GEFSP1
MCID: GNR038
MIFTS: 40

Generalized Epilepsy with Febrile Seizures Plus, Type 1 (GEFSP1)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Generalized Epilepsy with Febrile Seizures Plus, Type 1

MalaCards integrated aliases for Generalized Epilepsy with Febrile Seizures Plus, Type 1:

Name: Generalized Epilepsy with Febrile Seizures Plus, Type 1 57 29 6 71
Epilepsy, Generalized, with Febrile Seizures Plus, Type 1 57 13 39
Generalized Epilepsy with Febrile Seizures Plus 1 12 73 15
Gefsp1 57 12 73
Gefs+1 57 12 73
Generalised Epilepsy with Febrile Seizures Plus Type 1 12
Generalized Epilepsy with Febrile Seizures Plus Type 1 12
Generalised Epilepsy with Febrile Seizures Plus 1 12
Gefs+, Type 1; Gefs+1 57
Gefs+, Type 1 57
Gefs+ Type 1 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance
highly variable phenotype
onset of febrile seizures typically between 6 months and 6 years of age
persistence of febrile seizures beyond age 6 years
development of afebrile seizures later in childhood

Inheritance:
autosomal dominant


HPO:

31
generalized epilepsy with febrile seizures plus, type 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111302
OMIM® 57 604233
OMIM Phenotypic Series 57 PS604233
MedGen 41 C1858672
UMLS 71 C1858672

Summaries for Generalized Epilepsy with Febrile Seizures Plus, Type 1

OMIM® : 57 Generalized epilepsy with febrile seizures plus, type 1 (GEFSP1) is an autosomal dominant neurologic disorder characterized by onset of seizures associated with fever in infancy or early childhood. There is wide phenotypic variability, even within families. In contrast to classic febrile seizures (see, e.g., FEB1, 121210), which affect approximately 3% of children under 6 years of age and typically spontaneously remit by age 6 years, patients with GEFSP1 either have febrile seizures extending beyond age 6 years or develop epilepsy with afebrile seizures. Other seizure types include absence seizures, partial seizures, myoclonic seizures, and atonic seizures. Some patients may have developmental delay after the onset of seizures (summary by Wallace et al., 1998 and Singh et al., 1999). Deprez et al. (2009) reviewed the genetics of epilepsy syndromes starting in the first year of life, and included a diagnostic algorithm. (604233) (Updated 05-Mar-2021)

MalaCards based summary : Generalized Epilepsy with Febrile Seizures Plus, Type 1, also known as epilepsy, generalized, with febrile seizures plus, type 1, is related to febrile seizures and seizure disorder, and has symptoms including absence seizures An important gene associated with Generalized Epilepsy with Febrile Seizures Plus, Type 1 is SCN1B (Sodium Voltage-Gated Channel Beta Subunit 1), and among its related pathways/superpathways are Cardiac conduction and Neuropathic Pain-Signaling in Dorsal Horn Neurons. Affiliated tissues include skeletal muscle, and related phenotypes are atonic seizure and bilateral tonic-clonic seizure

Disease Ontology : 12 A generalized epilepsy with febrile seizures plus that has material basis in heterozygous mutation in SCN1B on chromosome 19q13.11.

UniProtKB/Swiss-Prot : 73 Generalized epilepsy with febrile seizures plus 1: A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.

Related Diseases for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Diseases in the Generalized Epilepsy with Febrile Seizures Plus family:

Generalized Epilepsy with Febrile Seizures Plus, Type 1 Generalized Epilepsy with Febrile Seizures Plus, Type 2
Generalized Epilepsy with Febrile Seizures Plus, Type 4 Generalized Epilepsy with Febrile Seizures Plus, Type 6
Generalized Epilepsy with Febrile Seizures Plus, Type 8 Generalized Epilepsy with Febrile Seizures Plus, Type 7
Generalized Epilepsy with Febrile Seizures Plus, Type 9 Generalized Epilepsy with Febrile Seizures Plus, Type 10

Diseases related to Generalized Epilepsy with Febrile Seizures Plus, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 57)
# Related Disease Score Top Affiliating Genes
1 febrile seizures 30.4 SCN1B SCN1A GABRG2
2 seizure disorder 30.3 SCN1B SCN1A GABRG2
3 generalized epilepsy with febrile seizures plus 27.8 SCN7A SCN1B SCN1A PTPRZ1 PTPRB NFASC
4 genetic epilepsy with febrile seizures plus 10.3
5 scn1a seizure disorders 10.2 SCN1A LOC102724058
6 developmental and epileptic encephalopathy 13 10.2 SCN1B SCN1A
7 plagiocephaly 10.2 SCN1A LOC102724058
8 infancy electroclinical syndrome 10.2 SCN1B SCN1A
9 benign neonatal seizures 10.1 SCN1B SCN1A
10 long qt syndrome 3 10.1 SCN1B SCN1A
11 myoclonic epilepsy of infancy 10.1 SCN1A GABRG2
12 verbal auditory agnosia 10.1 SCN1B GABRG2
13 paroxysmal extreme pain disorder 10.1 SCN1B SCN1A
14 reflex epilepsy 10.1 SCN1A GABRG2
15 febrile seizures, familial, 11 10.1 SCN1A GABRG2
16 erythromelalgia 10.1 SCN7A SCN1A
17 landau-kleffner syndrome 10.1 SCN1A GABRG2
18 juvenile absence epilepsy 10.1 SCN1A GABRG2
19 paramyotonia congenita of von eulenburg 10.0 SCN1B SCN1A
20 sturge-weber syndrome 10.0 SCN1A GABRG2
21 somatoform disorder 10.0 SCN1A ATP4A
22 hyperkalemic periodic paralysis 10.0 SCN1A PTPRZ1
23 febrile seizures, familial, 6 10.0 SCN1B SCN1A GABRG2
24 febrile seizures, familial, 5 10.0 SCN1B SCN1A GABRG2
25 febrile seizures, familial, 2 10.0 SCN1B SCN1A GABRG2
26 early onset absence epilepsy 10.0 SCN1B SCN1A GABRG2
27 epilepsy, familial temporal lobe, 5 10.0 SCN1B SCN1A GABRG2
28 febrile seizures, familial, 1 10.0 SCN1B SCN1A GABRG2
29 febrile seizures, familial, 8 10.0 SCN1B SCN1A GABRG2
30 febrile seizures, familial, 4 10.0 SCN1B SCN1A GABRG2
31 epilepsy, nocturnal frontal lobe, 1 10.0 SCN1B SCN1A GABRG2
32 epilepsy with generalized tonic-clonic seizures 10.0 SCN1B SCN1A GABRG2
33 generalized epilepsy with febrile seizures plus, type 7 10.0 SCN1B SCN1A GABRG2
34 adolescence-adult electroclinical syndrome 10.0 SCN1B SCN1A GABRG2
35 electroclinical syndrome 9.9 SCN1B SCN1A GABRG2
36 photosensitive epilepsy 9.9 SCN1B SCN1A GABRG2
37 childhood electroclinical syndrome 9.9 SCN1B SCN1A GABRG2
38 benign familial neonatal epilepsy 9.9 SCN1B SCN1A GABRG2
39 neonatal period electroclinical syndrome 9.9 SCN1B SCN1A GABRG2
40 unverricht-lundborg syndrome 9.9 SCN1B SCN1A GABRG2
41 benign familial infantile epilepsy 9.9 SCN1B SCN1A GABRG2
42 familial febrile seizures 9.9 SCN1B SCN1A GABRG2
43 lennox-gastaut syndrome 9.9 SCN1B SCN1A GABRG2
44 autosomal dominant nocturnal frontal lobe epilepsy 9.9 SCN1B SCN1A GABRG2
45 early myoclonic encephalopathy 9.9 SCN1B SCN1A GABRG2
46 epilepsy, myoclonic juvenile 9.9 SCN1B SCN1A GABRG2
47 epilepsy, familial temporal lobe, 1 9.9 SCN1B GABRG2
48 epilepsy, idiopathic generalized 9.9 SCN1B SCN1A GABRG2
49 childhood absence epilepsy 9.9 SCN1B SCN1A GABRG2
50 benign epilepsy with centrotemporal spikes 9.9 SCN1B SCN1A GABRG2

Graphical network of the top 20 diseases related to Generalized Epilepsy with Febrile Seizures Plus, Type 1:



Diseases related to Generalized Epilepsy with Febrile Seizures Plus, Type 1

Symptoms & Phenotypes for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Human phenotypes related to Generalized Epilepsy with Febrile Seizures Plus, Type 1:

31
# Description HPO Frequency HPO Source Accession
1 atonic seizure 31 HP:0010819
2 bilateral tonic-clonic seizure 31 HP:0002069
3 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373
4 generalized non-motor (absence) seizure 31 HP:0002121

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
generalized tonic-clonic seizures
febrile seizures
absence seizures
afebrile seizures
myotonic seizures
more

Clinical features from OMIM®:

604233 (Updated 05-Mar-2021)

UMLS symptoms related to Generalized Epilepsy with Febrile Seizures Plus, Type 1:


absence seizures

Drugs & Therapeutics for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Search Clinical Trials , NIH Clinical Center for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Genetic Tests for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Genetic tests related to Generalized Epilepsy with Febrile Seizures Plus, Type 1:

# Genetic test Affiliating Genes
1 Generalized Epilepsy with Febrile Seizures Plus, Type 1 29 SCN1B

Anatomical Context for Generalized Epilepsy with Febrile Seizures Plus, Type 1

MalaCards organs/tissues related to Generalized Epilepsy with Febrile Seizures Plus, Type 1:

40
Skeletal Muscle

Publications for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Articles related to Generalized Epilepsy with Febrile Seizures Plus, Type 1:

(show all 13)
# Title Authors PMID Year
1
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. 6 57
14504340 2003
2
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. 6 57
12011299 2002
3
Generalized epilepsy with febrile seizures plus: a common childhood-onset genetic epilepsy syndrome. 6 57
9894880 1999
4
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 6 57
9697698 1998
5
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. 57
20437590 2010
6
Genetics of epilepsy syndromes starting in the first year of life. 57
19153375 2009
7
Modulation of sodium current in mammalian cells by an epilepsy-correlated beta 1-subunit mutation. 6
11866477 2002
8
Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. 57
9126059 1997
9
Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B. 61
31465153 2019
10
Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. 61
12486163 2002
11
Beta subunits: players in neuronal hyperexcitability? 61
11771642 2002
12
Skeletal muscle sodium channel is affected by an epileptogenic beta1 subunit mutation. 61
11263970 2001
13
Sodium channel beta subunits: anything but auxiliary. 61
11486343 2001

Variations for Generalized Epilepsy with Febrile Seizures Plus, Type 1

ClinVar genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 1:

6 (show top 50) (show all 81)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN1B NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) SNV Pathogenic 9252 rs104894718 19:35524558-35524558 19:35033654-35033654
2 SCN1B NM_001037.5(SCN1B):c.208-2A>C SNV Pathogenic 9253 rs724159982 19:35524401-35524401 19:35033497-35033497
3 SCN1B NM_001037.5(SCN1B):c.254G>A (p.Arg85His) SNV Pathogenic 60767 rs16969925 19:35524449-35524449 19:35033545-35033545
4 ATP4A GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992) copy number loss Pathogenic 625760 19:35111811-37744992
5 SCN1A NM_006920.6(SCN1A):c.2010+10G>C SNV Likely pathogenic 638433 rs1574214734 2:166900202-166900202 2:166043692-166043692
6 SCN1A NM_001165963.4(SCN1A):c.2867T>C (p.Met956Thr) SNV Likely pathogenic 915838 2:166894365-166894365 2:166037855-166037855
7 SCN1B NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) SNV Likely pathogenic 9252 rs104894718 19:35524558-35524558 19:35033654-35033654
8 SCN1B NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) SNV Conflicting interpretations of pathogenicity 190859 rs786205830 19:35524448-35524448 19:35033544-35033544
9 SCN1B NM_001037.5(SCN1B):c.448+193G>A SNV Uncertain significance 190847 rs66876876 19:35524836-35524836 19:35033932-35033932
10 SCN1B NM_001037.5(SCN1B):c.347C>T (p.Ser116Leu) SNV Uncertain significance 619998 19:35524542-35524542 19:35033638-35033638
11 SCN1B NM_001037.5(SCN1B):c.-93G>C SNV Uncertain significance 328831 rs886054340 19:35521632-35521632 19:35030728-35030728
12 SCN1B NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) SNV Uncertain significance 190870 rs786205834 19:35521762-35521762 19:35030858-35030858
13 SCN1B NM_001037.5(SCN1B):c.134G>A (p.Arg45His) SNV Uncertain significance 190857 rs180943300 19:35523525-35523525 19:35032621-35032621
14 SCN1B NM_001037.5(SCN1B):c.158C>A (p.Thr53Asn) SNV Uncertain significance 565664 rs1568348711 19:35523549-35523549 19:35032645-35032645
15 SCN1B NM_001037.5(SCN1B):c.150C>T (p.Asn50=) SNV Uncertain significance 328834 rs147073518 19:35523541-35523541 19:35032637-35032637
16 SCN1B NM_001037.5(SCN1B):c.-88A>C SNV Uncertain significance 328832 rs886054341 19:35521637-35521637 19:35030733-35030733
17 SCN1B NM_001037.5(SCN1B):c.-132C>G SNV Uncertain significance 328829 rs886054339 19:35521593-35521593 19:35030689-35030689
18 SCN1B NM_001037.5(SCN1B):c.448+124G>A SNV Uncertain significance 975994 19:35524767-35524767 19:35033863-35033863
19 SCN1B NM_001037.5(SCN1B):c.*464C>G SNV Uncertain significance 890065 19:35531159-35531159 19:35040255-35040255
20 SCN1B NM_001037.5(SCN1B):c.*486C>T SNV Uncertain significance 890066 19:35531181-35531181 19:35040277-35040277
21 SCN1B NM_001037.5(SCN1B):c.-72G>A SNV Uncertain significance 889934 19:35521653-35521653 19:35030749-35030749
22 SCN1B NM_001037.5(SCN1B):c.-31G>A SNV Uncertain significance 516623 rs776361009 19:35521694-35521694 19:35030790-35030790
23 SCN1B NM_001037.5(SCN1B):c.5+7C>T SNV Uncertain significance 257219 rs28365106 19:35530617-35530617 19:35039713-35039713
24 SCN1B NM_001037.5(SCN1B):c.*50C>T SNV Uncertain significance 891557 19:35530745-35530745 19:35039841-35039841
25 SCN1B NM_001037.5(SCN1B):c.*553C>T SNV Uncertain significance 891612 19:35531248-35531248 19:35040344-35040344
26 SCN1B NM_001037.5(SCN1B):c.449-2A>G SNV Uncertain significance 694617 rs1600370558 19:35530019-35530019 19:35039115-35039115
27 SCN1B NM_001037.5(SCN1B):c.40+2T>G SNV Uncertain significance 813749 19:35521766-35521766 19:35030862-35030862
28 SCN1B NM_001037.5(SCN1B):c.397G>A (p.Glu133Lys) SNV Uncertain significance 582475 19:35524592-35524592 19:35033688-35033688
29 SCN1B NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys) SNV Uncertain significance 816882 rs766910280 19:35524460-35524460 19:35033556-35033556
30 SCN1B NM_001037.5(SCN1B):c.287G>A (p.Arg96Gln) SNV Uncertain significance 889314 19:35524482-35524482 19:35033578-35033578
31 SCN1B NM_001037.5(SCN1B):c.*305C>T SNV Uncertain significance 889374 19:35531000-35531000 19:35040096-35040096
32 SCN1B NM_001037.5(SCN1B):c.*377C>T SNV Uncertain significance 889375 19:35531072-35531072 19:35040168-35040168
33 SCN1B NM_001037.5(SCN1B):c.*378G>A SNV Uncertain significance 889376 19:35531073-35531073 19:35040169-35040169
34 SCN1B NM_001037.5(SCN1B):c.-123A>T SNV Uncertain significance 889254 19:35521602-35521602 19:35030698-35030698
35 SCN1B NM_001037.5(SCN1B):c.636G>A (p.Thr212=) SNV Uncertain significance 890000 19:35530584-35530584 19:35039680-35039680
36 SCN1B NM_001037.5(SCN1B):c.*447A>G SNV Likely benign 890063 19:35531142-35531142 19:35040238-35040238
37 SCN1B NM_001037.5(SCN1B):c.*454C>A SNV Likely benign 890064 19:35531149-35531149 19:35040245-35040245
38 SCN1B NM_001037.5(SCN1B):c.492T>C (p.Tyr164=) SNV Likely benign 190853 rs535042320 19:35530064-35530064 19:35039160-35039160
39 SCN1B NM_001037.5(SCN1B):c.591-14C>A SNV Likely benign 257220 rs28365109 19:35530525-35530525 19:35039621-35039621
40 SCN1B NM_001037.5(SCN1B):c.300C>T (p.Asp100=) SNV Likely benign 138993 rs16969927 19:35524495-35524495 19:35033591-35033591
41 SCN1B NM_001037.5(SCN1B):c.*527T>C SNV Likely benign 891610 19:35531222-35531222 19:35040318-35040318
42 SCN1B NM_001037.5(SCN1B):c.*534C>T SNV Likely benign 891611 19:35531229-35531229 19:35040325-35040325
43 SCN1B NM_001037.5(SCN1B):c.*102A>T SNV Likely benign 891820 19:35530797-35530797 19:35039893-35039893
44 SCN1B NM_001037.5(SCN1B):c.*202C>T SNV Likely benign 891821 19:35530897-35530897 19:35039993-35039993
45 SCN1B NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) SNV Likely benign 190869 rs72552027 19:35521752-35521752 19:35030848-35030848
46 SCN1B NM_001037.5(SCN1B):c.-9C>A SNV Likely benign 139002 rs66671189 19:35521716-35521716 19:35030812-35030812
47 SCN1B NM_001037.5(SCN1B):c.-95C>T SNV Likely benign 328830 rs569134158 19:35521630-35521630 19:35030726-35030726
48 SCN1B NM_001037.5(SCN1B):c.40+15G>T SNV Benign 93481 rs72556351 19:35521779-35521779 19:35030875-35030875
49 SCN1B NM_001037.5(SCN1B):c.207+14G>A SNV Benign 138990 rs16969924 19:35523612-35523612 19:35032708-35032708
50 SCN1B NM_001037.5(SCN1B):c.-27G>C SNV Benign 328833 rs758958222 19:35521698-35521698 19:35030794-35030794

UniProtKB/Swiss-Prot genetic disease variations for Generalized Epilepsy with Febrile Seizures Plus, Type 1:

73
# Symbol AA change Variation ID SNP ID
1 SCN1B p.Cys121Trp VAR_010165 rs104894718
2 SCN1B p.Arg125Leu VAR_067341 rs759839781

Expression for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Search GEO for disease gene expression data for Generalized Epilepsy with Febrile Seizures Plus, Type 1.

Pathways for Generalized Epilepsy with Febrile Seizures Plus, Type 1

GO Terms for Generalized Epilepsy with Febrile Seizures Plus, Type 1

Cellular components related to Generalized Epilepsy with Febrile Seizures Plus, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.03 SCN7A SCN1B SCN1A PTPRZ1 PTPRB NFASC
2 plasma membrane GO:0005886 10.01 SCN7A SCN1B SCN1A PTPRZ1 PTPRB NFASC
3 integral component of plasma membrane GO:0005887 9.73 SCN1B PTPRZ1 PTPRB NFASC GABRG2 ATP4A
4 axon GO:0030424 9.55 SCN7A SCN1B SCN1A NFASC GABRG2
5 intercalated disc GO:0014704 9.48 SCN1B SCN1A
6 T-tubule GO:0030315 9.46 SCN1B SCN1A
7 axon initial segment GO:0043194 9.37 SCN1A NFASC
8 sodium channel complex GO:0034706 9.32 SCN1B SCN1A
9 voltage-gated sodium channel complex GO:0001518 9.13 SCN7A SCN1B SCN1A
10 node of Ranvier GO:0033268 8.8 SCN1B SCN1A NFASC

Biological processes related to Generalized Epilepsy with Febrile Seizures Plus, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.61 SCN7A SCN1B SCN1A
2 sodium ion transport GO:0006814 9.5 SCN7A SCN1B SCN1A
3 cation transmembrane transport GO:0098655 9.48 SCN7A SCN1A
4 neuronal action potential GO:0019228 9.46 SCN7A SCN1A
5 sodium ion transmembrane transport GO:0035725 9.43 SCN7A SCN1B SCN1A
6 membrane depolarization during action potential GO:0086010 9.4 SCN7A SCN1A
7 cardiac muscle cell action potential involved in contraction GO:0086002 9.37 SCN1B SCN1A
8 ion transport GO:0006811 9.35 SCN7A SCN1B SCN1A GABRG2 ATP4A
9 neuronal action potential propagation GO:0019227 9.16 SCN1B SCN1A
10 ion transmembrane transport GO:0034220 9.02 SCN7A SCN1B SCN1A GABRG2 ATP4A

Molecular functions related to Generalized Epilepsy with Febrile Seizures Plus, Type 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.5 SCN7A SCN1A GABRG2
2 voltage-gated ion channel activity GO:0005244 9.43 SCN7A SCN1B SCN1A
3 cation channel activity GO:0005261 9.37 SCN7A SCN1A
4 transmembrane receptor protein tyrosine phosphatase activity GO:0005001 9.16 PTPRZ1 PTPRB
5 sodium channel activity GO:0005272 9.13 SCN7A SCN1B SCN1A
6 voltage-gated sodium channel activity GO:0005248 8.8 SCN7A SCN1B SCN1A

Sources for Generalized Epilepsy with Febrile Seizures Plus, Type 1

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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