Aliases & Classifications for Monogenic Diabetes

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Aliases & Descriptions for Monogenic Diabetes:

Name: Monogenic Diabetes 45


Classifications:



Summaries for Monogenic Diabetes

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NIH Rare Diseases:45 The most common forms of diabetes, type 1 and type 2, are polygenic, meaning the risk of developing these forms of diabetes is related to multiple genes . environmental factors, such as obesity in the case of type 2 diabetes, also play a part in the development of polygenic forms of diabetes. polygenic forms of diabetes often run in families. doctors diagnose polygenic forms of diabetes by testing blood glucose in individuals with risk factors or symptoms of diabetes . some rare forms of diabetes result from mutations in a single gene and are called monogenic . monogenic forms of diabetes may account for about 1 to 5 percent of all cases of diabetes in young people . in some cases of monogenic diabetes, the gene mutation is inherited; but in others, the gene mutation develops spontaneously . most mutations in monogenic diabetes reduce the body's ability to produce insulin, a protein produced in the pancreas that is essential for the body to use glucose for energy . as a result, monogenic diabetes can easily be mistaken for type 1 diabetes . last updated: 9/23/2011

MalaCards based summary: Monogenic Diabetes is related to diabetes mellitus, transient neonatal 2 and diabetes mellitus, permanent neonatal. An important gene associated with Monogenic Diabetes is GCK (Glucokinase (Hexokinase 4)), and among its related pathways are Dichloroethylene metabolism and Integration of energy metabolism. Affiliated tissues include testes and pancreas, and related mouse phenotypes are no phenotypic analysis and liver/biliary system.

Related Diseases for Monogenic Diabetes

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Diseases related to Monogenic Diabetes via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 69)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus, transient neonatal 230.3ABCC8, KCNJ11
2diabetes mellitus, permanent neonatal30.3ABCC8, GCK, INS, KCNJ11, PDX1
3diabetes mellitus, transient neonatal, 130.1ABCC8, INS, KCNJ11
4diabetes mellitus, noninsulin-dependent29.0ABCC8, GCK, HNF1A, HNF1B, HNF4A, IAPP
5diabetes mellitus, insulin-dependent29.0ABCC8, GCK, HNF1A, HNF1B, HNF4A, IAPP
6diabetes mellitus, noninsulin-dependent 110.3
7mody, type i10.3
8gestational diabetes10.3
9neonatal diabetes mellitus10.3
10maturity-onset diabetes of the young, type vii10.2
11maturity-onset diabetes of the young 610.2
12mody, type ii10.2
13maturity-onset diabetes of the young, type ix10.2
14diabetes mellitus, ketosis-prone10.2
15maturity-onset diabetes of the young, type viii10.2
16diabetes mellitus, insulin-dependent, 210.2
17mody, type iii10.2
18mody, type iv10.2
19renal cysts and diabetes syndrome10.2
20maturity-onset diabetes of the young10.2
21hypoglycemia10.2
22hyperinsulinism10.2
23hyperglycemia10.2
24hypoglycemia of infancy, leucine-sensitive10.1ABCC8, KCNJ11
25aminolevulinate dehydratase deficiency porphyria10.1HNF1A, HNF4A
26hyperinsulinemic hypoglycemia, familial, 110.1ABCC8, KCNJ11
27preeclampsia/eclampsia 110.1
28microvascular complications of diabetes 110.1
29microvascular complications of diabetes 210.1
30diabetes mellitus, transient neonatal, 310.1
31diabetes mellitus, insulin-dependent, 410.1
32diabetes mellitus, insulin-dependent, 2010.1
33diabetes mellitus, noninsulin-dependent, 210.1
34diabetes mellitus, insulin-dependent, 310.1
35generalized anxiety disorder10.1
36mild pre-eclampsia10.1
37postpartum depression10.1
38anxiety disorder10.1
39capillary disease10.1
40glucose metabolism disease10.1
41hypopituitarism10.1
42nutritional deficiency disease10.1
43pancreatitis10.1
44placenta disease10.1
45pre-eclampsia10.1
46diabetes mellitus, 6q24-related transient neonatal10.1
47fasting hypoglycemia10.1
48fetal macrosomia10.1
49renal dysplasia10.1
50atypical autism10.1ABCC8, GCK, KCNJ11

Graphical network of the top 20 diseases related to Monogenic Diabetes:



Diseases related to monogenic diabetes

Symptoms for Monogenic Diabetes

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Drugs & Therapeutics for Monogenic Diabetes

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Drugs for Monogenic Diabetes (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LiraglutideapprovedPhase 2, Phase 3257204656-20-2
Synonyms:
204656-20-2
Arg34Lys26-(N-ε-(γ-Glu(N-α-hexadecanoyl)))-GLP-1[7-37]
C439759
Liraglutida
Liraglutida [INN-Spanish]
Liraglutide
Liraglutide [USAN:INN]
Liraglutidum
Liraglutidum [INN-Latin]
N26-(Hexadecanoyl-gamma-glutamyle)-(34-arginine)GLP-1-(7-37)-peptide
N26-(Hexadecanoyl-gamma-glutamyle)-(34-arginine)glucagon-like-peptide-1-(7-37)-peptide
 
NN 2211
NN-2211
NN2211
NNC 90-1170
N²⁶-(N-Hexadecanoyl-L-gamma-glutamyl)-[34-L-arginine]glucagon-like peptide 1-(7-37)-peptide
N²⁶-(hexadecanoyl-gamma-glutamyle)-[34-arginine]GLP-1-(7-37)-peptide
Saxenda
UNII-839I73S42A
Victoza
nn 2211
nn2211
victoza
2
GlimepirideapprovedPhase 2, Phase 321493479-97-13476
Synonyms:
1-((p-(2-(3-Ethyl-4-methyl-2-oxo-3-pyrroline-1-carboxamido)ethyl)phenyl)sulfonyl)-3-(trans-4-methylcyclohexyl)urea
1-{[4-(2-{[(3-ethyl-4-methyl-2-oxo-2,5-dihydro-1H-pyrrol-1-yl)carbonyl]amino}ethyl)phenyl]sulfonyl}-3-(trans-4-methylcyclohexyl)urea
3-ethyl-4-methyl-N-[2-(4-{[(trans-4-methylcyclohexyl)carbamoyl]sulfamoyl}phenyl)ethyl]-2-oxo-2,5-dihydro-1H-pyrrole-1-carboxamide
3-ethyl-4-methyl-n-(4-(n-((1r,4r)-4-methylcyclohexylcarbamoyl)sulfamoyl)phenethyl)-2-oxo-2,5-dihydro
4-ethyl-3-methyl-N-[2-[4-[(4-methylcyclohexyl)carbamoylsulfamoyl]phenyl]ethyl]-5-oxo-2H-pyrrole-1-carboxamide
64598P
93479-97-1
AB00513874
AC-476
AC1L1G0T
Amarel
Amaryl
Amaryl (TN)
Amaryl, Glista OD, Glimepiride
Avaglim
BPBio1_000751
BRD-K34776109-001-03-4
BRD-K42693031-001-01-8
BRN 5365754
BSPBio_000681
Bio-0049
C07669
C24H34N4O5S
CAS-93479-97-1
CCRIS 7083
CHEBI:5383
CHEMBL1481
CID3476
CPD000466368
D00593
DB00222
Endial
G2295_SIGMA
Glimepirid
Glimepirida
Glimepirida [Spanish]
Glimepiride
Glimepiride (JAN/USP/INN)
Glimepiride [USAN:BAN:INN]
Glimepiridum
 
Glimepiridum [Latin]
Glimepride
Glimer
Glimépiride
Glymepirid
HMS1570C03
HMS2052L03
HMS2090K18
HOE 490
Hoe-490
I06-0029
I06-2285
LS-136752
MLS000759495
MLS001076674
MLS001401419
MolPort-003-847-587
MolPort-003-987-461
MolPort-005-941-721
NCGC00016960-01
NCGC00161404-01
NCGC00161404-02
NCGC00181757-01
Novo-glimepiride
Oprea1_382896
PMS-glimepiride
Prestwick0_000651
Prestwick1_000651
Prestwick2_000651
Prestwick3_000651
Ratio-glimepiride
Roname
S1344_Selleck
SAM001246710
SMR000466368
SPBio_002602
Sandoz glimepiride
Solosa
TL8005924
UNII-6KY687524K
ZINC00537791
glimepiride
3Glucagon-Like Peptide 1Phase 2, Phase 3, Phase 1652
4Insulin, Globin ZincPhase 14069
5insulinPhase 14069
6
Insulin, isophaneapproved22853027-39-7
Synonyms:
Humulin N
 
Isophane Insulin
NPH Insulin
Novolin N
7
Insulin Lisproapproved203133107-64-9
Synonyms:
Humalog
Humalog Cartridge
Humalog KwikPen
Humalog Mix50/50
 
Humalog Mix50/50 KwikPen
Humalog Mix75/25
Humalog Mix75/25 KwikPen
Humalog Pen
Insulin Lispro Recombinant
8
Zincapproved14047440-66-623994, 32051
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
9
Insulin Aspartapproved412116094-23-616132418
Synonyms:
(AspB28)-human insulin
1024611-56-0
116094-23-6
139532-40-4
28(sup B)-L-Aspartic acid-insulin (human)
877034-90-7
AspB28-insulin (human)
Aspart
Aspart Insulin
Aspart insulin
B28-Asp-insulin
B28-Aspart-Insulin
INA-X 14
 
INA-X14
Insulin X14
Insulin aspart
Insulin aspart [USAN]
Insulin, Asp(B28)
LS-185932
NovoLog
NovoMix 30
NovoRapid
NovoRapid 30 Mix
Novolog
Novolog Mix 70/30
Novolog mix 70/30
UNII-D933668QVX
10Isophane insulin, beef139
11Glargine479
12arginineNutraceutical346

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Effects of GLP-1 in Maturity-Onset Diabetes of The Young (MODY)CompletedNCT01610934Phase 2, Phase 3
2Incretin Regulation of Insulin Secretion in Monogenic DiabetesRecruitingNCT01795144Phase 1
3Predisposition Genes in Monogenic Diabetes (DIAMONO)CompletedNCT02634229
4Using Pharmacogenetics to Improve Treatment in Early-onset DiabetesCompletedNCT01238380
5Adipocyte, Insulin-resistance and Immunity : Evaluation of Interleukin-7 in Lipodystrophy, Diabetes and ObesityCompletedNCT01784289
6Identification and Characterization of Monogenic DiabetesRecruitingNCT01481623
7The Verona Newly Diagnosed Type 2 Diabetes StudyRecruitingNCT01526720
8GENetic & Immunologic Abnomalies in Systemic Lupus ErythematosusRecruitingNCT01992666
9Impact on Birth Weight of Two Therapeutic Strategies (Insulin Therapy From the Beginning of Pregnancy vs. Insulin Therapy Initiated According to Fetal Growth Evaluated by Ultrasonography Measurements) in Pregnant Women With Monogenic DiabetesNot yet recruitingNCT02556840

Search NIH Clinical Center for Monogenic Diabetes

Genetic Tests for Monogenic Diabetes

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Anatomical Context for Monogenic Diabetes

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MalaCards organs/tissues related to Monogenic Diabetes:

33
Testes, Pancreas

Animal Models for Monogenic Diabetes or affiliated genes

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MGI Mouse Phenotypes related to Monogenic Diabetes:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00030128.3ABCC8, HNF1A, INS, KCNJ11, MAFA, PDX1
2MP:00053708.2CEL, GCK, HNF1A, HNF1B, HNF4A, INS
3MP:00053678.1GCK, HNF1A, HNF1B, INS, MAFA, PDX1
4MP:00053796.8ABCC8, GCK, HNF1A, HNF1B, INS, KCNJ11
5MP:00053786.2CEL, GCK, HNF1A, HNF1B, HNF4A, IAPP
6MP:00053765.2ABCC8, CEL, GCK, HNF1A, HNF1B, HNF4A

Publications for Monogenic Diabetes

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Articles related to Monogenic Diabetes:

(show top 50)    (show all 71)
idTitleAuthorsYear
1
GCK monogenic diabetes and gestational diabetes: possible diagnosis on clinical grounds. (26043405)
2015
2
An online monogenic diabetes discussion group: supporting families and fueling new research. (26184072)
2015
3
Monogenic diabetes: the treatment options. (25773279)
2015
4
Personalized Medicine: Monogenic Diabetes. (26390534)
2015
5
Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Cohort: New Pregnancy Screening Criteria and Utility of HbA1c. (26109503)
2015
6
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism. (25555642)
2015
7
The 0.1% of the population with glucokinase monogenic diabetes can be recognized by clinical characteristics in pregnancy: the Atlantic Diabetes in Pregnancy cohort. (24550216)
2014
8
Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. (25136813)
2014
9
Functional characterization of two novel splicing mutations in glucokinase gene in monogenic diabetes MODY2]. (25850297)
2014
10
Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. (25306193)
2014
11
Insights from monogenic diabetes and glycemic treatment goals for common types of diabetes. (24430318)
2014
12
Many faces of monogenic diabetes. (24843749)
2014
13
The diagnosis and management of monogenic diabetes in children and adolescents. (25182307)
2014
14
Monogenic diabetes: old and new approaches to diagnosis. (23760703)
2013
15
Positivity for islet cell autoantibodies in patients with monogenic diabetes is associated with later diabetes onset and higher HbA1c level. (24102923)
2013
16
Family history in the diagnosis of monogenic diabetes "leads and misleads". (24121389)
2013
17
Monogenic diabetes: a diagnostic algorithm for clinicians. (24705260)
2013
18
Prevalence of monogenic diabetes in the population-based Norwegian Childhood Diabetes Registry. (23624530)
2013
19
Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort. (22035297)
2012
20
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. (22498247)
2012
21
The role of pancreatic imaging in monogenic diabetes mellitus. (22124438)
2012
22
Monogenic diabetes in a family with 2 unknown HNF-4A gene mutations. (21922456)
2012
23
Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation. (21051477)
2011
24
Review on monogenic diabetes. (21844708)
2011
25
Macrosomia, transient neonatal hypoglycemia, and monogenic diabetes in a family with heterozygous mutation R154X of HNF4A gene. (21537110)
2011
26
Paternally inherited proinsulin mutations may result in earlier onset of monogenic diabetes mutation identity effect in monogenic diabetes. (21193618)
2011
27
Creation of the Web-based University of Chicago Monogenic Diabetes Registry: using technology to facilitate longitudinal study of rare subtypes of diabetes. (21880229)
2011
28
Genetics in the real world: resources for pediatric nurses using monogenic diabetes as an exemplar. (21930042)
2011
29
Prevalence of monogenic diabetes in young adults: a community-based, cross-sectional study in Oxfordshire, UK. (21350841)
2011
30
Disease allele-dependent small-molecule sensitivities in blood cells from monogenic diabetes. (21183721)
2011
31
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. (19760265)
2010
32
Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. (20065546)
2010
33
Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY). (19903754)
2010
34
Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro. (20546279)
2010
35
Type 2 diabetes, medication-induced diabetes, and monogenic diabetes in Canadian children: a prospective national surveillance study. (20067956)
2010
36
Increased all-cause and cardiovascular mortality in monogenic diabetes as a result of mutations in the HNF1A gene. (20546258)
2010
37
If It's Not Type 1 or Type 2 Diabetes, It May be Monogenic Diabetes. (22478834)
2010
38
Functional targets of the monogenic diabetes transcription factors HNF-1alpha and HNF-4alpha are highly conserved between mice and humans. (19188435)
2009
39
Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes. (19900242)
2009
40
An infant with combination gene mutations for Monogenic Diabetes of Youth (MODY) 2 and 4, presenting with Diabetes Mellitus Requiring Insulin (DMRI) at 8 months of age. (19515026)
2009
41
Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene. (19566570)
2009
42
The diagnosis and management of monogenic diabetes in children and adolescents. (19754616)
2009
43
RNA processing and mRNA surveillance in monogenic diabetes. (19787084)
2008
44
Monogenic diabetes: implications for therapy of rare types of disease. (17488343)
2008
45
Our evolving understanding of monogenic diabetes: possibilities of improving glycaemic control following transfer from insulin to sulphonylureas. (18684428)
2008
46
Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes. (18436708)
2008
47
The rare syndromic forms of monogenic diabetes in childhood]. (18577346)
2008
48
ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. (17212604)
2006
49
Defining the genetic aetiology of monogenic diabetes can improve treatment. (16925503)
2006
50
Intrauterine hyperglycemia modifying the development of (monogenic) diabetes? (12663611)
2003

Variations for Monogenic Diabetes

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Expression for genes affiliated with Monogenic Diabetes

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Search GEO for disease gene expression data for Monogenic Diabetes.

Pathways for genes affiliated with Monogenic Diabetes

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Pathways related to Monogenic Diabetes according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9HNF1A, HNF4A
2
Show member pathways
9.5ABCC8, INS, KCNJ11
39.3HNF1A, HNF4A, INS, PDX1
4
Show member pathways
8.9ABCC8, GCK, INS, KCNJ11, PDX1
5
Show member pathways
8.5GCK, HNF1A, HNF1B, HNF4A, INS, PDX1
68.3ABCC8, GCK, HNF1A, HNF4A, INS, KCNJ11
7
Show member pathways
7.1GCK, HNF1A, HNF1B, HNF4A, IAPP, INS
8
Show member pathways
7.1GCK, HNF1A, HNF1B, HNF4A, IAPP, INS
9
Show member pathways
7.0ABCC8, GCK, HNF1A, HNF1B, HNF4A, INS

GO Terms for genes affiliated with Monogenic Diabetes

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Biological processes related to Monogenic Diabetes according to GeneCards Suite gene sharing:

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of glycogen biosynthetic processGO:004572510.6GCK, INS
2detection of glucoseGO:005159410.6GCK, PDX1
3negative regulation of gluconeogenesisGO:004572110.5GCK, INS
4regulation of pronephros sizeGO:003556510.4HNF1A, HNF1B
5negative regulation of insulin secretionGO:004667610.4ABCC8, KCNJ11
6glycolytic processGO:000609610.4ADPGK, GCK
7positive regulation of transcription initiation from RNA polymerase II promoterGO:006026110.3HNF1A, HNF1B
8regulation of Wnt signaling pathwayGO:003011110.1HNF1A, HNF1B
9energy reserve metabolic processGO:000611210.0ABCC8, INS, KCNJ11
10liver developmentGO:00018899.8HNF1A, HNF1B, PDX1
11nitric oxide mediated signal transductionGO:00072639.7MAFA, PDX1
12glucose homeostasisGO:00425939.3GCK, HNF1A, HNF4A, INS, PDX1
13regulation of insulin secretionGO:00507969.2ABCC8, GCK, HNF1A, HNF4A, INS, KCNJ11
14glucose metabolic processGO:00060069.1ADPGK, GCK, INS, KCNJ11, PDX1
15insulin secretionGO:00300739.0HNF1A, HNF1B, MAFA, PDX1
16response to drugGO:00424938.9ABCC8, HNF1B, KCNJ11, PDX1
17response to glucoseGO:00097498.8HNF1A, HNF1B, HNF4A, MAFA, PDX1
18regulation of transcription from RNA polymerase II promoterGO:00063578.7HNF1A, HNF4A, MAFA, PDX1
19positive regulation of transcription, DNA-templatedGO:00458938.6HNF1A, HNF1B, HNF4A, MAFA, PDX1
20endocrine pancreas developmentGO:00310188.5GCK, HNF1A, HNF1B, HNF4A, IAPP, INS
21positive regulation of transcription from RNA polymerase II promoterGO:00459448.2HNF1A, HNF1B, HNF4A, MAFA, PDX1
22transcription from RNA polymerase II promoterGO:00063667.9HNF1A, HNF1B, HNF4A, MAFA, PDX1
23small molecule metabolic processGO:00442817.9ABCC8, ADPGK, CEL, GCK, INS, KCNJ11

Molecular functions related to Monogenic Diabetes according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1phosphotransferase activity, alcohol group as acceptorGO:001677310.3ADPGK, GCK
2transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.8HNF1B, HNF4A, PDX1
3transcription regulatory region DNA bindingGO:00442129.7HNF1A, HNF1B, HNF4A
4transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.5HNF1A, HNF4A, MAFA
5transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.1HNF1A, HNF4A, MAFA
6protein heterodimerization activityGO:00469828.5HNF1A, HNF1B, MAFA, PDX1
7transcription factor activity, sequence-specific DNA bindingGO:00037008.1HNF1A, HNF1B, HNF4A, MAFA, PDX1
8sequence-specific DNA bindingGO:00435657.9HNF1A, HNF1B, HNF4A, MAFA, PDX1

Sources for Monogenic Diabetes

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet