Aliases & Classifications for Monogenic Diabetes

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Aliases & Descriptions for Monogenic Diabetes:

Name: Monogenic Diabetes 46

Summaries for Monogenic Diabetes

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NIH Rare Diseases:46 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, permanent neonatal and maturity-onset diabetes of the young, type 13. An important gene associated with Monogenic Diabetes is HNF4A (Hepatocyte Nuclear Factor 4 Alpha), and among its related pathways are Dichloroethylene metabolism and Disorders of transmembrane transporters. Affiliated tissues include testes, pancreas and adipocyte, and related mouse phenotypes are adipose tissue 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 all 42)
idRelated DiseaseScoreTop Affiliating Genes
1diabetes mellitus, permanent neonatal11.4
2maturity-onset diabetes of the young, type 1310.3ABCC8, KCNJ11
3usher syndrome, type 1c10.3ABCC8, KCNJ11
4amniotic band syndrome10.3HNF1A, HNF4A
5biliary cirrhosis, primary, 510.3HNF1B, HNF4A
6hemimegalencephaly10.3ABCC8, KCNJ11
7retinitis pigmentosa 6810.2ABCC8, INS
8writing disorder10.2ABCC8, GCK, KCNJ11
9diabetes mellitus, transient neonatal, 310.1ABCC8, INS, KCNJ11
10perlman syndrome10.1ABCC8, GCK, KCNJ11
11acute insulin response10.1ABCC8, INS, KCNJ11
12nephronophthisis 1910.1ABCC8, INS, KCNJ11
13neonatal diabetes mellitus10.1GCK, INS, KCNJ11
14laryngeal carcinoma10.1ABCC8, INS, KCNJ11
15gestational diabetes10.0
16maturity-onset diabetes of the young10.0
17labyrinthine bilateral reactive loss10.0GCK, INS
18kartagener syndrome9.9IAPP, INS
1918p deletion syndrome9.9ABCC8, GCK, KCNJ11
20toxic megacolon9.9ABCC8, GCK, INS, KCNJ11
21patellofemoral pain syndrome9.9ABCC8, GCK, INS, KCNJ11
22short bowel syndrome9.9ABCC8, GCK, INS, KCNJ11
23obesity9.8
24hyperinsulinism9.8
25hyperglycemia9.8
26pancreatitis9.8
27hypopituitarism9.8
28hypoglycemia9.8
29renal dysplasia9.8
30intraocular lymphoma9.7ABCC8, GCK, IAPP, INS
31anatomical narrow angle borderline glaucoma9.7ABCC8, GCK, HNF4A, INS, KCNJ11
32gestational choriocarcinoma9.7ABCC8, GCK, HNF4A, INS, KCNJ11
33diaphanospondylodysostosis9.6ABCC8, GCK, INS, KCNJ11, PDX1
34inclusion body myopathy with paget disease of bone and frontotemporal dementia9.6ABCC8, GCK, INS, KCNJ11, PDX1
35hyperlipoproteinemia type iv9.6ABCC8, GCK, INS, KCNJ11, PDX1
36femoral neuropathy9.4ABCC8, GCK, IAPP, INS, KCNJ11
37survival motor neuron spinal muscular atrophy9.4ABCC8, GCK, IAPP, INS, KCNJ11
38hypertrichosis9.2ABCC8, GCK, HNF1A, IAPP, INS, KCNJ11
39diabetes mellitus, noninsulin-dependent8.2ABCC8, GCK, HNF1A, HNF1B, HNF4A, IAPP
40adult spinal muscular atrophy7.6ABCC8, CEL, GCK, HNF1A, HNF1B, HNF4A
41hepatic adenoma, somatic7.4ABCC8, GCK, HNF1A, HNF1B, HNF4A, IAPP
42proximal chromosome 18q deletion syndrome5.9ABCC8, ADPGK, CEL, GCK, HNF1A, HNF1B

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 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
GlimepiridePhase 2, Phase 322293479-97-13476
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 (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
2
LiraglutidePhase 2, Phase 3293204656-20-2
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]
Liraglutide recombinant
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
UNII-839I73S42A
Victoza
nn 2211
nn2211
victoza
3insulinPhase 14401
4glucagonPhase 1441
5
Zinc21547440-66-632051, 23994
Synonyms:
30Zn
Cinc
Zinc
Zinc ion
 
Zincum
Zink
Zn
Zn(ii)
Zn2+
6
Insulin-detemir192169148-63-45311023
Synonyms:
Insulin detemir
Insulin detemir recombinant
Levemir
 
Levemir flexpen
Levemir innolet
Levemir penfill
NN-304
7
Insulin Glargine509160337-95-1
Synonyms:
 
Insulin Glargine (rDNA origin)
Insulin glargine recombinant
8
Insulin-aspart437116094-23-616132418
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 aspart protamine recombinant
Insulin aspart recombinant
Insulin, Asp(B28)
LS-185932
NovoLog
NovoMix 30
NovoRapid
NovoRapid 30 Mix
Novolog mix 70/30
UNII-D933668QVX
9
Insulin Lispro231133107-64-9
Synonyms:
 
Insulin Lispro Recombinant
Insulin lispro protamine recombinant
10arginineNutraceutical393

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
6Impact 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 DiabetesRecruitingNCT02556840
7Identification and Characterization of Monogenic DiabetesRecruitingNCT01481623
8The Verona Newly Diagnosed Type 2 Diabetes StudyRecruitingNCT01526720
9Wolfram Syndrome International Registry and Clinical StudyRecruitingNCT02841553
10GENetic & Immunologic Abnomalies in Systemic Lupus ErythematosusRecruitingNCT01992666

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:

34
Testes, Pancreas, Adipocyte

Animal Models for Monogenic Diabetes or affiliated genes

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MGI Mouse Phenotypes related to Monogenic Diabetes:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.6ADPGK, CEL, HNF1A, INS, KCNJ11
2MP:00053708.5CEL, GCK, HNF1A, HNF1B, HNF4A, INS
3MP:00030128.3ABCC8, HNF1A, INS, KCNJ11, MAFA, PDX1
4MP:00053678.0GCK, HNF1A, HNF1B, INS, MAFA, PDX1
5MP:00053796.7ABCC8, GCK, HNF1A, HNF1B, INS, KCNJ11
6MP:00053785.6ADPGK, CEL, GCK, HNF1A, HNF1B, HNF4A
7MP:00053765.0ABCC8, ADPGK, CEL, GCK, HNF1A, HNF1B

Publications for Monogenic Diabetes

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Articles related to Monogenic Diabetes:

(show top 50)    (show all 85)
idTitleAuthorsYear
1
A preliminary study to evaluate the strategy of combining clinical criteria and next generation sequencing (NGS) for the identification of monogenic diabetes among multi-ethnic Asians. (27420379)
2016
2
Monogenic Diabetes: Not Your "Typical" Diabetes. (27491106)
2016
3
Comment on Rudland et al. Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Mellitus Cohort: New Pregnancy Screening Criteria and Utility of HbA1c. Diabetes Care 2016;39:50-52. (26696667)
2016
4
GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated. (27106716)
2016
5
Monogenic diabetes: Implementation of translational genomic research towards precision medicine. (27390143)
2016
6
Diagnosis of monogenic diabetes: 10-Year experience in a large multi-ethnic diabetes center. (27330718)
2016
7
Practical Aspects of Monogenic Diabetes: A Clinical Point of View. (26897468)
2016
8
Monogenic Diabetes: What It Teaches Us on the Common Forms of Type 1 and Type 2 Diabetes. (27035557)
2016
9
Structure - Function studies of HNF1A (MODY3) gene mutations in South Indian patients with monogenic diabetes. (26853433)
2016
10
Monogenic diabetes and pregnancy. (27512465)
2015
11
Personalized Medicine: Monogenic Diabetes. (26390534)
2015
12
Identifying Glucokinase Monogenic Diabetes in a Multiethnic Gestational Diabetes Cohort: New Pregnancy Screening Criteria and Utility of HbA1c. (26109503)
2015
13
Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism. (25555642)
2015
14
GCK monogenic diabetes and gestational diabetes: possible diagnosis on clinical grounds. (26043405)
2015
15
What Is the Best NGS Enrichment Method for the Molecular Diagnosis of Monogenic Diabetes and Obesity? (26599467)
2015
16
An online monogenic diabetes discussion group: supporting families and fueling new research. (26184072)
2015
17
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
18
Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. (25306193)
2014
19
Many faces of monogenic diabetes. (24843749)
2014
20
Identifying monogenic diabetes in a pediatric cohort with presumed type 1 diabetes. (25082184)
2014
21
Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes. (25136813)
2014
22
Functional characterization of two novel splicing mutations in glucokinase gene in monogenic diabetes MODY2]. (25850297)
2014
23
Monogenic diabetes: old and new approaches to diagnosis. (23760703)
2013
24
Positivity for islet cell autoantibodies in patients with monogenic diabetes is associated with later diabetes onset and higher HbA1c level. (24102923)
2013
25
Family history in the diagnosis of monogenic diabetes "leads and misleads". (24121389)
2013
26
Improved genetic testing for monogenic diabetes using targeted next-generation sequencing. (23771172)
2013
27
Monogenic diabetes: a diagnostic algorithm for clinicians. (24705260)
2013
28
The role of pancreatic imaging in monogenic diabetes mellitus. (22124438)
2012
29
Novel glucokinase mutations in patients with monogenic diabetes - clinical outline of GCK-MD and potential for founder effect in Slavic population. (21348868)
2012
30
Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort. (22035297)
2012
31
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis. (22498247)
2012
32
Monogenic diabetes, renal dysplasia and hypopituitarism: a patient with a HNF1A mutation. (21051477)
2011
33
Creation of the Web-based University of Chicago Monogenic Diabetes Registry: using technology to facilitate longitudinal study of rare subtypes of diabetes. (21880229)
2011
34
Review on monogenic diabetes. (21844708)
2011
35
Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes. (19760265)
2010
36
Novel monogenic diabetes mutations in the P2 promoter of the HNF4A gene are associated with impaired function in vitro. (20546279)
2010
37
If It's Not Type 1 or Type 2 Diabetes, It May be Monogenic Diabetes. (22478834)
2010
38
Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology. (20065546)
2010
39
Clinical heterogeneity in monogenic diabetes caused by mutations in the glucokinase gene (GCK-MODY). (19903754)
2010
40
Testing for monogenic diabetes among children and adolescents with antibody-negative clinically defined Type 1 diabetes. (19900242)
2009
41
Neonatal hyperinsulinaemic hypoglycaemia and monogenic diabetes due to a heterozygous mutation of the HNF4A gene. (19566570)
2009
42
Diagnosing monogenic diabetes: common misinterpretations of genetic findings. (19732375)
2009
43
The clinical application of non-genetic biomarkers for differential diagnosis of monogenic diabetes. (20115926)
2009
44
Functional targets of the monogenic diabetes transcription factors HNF-1alpha and HNF-4alpha are highly conserved between mice and humans. (19188435)
2009
45
RNA processing and mRNA surveillance in monogenic diabetes. (19787084)
2008
46
Monogenic diabetes: implications for therapy of rare types of disease. (17488343)
2008
47
The rare syndromic forms of monogenic diabetes in childhood]. (18577346)
2008
48
Our evolving understanding of monogenic diabetes: possibilities of improving glycaemic control following transfer from insulin to sulphonylureas. (18684428)
2008
49
ISPAD Clinical Practice Consensus Guidelines 2006-2007. The diagnosis and management of monogenic diabetes in children. (17212604)
2006
50
Thiamine transporter mutation: an example of monogenic diabetes mellitus. (17132746)
2006

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 pathwaysScoreTop Affiliating Genes
110.0HNF1A, HNF4A
2
Show member pathways
9.5ABCC8, GCK, KCNJ11
39.4HNF1B, INS, PDX1
49.3HNF1A, HNF4A, INS, PDX1
5
Show member pathways
8.9ABCC8, GCK, INS, KCNJ11, PDX1
6
Show member pathways
8.6GCK, HNF1A, HNF1B, HNF4A, INS, PDX1
78.3ABCC8, GCK, HNF1A, HNF4A, INS, KCNJ11
8
Show member pathways
7.4GCK, HNF1A, HNF1B, HNF4A, IAPP, INS
9
Show member pathways
7.4GCK, HNF1A, HNF1B, HNF4A, IAPP, INS
10
Show member pathways
7.1ABCC8, GCK, HNF1A, HNF1B, HNF4A, INS

GO Terms for genes affiliated with Monogenic Diabetes

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Cellular components related to Monogenic Diabetes according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transcription factor complexGO:00056679.5HNF1A, HNF1B, HNF4A

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1detection of glucoseGO:005159410.6GCK, PDX1
2regulation of pronephros sizeGO:003556510.6HNF1A, HNF1B
3positive regulation of glycolytic processGO:004582110.5GCK, INS
4glucose transportGO:001575810.5GCK, INS
5positive regulation of glycogen biosynthetic processGO:004572510.5GCK, INS
6positive regulation of transcription initiation from RNA polymerase II promoterGO:006026110.5HNF1A, HNF1B
7lipid homeostasisGO:005508810.5GCK, HNF4A
8negative regulation of gluconeogenesisGO:004572110.5GCK, INS
9endocrine pancreas developmentGO:003101810.4HNF1A, PDX1
10regulation of Wnt signaling pathwayGO:003011110.2HNF1A, HNF1B
11glycolytic processGO:000609610.1ADPGK, GCK
12liver developmentGO:00018899.8HNF1A, HNF1B, PDX1
13nitric oxide mediated signal transductionGO:00072639.7MAFA, PDX1
14negative regulation of insulin secretionGO:00466769.7ABCC8, KCNJ11
15regulation of insulin secretionGO:00507969.5ABCC8, GCK, HNF1A, HNF4A, KCNJ11
16glucose homeostasisGO:00425939.4GCK, HNF1A, HNF4A, INS, PDX1
17insulin secretionGO:00300739.1HNF1A, HNF1B, MAFA, PDX1
18regulation of transcription from RNA polymerase II promoterGO:00063579.1HNF1A, HNF4A, MAFA, PDX1
19glucose metabolic processGO:00060069.1ADPGK, GCK, INS, KCNJ11, PDX1
20response to glucoseGO:00097498.9HNF1A, HNF1B, HNF4A, MAFA, PDX1
21positive regulation of transcription, DNA-templatedGO:00458938.7HNF1A, HNF1B, HNF4A, MAFA, PDX1
22response to drugGO:00424938.5ABCC8, HNF1B, HNF4A, KCNJ11, PDX1
23positive regulation of transcription from RNA polymerase II promoterGO:00459448.4HNF1A, HNF1B, HNF4A, MAFA, PDX1

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

idNameGO IDScoreTop Affiliating Genes
1ATP-activated inward rectifier potassium channel activityGO:001527210.5ABCC8, KCNJ11
2transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:000370510.0HNF1B, HNF4A, PDX1
3transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012289.4HNF1A, HNF4A, MAFA
4sequence-specific DNA bindingGO:00435659.2HNF1A, HNF1B, HNF4A, PDX1
5transcription factor activity, sequence-specific DNA bindingGO:00037008.5HNF1A, HNF1B, HNF4A, MAFA, PDX1
6protein heterodimerization activityGO:00469828.4HNF1A, HNF1B, MAFA, PDX1

Sources for Monogenic Diabetes

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet