DKCA
MCID: DYS039
MIFTS: 34

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

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 70
Autosomal Dominant Dyskeratosis Congenita 20
Dyskeratosis Congenita Scoggins Type 20
Dkca 20

Classifications:



External Ids:

UMLS 70 C1851970

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. Affiliated tissues include eye, bone marrow and bone, and related phenotype is neoplasm.

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 33.1 TERT LOC110806263
2 dyskeratosis congenita, autosomal recessive 5 32.8 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 predisposition 30.5 TERT TERC
6 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 30.4 TERC LOC110806306
7 pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 29.9 TERT RTEL1-TNFRSF6B RTEL1 LOC110806263
8 pancytopenia 29.7 TINF2 TERT MECOM DKC1
9 dyskeratosis congenita, autosomal dominant 1 29.6 TINF2 TGM1 TERT TERC RTEL1-TNFRSF6B RTEL1
10 pulmonary fibrosis 29.2 TINF2 TERT TERC RTEL1-TNFRSF6B RTEL1 LOC110806263
11 pulmonary fibrosis, idiopathic 29.0 TINF2 TERT TERC RTEL1-TNFRSF6B RTEL1 LOC110806263
12 dyskeratosis congenita 27.2 TINF2 TGM1 TERT TERC RTEL1-TNFRSF6B RTEL1
13 dyskeratosis congenita, autosomal dominant 6 11.8
14 leukoplakia 10.3
15 inherited bone marrow failure syndromes 10.2 TERT TERC
16 postinflammatory pulmonary fibrosis 10.2 TERT TERC
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 pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 10.1 RTEL1-TNFRSF6B RTEL1
24 congenital intrauterine infection-like syndrome 10.1 TERC DKC1
25 torch syndrome 10.1 TERC DKC1
26 cervical intraepithelial neoplasia 10.1 TERT TERC
27 chronic congestive splenomegaly 10.0 TERT DKC1
28 retinal telangiectasia 10.0 TINF2 DKC1
29 dyskeratosis congenita autosomal recessive 9.9 TERT RTEL1-TNFRSF6B RTEL1 ACD
30 cerebellar hypoplasia 9.9 TINF2 RTEL1 DKC1
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 9.7 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 myelodysplastic syndrome 9.5 TERT TERC RTEL1 MECOM
38 hoyeraal hreidarsson syndrome 9.3 TINF2 TERT TERC RTEL1-TNFRSF6B RTEL1 DKC1
39 aplastic anemia 9.1 TINF2 TERT TERC RTEL1 LOC110806306 LOC110806263

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



Diseases related to Dyskeratosis Congenita Autosomal Dominant

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

Drugs & Therapeutics for Dyskeratosis Congenita Autosomal Dominant

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

Genetic Tests for Dyskeratosis Congenita Autosomal Dominant

Anatomical Context for Dyskeratosis Congenita Autosomal Dominant

MalaCards organs/tissues related to Dyskeratosis Congenita Autosomal Dominant:

40
Eye, Bone Marrow, Bone

Publications for Dyskeratosis Congenita Autosomal Dominant

Articles related to Dyskeratosis Congenita Autosomal Dominant:

(show all 31)
# Title Authors PMID Year
1
Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. 6 54
17640862 2007
2
Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency. 6 54
15319288 2004
3
The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. 6 54
11574891 2001
4
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. 6
29483670 2018
5
An Activity Switch in Human Telomerase Based on RNA Conformation and Shaped by TCAB1. 6
29804836 2018
6
Cryo-EM structure of substrate-bound human telomerase holoenzyme. 6
29695869 2018
7
Severe hematologic complications after lung transplantation in patients with telomerase complex mutations. 6
25612863 2015
8
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita. 6
22341970 2012
9
Architecture of human telomerase RNA. 6
21844345 2011
10
Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations. 6
21931702 2011
11
Investigation of human telomerase holoenzyme assembly, activity, and processivity using disease-linked subunit variants. 6
20022961 2010
12
A human telomerase holoenzyme protein required for Cajal body localization and telomere synthesis. 6
19179534 2009
13
Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. 6
16332973 2006
14
Identification and functional characterization of 2 variant alleles of the telomerase RNA template gene (TERC) in a patient with dyskeratosis congenita. 6
15886322 2005
15
Functional analysis of the pseudoknot structure in human telomerase RNA. 6
15849264 2005
16
Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. 6
15098033 2004
17
Telomerase RNA structure and function: implications for dyskeratosis congenita. 6
15082312 2004
18
Structural analysis and anti-complement activity of polysaccharides from Kjellmaniella crsaaifolia. 61
25786064 2015
19
Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. 54
18460650 2008
20
Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene. 54
18042801 2008
21
Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p- syndrome. 54
17875000 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
Dyskeratosis congenita and telomerase. 54
14758110 2004
29
Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome. 54
12676774 2003
30
Phase diagram of a probabilistic cellular automaton with three-site interactions. 61
12636564 2003
31
Quasistationary distributions for the Domany-Kinzel stochastic cellular automaton. 61
12443287 2002

Variations for Dyskeratosis Congenita Autosomal Dominant

ClinVar genetic disease variations for Dyskeratosis Congenita Autosomal Dominant:

6 (show top 50) (show all 243)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TERC NR_001566.1(TERC):n.374_1194del821 Deletion Pathogenic 7319 rs1553915517 GRCh37: 3:169481651-169482471
GRCh38: 3:169763863-169764683
2 TERC NR_001566.1(TERC):n.408C>G SNV Pathogenic 7320 rs199422284 GRCh37: 3:169482441-169482441
GRCh38: 3:169764653-169764653
3 LOC110806306 , TERC NR_001566.1(TERC):n.54_57del Deletion Pathogenic 30265 rs199422263 GRCh37: 3:169482792-169482795
GRCh38: 3:169765004-169765007
4 TERT NM_198253.2(TERT):c.2706G>C (p.Lys902Asn) SNV Pathogenic 12735 rs121918665 GRCh37: 5:1264656-1264656
GRCh38: 5:1264541-1264541
5 TERC NR_001566.1(TERC):n.143G>A SNV Pathogenic 39282 rs199422274 GRCh37: 3:169482706-169482706
GRCh38: 3:169764918-169764918
6 TERC NR_001566.1(TERC):n.204C>G SNV Pathogenic 7322 rs199422277 GRCh37: 3:169482645-169482645
GRCh38: 3:169764857-169764857
7 TERC NR_001566.1(TERC):n.216_229del Deletion Pathogenic 39285 rs199422278 GRCh37: 3:169482620-169482633
GRCh38: 3:169764832-169764845
8 TERC NR_001566.1(TERC):n.100T>A SNV Pathogenic 39280 rs199422269 GRCh37: 3:169482749-169482749
GRCh38: 3:169764961-169764961
9 LOC110806306 , TERC NR_001566.1(TERC):n.2G>C SNV Pathogenic 39288 rs199422257 GRCh37: 3:169482847-169482847
GRCh38: 3:169765059-169765059
10 TERC NR_001566.1(TERC):n.410C>G SNV Pathogenic 39295 rs199422286 GRCh37: 3:169482439-169482439
GRCh38: 3:169764651-169764651
11 LOC110806306 , TERC NR_001566.1(TERC):n.48A>G SNV Pathogenic 39297 rs199422262 GRCh37: 3:169482801-169482801
GRCh38: 3:169765013-169765013
12 TERC and overlap with 1 gene(s) NR_001566.1(TERC):n.53_87del Deletion Pathogenic 39299 rs199422264 GRCh37: 3:169482762-169482796
GRCh38: 3:169764974-169765008
13 TERC NR_001566.1(TERC):n.79del Deletion Pathogenic 39300 rs199422266 GRCh37: 3:169482770-169482770
GRCh38: 3:169764982-169764982
14 TERC NR_001566.1(TERC):n.96_97del Deletion Pathogenic 39301 rs199422267 GRCh37: 3:169482752-169482753
GRCh38: 3:169764964-169764965
15 LOC110806306 , TERC NR_001566.1(TERC):n.67del Deletion Pathogenic 950972 GRCh37: 3:169482782-169482782
GRCh38: 3:169764994-169764994
16 TERC NR_001566.1(TERC):n.110_113del Deletion Pathogenic 7325 rs199422270 GRCh37: 3:169482736-169482739
GRCh38: 3:169764948-169764951
17 TERC , LOC110806306 NR_001566.1(TERC):n.-240_-239del Microsatellite Pathogenic 39279 rs199422255 GRCh37: 3:169483087-169483088
GRCh38: 3:169765299-169765300
18 TERC NR_001566.1(TERC):n.107_108delinsAG Indel Pathogenic 7321 rs199476393 GRCh37: 3:169482741-169482742
GRCh38: 3:169764953-169764954
19 TERT NM_198253.3(TERT):c.2935C>T (p.Arg979Trp) SNV Pathogenic 39118 rs199422305 GRCh37: 5:1260624-1260624
GRCh38: 5:1260509-1260509
20 TERT NM_198253.3(TERT):c.2177C>T (p.Thr726Met) SNV Pathogenic 39111 rs149566858 GRCh37: 5:1278865-1278865
GRCh38: 5:1278750-1278750
21 TERT NM_198253.3(TERT):c.2110C>T (p.Pro704Ser) SNV Pathogenic 39108 rs199422297 GRCh37: 5:1279426-1279426
GRCh38: 5:1279311-1279311
22 TINF2 NM_001099274.3(TINF2):c.892del (p.Gln298fs) Deletion Pathogenic 38928 rs199422320 GRCh37: 14:24709794-24709794
GRCh38: 14:24240588-24240588
23 TINF2 NM_001099274.3(TINF2):c.871A>G (p.Arg291Gly) SNV Pathogenic 38927 rs199422319 GRCh37: 14:24709815-24709815
GRCh38: 14:24240609-24240609
24 TINF2 NM_001099274.3(TINF2):c.865_866delinsAG (p.Pro289Ser) Indel Pathogenic 38926 rs199422318 GRCh37: 14:24709820-24709821
GRCh38: 14:24240614-24240615
25 TINF2 NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro) SNV Pathogenic 38924 rs199422316 GRCh37: 14:24709826-24709826
GRCh38: 14:24240620-24240620
26 TINF2 NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala) SNV Pathogenic 38923 rs199422314 GRCh37: 14:24709836-24709836
GRCh38: 14:24240630-24240630
27 TINF2 NM_001099274.3(TINF2):c.849dup (p.Thr284fs) Duplication Pathogenic 38922 rs199422315 GRCh37: 14:24709836-24709837
GRCh38: 14:24240630-24240631
28 TINF2 NM_001099274.3(TINF2):c.848C>A (p.Pro283His) SNV Pathogenic 38921 rs199422313 GRCh37: 14:24709838-24709838
GRCh38: 14:24240632-24240632
29 TINF2 NM_001099274.3(TINF2):c.847C>T (p.Pro283Ser) SNV Pathogenic 38920 rs199422311 GRCh37: 14:24709839-24709839
GRCh38: 14:24240633-24240633
30 TINF2 NM_001099274.3(TINF2):c.847C>G (p.Pro283Ala) SNV Pathogenic 38919 rs199422311 GRCh37: 14:24709839-24709839
GRCh38: 14:24240633-24240633
31 TINF2 NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys) SNV Pathogenic 5627 rs121918545 GRCh37: 14:24709842-24709842
GRCh38: 14:24240636-24240636
32 TINF2 NM_001099274.3(TINF2):c.844C>A (p.Arg282Ser) SNV Pathogenic 5626 rs121918545 GRCh37: 14:24709842-24709842
GRCh38: 14:24240636-24240636
33 TGM1 , TINF2 NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys) SNV Pathogenic 38918 rs199422322 GRCh37: 14:24709845-24709845
GRCh38: 14:24240639-24240639
34 TINF2 NM_001099274.3(TINF2):c.838A>T (p.Lys280Ter) SNV Pathogenic 38917 rs121918543 GRCh37: 14:24709848-24709848
GRCh38: 14:24240642-24240642
35 TINF2 NM_001099274.3(TINF2):c.838A>G (p.Lys280Glu) SNV Pathogenic 5624 rs121918543 GRCh37: 14:24709848-24709848
GRCh38: 14:24240642-24240642
36 TINF2 NM_001099274.3(TINF2):c.734C>A (p.Ser245Tyr) SNV Pathogenic 38916 rs142777869 GRCh37: 14:24709952-24709952
GRCh38: 14:24240746-24240746
37 TINF2 NM_001099274.3(TINF2):c.706C>T (p.Pro236Ser) SNV Pathogenic 38915 rs199422321 GRCh37: 14:24709980-24709980
GRCh38: 14:24240774-24240774
38 overlap with 3 genes NM_032487.4(ACTRT3):c.831_*2687del2976 Deletion Pathogenic 40977 GRCh37: 3:169482529-169485504
GRCh38: 3:169764741-169767716
39 TERT NM_198253.3(TERT):c.2162C>G (p.Pro721Arg) SNV Pathogenic 39110 rs199422299 GRCh37: 5:1278880-1278880
GRCh38: 5:1278765-1278765
40 TERT NM_198253.3(TERT):c.2045G>A (p.Gly682Asp) SNV Pathogenic 39106 rs199422295 GRCh37: 5:1279491-1279491
GRCh38: 5:1279376-1279376
41 TERT NM_198253.3(TERT):c.2029G>T (p.Gly677Cys) SNV Pathogenic 39105 rs199422296 GRCh37: 5:1279507-1279507
GRCh38: 5:1279392-1279392
42 TERT TERT:c.1710G>Y (p.Lys570Asn) SNV Pathogenic 39103 rs1554041299 GRCh37: 5:1282603-1282603
GRCh38: 5:1282488-1282488
43 TERC , MECOM NM_004991.4(MECOM):c.38-101210del Deletion Likely pathogenic 916673 GRCh37: 3:169200522-169200522
GRCh38: 3:169482734-169482734
44 TERC , MECOM NM_004991.4(MECOM):c.38-101211_38-101210del Deletion Likely pathogenic 916672 GRCh37: 3:169200522-169200523
GRCh38: 3:169482734-169482735
45 TERC NR_001566.1(TERC):n.407_408delinsAA Indel Likely pathogenic 446379 rs1553915580 GRCh37: 3:169482441-169482442
GRCh38: 3:169764653-169764654
46 TERC , MECOM NC_000003.12:g.(?_169481351)_(169484227_?)del Deletion Likely pathogenic 972905 GRCh37:
GRCh38: 3:169481351-169484227
47 TERC , MECOM NM_004991.4(MECOM):c.38-100973_38-100960del Deletion Likely pathogenic 972906 GRCh37: 3:169200272-169200285
GRCh38: 3:169482484-169482497
48 TERC NR_001566.1(TERC):n.443C>A SNV Likely pathogenic 436977 rs1553915577 GRCh37: 3:169482406-169482406
GRCh38: 3:169764618-169764618
49 TERC NR_001566.1(TERC):n.306T>G SNV Likely pathogenic 436976 rs1553915591 GRCh37: 3:169482543-169482543
GRCh38: 3:169764755-169764755
50 INPP4A NM_001134225.2(INPP4A):c.36C>T (p.Ala12=) SNV Likely pathogenic 623236 rs1306444586 GRCh37: 2:99136547-99136547
GRCh38: 2:98520084-98520084

Expression for Dyskeratosis Congenita Autosomal Dominant

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

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
Show member pathways
11.79 TINF2 TERT DKC1 ACD
2
Show member pathways
11.68 TINF2 MECOM ACD
3 10.74 TINF2 TERT DKC1 ACD

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

Sources for Dyskeratosis Congenita Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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