:0070014

MedGen ⁴² C1851970

SNOMED-CT via HPO ⁶⁹ 263681008 80967001 64859006 more

UMLS ⁷³ C1851970

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Summaries for Dyskeratosis Congenita, Autosomal Dominant 1

OMIM : ⁵⁷ Dyskeratosis congenita is a rare multisystem disorder caused by defective telomere maintenance. Clinical features are highly variable and include bone marrow failure, predisposition to malignancy, and pulmonary and hepatic fibrosis. The classic clinical triad of abnormal skin pigmentation, leukoplakia, and nail dystrophy is not always observed. Other features include premature graying of the hair, osteoporosis, epiphora, dental abnormalities and testicular atrophy, among others (review by Bessler et al., 2007 and Bessler et al., 2010). Hoyeraal-Hreidarsson syndrome (HHS) refers to a clinically severe variant of DKC that is characterized by multisystem involvement and early onset in utero. Patients with HHS show intrauterine growth retardation, microcephaly, delayed development, bone marrow failure resulting in immunodeficiency, cerebellar hypoplasia, and sometimes enteropathy. Death often occurs in childhood (summary by Walne et al., 2013). (127550)

MalaCards based summary : Dyskeratosis Congenita, Autosomal Dominant 1, also known as dyskeratosis congenita, scoggins type, is related to dyskeratosis congenita autosomal dominant and dyskeratosis congenita, x-linked. An important gene associated with Dyskeratosis Congenita, Autosomal Dominant 1 is TERC (Telomerase RNA Component), and among its related pathways/superpathways are Cell Cycle, Mitotic and Chromosome Maintenance. Affiliated tissues include skin, bone and bone marrow, and related phenotypes are ataxia and carious teeth

Disease Ontology : ¹² A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2.

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Related Diseases for Dyskeratosis Congenita, Autosomal Dominant 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)

#	Related Disease	Score	Top Affiliating Genes
1	dyskeratosis congenita autosomal dominant	31.6	TINF2 TERT TERC
2	dyskeratosis congenita, x-linked	31.4	TERC DKC1
3	dyskeratosis congenita, autosomal recessive 1	11.0
4	dyskeratosis congenita, autosomal recessive 2	11.0
5	dyskeratosis congenita, autosomal recessive 3	11.0
6	dyskeratosis congenita, autosomal dominant 2	11.0
7	dyskeratosis congenita, autosomal recessive 5	11.0
8	dyskeratosis congenita, autosomal recessive 6	11.0
9	dyskeratosis congenita, autosomal dominant 6	11.0
10	congenital intrauterine infection-like syndrome	10.0	TERC DKC1
11	torch syndrome	10.0	TERC DKC1
12	inherited bone marrow failure syndromes	9.9	TERT TERC
13	cervical intraepithelial neoplasia	9.9	TERC TERT
14	pancytopenia	9.9	DKC1 TERT
15	pulmonary fibrosis, idiopathic	9.8	TERC TERT
16	fanconi anemia, complementation group a	9.8	DKC1 TERC
17	pulmonary fibrosis	9.6	TINF2 TERT TERC
18	dyskeratosis congenita	9.5	TINF2 TERT TERC DKC1
19	revesz syndrome	9.5	TINF2 TERT TERC DKC1
20	aplastic anemia	9.5	TINF2 TERT TERC DKC1

Graphical network of the top 20 diseases related to Dyskeratosis Congenita, Autosomal Dominant 1:

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Symptoms & Phenotypes for Dyskeratosis Congenita, Autosomal Dominant 1

Symptoms via clinical synopsis from OMIM:

⁵⁷

Respiratory Lung:
pulmonary fibrosis
interstitial pneumonitis

Skin Nails Hair Nails:
nail dystrophy
nail pitting
nail ridging

Neoplasia:
squamous cell carcinoma of the skin

Head And Neck Mouth:
leukoplakia

Skin Nails Hair Skin:
reticulate hyperpigmentation
skin atrophy

Hematology:
anemia
pancytopenia
aplastic anemia
thrombocytopenia
lymphopenia
more

Skin Nails Hair Hair:
alopecia
sparse hair
hair loss
premature graying

Head And Neck Teeth:
early tooth loss
dental caries

Abdomen Liver:
liver cirrhosis

Laboratory Abnormalities:
shortened telomeres

Clinical features from OMIM:

127550

Human phenotypes related to Dyskeratosis Congenita, Autosomal Dominant 1:

³² (show all 25)

#	Description	HPO Source Accession
1	ataxia ³²	HP:0001251
2	carious teeth ³²	HP:0000670
3	osteoporosis ³²	HP:0000939
4	pulmonary fibrosis ³²	HP:0002206
5	anemia ³²	HP:0001903
6	bone marrow hypocellularity ³²	HP:0005528
7	aplastic anemia ³²	HP:0001915
8	myelodysplasia ³²	HP:0002863
9	nail dystrophy ³²	HP:0008404
10	specific learning disability ³²	HP:0001328
11	alopecia ³²	HP:0001596
12	cirrhosis ³²	HP:0001394
13	thrombocytopenia ³²	HP:0001873
14	premature graying of hair ³²	HP:0002216
15	cerebellar hypoplasia ³²	HP:0001321
16	lymphopenia ³²	HP:0001888
17	sparse hair ³²	HP:0008070
18	nail pits ³²	HP:0001803
19	ridged nail ³²	HP:0001807
20	oral leukoplakia ³²	HP:0002745
21	squamous cell carcinoma of the skin ³²	HP:0006739
22	interstitial pneumonitis ³²	HP:0006515
23	dermal atrophy ³²	HP:0004334
24	reticular hyperpigmentation ³²	HP:0007588
25	premature loss of teeth ³²	HP:0006480

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Drugs & Therapeutics for Dyskeratosis Congenita, Autosomal Dominant 1

Search Clinical Trials , NIH Clinical Center for Dyskeratosis Congenita, Autosomal Dominant 1

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Genetic Tests for Dyskeratosis Congenita, Autosomal Dominant 1

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Anatomical Context for Dyskeratosis Congenita, Autosomal Dominant 1

MalaCards organs/tissues related to Dyskeratosis Congenita, Autosomal Dominant 1:

⁴¹

Skin, Bone, Bone Marrow, Liver, Eye

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Publications for Dyskeratosis Congenita, Autosomal Dominant 1

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Genes for Dyskeratosis Congenita, Autosomal Dominant 1

Genes/enhancers related to Dyskeratosis Congenita, Autosomal Dominant 1 (3 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TERC	Telomerase RNA Component	RNA Gene	921.3	Molecular basis known ⁵⁷ Pathogenic ⁶ Novoseek inferred ⁵⁵	17206847 16284252 17392301 (more) 12676774 11574891 16670076 17875000 17640862 15319288 16825992 18042801
1	TERC::GH03J169762	TSS distance: +0.6kb Elite enhancer with elite association with TERC			Curated enhancer-disease association ²³ ( 27569544 )	16670076 22323451
2	TERT	Telomerase Reverse Transcriptase	Protein Coding	419.79	Pathogenic ⁶ Novoseek inferred ⁵⁵	16247010 17392301 18460650 (more) 17875000 17640862
3	TINF2	TERF1 Interacting Nuclear Factor 2	Protein Coding	400	Pathogenic ⁶
4	DKC1	Dyskerin Pseudouridine Synthase 1	Protein Coding	20.22	Novoseek inferred ⁵⁵	14758110

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Variations for Dyskeratosis Congenita, Autosomal Dominant 1

ClinVar genetic disease variations for Dyskeratosis Congenita, Autosomal Dominant 1:

⁶ (show top 50) (show all 179)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TINF2	NM_001099274.1(TINF2): c.838A> G (p.Lys280Glu)	single nucleotide variant	Pathogenic	rs121918543	GRCh37	Chromosome 14, 24709848: 24709848
2	TINF2	NM_001099274.1(TINF2): c.838A> G (p.Lys280Glu)	single nucleotide variant	Pathogenic	rs121918543	GRCh38	Chromosome 14, 24240642: 24240642
3	TINF2	NM_001099274.1(TINF2): c.844C> A (p.Arg282Ser)	single nucleotide variant	Pathogenic	rs121918545	GRCh37	Chromosome 14, 24709842: 24709842
4	TINF2	NM_001099274.1(TINF2): c.844C> A (p.Arg282Ser)	single nucleotide variant	Pathogenic	rs121918545	GRCh38	Chromosome 14, 24240636: 24240636
5	TINF2	NM_001099274.1(TINF2): c.844C> T (p.Arg282Cys)	single nucleotide variant	Pathogenic	rs121918545	GRCh37	Chromosome 14, 24709842: 24709842
6	TINF2	NM_001099274.1(TINF2): c.844C> T (p.Arg282Cys)	single nucleotide variant	Pathogenic	rs121918545	GRCh38	Chromosome 14, 24240636: 24240636
7	TERC	NR_001566.1(TERC): n.374_1194del821	deletion	Pathogenic		GRCh37	Chromosome 3, 169481655: 169482475
8	TERC	NR_001566.1(TERC): n.374_1194del821	deletion	Pathogenic		GRCh38	Chromosome 3, 169763867: 169764687
9	TERC	NR_001566.1(TERC): n.408C> G	single nucleotide variant	Pathogenic	rs199422284	GRCh37	Chromosome 3, 169482441: 169482441
10	TERC	NR_001566.1(TERC): n.408C> G	single nucleotide variant	Pathogenic	rs199422284	GRCh38	Chromosome 3, 169764653: 169764653
11	TERC	NR_001566.1(TERC): n.107_108delGCinsAG	indel	Pathogenic	rs199476393	GRCh37	Chromosome 3, 169482741: 169482742
12	TERC	NR_001566.1(TERC): n.107_108delGCinsAG	indel	Pathogenic	rs199476393	GRCh38	Chromosome 3, 169764953: 169764954
13	TERC	NR_001566.1(TERC): n.204C> G	single nucleotide variant	Pathogenic	rs199422277	GRCh37	Chromosome 3, 169482645: 169482645
14	TERC	NR_001566.1(TERC): n.204C> G	single nucleotide variant	Pathogenic	rs199422277	GRCh38	Chromosome 3, 169764857: 169764857
15	TERC	NR_001566.1(TERC): n.58G> A	single nucleotide variant	Benign	rs113487931	GRCh37	Chromosome 3, 169482791: 169482791
16	TERC	NR_001566.1(TERC): n.58G> A	single nucleotide variant	Benign	rs113487931	GRCh38	Chromosome 3, 169765003: 169765003
17	TERC	NR_001566.1(TERC): n.116C> T	single nucleotide variant	Pathogenic	rs199422272	GRCh37	Chromosome 3, 169482733: 169482733
18	TERC	NR_001566.1(TERC): n.116C> T	single nucleotide variant	Pathogenic	rs199422272	GRCh38	Chromosome 3, 169764945: 169764945
19	TERT	NM_198253.2(TERT): c.2706G> C (p.Lys902Asn)	single nucleotide variant	Pathogenic	rs121918665	GRCh37	Chromosome 5, 1264656: 1264656
20	TERT	NM_198253.2(TERT): c.2706G> C (p.Lys902Asn)	single nucleotide variant	Pathogenic	rs121918665	GRCh38	Chromosome 5, 1264541: 1264541
21	TERC	NR_001566.1(TERC): n.54_57delAACT	deletion	Pathogenic	rs199422263	GRCh37	Chromosome 3, 169482792: 169482795
22	TERC	NR_001566.1(TERC): n.54_57delAACT	deletion	Pathogenic	rs199422263	GRCh38	Chromosome 3, 169765004: 169765007
23	TINF2	NM_001099274.1(TINF2): c.706C> T (p.Pro236Ser)	single nucleotide variant	Likely benign	rs199422321	GRCh37	Chromosome 14, 24709980: 24709980
24	TINF2	NM_001099274.1(TINF2): c.706C> T (p.Pro236Ser)	single nucleotide variant	Likely benign	rs199422321	GRCh38	Chromosome 14, 24240774: 24240774
25	TINF2	NM_001099274.1(TINF2): c.734C> A (p.Ser245Tyr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142777869	GRCh37	Chromosome 14, 24709952: 24709952
26	TINF2	NM_001099274.1(TINF2): c.734C> A (p.Ser245Tyr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142777869	GRCh38	Chromosome 14, 24240746: 24240746
27	TINF2	NM_001099274.1(TINF2): c.838A> T (p.Lys280Ter)	single nucleotide variant	Pathogenic	rs121918543	GRCh37	Chromosome 14, 24709848: 24709848
28	TINF2	NM_001099274.1(TINF2): c.838A> T (p.Lys280Ter)	single nucleotide variant	Pathogenic	rs121918543	GRCh38	Chromosome 14, 24240642: 24240642
29	TINF2	NM_001099274.1(TINF2): c.841G> A (p.Glu281Lys)	single nucleotide variant	Likely benign	rs199422322	GRCh37	Chromosome 14, 24709845: 24709845
30	TINF2	NM_001099274.1(TINF2): c.841G> A (p.Glu281Lys)	single nucleotide variant	Likely benign	rs199422322	GRCh38	Chromosome 14, 24240639: 24240639
31	TINF2	NM_001099274.1(TINF2): c.847C> G (p.Pro283Ala)	single nucleotide variant	Pathogenic	rs199422311	GRCh37	Chromosome 14, 24709839: 24709839
32	TINF2	NM_001099274.1(TINF2): c.847C> G (p.Pro283Ala)	single nucleotide variant	Pathogenic	rs199422311	GRCh38	Chromosome 14, 24240633: 24240633
33	TINF2	NM_001099274.1(TINF2): c.847C> T (p.Pro283Ser)	single nucleotide variant	Pathogenic	rs199422311	GRCh37	Chromosome 14, 24709839: 24709839
34	TINF2	NM_001099274.1(TINF2): c.847C> T (p.Pro283Ser)	single nucleotide variant	Pathogenic	rs199422311	GRCh38	Chromosome 14, 24240633: 24240633
35	TINF2	NM_001099274.1(TINF2): c.848C> A (p.Pro283His)	single nucleotide variant	Pathogenic	rs199422313	GRCh37	Chromosome 14, 24709838: 24709838
36	TINF2	NM_001099274.1(TINF2): c.848C> A (p.Pro283His)	single nucleotide variant	Pathogenic	rs199422313	GRCh38	Chromosome 14, 24240632: 24240632
37	TINF2	NM_001099274.1(TINF2): c.849dupC (p.Thr284Hisfs)	duplication	Pathogenic	rs199422315	GRCh37	Chromosome 14, 24709837: 24709837
38	TINF2	NM_001099274.1(TINF2): c.849dupC (p.Thr284Hisfs)	duplication	Pathogenic	rs199422315	GRCh38	Chromosome 14, 24240631: 24240631
39	TINF2	NM_001099274.1(TINF2): c.850A> G (p.Thr284Ala)	single nucleotide variant	Pathogenic	rs199422314	GRCh37	Chromosome 14, 24709836: 24709836
40	TINF2	NM_001099274.1(TINF2): c.850A> G (p.Thr284Ala)	single nucleotide variant	Pathogenic	rs199422314	GRCh38	Chromosome 14, 24240630: 24240630
41	TINF2	NM_001099274.1(TINF2): c.860T> C (p.Leu287Pro)	single nucleotide variant	Pathogenic	rs199422316	GRCh37	Chromosome 14, 24709826: 24709826
42	TINF2	NM_001099274.1(TINF2): c.860T> C (p.Leu287Pro)	single nucleotide variant	Pathogenic	rs199422316	GRCh38	Chromosome 14, 24240620: 24240620
43	TINF2	NM_001099274.1(TINF2): c.865_866delCCinsAG (p.Pro289Ser)	indel	Pathogenic	rs199422318	GRCh37	Chromosome 14, 24709820: 24709821
44	TINF2	NM_001099274.1(TINF2): c.865_866delCCinsAG (p.Pro289Ser)	indel	Pathogenic	rs199422318	GRCh38	Chromosome 14, 24240614: 24240615
45	TINF2	NM_001099274.1(TINF2): c.871A> G (p.Arg291Gly)	single nucleotide variant	Pathogenic	rs199422319	GRCh37	Chromosome 14, 24709815: 24709815
46	TINF2	NM_001099274.1(TINF2): c.871A> G (p.Arg291Gly)	single nucleotide variant	Pathogenic	rs199422319	GRCh38	Chromosome 14, 24240609: 24240609
47	TINF2	NM_001099274.1(TINF2): c.892delC (p.Gln298Argfs)	deletion	Pathogenic	rs199422320	GRCh37	Chromosome 14, 24709794: 24709794
48	TINF2	NM_001099274.1(TINF2): c.892delC (p.Gln298Argfs)	deletion	Pathogenic	rs199422320	GRCh38	Chromosome 14, 24240588: 24240588
49	TERT	NM_198253.2(TERT): c.1378_1380delCAG (p.Gln460del)	deletion	Benign	rs199422292	GRCh37	Chromosome 5, 1293621: 1293623
50	TERT	NM_198253.2(TERT): c.1378_1380delCAG (p.Gln460del)	deletion	Benign	rs199422292	GRCh38	Chromosome 5, 1293506: 1293508

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Expression for Dyskeratosis Congenita, Autosomal Dominant 1

Search GEO for disease gene expression data for Dyskeratosis Congenita, Autosomal Dominant 1.

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Pathways for Dyskeratosis Congenita, Autosomal Dominant 1

Pathways related to Dyskeratosis Congenita, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Cell Cycle, Mitotic ⁶⁶ Show member pathways Cell Cycle ⁶⁶ M Phase ⁶⁶	12.7	DKC1 TERT TINF2
2	Chromosome Maintenance ⁶⁶ Show member pathways Deposition of new CENPA-containing nucleosomes at the centromere ⁶⁶ Nucleosome assembly ⁶⁶ Telomere Maintenance ⁶⁶	11.66	DKC1 TERT TINF2
3	Immune response IFN alpha/beta signaling pathway ²² Show member pathways Cytokine Network ⁶⁴ Interferon alpha/beta signaling ⁶⁶ Regulation of IFNA signaling ⁶⁶	11.54	DKC1 TERT TINF2
4	Immune response IL-2 activation and signaling pathway ²² Show member pathways Immune response IL-3 activation and signaling pathway ²²	11.35	TERT TINF2
5	Regulation of Telomerase ¹	10.62	DKC1 TERT TINF2
6	Telomere Extension by Telomerase ⁶⁴ Show member pathways XAV939 inhibits tankyrase, stabilizing AXIN ⁶⁶	10.58	TERT TINF2

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GO Terms for Dyskeratosis Congenita, Autosomal Dominant 1

Cellular components related to Dyskeratosis Congenita, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear chromosome, telomeric region	GO:0000784	9.4	TERT TINF2
2	Cajal body	GO:0015030	9.37	DKC1 TERC
3	chromosome, telomeric region	GO:0000781	9.33	TERC TERT TINF2
4	nuclear telomere cap complex	GO:0000783	9.32	TERT TINF2
5	box H/ACA telomerase RNP complex	GO:0090661	9.26	DKC1 TERC
6	telomerase catalytic core complex	GO:0000333	8.96	TERC TERT
7	telomerase holoenzyme complex	GO:0005697	8.8	DKC1 TERC TERT

Biological processes related to Dyskeratosis Congenita, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cellular response to hypoxia	GO:0071456	9.26	TERC TERT
2	DNA biosynthetic process	GO:0071897	9.16	TERC TERT
3	negative regulation of cellular senescence	GO:2000773	8.96	TERC TERT
4	telomere maintenance via telomerase	GO:0007004	8.8	DKC1 TERC TERT

Molecular functions related to Dyskeratosis Congenita, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	telomeric DNA binding	GO:0042162	9.32	TERT TINF2
2	telomerase RNA binding	GO:0070034	9.26	DKC1 TERT
3	RNA-directed DNA polymerase activity	GO:0003964	9.16	TERC TERT
4	telomerase RNA reverse transcriptase activity	GO:0003721	8.96	TERC TERT
5	telomerase activity	GO:0003720	8.8	DKC1 TERC TERT

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Sources for Dyskeratosis Congenita, Autosomal Dominant 1

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

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¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Dyskeratosis Congenita, Autosomal Dominant 1 (DKCA1)

Aliases & Classifications for Dyskeratosis Congenita, Autosomal Dominant 1

MalaCards integrated aliases for Dyskeratosis Congenita, Autosomal Dominant 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Dyskeratosis Congenita, Autosomal Dominant 1

Related Diseases for Dyskeratosis Congenita, Autosomal Dominant 1

Diseases in the Dyskeratosis Congenita family:

Diseases related to Dyskeratosis Congenita, Autosomal Dominant 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Dyskeratosis Congenita, Autosomal Dominant 1:

Symptoms & Phenotypes for Dyskeratosis Congenita, Autosomal Dominant 1

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Dyskeratosis Congenita, Autosomal Dominant 1:

Drugs & Therapeutics for Dyskeratosis Congenita, Autosomal Dominant 1

Genetic Tests for Dyskeratosis Congenita, Autosomal Dominant 1

Anatomical Context for Dyskeratosis Congenita, Autosomal Dominant 1

MalaCards organs/tissues related to Dyskeratosis Congenita, Autosomal Dominant 1:

Publications for Dyskeratosis Congenita, Autosomal Dominant 1

Genes for Dyskeratosis Congenita, Autosomal Dominant 1

Genes/enhancers related to Dyskeratosis Congenita, Autosomal Dominant 1 (3 elite genes):

Variations for Dyskeratosis Congenita, Autosomal Dominant 1

ClinVar genetic disease variations for Dyskeratosis Congenita, Autosomal Dominant 1:

Expression for Dyskeratosis Congenita, Autosomal Dominant 1

Pathways for Dyskeratosis Congenita, Autosomal Dominant 1

Pathways related to Dyskeratosis Congenita, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

GO Terms for Dyskeratosis Congenita, Autosomal Dominant 1

Cellular components related to Dyskeratosis Congenita, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

Biological processes related to Dyskeratosis Congenita, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

Molecular functions related to Dyskeratosis Congenita, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

Sources for Dyskeratosis Congenita, Autosomal Dominant 1