ECA1
MCID: EPL200
MIFTS: 29

Epilepsy, Childhood Absence 1 (ECA1)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy, Childhood Absence 1

MalaCards integrated aliases for Epilepsy, Childhood Absence 1:

Name: Epilepsy, Childhood Absence 1 57 29 6
Epilepsy, Childhood Absence, 1 57 13 72
Epilepsy, Childhood Absence, Susceptibility to, 1 57
Eca1 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in childhood (6-7 years)
seizures may remit in adolescence
high frequency of absence seizures (several per day)
seizures may persist into adulthood
accounts for 5-15% of childhood epilepsies
genetic heterogeneity (see eca2, )


HPO:

32
epilepsy, childhood absence 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course childhood onset


Classifications:



External Ids:

OMIM 57 600131
MedGen 42 C1838604
UMLS 72 C1838604

Summaries for Epilepsy, Childhood Absence 1

OMIM : 57 Childhood absence epilepsy (CAE, ECA), a subtype of idiopathic generalized epilepsy (EIG; 600669), is characterized by a sudden and brief impairment of consciousness that is accompanied by a generalized, synchronous, bilateral, 2.5- to 4-Hz spike and slow-wave discharge (SWD) on EEG. Seizure onset occurs between 3 and 8 years of age and seizures generally occur multiple times per day. About 70% of patients experience spontaneous remission of seizures, often around adolescence. There are no structural neuropathologic findings in patients with ECA (Crunelli and Leresche, 2002). (600131)

MalaCards based summary : Epilepsy, Childhood Absence 1, also known as epilepsy, childhood absence, 1, is related to childhood absence epilepsy and epilepsy, idiopathic generalized, and has symptoms including absence seizures An important gene associated with Epilepsy, Childhood Absence 1 is GABRB3 (Gamma-Aminobutyric Acid Type A Receptor Beta3 Subunit). Affiliated tissues include testes and eye, and related phenotypes are generalized tonic-clonic seizures and eeg with polyspike wave complexes

Related Diseases for Epilepsy, Childhood Absence 1

Diseases in the Childhood Absence Epilepsy family:

Epilepsy, Childhood Absence 1 Epilepsy, Childhood Absence 6
Epilepsy, Childhood Absence 5

Diseases related to Epilepsy, Childhood Absence 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 4, show less)
# Related Disease Score Top Affiliating Genes
1 childhood absence epilepsy 31.3 GABRB3 ECA1
2 epilepsy, idiopathic generalized 11.2
3 epilepsy, idiopathic generalized 13 11.2
4 epilepsy, childhood absence 6 11.2

Symptoms & Phenotypes for Epilepsy, Childhood Absence 1

Human phenotypes related to Epilepsy, Childhood Absence 1:

32 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures 32 HP:0002069
2 eeg with polyspike wave complexes 32 HP:0002392
3 absence seizure 32 HP:0002121
4 febrile seizures 32 HP:0002373
5 eeg with spike-wave complexes (>3.5 hz) 32 HP:0010849

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
absence seizures
febrile seizures may occur
generalized tonic-clonic seizures (often develop in adolescence)
eeg shows 3-4-hz spike and multispike slow wave complexes

Clinical features from OMIM:

600131

UMLS symptoms related to Epilepsy, Childhood Absence 1:


absence seizures

Drugs & Therapeutics for Epilepsy, Childhood Absence 1

Search Clinical Trials , NIH Clinical Center for Epilepsy, Childhood Absence 1

Genetic Tests for Epilepsy, Childhood Absence 1

Genetic tests related to Epilepsy, Childhood Absence 1:

# Genetic test Affiliating Genes
1 Epilepsy, Childhood Absence 1 29

Anatomical Context for Epilepsy, Childhood Absence 1

MalaCards organs/tissues related to Epilepsy, Childhood Absence 1:

41
Testes, Eye

Publications for Epilepsy, Childhood Absence 1

Articles related to Epilepsy, Childhood Absence 1:

(showing 54, show less)
# Title Authors PMID Year
1
Childhood absence epilepsy in 8q24: refinement of candidate region and construction of physical map. 38 8
10995568 2000
2
Exclusion of the JRK/JH8 gene as a candidate for human childhood absence epilepsy mapped on 8q24. 38 8
10510981 1999
3
Enhanced tonic GABAA inhibition in typical absence epilepsy. 8
19966779 2009
4
Genetic influences on myoclonic and absence seizures. 8
14663045 2003
5
Childhood absence epilepsy: genes, channels, neurons and networks. 8
11988776 2002
6
Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. 8
11326275 2001
7
Childhood absence epilepsy with tonic-clonic seizures and electroencephalogram 3-4-Hz spike and multispike-slow wave complexes: linkage to chromosome 8q24. 8
9758624 1998
8
Concordance of clinical forms of epilepsy in families with several affected members. Italian League Against Epilepsy Genetic Collaborative Group. 8
8404731 1993
9
Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy. 8
2502382 1989
10
Beneficial Effects of Ethyl-Cyanoacrylate Coating Against Candida Albicans Biofilm Formation. 38
31166390 2019
11
Genome-Wide Association Studies Based on Equine Joint Angle Measurements Reveal New QTL Affecting the Conformation of Horses. 38
31091839 2019
12
Identification and validation of genetic variants predictive of gait in standardbred horses. 38
31136578 2019
13
Identification of loci affecting sexually dimorphic patterns for height and recurrent laryngeal neuropathy risk in American Belgian Draft Horses. 38
30265593 2018
14
Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses. 38
30058072 2018
15
Detecting genetic regions associated with height in the native ponies of the British Isles by using high density SNP genotyping. 38
30184439 2018
16
MIZ1 regulates ECA1 to generate a slow, long-distance phloem-transmitted Ca2+ signal essential for root water tracking in Arabidopsis. 38
30012618 2018
17
Genetic contributions to precocity traits in racing Thoroughbreds. 38
29230835 2018
18
Differences between horse selection based on two forms of osteochondrosis in fetlock. 38
29524049 2018
19
Draft Genome Sequences of Enterohemorrhagic and Enteropathogenic Escherichia coli Strains Isolated from Alpacas in Peru. 38
29301877 2018
20
Two Variants in SLC24A5 Are Associated with "Tiger-Eye" Iris Pigmentation in Puerto Rican Paso Fino Horses. 38
28655738 2017
21
Differential Roles for Six P-Type Calcium ATPases in Sustaining Intracellular Ca2+ Homeostasis, Asexual Cycle and Environmental Fitness of Beauveria bassiana. 38
28469160 2017
22
Phosphatidic acid binding proteins display differential binding as a function of membrane curvature stress and chemical properties. 38
27480805 2016
23
Selection signatures in Shetland ponies. 38
26857482 2016
24
Redundant contribution of a Transient Receptor Potential cation channel Member 1 exon 11 single nucleotide polymorphism to equine congenital stationary night blindness. 38
27329127 2016
25
A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses. 38
26452345 2015
26
Genetic risk factors for insidious equine recurrent uveitis in Appaloosa horses. 38
24467435 2014
27
Same same but different: sperm-activating EC1 and ECA1 gametogenesis-related family proteins. 38
24646251 2014
28
Equine developmental orthopaedic diseases--a genome-wide association study of first phalanx plantar osteochondral fragments in Standardbred trotters. 38
23742657 2013
29
The calcium transporter Pmc1 provides Ca2+ tolerance and influences the progression of murine cryptococcal infection. 38
23895559 2013
30
Analysis of copy number variants by three detection algorithms and their association with body size in horses. 38
23865711 2013
31
A genome-wide association study for quantitative trait loci of show-jumping in Hanoverian warmblood horses. 38
22497689 2012
32
Nucleolar organizer regions (NORs) distribution and behavior in spermatozoa and meiotic cells of the horse (Equus caballus). 38
22056014 2012
33
Fine-mapping and mutation analysis of TRPM1: a candidate gene for leopard complex (LP) spotting and congenital stationary night blindness in horses. 38
20353955 2010
34
Whole-genome scan identifies quantitative trait loci for chronic pastern dermatitis in German draft horses. 38
20039044 2010
35
Differential expression of candidate salt-tolerance genes in the halophyte Helianthus paradoxus and its glycophyte progenitors H. annuus and H. petiolaris (Asteraceae). 38
21622304 2009
36
HvPG1 and ECA1: two genes activated transcriptionally in the transition of barley microspores from the gametophytic to the embryogenic pathway. 38
19112566 2009
37
A tomato ER-type Ca2+-ATPase, LCA1, has a low thapsigargin-sensitivity and can transport manganese. 38
19056336 2009
38
Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus). 38
18660533 2008
39
Eca1, a sarcoplasmic/endoplasmic reticulum Ca2+-ATPase, is involved in stress tolerance and virulence in Cryptococcus neoformans. 38
17502401 2007
40
Homozygosity mapping approach identifies a missense mutation in equine cyclophilin B (PPIB) associated with HERDA in the American Quarter Horse. 38
17498917 2007
41
Familial occurrence of early-onset childhood absence epilepsy. 38
17267250 2007
42
Assignment of the appaloosa coat colour gene (LP) to equine chromosome 1. 38
15025575 2004
43
Calcium signaling is involved in dynein-dependent microtubule organization. 38
14742707 2004
44
[Analysis of haplotype-based haplotype relative risk and transmission disequilibrium test in childhood absence epilepsy]. 38
14733810 2003
45
An endoplasmic reticulum-bound Ca(2+)/Mn(2+) pump, ECA1, supports plant growth and confers tolerance to Mn(2+) stress. 38
12226493 2002
46
Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q. 38
11904235 2002
47
T-STAR gene: fine mapping in the candidate region for childhood absence epilepsy on 8q24 and mutational analysis in patients. 38
11463515 2001
48
Characterization of cDNAs expressed in the early stages of microspore embryogenesis in barley (Hordeum vulgare) L. 38
10608656 1999
49
Construction of chromosome-specific paints for meta- and submetacentric autosomes and the sex chromosomes in the horse and their use to detect homologous chromosomal segments in the donkey. 38
10328622 1999
50
A high-affinity Ca2+ pump, ECA1, from the endoplasmic reticulum is inhibited by cyclopiazonic acid but not by thapsigargin. 38
9808725 1998
51
A primary male autosomal linkage map of the horse genome. 38
9750194 1998
52
ECA1 complements yeast mutants defective in Ca2+ pumps and encodes an endoplasmic reticulum-type Ca2+-ATPase in Arabidopsis thaliana. 38
9238019 1997
53
Genetical and physical assignments of equine microsatellites--first integration of anchored markers in horse genome mapping. 38
9096108 1997
54
Studies on conformational transitions of Ca2+,Mg2+-adenosine triphosphatase of sarcoplasmic reticulum. II. Conformational characteristics of stabilized reaction intermediates as revealed by fluorescent and paramagnetic probes. 38
6139371 1983

Variations for Epilepsy, Childhood Absence 1

ClinVar genetic disease variations for Epilepsy, Childhood Absence 1:

6 (showing 65, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GABRB3 NM_021912.5(GABRB3): c.695G> A (p.Arg232Gln) single nucleotide variant Pathogenic/Likely pathogenic rs797045045 15:26812868-26812868 15:26567721-26567721
2 LOC101927358 ; MIR6130 ; RORB ; RORB-AS1 9q21.13 deletion deletion Likely pathogenic
3 GABRB3 NM_021912.5(GABRB3): c.895A> C (p.Lys299Gln) single nucleotide variant Likely pathogenic 15:26806264-26806264 15:26561117-26561117
4 GABRB3 NM_021912.5(GABRB3): c.683-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs759453899 15:26812887-26812887 15:26567740-26567740
5 GABRB3 NM_021912.5(GABRB3): c.380A> G (p.Lys127Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs1057519201 15:26866542-26866542 15:26621395-26621395
6 GABRB3 NM_021912.5(GABRB3): c.1293G> A (p.Arg431=) single nucleotide variant Conflicting interpretations of pathogenicity rs75914945 15:26793069-26793069 15:26547922-26547922
7 GABRB3 NM_021912.5(GABRB3): c.183C> G (p.Val61=) single nucleotide variant Conflicting interpretations of pathogenicity rs778097525 15:27017606-27017606 15:26772459-26772459
8 GABRB3 NM_021912.5(GABRB3): c.239T> C (p.Met80Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs1064794797 15:27017550-27017550 15:26772403-26772403
9 GABRB3 NM_021912.5(GABRB3): c.1078C> T (p.Arg360Trp) single nucleotide variant Uncertain significance rs771568810 15:26806081-26806081 15:26560934-26560934
10 GABRB3 NC_000015.9: g.(?_26792920)_(27020442_?)del deletion Uncertain significance
11 GABRB3 NC_000015.9: g.(?_26792920)_(27020442_?)dup duplication Uncertain significance
12 GABRB3 NM_021912.5(GABRB3): c.175C> T (p.Pro59Ser) single nucleotide variant Uncertain significance rs1555383878 15:27017614-27017614 15:26772467-26772467
13 GABRB3 NM_021912.5(GABRB3): c.504C> A (p.Tyr168Ter) single nucleotide variant Uncertain significance rs1060502665 15:26828519-26828519 15:26583372-26583372
14 GABRB3 NM_021912.5(GABRB3): c.217G> C (p.Asp73His) single nucleotide variant Uncertain significance rs768859258 15:27017572-27017572 15:26772425-26772425
15 GABRB3 NM_000814.5(GABRB3): c.-114_*4247del deletion Uncertain significance 15:26788693-27018223 15:26543546-26773076
16 GABRB3 NM_021912.5(GABRB3): c.910A> G (p.Lys304Glu) single nucleotide variant Uncertain significance rs1555401426 15:26806249-26806249 15:26561102-26561102
17 GABRB3 NM_021912.5(GABRB3): c.1021A> C (p.Lys341Gln) single nucleotide variant Uncertain significance rs761102474 15:26806138-26806138 15:26560991-26560991
18 GABRB3 NM_021912.5(GABRB3): c.995T> C (p.Phe332Ser) single nucleotide variant Uncertain significance rs1555401411 15:26806164-26806164 15:26561017-26561017
19 GABRB3 NM_021912.5(GABRB3): c.292G> A (p.Ala98Thr) single nucleotide variant Uncertain significance rs756369937 15:26866630-26866630 15:26621483-26621483
20 GABRB3 NM_021912.5(GABRB3): c.841A> G (p.Thr281Ala) single nucleotide variant Uncertain significance rs1555401442 15:26806318-26806318 15:26561171-26561171
21 GABRB3 NM_021912.5(GABRB3): c.1058G> A (p.Arg353His) single nucleotide variant Uncertain significance rs200057173 15:26806101-26806101 15:26560954-26560954
22 GABRB3 NM_021912.5(GABRB3): c.682_682+3dup duplication Uncertain significance rs1254941219 15:26825463-26825466 15:26580316-26580319
23 GABRB3 NM_021912.5(GABRB3): c.418A> G (p.Met140Val) single nucleotide variant Uncertain significance rs1555371848 15:26866504-26866504 15:26621357-26621357
24 GABRB3 NC_000015.9: g.(?_26812708)_(26874170_?)del deletion Uncertain significance 15:26812708-26874170 15:26567561-26629023
25 GABRB3 NM_021912.5(GABRB3): c.712C> T (p.Arg238Trp) single nucleotide variant Uncertain significance rs144496462 15:26812851-26812851 15:26567704-26567704
26 GABRB3 NM_021912.5(GABRB3): c.506C> T (p.Pro169Leu) single nucleotide variant Uncertain significance rs1555368630 15:26828517-26828517 15:26583370-26583370
27 GABRB3 NM_021912.5(GABRB3): c.487A> G (p.Met163Val) single nucleotide variant Uncertain significance rs1060502666 15:26828536-26828536 15:26583389-26583389
28 GABRB3 NM_021912.5(GABRB3): c.835+5G> A single nucleotide variant Uncertain significance 15:26812723-26812723 15:26567576-26567576
29 GABRB3 NM_021912.5(GABRB3): c.758C> A (p.Pro253His) single nucleotide variant Uncertain significance 15:26812805-26812805 15:26567658-26567658
30 GABRB3 NM_021912.5(GABRB3): c.1148G> A (p.Gly383Asp) single nucleotide variant Uncertain significance 15:26793214-26793214 15:26548067-26548067
31 GABRB3 NM_021912.5(GABRB3): c.640G> A (p.Val214Met) single nucleotide variant Uncertain significance 15:26825508-26825508 15:26580361-26580361
32 GABRB3 NM_021912.5(GABRB3): c.557C> T (p.Thr186Met) single nucleotide variant Uncertain significance 15:26825591-26825591 15:26580444-26580444
33 GABRB3 NC_000015.9: g.(?_26792920)_(27018162_?)dup duplication Uncertain significance 15:26792920-27018162 15:26547773-26773015
34 GABRB3 NM_021912.5(GABRB3): c.296A> G (p.Tyr99Cys) single nucleotide variant Uncertain significance 15:26866626-26866626 15:26621479-26621479
35 GABRB3 NM_021912.5(GABRB3): c.1039G> C (p.Ala347Pro) single nucleotide variant Uncertain significance 15:26806120-26806120 15:26560973-26560973
36 GABRB3 NM_021912.5(GABRB3): c.701C> T (p.Ser234Leu) single nucleotide variant Uncertain significance 15:26812862-26812862 15:26567715-26567715
37 GABRB3 NM_021912.5(GABRB3): c.1153A> G (p.Ile385Val) single nucleotide variant Uncertain significance 15:26793209-26793209 15:26548062-26548062
38 GABRB3 NM_021912.5(GABRB3): c.1052A> G (p.Asn351Ser) single nucleotide variant Uncertain significance 15:26806107-26806107 15:26560960-26560960
39 GABRB3 NM_021912.5(GABRB3): c.545A> G (p.Tyr182Cys) single nucleotide variant Uncertain significance 15:26825603-26825603 15:26580456-26580456
40 GABRB3 NM_021912.5(GABRB3): c.428T> G (p.Leu143Arg) single nucleotide variant Uncertain significance 15:26866494-26866494 15:26621347-26621347
41 GABRB3 NM_021912.5(GABRB3): c.331C> T (p.Arg111Ter) single nucleotide variant Uncertain significance 15:26866591-26866591 15:26621444-26621444
42 GABRB3 NM_021912.5(GABRB3): c.184T> G (p.Cys62Gly) single nucleotide variant Uncertain significance 15:27017605-27017605 15:26772458-26772458
43 GABRB3 NM_021912.5(GABRB3): c.2T> C (p.Met1Thr) single nucleotide variant Uncertain significance 15:27018870-27018870 15:26773723-26773723
44 GABRB3 NC_000015.9: g.(?_27017808)_(27020442_?)dup duplication Uncertain significance 15:27017808-27020442 15:26772661-26775295
45 GABRB3 NM_021912.5(GABRB3): c.650G> A (p.Arg217His) single nucleotide variant Uncertain significance rs121913125 15:26825498-26825498 15:26580351-26580351
46 GABRB3 NM_021912.5(GABRB3): c.1057C> T (p.Arg353Cys) single nucleotide variant Uncertain significance rs775988401 15:26806102-26806102 15:26560955-26560955
47 GABRB3 NM_021912.5(GABRB3): c.417C> T (p.Arg139=) single nucleotide variant Uncertain significance rs933729675 15:26866505-26866505 15:26621358-26621358
48 GABRB3 NM_021912.5(GABRB3): c.1068C> T (p.Ser356=) single nucleotide variant Likely benign rs369761963 15:26806091-26806091 15:26560944-26560944
49 GABRB3 NM_021912.5(GABRB3): c.1338T> C (p.Asn446=) single nucleotide variant Likely benign rs370026053 15:26793024-26793024 15:26547877-26547877
50 GABRB3 NM_021912.5(GABRB3): c.835+8C> T single nucleotide variant Likely benign rs75812437 15:26812720-26812720 15:26567573-26567573
51 GABRB3 NM_021912.5(GABRB3): c.1269C> G (p.His423Gln) single nucleotide variant Likely benign rs76962261 15:26793093-26793093 15:26547946-26547946
52 GABRB3 NM_021912.5(GABRB3): c.241-8C> T single nucleotide variant Likely benign rs532293456 15:26866689-26866689 15:26621542-26621542
53 GABRB3 NM_021912.5(GABRB3): c.300T> C (p.Ser100=) single nucleotide variant Likely benign rs975508044 15:26866622-26866622 15:26621475-26621475
54 GABRB3 NM_021912.5(GABRB3): c.1204T> C (p.Tyr402His) single nucleotide variant Likely benign rs185383468 15:26793158-26793158 15:26548011-26548011
55 GABRB3 NM_021912.5(GABRB3): c.894C> T (p.Pro298=) single nucleotide variant Likely benign rs139378274 15:26806265-26806265 15:26561118-26561118
56 GABRB3 NM_021912.5(GABRB3): c.1081-10G> A single nucleotide variant Likely benign rs200137318 15:26793291-26793291 15:26548144-26548144
57 GABRB3 NM_000814.5(GABRB3): c.-742G> A single nucleotide variant Likely benign rs1060504683 15:27018851-27018851 15:26773704-26773704
58 GABRB3 NM_021912.5(GABRB3): c.1110A> G (p.Thr370=) single nucleotide variant Likely benign rs200523834 15:26793252-26793252 15:26548105-26548105
59 GABRB3 NM_021912.5(GABRB3): c.1005C> G (p.Gly335=) single nucleotide variant Likely benign rs74907974 15:26806154-26806154 15:26561007-26561007
60 GABRB3 NM_021912.5(GABRB3): c.156A> T (p.Leu52=) single nucleotide variant Likely benign rs368193507 15:27017844-27017844 15:26772697-26772697
61 GABRB3 NM_021912.5(GABRB3): c.87C> T (p.Asn29=) single nucleotide variant Likely benign rs772263479 15:27017913-27017913 15:26772766-26772766
62 GABRB3 NM_021912.5(GABRB3): c.969G> A (p.Glu323=) single nucleotide variant Likely benign rs77608123 15:26806190-26806190 15:26561043-26561043
63 GABRB3 NM_021912.5(GABRB3): c.1005C> T (p.Gly335=) single nucleotide variant Benign rs74907974 15:26806154-26806154 15:26561007-26561007
64 GABRB3 NM_021912.5(GABRB3): c.783G> A (p.Ser261=) single nucleotide variant Benign rs76812964 15:26812780-26812780 15:26567633-26567633
65 GABRB3 NM_021912.5(GABRB3): c.603C> T (p.Thr201=) single nucleotide variant Benign rs75965657 15:26825545-26825545 15:26580398-26580398

Expression for Epilepsy, Childhood Absence 1

Search GEO for disease gene expression data for Epilepsy, Childhood Absence 1.

Pathways for Epilepsy, Childhood Absence 1

GO Terms for Epilepsy, Childhood Absence 1

Sources for Epilepsy, Childhood Absence 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....