DKCA1
MCID: DYS141
MIFTS: 47

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

Aliases & Classifications for Dyskeratosis Congenita, Autosomal Dominant 1

MalaCards integrated aliases for Dyskeratosis Congenita, Autosomal Dominant 1:

Name: Dyskeratosis Congenita, Autosomal Dominant 1 56 13
Autosomal Dominant Dyskeratosis Congenita 1 12 15
Dyskeratosis Congenita, Scoggins Type 56 12
Dkca1 56 12
Dyskeratosis Congenita, Autosomal Dominant, Type 1 39
Dyskeratosis Congenita, Autosomal Dominant 71

Characteristics:

OMIM:

56
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:

31
dyskeratosis congenita, autosomal dominant 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Dyskeratosis Congenita, Autosomal Dominant 1

OMIM : 56 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 autosomal dominant dyskeratosis congenita 1, 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 Aldosterone synthesis and secretion and Transmission across Chemical Synapses. Affiliated tissues include skin, bone marrow and bone, 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.

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 top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita autosomal dominant 32.8 TINF2 TERT TERC
2 dyskeratosis congenita, x-linked 31.9 TINF2 TERT TERC DKC1
3 dyskeratosis congenita, autosomal recessive 1 11.2
4 dyskeratosis congenita, autosomal recessive 2 11.2
5 dyskeratosis congenita, autosomal recessive 3 11.2
6 dyskeratosis congenita, autosomal dominant 2 11.2
7 dyskeratosis congenita, autosomal recessive 5 11.2
8 dyskeratosis congenita, autosomal recessive 6 11.2
9 dyskeratosis congenita, autosomal dominant 6 11.2
10 bone marrow failure syndrome 3 11.2
11 congenital intrauterine infection-like syndrome 10.4 TERC DKC1
12 pulmonary fibrosis, familial 10.4 TERT TERC
13 inherited bone marrow failure syndromes 10.4 TERT TERC
14 torch syndrome 10.4 TERC DKC1
15 chronic congestive splenomegaly 10.4 TERT DKC1
16 retinal telangiectasia 10.3 TINF2 TERC DKC1
17 pulmonary fibrosis 10.3 TINF2 TERT TERC
18 coats disease 10.3 TINF2 TERC DKC1
19 shwachman-diamond syndrome 1 10.2 TINF2 TERC DKC1
20 cervical intraepithelial neoplasia 10.2 TERT TERC
21 kcnq2-related disorders 10.1 KCNQ3 KCNQ2
22 melanoma, cutaneous malignant 1 10.1 TINF2 TERT TERC
23 dyskeratosis congenita 10.1 TINF2 TERT TERC DKC1
24 seizures, benign familial neonatal, 2 10.1 KCNQ3 KCNQ2
25 revesz syndrome 10.1 TINF2 TERT TERC DKC1
26 hoyeraal hreidarsson syndrome 10.1 TINF2 TERT TERC DKC1
27 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.1 KCNQ3 KCNQ2
28 early onset absence epilepsy 10.1 KCNQ3 KCNQ2
29 epileptic encephalopathy, early infantile, 7 10.1 KCNQ3 KCNQ2
30 epilepsy, nocturnal frontal lobe, 1 10.1 KCNQ3 KCNQ2
31 pulmonary fibrosis, idiopathic 10.0 TINF2 TERT TERC DKC1
32 eastern equine encephalitis 10.0 KCNQ3 KCNQ2
33 episodic ataxia, type 2 10.0 KCNN3 KCNMA1
34 adolescence-adult electroclinical syndrome 10.0 KCNQ3 KCNQ2
35 aplastic anemia 10.0 TINF2 TERT TERC DKC1
36 infancy electroclinical syndrome 9.9 KCNQ3 KCNQ2
37 alzheimer disease 17 9.9 KCNN4 KCNA2
38 benign familial neonatal epilepsy 9.9 KCNQ3 KCNQ2 KCNA2
39 episodic ataxia, type 1 9.9 KCNQ3 KCNQ2 KCNA2
40 neonatal period electroclinical syndrome 9.9 KCNQ3 KCNQ2 KCNA2
41 dyskeratosis congenita, autosomal dominant 3 9.8 TINF2 KCNN4 KCNN3
42 epileptic encephalopathy, early infantile, 6 9.8 KCNQ3 KCNQ2 KCNA2
43 photosensitive epilepsy 9.8 KCNQ3 KCNQ2
44 benign epilepsy with centrotemporal spikes 9.8 KCNQ5 KCNQ3 KCNQ2
45 diamond-blackfan anemia 9.7 TINF2 TERC KCNN4 DKC1
46 autosomal dominant nocturnal frontal lobe epilepsy 9.7 KCNQ3 KCNQ2 KCNMA1 KCNA2
47 episodic ataxia 9.7 KCNQ3 KCNQ2 KCNMA1 KCNA2
48 epilepsy, idiopathic generalized 9.7 KCNQ3 KCNQ2 KCNMA1 KCNA2
49 benign neonatal seizures 9.7 KCNQ5 KCNQ3 KCNQ2 KCNA2
50 childhood electroclinical syndrome 9.6 KCNQ3 KCNQ2

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



Diseases related to Dyskeratosis Congenita, Autosomal Dominant 1

Symptoms & Phenotypes for Dyskeratosis Congenita, Autosomal Dominant 1

Human phenotypes related to Dyskeratosis Congenita, Autosomal Dominant 1:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 ataxia 31 HP:0001251
2 carious teeth 31 HP:0000670
3 alopecia 31 HP:0001596
4 osteoporosis 31 HP:0000939
5 pulmonary fibrosis 31 HP:0002206
6 anemia 31 HP:0001903
7 bone marrow hypocellularity 31 HP:0005528
8 aplastic anemia 31 HP:0001915
9 myelodysplasia 31 HP:0002863
10 nail dystrophy 31 HP:0008404
11 cirrhosis 31 HP:0001394
12 specific learning disability 31 HP:0001328
13 thrombocytopenia 31 HP:0001873
14 premature graying of hair 31 HP:0002216
15 cerebellar hypoplasia 31 HP:0001321
16 lymphopenia 31 HP:0001888
17 sparse hair 31 HP:0008070
18 squamous cell carcinoma of the skin 31 HP:0006739
19 nail pits 31 HP:0001803
20 ridged nail 31 HP:0001807
21 oral leukoplakia 31 HP:0002745
22 premature loss of teeth 31 HP:0006480
23 interstitial pneumonitis 31 HP:0006515
24 dermal atrophy 31 HP:0004334
25 reticular hyperpigmentation 31 HP:0007588

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Hair:
alopecia
sparse hair
hair loss
premature graying

Hematology:
anemia
pancytopenia
aplastic anemia
thrombocytopenia
lymphopenia
more
Neoplasia:
squamous cell carcinoma of the skin

Head And Neck Mouth:
leukoplakia

Skin Nails Hair Skin:
reticulate hyperpigmentation
skin atrophy

Respiratory Lung:
pulmonary fibrosis
interstitial pneumonitis

Skin Nails Hair Nails:
nail dystrophy
nail pitting
nail ridging

Head And Neck Teeth:
early tooth loss
dental caries

Abdomen Liver:
liver cirrhosis

Laboratory Abnormalities:
shortened telomeres

Clinical features from OMIM:

127550

MGI Mouse Phenotypes related to Dyskeratosis Congenita, Autosomal Dominant 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.7 DKC1 KCNA2 KCNJ11 KCNK2 KCNMA1 KCNN3
2 nervous system MP:0003631 9.36 KCNA2 KCNJ11 KCNK2 KCNK4 KCNMA1 KCNN3

Drugs & Therapeutics for Dyskeratosis Congenita, Autosomal Dominant 1

Search Clinical Trials , NIH Clinical Center 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:

40
Skin, Bone Marrow, Bone, Liver

Publications for Dyskeratosis Congenita, Autosomal Dominant 1

Articles related to Dyskeratosis Congenita, Autosomal Dominant 1:

(show all 30)
# Title Authors PMID Year
1
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. 6 56 54
11574891 2001
2
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. 6 56
22341970 2012
3
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 56
23453664 2013
4
Clinical utility gene card for: dyskeratosis congenita. 6
21610750 2011
5
Dyskeratosis congenita. 56
20493861 2010
6
Short telomeres are sufficient to cause the degenerative defects associated with aging. 56
19944403 2009
7
Dyskeratosis Congenita 6
20301779 2009
8
Engineered telomere degradation models dyskeratosis congenita. 56
18550783 2008
9
Characterization of primitive hematopoietic cells from patients with dyskeratosis congenita. 56
18310499 2008
10
Dyskeratosis congenita: a genetic disorder of many faces. 56
18005359 2008
11
Dysfunctional telomeres and dyskeratosis congenita. 56
17650438 2007
12
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. 56
15098033 2004
13
Dyskeratosis congenita with linear areas of severe cutaneous involvement. 56
9489792 1998
14
Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity. 56
8958340 1996
15
Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita. 56
1563086 1992
16
Dyskeratosis congenita. 56
3236366 1988
17
Dyskeratosis congenita: an autosomal dominant disorder. 56
7096665 1982
18
Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. 54
18460650 2008
19
Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. 54
18042801 2008
20
Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome. 54
17875000 2007
21
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. 54
17640862 2007
22
Telomerase mutations in families with idiopathic pulmonary fibrosis. 54
17392301 2007
23
The impact of dyskeratosis congenita mutations on the structure and dynamics of the human telomerase RNA pseudoknot domain. 54
17206847 2007
24
Low frequency of telomerase RNA mutations among children with aplastic anemia or myelodysplastic syndrome. 54
16825992 2006
25
TERC mutations in children with refractory cytopenia. 54
16670076 2006
26
The effect of TERC haploinsufficiency on the inheritance of telomere length. 54
16284252 2005
27
Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. 54
16247010 2005
28
Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. 54
15319288 2004
29
Dyskeratosis congenita and telomerase. 54
14758110 2004
30
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. 54
12676774 2003

Variations for Dyskeratosis Congenita, Autosomal Dominant 1

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

6 (show top 50) (show all 113) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TINF2 NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu)SNV Pathogenic 5624 rs121918543 14:24709848-24709848 14:24240642-24240642
2 TINF2 NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser)SNV Pathogenic 5626 rs121918545 14:24709842-24709842 14:24240636-24240636
3 TINF2 NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)SNV Pathogenic 5627 rs121918545 14:24709842-24709842 14:24240636-24240636
4 TERC NR_001566.1(TERC):n.107_108delinsAGindel Pathogenic 7321 rs199476393 3:169482741-169482742 3:169764953-169764954
5 TERC NR_001566.1(TERC):n.374_1194del821deletion Pathogenic 7319 rs1553915517 3:169481655-169482475 3:169763867-169764687
6 TERC NR_001566.1(TERC):n.408C>GSNV Pathogenic 7320 rs199422284 3:169482441-169482441 3:169764653-169764653
7 TERC NR_001566.1(TERC):n.204C>GSNV Pathogenic 7322 rs199422277 3:169482645-169482645 3:169764857-169764857
8 TERC NR_001566.1(TERC):n.116C>TSNV Pathogenic 7326 rs199422272 3:169482733-169482733 3:169764945-169764945
9 TERT NM_198253.2(TERT):c.2706G>C (p.Lys902Asn)SNV Pathogenic 12735 rs121918665 5:1264656-1264656 5:1264541-1264541
10 TERC NR_001566.1(TERC):n.54_57deldeletion Pathogenic 30265 rs199422263 3:169482792-169482795 3:169765004-169765007
11 TINF2 NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala)SNV Pathogenic 38923 rs199422314 14:24709836-24709836 14:24240630-24240630
12 TINF2 NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro)SNV Pathogenic 38924 rs199422316 14:24709826-24709826 14:24240620-24240620
13 TERC NR_001566.1(TERC):n.410C>GSNV Pathogenic 39295 rs199422286 3:169482439-169482439 3:169764651-169764651
14 TINF2 NM_001099274.3(TINF2):c.847C>G (p.Pro283Ala)SNV Pathogenic 38919 rs199422311 14:24709839-24709839 14:24240633-24240633
15 TINF2 NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser)SNV Pathogenic 38920 rs199422311 14:24709839-24709839 14:24240633-24240633
16 TINF2 NM_001099274.3(TINF2):c.848C>A (p.Pro283His)SNV Pathogenic 38921 rs199422313 14:24709838-24709838 14:24240632-24240632
17 TINF2 NM_001099274.3(TINF2):c.849dup (p.Thr284fs)duplication Pathogenic 38922 rs199422315 14:24709837-24709837 14:24240631-24240631
18 TINF2 NM_001099274.3(TINF2):c.865_866delinsAG (p.Pro289Ser)indel Pathogenic 38926 rs199422318 14:24709820-24709821 14:24240614-24240615
19 TINF2 NM_001099274.3(TINF2):c.871A>G (p.Arg291Gly)SNV Pathogenic 38927 rs199422319 14:24709815-24709815 14:24240609-24240609
20 TINF2 NM_001099274.3(TINF2):c.892del (p.Gln298fs)deletion Pathogenic 38928 rs199422320 14:24709794-24709794 14:24240588-24240588
21 TERT TERT:c.1710G>Y (p.Lys570Asn)SNV Pathogenic 39103 rs1554041299 5:1282603-1282603 5:1282488-1282488
22 TERT NM_198253.2(TERT):c.2029G>T (p.Gly677Cys)SNV Pathogenic 39105 rs199422296 5:1279507-1279507 5:1279392-1279392
23 TERT NM_198253.2(TERT):c.2045G>A (p.Gly682Asp)SNV Pathogenic 39106 rs199422295 5:1279491-1279491 5:1279376-1279376
24 TINF2 NM_001099274.3(TINF2):c.838A>T (p.Lys280Ter)SNV Pathogenic 38917 rs121918543 14:24709848-24709848 14:24240642-24240642
25 TERT NM_198253.2(TERT):c.2162C>G (p.Pro721Arg)SNV Pathogenic 39110 rs199422299 5:1278880-1278880 5:1278765-1278765
26 TERC NR_001566.1(TERC):n.-240_-239delshort repeat Pathogenic 39279 rs199422255 3:169483087-169483088 3:169765299-169765300
27 TERC NR_001566.1(TERC):n.100T>ASNV Pathogenic 39280 rs199422269 3:169482749-169482749 3:169764961-169764961
28 TERC NR_001566.1(TERC):n.143G>ASNV Pathogenic 39282 rs199422274 3:169482706-169482706 3:169764918-169764918
29 TERC NR_001566.1(TERC):n.216_229deldeletion Pathogenic 39285 rs199422278 3:169482620-169482633 3:169764832-169764845
30 LOC110806306 , TERC NR_001566.1(TERC):n.2G>CSNV Pathogenic 39288 rs199422257 3:169482847-169482847 3:169765059-169765059
31 TERC NR_001566.1(TERC):n.35C>TSNV Pathogenic 39292 rs199422260 3:169482814-169482814 3:169765026-169765026
32 LOC110806306 , TERC NR_001566.1(TERC):n.48A>GSNV Pathogenic 39297 rs199422262 3:169482801-169482801 3:169765013-169765013
33 TERC NR_001566.1(TERC):n.53_87deldeletion Pathogenic 39299 rs199422264 3:169482762-169482796 3:169764974-169765008
34 TERC NR_001566.1(TERC):n.79deldeletion Pathogenic 39300 rs199422266 3:169482770-169482770 3:169764982-169764982
35 TERC NR_001566.1(TERC):n.96_97deldeletion Pathogenic 39301 rs199422267 3:169482752-169482753 3:169764964-169764965
36 ACTRT3 , LOC110806306 , TERC NM_032487.4(ACTRT3):c.831_*2687del2976deletion Pathogenic 40977 3:169482533-169485508 3:169764745-169767720
37 INPP4A NM_001134224.1(INPP4A):c.36C>T (p.Ala12=)SNV Likely pathogenic 623236 rs1306444586 2:99136547-99136547 2:98520084-98520084
38 TERC NR_001566.1(TERC):n.443C>ASNV Likely pathogenic 436977 rs1553915577 3:169482406-169482406 3:169764618-169764618
39 TERC NR_001566.1(TERC):n.306T>GSNV Likely pathogenic 436976 rs1553915591 3:169482543-169482543 3:169764755-169764755
40 TERT NM_198253.2(TERT):c.2110C>T (p.Pro704Ser)SNV Conflicting interpretations of pathogenicity 39108 rs199422297 5:1279426-1279426 5:1279311-1279311
41 TERT NM_198253.2(TERT):c.2935C>T (p.Arg979Trp)SNV Uncertain significance 39118 rs199422305 5:1260624-1260624 5:1260509-1260509
42 TERC NR_001566.1(TERC):n.18C>TSNV Uncertain significance 636628 3:169482831-169482831 3:169765043-169765043
43 TERC NR_001566.1(TERC):n.395G>TSNV Uncertain significance 665301 3:169482454-169482454 3:169764666-169764666
44 TERC NR_001566.1(TERC):n.363G>CSNV Uncertain significance 639725 3:169482486-169482486 3:169764698-169764698
45 TERC NR_001566.1(TERC):n.343_348dupshort repeat Uncertain significance 639928 3:169482500-169482501 3:169764715-169764720
46 TERC NR_001566.1(TERC):n.284C>TSNV Uncertain significance 662725 3:169482565-169482565 3:169764777-169764777
47 TERC NR_001566.1(TERC):n.265C>TSNV Uncertain significance 656256 3:169482584-169482584 3:169764796-169764796
48 TERC NR_001566.1(TERC):n.258C>TSNV Uncertain significance 661443 3:169482591-169482591 3:169764803-169764803
49 TERC NR_001566.1(TERC):n.242C>TSNV Uncertain significance 647341 3:169482607-169482607 3:169764819-169764819
50 TERC NR_001566.1(TERC):n.233G>ASNV Uncertain significance 643046 3:169482616-169482616 3:169764828-169764828

Expression for Dyskeratosis Congenita, Autosomal Dominant 1

Search GEO for disease gene expression data 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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.6 KCNN4 KCNN3 KCNMA1 KCNK2 KCNJ11
2
Show member pathways
12.55 KCNQ5 KCNQ3 KCNQ2 KCNN4 KCNN3 KCNMA1
3
Show member pathways
12.53 KCNK6 KCNK4 KCNK2 KCNJ11 KCNE1
4 11.99 KCNQ5 KCNQ3 KCNQ2 KCNJ11 KCNE1 KCNA2
5
Show member pathways
11.87 KCNN4 KCNMA1 KCNK2
6
Show member pathways
11.73 KCNK6 KCNK4 KCNK2
7
Show member pathways
11.53 KCNQ5 KCNQ3 KCNQ2 KCNN4 KCNN3 KCNMA1
8 11.36 TINF2 TERT DKC1
9 11.3 KCNN4 KCNN3 KCNJ11
10 11.2 KCNQ5 KCNQ3 KCNQ2
11 10.97 KCNQ3 KCNQ2

GO Terms for Dyskeratosis Congenita, Autosomal Dominant 1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.34 KCNQ5 KCNQ3 KCNQ2 KCNN4 KCNN3 KCNMA1
2 integral component of membrane GO:0016021 10.18 KCNQ5 KCNQ3 KCNQ2 KCNN4 KCNN3 KCNMA1
3 integral component of plasma membrane GO:0005887 9.92 KCNQ5 KCNQ3 KCNQ2 KCNK6 KCNK4 KCNK2
4 neuron projection GO:0043005 9.86 KCNN4 KCNN3 KCNK2 KCNA2
5 neuronal cell body GO:0043025 9.84 KCNN4 KCNN3 KCNK2 KCNJ11
6 plasma membrane GO:0005886 9.77 TERT KCNQ5 KCNQ3 KCNQ2 KCNN4 KCNN3
7 chromosome, telomeric region GO:0000781 9.61 TINF2 TERT TERC
8 calyx of Held GO:0044305 9.55 KCNK2 KCNA2
9 axon initial segment GO:0043194 9.51 KCNQ3 KCNQ2
10 node of Ranvier GO:0033268 9.49 KCNQ3 KCNQ2
11 nuclear telomere cap complex GO:0000783 9.48 TINF2 TERT
12 potassium channel complex GO:0034705 9.46 KCNK4 KCNA2
13 box H/ACA telomerase RNP complex GO:0090661 9.4 TERC DKC1
14 telomerase holoenzyme complex GO:0005697 9.33 TERT TERC DKC1
15 voltage-gated potassium channel complex GO:0008076 9.28 KCNQ5 KCNQ3 KCNQ2 KCNN4 KCNMA1 KCNK6
16 telomerase catalytic core complex GO:0000333 9.26 TERT TERC

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.93 KCNQ5 KCNQ3 KCNQ2 KCNN4 KCNN3 KCNMA1
2 regulation of ion transmembrane transport GO:0034765 9.91 KCNQ5 KCNQ3 KCNQ2 KCNMA1 KCNK6 KCNK4
3 transmembrane transport GO:0055085 9.88 KCNQ5 KCNQ3 KCNQ2 KCNMA1 KCNJ11 KCNA2
4 potassium ion transmembrane transport GO:0071805 9.73 KCNQ5 KCNQ3 KCNQ2 KCNN4 KCNN3 KCNMA1
5 cellular response to hypoxia GO:0071456 9.63 TERT TERC KCNK2
6 stabilization of membrane potential GO:0030322 9.62 KCNN4 KCNK6 KCNK4 KCNK2
7 regulation of membrane potential GO:0042391 9.61 KCNMA1 KCNK2 KCNJ11
8 telomere maintenance via telomerase GO:0007004 9.54 TERT TERC DKC1
9 negative regulation of cellular senescence GO:2000773 9.48 TERT TERC
10 potassium ion transport GO:0006813 9.4 KCNQ5 KCNQ3 KCNQ2 KCNN4 KCNN3 KCNMA1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.77 KCNQ5 KCNQ3 KCNQ2 KCNN4 KCNN3
2 voltage-gated ion channel activity GO:0005244 9.76 KCNQ5 KCNQ3 KCNQ2 KCNMA1 KCNK6 KCNK4
3 delayed rectifier potassium channel activity GO:0005251 9.65 KCNQ5 KCNQ3 KCNQ2 KCNE1 KCNA2
4 potassium ion leak channel activity GO:0022841 9.61 KCNK6 KCNK4 KCNK2
5 calcium-activated potassium channel activity GO:0015269 9.58 KCNN4 KCNN3 KCNMA1
6 telomeric DNA binding GO:0042162 9.56 TINF2 TERT
7 voltage-gated potassium channel activity GO:0005249 9.56 KCNQ5 KCNQ3 KCNQ2 KCNMA1 KCNK2 KCNJ11
8 telomerase RNA binding GO:0070034 9.55 TERT DKC1
9 ankyrin binding GO:0030506 9.54 KCNQ2 KCNJ11
10 inward rectifier potassium channel activity GO:0005242 9.52 KCNK6 KCNJ11
11 outward rectifier potassium channel activity GO:0015271 9.51 KCNK2 KCNA2
12 telomerase activity GO:0003720 9.5 TERT TERC DKC1
13 RNA-directed DNA polymerase activity GO:0003964 9.49 TERT TERC
14 small conductance calcium-activated potassium channel activity GO:0016286 9.48 KCNN4 KCNN3
15 telomerase RNA reverse transcriptase activity GO:0003721 9.46 TERT TERC
16 potassium channel activity GO:0005267 9.32 KCNQ5 KCNQ3 KCNQ2 KCNN4 KCNMA1 KCNK6

Sources for Dyskeratosis Congenita, Autosomal Dominant 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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