MCID: ATS011
MIFTS: 38

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Blood diseases

Aliases & Classifications for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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Aliases & Descriptions for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

Name: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy 11 23 48 25 68
Adnfle 23 48 24 25
Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant 24 27
Epilepsy, Nocturnal Frontal Lobe, Type 1 68
 
Epilepsy, Nocturnal Frontal Lobe, 1 48
Enfl1 48
Enfl 11

Characteristics:

GeneReviews:

23
Penetrance: penetrance is estimated at 70%. kcnt1-related adnfle demonstrates complete penetrance compared to 60-80% in nachr-related adnfle...


Classifications:



External Ids:

Disease Ontology11 DOID:0060681

Summaries for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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NIH Rare Diseases:48 Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon, inherited form of epilepsy. Signs and symptoms include seizures that usually occur at night during sleep. The seizures that occur in people with ADNFLE can last from a few seconds to a few minutes, and can vary from causing simple arousal from sleep to severe, dramatic muscle spasm events. Some people with ADNFLE also have seizures during the day. Some episodes may be misdiagnosed as nightmares, night terrors, or panic attacks. The onset of ADNFLE ranges from infancy to adulthood, but most cases begin in childhood. Episodes tend to become milder and less frequent with age. ADNFLE is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes. In many cases, the genetic cause remains unknown. Seizures can usually be controlled with antiseizure medications. Last updated: 7/22/2015

MalaCards based summary: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy, also known as adnfle, is related to autosomal dominant nocturnal frontal lobe epilepsy 2 and kcnt1-related nocturnal frontal lobe epilepsy, autosomal dominant, and has symptoms including seizures An important gene associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy is CHRNA4 (Cholinergic Receptor Nicotinic Alpha 4 Subunit), and among its related pathways are Nicotine addiction and SIDS Susceptibility Pathways. Affiliated tissues include brain, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and nervous system.

Disease Ontology:11 A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations.

Genetics Home Reference:25 Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an uncommon form of epilepsy that runs in families. This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. Some people with ADNFLE also have seizures during the day.

Wikipedia:71 Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is an epileptic disorder that causes... more...

GeneReviews for NBK1169

Related Diseases for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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Diseases related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 29)
idRelated DiseaseScoreTop Affiliating Genes
1autosomal dominant nocturnal frontal lobe epilepsy 212.5
2kcnt1-related nocturnal frontal lobe epilepsy, autosomal dominant12.3
3epilepsy, nocturnal frontal lobe, 112.1
4epilepsy, nocturnal frontal lobe, 311.9
5epilepsy, nocturnal frontal lobe, type 411.9
6epilepsy, nocturnal frontal lobe, 511.9
7chrna2-related nocturnal frontal lobe epilepsy, autosomal dominant11.3
8chrna4-related nocturnal frontal lobe epilepsy, autosomal dominant11.3
9chrnb2-related nocturnal frontal lobe epilepsy, autosomal dominant11.3
10epilepsy11.0
11neuronitis10.5
12autoimmune disease of central nervous system10.2CHRNA4, CRH
13schizophrenia10.1
14pervasive developmental disorder10.1
15intellectual disability10.1
16dyserythropoietic anemia, congenital, type iii10.0CHRFAM7A, CHRNA7
17juvenile absence epilepsy10.0CHRNA2, KCNT1
18tinea pedis9.9CHRFAM7A, CHRNA7
19granulomatous dermatitis9.9CHRNA4, CHRNB1
20vernal conjunctivitis9.8CHRFAM7A, CHRNA4, CHRNA7
21edict syndrome9.8CHRNA3, CHRNA5
22granulomatous hepatitis9.7CHRNA2, CHRNA4, CHRNB2, DEPDC5, KCNT1
23craniosynostosis, adelaide type9.7CHRFAM7A, CHRNA4, CHRNA7
24urethral stricture9.7CHRNA2, CHRNA4, CHRNB2, DEPDC5, KCNT1
25ethmoid sinusitis9.3CHRNA3, CHRNA5, CHRNB3
26hallucinogen dependence9.2CHRNA3, CHRNA5, CHRNB3
27parkinsonism-dystonia, infantile8.0CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
28histrionic personality disorder7.9CHRFAM7A, CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6
29autosomal dominant partial epilepsy with auditory features6.2CHRFAM7A, CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6

Graphical network of the top 20 diseases related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:



Diseases related to autosomal dominant nocturnal frontal lobe epilepsy

Symptoms & Phenotypes for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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UMLS symptoms related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:


seizures

GenomeRNAi Phenotypes related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-359.9CHRFAM7A, CHRNA4, CHRNB1

MGI Mouse Phenotypes related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036316.8CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7

Drugs & Therapeutics for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Genetic Tests for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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Genetic tests related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

id Genetic test Affiliating Genes
1 Autosomal Dominant Nocturnal Frontal Lobe Epilepsy27
2 Nocturnal Frontal Lobe Epilepsy, Autosomal Dominant24 CRH

Anatomical Context for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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MalaCards organs/tissues related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

36
Brain

Publications for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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Articles related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

(show top 50)    (show all 71)
idTitleAuthorsYear
1
Mutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensitivity I+4I^2, and Increases I+5I+4I^2, Nicotinic Receptor Surface Expression. (27336596)
2016
2
Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy. (26309560)
2015
3
The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy. (25717303)
2015
4
DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. (24814846)
2014
5
Multi-electrode array study of neuronal cultures expressing nicotinic I^2-V287L subunits, linked to autosomal dominant nocturnal frontal lobe epilepsy. An in vitro model of spontaneous epilepsy. (25104926)
2014
6
A transcript coding for a partially duplicated form of I+7 nicotinic acetylcholine receptor is absent from the CD4+ T-lymphocytes of patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). (23553139)
2013
7
Clinical features and mutation analysis of CHRNA4 gene for families and sporadic cases affected with autosomal dominant nocturnal frontal lobe epilepsy]. (24327142)
2013
8
Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy. (22883468)
2013
9
A novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). (24045013)
2013
10
Hippocampal sclerosis worsens autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) phenotype related to CHRNB2 mutation. (22897520)
2013
11
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. (23086396)
2012
12
A case of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) coexisting with pervasive developmental disorder harboring SCN1A mutation in addition to CHRNB2 mutation. (23032131)
2012
13
Mutational analysis of CHRNB2 and CHRNA2 genes in southern Chinese population with autosomal dominant nocturnal frontal lobe epilepsy]. (21287502)
2011
14
Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the I^2 nicotinic receptor. (20603624)
2011
15
Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation. (21753767)
2011
16
Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy. (20189461)
2010
17
Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy. (19237585)
2009
18
Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. (18534914)
2008
19
The multifaceted role of inhibition in epilepsy: seizure-genesis through excessive GABAergic inhibition in autosomal dominant nocturnal frontal lobe epilepsy. (18317273)
2008
20
Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene. (17900292)
2008
21
Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. (18479385)
2008
22
Reduced striatal D1 receptor binding in autosomal dominant nocturnal frontal lobe epilepsy. (18685138)
2008
23
K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy. (18762450)
2008
24
Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy. (17324557)
2007
25
Is too much inhibition to blame in autosomal dominant nocturnal frontal lobe epilepsy? (17694173)
2007
26
A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely. (17602836)
2007
27
Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation. (17881519)
2007
28
Tobacco habits modulate autosomal dominant nocturnal frontal lobe epilepsy. (16931165)
2006
29
Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy. (17146052)
2006
30
Mutations linked to autosomal dominant nocturnal frontal lobe epilepsy affect allosteric Ca2+ activation of the alpha 4 beta 2 nicotinic acetylcholine receptor. (15901849)
2005
31
Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)". (15843070)
2005
32
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy. (15245761)
2004
33
Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview. (15316796)
2004
34
Genetic basis of autosomal dominant nocturnal frontal lobe epilepsy. (12773798)
2003
35
Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations. (12782965)
2003
36
Calcium and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE). (15346160)
2003
37
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. (12681012)
2003
38
Acetazolamide and autosomal dominant nocturnal frontal lobe epilepsy. (12823586)
2003
39
A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. (14623738)
2003
40
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. (12887446)
2003
41
Molecular modelling of the interactions of carbamazepine and a nicotinic receptor involved in the autosomal dominant nocturnal frontal lobe epilepsy. (12110613)
2002
42
Autosomal dominant nocturnal frontal lobe epilepsy. (11968471)
2002
43
Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy. (11952766)
2002
44
Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families. (12195439)
2002
45
Neuronal nicotinic acetylcholine receptors and autosomal dominant nocturnal frontal lobe epilepsy: a critical review. (11512019)
2001
46
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. (11104662)
2001
47
Autosomal dominant nocturnal frontal lobe epilepsy. (10961640)
2000
48
A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. (11094099)
2000
49
Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family. (10643924)
2000
50
The macrostructure and microstructure of sleep in patients with autosomal dominant nocturnal frontal lobe epilepsy. (10709813)
2000

Variations for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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Clinvar genetic disease variations for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CHRNA4NM_000744.6(CHRNA4): c.851C> T (p.Ser284Leu)SNVPathogenicrs28931591GRCh37Chr 20, 61981912: 61981912
2CRHNM_000756.3(CRH): c.89C> G (p.Pro30Arg)SNVPathogenicrs748404250GRCh37Chr 8, 67089624: 67089624

Copy number variations for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
120072115300000153300000Copy numberCHRNB2Autosomal dominant nocturnal frontal lobe epilepsy
2155269205440000062435964Copy numberCHRNA4Autosomal dominant nocturnal frontal lobe epilepsy

Expression for genes affiliated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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Search GEO for disease gene expression data for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy.

Pathways for genes affiliated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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Pathways related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.2CHRNA4, CHRNA6, CHRNA7, CHRNB2
29.0CHRFAM7A, CHRNA4, CHRNA7, CHRNB2
3
Show member pathways
8.3CHRNA3, CHRNA4, CHRNA6, CHRNA7, CHRNB2
4
Show member pathways
8.3CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNB2
5
Show member pathways
7.9CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
6
Show member pathways
7.0CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
7
Show member pathways
6.4CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
8
Show member pathways
6.2CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7

GO Terms for genes affiliated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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Cellular components related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:000989710.3CHRNA4, CHRNA7, CHRNB2
2neuronal cell bodyGO:00430259.5CHRNA3, CHRNA4, CHRNA5, CRH
3acetylcholine-gated channel complexGO:00058927.2CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
4cell junctionGO:00300547.2CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
5plasma membraneGO:00058867.0CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
6postsynaptic membraneGO:00452116.4CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7

Biological processes related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy according to GeneCards Suite gene sharing:

(show all 26)
idNameGO IDScoreTop Affiliating Genes
1action potentialGO:000150810.7CHRNA4, CHRNB2
2response to cocaineGO:004222010.7CHRNB2, CRH
3regulation of synaptic transmission, dopaminergicGO:003222510.5CHRNA7, CHRNB2
4membrane depolarizationGO:005189910.3CHRNA4, CHRNA6, CHRNB2
5regulation of dopamine secretionGO:001405910.3CHRNA4, CHRNA6, CHRNB2
6B cell activationGO:004211310.3CHRNA4, CHRNA7, CHRNB2
7calcium ion transportGO:000681610.3CHRNA4, CHRNA7, CHRNB2
8cognitionGO:005089010.3CHRNA4, CHRNA7, CHRNB2
9associative learningGO:000830610.3CHRNA7, CHRNB2, CRH
10response to hypoxiaGO:000166610.3CHRNA4, CHRNA7, CHRNB2
11response to ethanolGO:004547110.3CHRNA7, CHRNB2, CRH
12neurological system processGO:005087710.2CHRNA4, CHRNB1, CHRNB2
13regulation of dendrite morphogenesisGO:004881410.1CHRNA3, CHRNB2
14chemical synaptic transmissionGO:00072689.9CHRNA4, CHRNA5, CHRNA6, CRH
15locomotory behaviorGO:00076269.9CHRNA3, CHRNA4, CHRNB2
16synaptic transmission involved in micturitionGO:00600849.8CHRNA3, CHRNB2
17protein heterooligomerizationGO:00512919.2CHRNA2, CHRNA3, CHRNB2, CHRNB3
18ion transportGO:00068119.2CHRNA2, CHRNA3, CHRNA4, CHRNA7, CHRNB2
19regulation of membrane potentialGO:00423918.9CHRNA3, CHRNA4, CHRNA7, CHRNB1, CHRNB2
20response to nicotineGO:00350948.5CHRNA2, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNB2
21behavioral response to nicotineGO:00350958.5CHRNA3, CHRNA4, CHRNA5, CHRNA7, CHRNB1, CHRNB2
22neuromuscular synaptic transmissionGO:00072748.4CHRNA2, CHRNA4, CHRNA5, CHRNA6, CHRNB1, CHRNB2
23chemical synaptic transmission, postsynapticGO:00995658.3CHRNA2, CHRNA5, CHRNA6, CHRNA7, CHRNB1, CHRNB2
24cation transmembrane transportGO:00986557.2CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
25signal transductionGO:00071656.6CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
26synaptic transmission, cholinergicGO:00072716.4CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7

Molecular functions related to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1channel activityGO:00152679.9CHRNB1, CHRNB3
2drug bindingGO:00081448.9CHRNA2, CHRNA3, CHRNB2, CHRNB3
3acetylcholine bindingGO:00421667.0CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
4acetylcholine receptor activityGO:00154647.0CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
5acetylcholine-activated cation-selective channel activityGO:00048897.0CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7
6ligand-gated ion channel activityGO:00152766.4CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7

Sources for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet