DKCA1
MCID: DYS141
MIFTS: 44

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 29 13 6
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 2 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 Chromosome Maintenance and Immune response IFN alpha/beta signaling pathway. Affiliated tissues include skin, bone marrow and bone, and related phenotypes are carious teeth and ataxia

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 all 31)
# Related Disease Score Top Affiliating Genes
1 dyskeratosis congenita, autosomal dominant 2 31.8 TERT LOC110806263
2 dyskeratosis congenita, x-linked 31.0 TINF2 TERT TERC DKC1
3 dyskeratosis congenita autosomal dominant 29.2 TINF2 TERT TERC MECOM LOC110806306 LOC110806263
4 dyskeratosis congenita, autosomal recessive 1 11.2
5 dyskeratosis congenita, autosomal recessive 2 11.2
6 dyskeratosis congenita, autosomal recessive 3 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 pulmonary fibrosis, familial 10.2 TERT TERC
12 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.2 TERC LOC110806306
13 inherited bone marrow failure syndromes 10.1 TERT TERC
14 congenital intrauterine infection-like syndrome 10.1 TERC DKC1
15 torch syndrome 10.0 TERC DKC1
16 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 10.0 TERT LOC110806263
17 chronic congestive splenomegaly 9.9 TERT DKC1
18 pulmonary fibrosis 9.9 TINF2 TERT TERC
19 cervical intraepithelial neoplasia 9.9 TERT TERC
20 retinal telangiectasia 9.8 TINF2 TERC DKC1
21 coats disease 9.8 TINF2 TERC DKC1
22 shwachman-diamond syndrome 1 9.7 TINF2 TERC DKC1
23 lymphoid interstitial pneumonia 9.7 TERT TERC
24 melanoma, cutaneous malignant 1 9.6 TINF2 TERT TERC
25 hoyeraal hreidarsson syndrome 9.5 TINF2 TERT TERC DKC1
26 revesz syndrome 9.5 TINF2 TERT TERC DKC1
27 pulmonary fibrosis, idiopathic 9.5 TINF2 TERT TERC DKC1
28 pancytopenia 9.5 TERT MECOM DKC1
29 diamond-blackfan anemia 9.4 TINF2 TERT TERC DKC1
30 aplastic anemia 9.4 TINF2 TERT TERC DKC1
31 dyskeratosis congenita 7.4 TINF2 TERT TERC MECOM LOC110806306 LOC110806263

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

Symptoms via clinical synopsis from OMIM:

56
Hematology:
anemia
thrombocytopenia
lymphopenia
pancytopenia
aplastic anemia
more
Skin Nails Hair Hair:
alopecia
sparse hair
hair loss
premature graying

Skin Nails Hair Nails:
nail dystrophy
nail pitting
nail ridging

Head And Neck Mouth:
leukoplakia

Skin Nails Hair Skin:
reticulate hyperpigmentation
skin atrophy

Respiratory Lung:
pulmonary fibrosis
interstitial pneumonitis

Neoplasia:
squamous cell carcinoma of the skin

Head And Neck Teeth:
early tooth loss
dental caries

Abdomen Liver:
liver cirrhosis

Laboratory Abnormalities:
shortened telomeres

Clinical features from OMIM:

127550

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

Genetic tests related to Dyskeratosis Congenita, Autosomal Dominant 1:

# Genetic test Affiliating Genes
1 Dyskeratosis Congenita, Autosomal Dominant 1 29 TERC TERT TINF2

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. 54 56 6
11574891 2001
2
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. 56 6
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 140) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.374_1194del821deletion Pathogenic 7319 rs1553915517 3:169481651-169482471 3:169763863-169764683
5 TERC NR_001566.1(TERC):n.408C>GSNV Pathogenic 7320 rs199422284 3:169482441-169482441 3:169764653-169764653
6 TERC NR_001566.1(TERC):n.107_108delinsAGindel Pathogenic 7321 rs199476393 3:169482741-169482742 3:169764953-169764954
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 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 TINF2 NM_001099274.3(TINF2):c.838A>T (p.Lys280Ter)SNV Pathogenic 38917 rs121918543 14:24709848-24709848 14:24240642-24240642
20 TERT TERT:c.1710G>Y (p.Lys570Asn)SNV Pathogenic 39103 rs1554041299 5:1282603-1282603 5:1282488-1282488
21 TERT NM_198253.3(TERT):c.2029G>T (p.Gly677Cys)SNV Pathogenic 39105 rs199422296 5:1279507-1279507 5:1279392-1279392
22 TERT NM_198253.3(TERT):c.2045G>A (p.Gly682Asp)SNV Pathogenic 39106 rs199422295 5:1279491-1279491 5:1279376-1279376
23 TERT NM_198253.3(TERT):c.2162C>G (p.Pro721Arg)SNV Pathogenic 39110 rs199422299 5:1278880-1278880 5:1278765-1278765
24 TERC NR_001566.1(TERC):n.-240_-239delshort repeat Pathogenic 39279 rs199422255 3:169483087-169483088 3:169765299-169765300
25 TERC NR_001566.1(TERC):n.100T>ASNV Pathogenic 39280 rs199422269 3:169482749-169482749 3:169764961-169764961
26 TERC NR_001566.1(TERC):n.143G>ASNV Pathogenic 39282 rs199422274 3:169482706-169482706 3:169764918-169764918
27 TERC NR_001566.1(TERC):n.216_229deldeletion Pathogenic 39285 rs199422278 3:169482620-169482633 3:169764832-169764845
28 TERC NR_001566.1(TERC):n.96_97deldeletion Pathogenic 39301 rs199422267 3:169482752-169482753 3:169764964-169764965
29 LOC110806306 , TERC NR_001566.1(TERC):n.2G>CSNV Pathogenic 39288 rs199422257 3:169482847-169482847 3:169765059-169765059
30 TERC NR_001566.1(TERC):n.35C>TSNV Pathogenic 39292 rs199422260 3:169482814-169482814 3:169765026-169765026
31 LOC110806306 , TERC NR_001566.1(TERC):n.48A>GSNV Pathogenic 39297 rs199422262 3:169482801-169482801 3:169765013-169765013
32 TERC NR_001566.1(TERC):n.53_87deldeletion Pathogenic 39299 rs199422264 3:169482762-169482796 3:169764974-169765008
33 TERC NR_001566.1(TERC):n.79deldeletion Pathogenic 39300 rs199422266 3:169482770-169482770 3:169764982-169764982
34 ACTRT3 , LOC110806306 , TERC NM_032487.4(ACTRT3):c.831_*2687del2976deletion Pathogenic 40977 3:169482529-169485504 3:169764741-169767716
35 TERC NR_001566.1(TERC):n.410C>GSNV Pathogenic 39295 rs199422286 3:169482439-169482439 3:169764651-169764651
36 TERC NM_004991.4(MECOM):c.38-101211_38-101210deldeletion Likely pathogenic 916672 3:169200522-169200523 3:169482734-169482735
37 TERC NM_004991.4(MECOM):c.38-101210deldeletion Likely pathogenic 916673 3:169200522-169200522 3:169482734-169482734
38 TERC NR_001566.1(TERC):n.54_57deldeletion Likely pathogenic 30265 rs199422263 3:169482792-169482795 3:169765004-169765007
39 TERC NR_001566.1(TERC):n.443C>ASNV Likely pathogenic 436977 rs1553915577 3:169482406-169482406 3:169764618-169764618
40 TERC NR_001566.1(TERC):n.306T>GSNV Likely pathogenic 436976 rs1553915591 3:169482543-169482543 3:169764755-169764755
41 INPP4A NM_001134225.2(INPP4A):c.36C>T (p.Ala12=)SNV Likely pathogenic 623236 rs1306444586 2:99136547-99136547 2:98520084-98520084
42 TERT NM_198253.2(TERT):c.2287-5G>ASNV Conflicting interpretations of pathogenicity 446374 rs561426406 5:1272400-1272400 5:1272285-1272285
43 TGM1 , TINF2 NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)SNV Conflicting interpretations of pathogenicity 38918 rs199422322 14:24709845-24709845 14:24240639-24240639
44 TERT NM_198253.3(TERT):c.887A>C (p.His296Pro)SNV Conflicting interpretations of pathogenicity 268080 rs778187343 5:1294114-1294114 5:1293999-1293999
45 TERT NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)SNV Conflicting interpretations of pathogenicity 39108 rs199422297 5:1279426-1279426 5:1279311-1279311
46 TERT NM_198253.3(TERT):c.2935C>T (p.Arg979Trp)SNV Uncertain significance 39118 rs199422305 5:1260624-1260624 5:1260509-1260509
47 TERT NM_198253.3(TERT):c.2177C>T (p.Thr726Met)SNV Uncertain significance 39111 rs149566858 5:1278865-1278865 5:1278750-1278750
48 TERC NR_001566.1(TERC):n.360C>GSNV Uncertain significance 242270 rs777348518 3:169482489-169482489 3:169764701-169764701
49 TERC NR_001566.1(TERC):n.267C>TSNV Uncertain significance 242269 rs762111072 3:169482582-169482582 3:169764794-169764794
50 TERC NR_001566.1(TERC):n.232A>CSNV Uncertain significance 242268 rs878855313 3:169482617-169482617 3:169764829-169764829

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.66 TINF2 TERT DKC1
2
Show member pathways
11.54 TINF2 TERT DKC1
3 10.62 TINF2 TERT DKC1
4
Show member pathways
10.58 TINF2 TERT

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 chromosome, telomeric region GO:0000781 9.43 TINF2 TERT TERC
2 Cajal body GO:0015030 9.37 TERC DKC1
3 nuclear telomere cap complex GO:0000783 9.32 TINF2 TERT
4 box H/ACA telomerase RNP complex GO:0090661 9.16 TERC DKC1
5 telomerase catalytic core complex GO:0000333 8.96 TERT TERC
6 telomerase holoenzyme complex GO:0005697 8.8 TERT TERC DKC1

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

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

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 TINF2 TERT
2 telomerase RNA binding GO:0070034 9.26 TERT DKC1
3 RNA-directed DNA polymerase activity GO:0003964 9.16 TERT TERC
4 telomerase RNA reverse transcriptase activity GO:0003721 8.96 TERT TERC
5 telomerase activity GO:0003720 8.8 TERT TERC DKC1

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
Content
Loading form....