HHS
MCID: DYS164
MIFTS: 44

Dyskeratosis Congenita, X-Linked (HHS) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Dyskeratosis Congenita, X-Linked

Aliases & Descriptions for Dyskeratosis Congenita, X-Linked:

Name: Dyskeratosis Congenita, X-Linked 54 66 13
X-Linked Dyskeratosis Congenita 50 29 69
Hoyeraal-Hreidarsson Syndrome 66 69
Dkcx 50 66
Prenatal Growth Retardation with Progressive Pancytopenia and Cerebellar Hypoplasia 66
Cerebellar Hypoplasia with Pancytopenia 66
Dyskeratosis Congenita X-Linked 50
Zinsser-Cole-Engman Syndrome 66
Zinsser Cole Engman Syndrome 50
Dyskeratosis Congenita 69
Hhs 66

Characteristics:

HPO:

32
dyskeratosis congenita, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 305000

Summaries for Dyskeratosis Congenita, X-Linked

OMIM : 54 Dyskeratosis congenita is classically defined by the triad of abnormal skin pigmentation, nail dystrophy, and... (305000) more...

MalaCards based summary : Dyskeratosis Congenita, X-Linked, also known as x-linked dyskeratosis congenita, is related to hypotrichosis 1 and tumoral calcinosis, hyperphosphatemic, familial, and has symptoms including ataxia, hyperhidrosis and intellectual disability. An important gene associated with Dyskeratosis Congenita, X-Linked is DKC1 (Dyskerin Pseudouridine Synthase 1), and among its related pathways/superpathways is Chromosome Maintenance. The drugs alemtuzumab and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow.

UniProtKB/Swiss-Prot : 66 Dyskeratosis congenita, X-linked: A rare, progressive bone marrow failure syndrome characterized by the triad of reticulated skin hyperpigmentation, nail dystrophy, and mucosal leukoplakia. Early mortality is often associated with bone marrow failure, infections, fatal pulmonary complications, or malignancy. Hoyeraal-Hreidarsson syndrome: A clinically severe variant of dyskeratosis congenita that is characterized by multisystem involvement, early onset in utero, and often results in death in childhood. Affected individuals show intrauterine growth retardation, microcephaly, cerebellar hypoplasia, delayed development, and bone marrow failure resulting in immunodeficiency.

Related Diseases for Dyskeratosis Congenita, X-Linked

Diseases related to Dyskeratosis Congenita, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 51)
id Related Disease Score Top Affiliating Genes
1 hypotrichosis 1 11.5
2 tumoral calcinosis, hyperphosphatemic, familial 11.4
3 hypogonadotropic hypogonadism 7 without anosmia 11.3
4 heart-hand syndrome, slovenian type 11.3
5 hemochromatosis 11.2
6 hypothalamic hamartomas 10.9
7 hypogonadotropic hypogonadism 2 with or without anosmia 10.9
8 dyskeratosis congenita, autosomal dominant 1 10.8
9 kallmann syndrome 10.8
10 dyskeratosis congenita, autosomal recessive 5 10.8
11 hyperinsulinism-hyperammonemia syndrome 10.7
12 hypotrichosis simplex 10.7
13 hypogonadotropic hypogonadism 14 with or without anosmia 10.6
14 hypogonadotropic hypogonadism 10 with or without anosmia 10.6
15 hypogonadotropic hypogonadism 4 with or without anosmia 10.6
16 hypogonadotropic hypogonadism 19 with or without anosmia 10.6
17 hypogonadotropic hypogonadism 18 with or without anosmia 10.6
18 hypogonadotropic hypogonadism 8 with or without anosmia 10.6
19 hypogonadotropic hypogonadism 11 with or without anosmia 10.6
20 hypogonadotropic hypogonadism 3 with or without anosmia 10.6
21 hypogonadotropic hypogonadism 17 with or without anosmia 10.6
22 hypogonadotropic hypogonadism 21 with anosmia 10.6
23 hypogonadotropic hypogonadism 16 with or without anosmia 10.6
24 hypogonadotropic hypogonadism with or without anosmia 10.6
25 hypogonadotropic hypogonadism 20 with or without anosmia 10.6
26 hypogonadotropic hypogonadism 12 with or without anosmia 10.6
27 hypogonadotropic hypogonadism 13 with or without anosmia 10.6
28 hypogonadotropic hypogonadism 5 with or without anosmia 10.6
29 hypogonadotropic hypogonadism 9 with or without anosmia 10.6
30 hypogonadotropic hypogonadism 15 with or without anosmia 10.6
31 hypogonadotropic hypogonadism 6 with or without anosmia 10.6
32 dyskeratosis congenita 10.2
33 breast cancer 9.8
34 hypogonadism 9.8
35 hyperostosis 9.8
36 hypogonadotropism 9.8
37 hyperphosphatemia 9.8
38 hemiplegia 9.7
39 epilepsy 9.7
40 pancreatic cancer 9.7
41 basal cell carcinoma 9.7
42 pancreatitis 9.7
43 lung cancer 9.7
44 hepatitis 9.7
45 hiv-1 9.7
46 autism spectrum disorder 9.7
47 hepatocellular carcinoma 9.7
48 siderosis 9.7
49 malignant hypertension 9.7
50 skin atrophy 9.6 CTC1 DKC1 PARN

Graphical network of the top 20 diseases related to Dyskeratosis Congenita, X-Linked:



Diseases related to Dyskeratosis Congenita, X-Linked

Symptoms & Phenotypes for Dyskeratosis Congenita, X-Linked

Symptoms by clinical synopsis from OMIM:

305000

Clinical features from OMIM:

305000

Human phenotypes related to Dyskeratosis Congenita, X-Linked:

32 (show all 49)
id Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 hyperhidrosis 32 HP:0000975
3 intellectual disability 32 HP:0001249
4 cataract 32 HP:0000518
5 global developmental delay 32 HP:0001263
6 carious teeth 32 HP:0000670
7 microcephaly 32 HP:0000252
8 optic atrophy 32 HP:0000648
9 short stature 32 HP:0004322
10 osteoporosis 32 HP:0000939
11 pulmonary fibrosis 32 HP:0002206
12 immunodeficiency 32 HP:0002721
13 anemia 32 HP:0001903
14 pancytopenia 32 HP:0001876
15 bone marrow hypocellularity 32 HP:0005528
16 myelodysplasia 32 HP:0002863
17 acute myeloid leukemia 32 HP:0004808
18 nail dystrophy 32 HP:0008404
19 strabismus 32 HP:0000486
20 cryptorchidism 32 HP:0000028
21 horseshoe kidney 32 HP:0000085
22 cirrhosis 32 HP:0001394
23 thrombocytopenia 32 HP:0001873
24 premature graying of hair 32 HP:0002216
25 cerebellar hypoplasia 32 HP:0001321
26 blepharitis 32 HP:0000498
27 intrauterine growth retardation 32 HP:0001511
28 hypospadias 32 HP:0000047
29 decreased testicular size 32 HP:0008734
30 conjunctivitis 32 HP:0000509
31 alopecia 32 HP:0001596
32 urethral stenosis 32 HP:0008661
33 ridged nail 32 HP:0001807
34 anal mucosal leukoplakia 32 HP:0005212
35 squamous cell carcinoma 32 HP:0002860
36 oral leukoplakia 32 HP:0002745
37 sparse eyelashes 32 HP:0000653
38 leukopenia 32 HP:0001882
39 hyperpigmentation of the skin 32 HP:0000953
40 premature loss of teeth 32 HP:0006480
41 increased lacrimation 32 HP:0009926
42 dermal atrophy 32 HP:0004334
43 reticulated skin pigmentation 32 HP:0007427
44 hodgkin lymphoma 32 HP:0012189
45 phimosis 32 HP:0001741
46 esophageal stricture 32 HP:0002043
47 restrictive ventilatory defect 32 HP:0002091
48 pterygium of nails 32 HP:0002165
49 split nail 32 HP:0001809

UMLS symptoms related to Dyskeratosis Congenita, X-Linked:


onychomadesis

Drugs & Therapeutics for Dyskeratosis Congenita, X-Linked

Drugs for Dyskeratosis Congenita, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
alemtuzumab Approved, Investigational Phase 2, Phase 3 216503-57-0
2
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
3
Fludarabine Approved Phase 2, Phase 3 21679-14-1, 75607-67-9 30751
4
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
5
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
6
Vidarabine Approved Phase 2, Phase 3 24356-66-9 32326 21704
7 Alkylating Agents Phase 2, Phase 3
8 Antiemetics Phase 2, Phase 3
9 Anti-Infective Agents Phase 2, Phase 3
10 Anti-Inflammatory Agents Phase 2, Phase 3
11 Antilymphocyte Serum Phase 2, Phase 3
12 Antimetabolites Phase 2, Phase 3
13 Antimetabolites, Antineoplastic Phase 2, Phase 3
14 Antineoplastic Agents, Alkylating Phase 2, Phase 3
15 Antineoplastic Agents, Hormonal Phase 2, Phase 3
16 Antirheumatic Agents Phase 2, Phase 3,Phase 1
17 Antiviral Agents Phase 2, Phase 3
18 Autonomic Agents Phase 2, Phase 3
19 Gastrointestinal Agents Phase 2, Phase 3
20 glucocorticoids Phase 2, Phase 3
21 Hormone Antagonists Phase 2, Phase 3,Phase 1
22 Hormones Phase 2, Phase 3,Phase 1
23 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2, Phase 3,Phase 1
24 Immunosuppressive Agents Phase 2, Phase 3,Phase 1
25 Methylprednisolone acetate Phase 2, Phase 3
26 Methylprednisolone Hemisuccinate Phase 2, Phase 3
27 Neuroprotective Agents Phase 2, Phase 3
28 Peripheral Nervous System Agents Phase 2, Phase 3
29 Prednisolone acetate Phase 2, Phase 3
30 Prednisolone hemisuccinate Phase 2, Phase 3
31 Prednisolone phosphate Phase 2, Phase 3
32 Protective Agents Phase 2, Phase 3
33
Lenograstim Approved Phase 2 135968-09-1
34
Cyclosporine Approved, Investigational, Vet_approved Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
35
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
36
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
37
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
38
Acetaminophen Approved Phase 2 103-90-2 1983
39
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
40
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
41
Hydroxyurea Approved Phase 2 127-07-1 3657
42
Melphalan Approved Phase 2 148-82-3 4053 460612
43
Promethazine Approved Phase 2 60-87-7 4927
44
Thiotepa Approved Phase 2 52-24-4 5453
45
Danazol Approved Phase 1, Phase 2 17230-88-5 28417
46 Adjuvants, Immunologic Phase 2
47 Anti-Bacterial Agents Phase 2
48 Antibiotics, Antitubercular Phase 2
49 Antifungal Agents Phase 2
50 Calcineurin Inhibitors Phase 2

Interventional clinical trials:

(show all 11)
id Name Status NCT ID Phase
1 Stem Cell Transplant (SCT) for Dyskeratosis Congenita or SAA Completed NCT00455312 Phase 2, Phase 3
2 Phase II Pilot Study of Granulocyte Colony-Stimulating Factor for Inherited Bone Marrow Failure Syndromes Completed NCT00004787 Phase 2
3 Radiation- and Alkylator-free Bone Marrow Transplantation Regimen for Patients With Dyskeratosis Congenita Recruiting NCT01659606 Phase 2
4 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
5 Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita Terminated NCT01001598 Phase 1, Phase 2
6 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
7 Assessing Immune Function in Young Patients With Cytopenia That Did Not Respond to Treatment Completed NCT00499070
8 Hematopoietic Stem Cell Transplant for Dyskeratosis Congenita or Severe Aplastic Anemia Recruiting NCT02162420
9 Investigation of the Genetics of Hematologic Diseases Recruiting NCT02720679
10 Familial Investigations of Childhood Cancer Predisposition Recruiting NCT03050268
11 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation Terminated NCT01319851

Search NIH Clinical Center for Dyskeratosis Congenita, X-Linked

Genetic Tests for Dyskeratosis Congenita, X-Linked

Genetic tests related to Dyskeratosis Congenita, X-Linked:

id Genetic test Affiliating Genes
1 Dyskeratosis Congenita X-Linked 29

Anatomical Context for Dyskeratosis Congenita, X-Linked

MalaCards organs/tissues related to Dyskeratosis Congenita, X-Linked:

39
Skin, Bone, Bone Marrow, Liver, Myeloid, Kidney

Publications for Dyskeratosis Congenita, X-Linked

Variations for Dyskeratosis Congenita, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Dyskeratosis Congenita, X-Linked:

66 (show all 22)
id Symbol AA change Variation ID SNP ID
1 DKC1 p.Phe36Val VAR_006811 rs121912293
2 DKC1 p.Pro40Arg VAR_006813 rs121912292
3 DKC1 p.Leu72Tyr VAR_006814 rs121912294
4 DKC1 p.Gly402Glu VAR_006815 rs121912295
5 DKC1 p.Ala353Val VAR_009264 rs121912288
6 DKC1 p.Ala2Val VAR_010076 rs121912303
7 DKC1 p.Lys39Glu VAR_010077 rs121912296
8 DKC1 p.Glu41Lys VAR_010078 rs121912302
9 DKC1 p.Arg65Thr VAR_010079 rs121912301
10 DKC1 p.Thr66Ala VAR_010080 rs121912297
11 DKC1 p.Leu321Val VAR_010081 rs2728726
12 DKC1 p.Met350Ile VAR_010082 rs121912298
13 DKC1 p.Met350Thr VAR_010083 rs121912300
14 DKC1 p.Gly402Arg VAR_010084 rs121912299
15 DKC1 p.Ile38Thr VAR_015674 rs28936072
16 DKC1 p.Thr49Met VAR_015675 rs121912304
17 DKC1 p.Ser121Gly VAR_015676 rs121912305
18 DKC1 p.Leu56Ser VAR_063821 rs121912287
19 DKC1 p.Leu72Phe VAR_063822 rs121912306
20 DKC1 p.Leu317Phe VAR_063823 rs121912290
21 DKC1 p.Arg322Gln VAR_063824 rs121912291
22 DKC1 p.Pro409Leu VAR_063825 rs121912289

ClinVar genetic disease variations for Dyskeratosis Congenita, X-Linked:

6 (show all 42)
id Gene Variation Type Significance SNP ID Assembly Location
1 DKC1 NM_001363.4(DKC1): c.106T> G (p.Phe36Val) single nucleotide variant Pathogenic rs121912293 GRCh37 Chromosome X, 153993740: 153993740
2 DKC1 NM_001363.4(DKC1): c.109_111delCTT (p.Leu37del) deletion Pathogenic rs137854489 GRCh37 Chromosome X, 153993743: 153993745
3 DKC1 NM_001363.4(DKC1): c.119C> G (p.Pro40Arg) single nucleotide variant Pathogenic rs121912292 GRCh37 Chromosome X, 153993753: 153993753
4 DKC1 NM_001363.4(DKC1): c.214_215delCTinsTA (p.Leu72Tyr) indel Pathogenic rs121912294 GRCh37 Chromosome X, 153994224: 153994225
5 DKC1 NM_001363.4(DKC1): c.1205G> A (p.Gly402Glu) single nucleotide variant Pathogenic rs121912295 GRCh37 Chromosome X, 154002926: 154002926
6 DKC1 NM_001363.4(DKC1): c.1058C> T (p.Ala353Val) single nucleotide variant Pathogenic rs121912288 GRCh37 Chromosome X, 154001427: 154001427
7 DKC1 NC_000023.11 deletion Pathogenic GRCh38 Chromosome X, 154776372: 154778319
8 DKC1 DKC1, -141C-G single nucleotide variant Pathogenic
9 DKC1 DKC1, IVS1, C-G, +592 single nucleotide variant Pathogenic
10 DKC1 NM_001363.4(DKC1): c.146C> T (p.Thr49Met) single nucleotide variant Pathogenic rs121912304 GRCh37 Chromosome X, 153993780: 153993780
11 DKC1 NM_001363.4(DKC1): c.361A> G (p.Ser121Gly) single nucleotide variant Pathogenic/Likely pathogenic rs121912305 GRCh37 Chromosome X, 153994588: 153994588
12 DKC1 NM_001363.4(DKC1): c.113T> C (p.Ile38Thr) single nucleotide variant Pathogenic rs28936072 GRCh37 Chromosome X, 153993747: 153993747
13 DKC1 NM_001363.4(DKC1): c.91C> A (p.Gln31Lys) single nucleotide variant Pathogenic rs137854491 GRCh37 Chromosome X, 153993725: 153993725
14 DKC1 NM_001363.4(DKC1): c.1069A> G (p.Thr357Ala) single nucleotide variant Pathogenic rs137854492 GRCh37 Chromosome X, 154001438: 154001438
15 DKC1 DKC1, IVS12DS, G-A, +1 single nucleotide variant Pathogenic
16 DKC1 NM_001363.4(DKC1): c.1049T> C (p.Met350Thr) single nucleotide variant Pathogenic rs121912300 GRCh37 Chromosome X, 154001418: 154001418
17 DKC1 NM_001363.4(DKC1): c.1050G> A (p.Met350Ile) single nucleotide variant Pathogenic rs121912298 GRCh37 Chromosome X, 154001419: 154001419
18 DKC1 NM_001363.4(DKC1): c.1075G> A (p.Asp359Asn) single nucleotide variant Pathogenic rs199422249 GRCh37 Chromosome X, 154001444: 154001444
19 DKC1 NM_001363.4(DKC1): c.1150C> T (p.Pro384Ser) single nucleotide variant Pathogenic rs199422250 GRCh37 Chromosome X, 154001519: 154001519
20 DKC1 NM_001363.4(DKC1): c.1151C> T (p.Pro384Leu) single nucleotide variant Pathogenic rs199422251 GRCh37 Chromosome X, 154001520: 154001520
21 DKC1 NM_001363.4(DKC1): c.1156G> A (p.Ala386Thr) single nucleotide variant Pathogenic rs199422252 GRCh37 Chromosome X, 154002877: 154002877
22 DKC1 NM_001363.4(DKC1): c.115A> G (p.Lys39Glu) single nucleotide variant Pathogenic rs121912296 GRCh37 Chromosome X, 153993749: 153993749
23 DKC1 NM_001363.4(DKC1): c.1193T> C (p.Leu398Pro) single nucleotide variant Pathogenic rs199422253 GRCh37 Chromosome X, 154002914: 154002914
24 DKC1 NM_001363.4(DKC1): c.1204G> A (p.Gly402Arg) single nucleotide variant Pathogenic rs121912299 GRCh37 Chromosome X, 154002925: 154002925
25 DKC1 NM_001363.4(DKC1): c.121G> A (p.Glu41Lys) single nucleotide variant Pathogenic rs121912302 GRCh37 Chromosome X, 153993755: 153993755
26 DKC1 NM_001363.4(DKC1): c.1223C> T (p.Thr408Ile) single nucleotide variant Pathogenic rs199422254 GRCh37 Chromosome X, 154002944: 154002944
27 DKC1 NM_001363.4(DKC1): c.1226C> T (p.Pro409Leu) single nucleotide variant Pathogenic rs121912289 GRCh37 Chromosome X, 154002947: 154002947
28 DKC1 NM_001363.4(DKC1): c.127A> G (p.Lys43Glu) single nucleotide variant Pathogenic rs199422243 GRCh37 Chromosome X, 153993761: 153993761
29 DKC1 NM_001363.4(DKC1): c.194G> C (p.Arg65Thr) single nucleotide variant Pathogenic rs121912301 GRCh37 Chromosome X, 153994204: 153994204
30 DKC1 NM_001363.4(DKC1): c.196A> G (p.Thr66Ala) single nucleotide variant Pathogenic rs121912297 GRCh37 Chromosome X, 153994206: 153994206
31 DKC1 NM_001363.4(DKC1): c.200C> T (p.Thr67Ile) single nucleotide variant Pathogenic rs199422244 GRCh37 Chromosome X, 153994210: 153994210
32 DKC1 NM_001363.4(DKC1): c.204C> A (p.His68Gln) single nucleotide variant Pathogenic rs199422245 GRCh37 Chromosome X, 153994214: 153994214
33 DKC1 NM_001363.4(DKC1): c.29C> T (p.Pro10Leu) single nucleotide variant Pathogenic rs199422242 GRCh37 Chromosome X, 153993186: 153993186
34 DKC1 NM_001363.4(DKC1): c.5C> T (p.Ala2Val) single nucleotide variant Pathogenic rs121912303 GRCh37 Chromosome X, 153991245: 153991245
35 DKC1 NM_001363.4(DKC1): c.838A> C (p.Ser280Arg) single nucleotide variant Pathogenic rs146700772 GRCh37 Chromosome X, 153997508: 153997508
36 DKC1 NM_001363.4(DKC1): c.911G> A (p.Ser304Asn) single nucleotide variant Pathogenic rs199422247 GRCh37 Chromosome X, 153997581: 153997581
37 DKC1 NM_001363.4(DKC1): c.91C> G (p.Gln31Glu) single nucleotide variant Pathogenic rs137854491 GRCh37 Chromosome X, 153993725: 153993725
38 DKC1 NM_001363.4(DKC1): c.941A> G (p.Lys314Arg) single nucleotide variant Pathogenic rs199422248 GRCh37 Chromosome X, 153999059: 153999059
39 DKC1 NM_001363.4(DKC1): c.949C> G (p.Leu317Val) single nucleotide variant Pathogenic rs121912290 GRCh37 Chromosome X, 153999067: 153999067
40 DKC1 NM_001363.4(DKC1): c.949C> T (p.Leu317Phe) single nucleotide variant Pathogenic rs121912290 GRCh37 Chromosome X, 153999067: 153999067
41 DKC1 NM_001363.4(DKC1): c.961C> G (p.Leu321Val) single nucleotide variant Pathogenic rs2728726 GRCh37 Chromosome X, 153999079: 153999079
42 DKC1 NM_001363.4(DKC1): c.965G> A (p.Arg322Gln) single nucleotide variant Pathogenic rs121912291 GRCh37 Chromosome X, 153999083: 153999083

Expression for Dyskeratosis Congenita, X-Linked

Search GEO for disease gene expression data for Dyskeratosis Congenita, X-Linked.

Pathways for Dyskeratosis Congenita, X-Linked

Pathways related to Dyskeratosis Congenita, X-Linked according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.15 DKC1 MIR664B

GO Terms for Dyskeratosis Congenita, X-Linked

Biological processes related to Dyskeratosis Congenita, X-Linked according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of telomere maintenance via telomerase GO:0032212 9.32 DKC1 PARN
2 positive regulation of telomerase activity GO:0051973 9.26 DKC1 PARN
3 RNA modification GO:0009451 9.16 DKC1 PARN
4 regulation of telomerase RNA localization to Cajal body GO:1904872 8.96 DKC1 PARN
5 telomerase RNA stabilization GO:0090669 8.62 DKC1 PARN

Molecular functions related to Dyskeratosis Congenita, X-Linked according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 telomerase RNA binding GO:0070034 8.62 DKC1 PARN

Sources for Dyskeratosis Congenita, X-Linked

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