Monogenic Diabetes disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MNG006 MIFTS: 45	Monogenic Diabetes Categories: Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Monogenic Diabetes

MalaCards integrated aliases for Monogenic Diabetes:

Name: Monogenic Diabetes ²⁰ ²⁹ ⁶ ¹⁷

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

EFO ¹⁷ EFO_1001511

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Summaries for Monogenic Diabetes

GARD : ²⁰ 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 .

MalaCards based summary : Monogenic Diabetes is related to hypoglycemia and wolfram syndrome. An important gene associated with Monogenic Diabetes is GCK (Glucokinase), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Glucose / Energy Metabolism. The drugs insulin and Insulin, Globin Zinc have been mentioned in the context of this disorder. Affiliated tissues include pancreas, adipocyte and pancreatic islet, and related phenotypes are Reduced mammosphere formation and growth/size/body region

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Related Diseases for Monogenic Diabetes

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

(show top 50) (show all 120)

#	Related Disease	Score	Top Affiliating Genes
1	hypoglycemia	30.4	KCNJ11 INS GCK ABCC8
2	wolfram syndrome	30.4	KCNJ11 INS GCK
3	permanent neonatal diabetes mellitus	30.4	ZFP57 PDX1 KCNJ11 INS-IGF2 INS HNF4A
4	diabetes mellitus, ketosis-prone	30.2	KCNJ11 INS ABCC8
5	gestational diabetes	30.0	KCNJ11 INS HNF4A HNF1A GCK ABCC8
6	epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	30.0	KCNJ11 INS ABCC8
7	hyperinsulinism	29.8	KCNJ11 INS HNF4A HNF1A GCK ABCC8
8	insulinoma	29.8	PDX1 INS HNF1A GCK ABCC8
9	hyperglycemia	29.7	PDX1 KCNJ11 INS HNF4A HNF1B HNF1A
10	type 1 diabetes mellitus	29.7	PDX1 INS HNF4A HNF1A GCK
11	hyperproinsulinemia	29.7	INS-IGF2 INS
12	glucose metabolism disease	29.6	KCNJ11 INS GCK ABCC8
13	mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	29.6	LMNA INS BSCL2
14	maturity-onset diabetes of the young	29.5	ZFP57 PDX1 KLF11 KCNJ11 INS-IGF2 INS
15	neonatal diabetes	29.5	ZFP57 PDX1 KLF11 KCNJ11 INS-IGF2 INS
16	maturity-onset diabetes of the young, type 2	29.2	PDX1 KLF11 KCNJ11 INS HNF4A HNF1B
17	renal cysts and diabetes syndrome	29.2	PDX1 KLF11 KCNJ11 HNF4A HNF1B HNF1A
18	familial partial lipodystrophy	29.2	LMNA INS BSCL2
19	hyperinsulinemic hypoglycemia	29.1	PDX1 KCNJ11 INS HNF4A HNF1A GCK
20	pancreatic agenesis	29.0	PDX1 KCNJ11 INS HNF4A HNF1B GCK
21	maturity-onset diabetes of the young, type 1	29.0	PDX1 KLF11 KCNJ11 INS HNF4A HNF1B
22	maturity-onset diabetes of the young, type 3	28.9	PDX1 KLF11 KCNJ11 INS HNF4A HNF1B
23	maturity-onset diabetes of the young, type 8, with exocrine dysfunction	28.9	PDX1 KLF11 KCNJ11 HNF4A HNF1B GCK
24	congenital generalized lipodystrophy	28.8	LMNA INS HNRNPUL2-BSCL2 BSCL2
25	maturity-onset diabetes of the young, type 4	28.7	PDX1 KLF11 KCNJ11 INS HNF4A HNF1B
26	body mass index quantitative trait locus 11	28.1	MC4R LMNA KCNJ11 INS HNF4A HNF1A
27	maturity-onset diabetes of the young, type 10	28.1	PDX1 KLF11 KCNJ11 INS-IGF2 INS HNF4A
28	type 2 diabetes mellitus	27.6	PDX1 MC4R LMNA KCNJ11 INS HNF4A
29	diabetes mellitus	27.1	ZFP57 PDX1 MC4R LMNA KLF11 KCNJ11
30	type 1 diabetes mellitus 11	10.3	PDX1 HNF1A
31	hepatic adenomas, familial	10.2	HNF4A HNF1A
32	munchausen by proxy	10.2	KCNJ11 GCK ABCC8
33	fructose-1,6-bisphosphatase deficiency	10.2	GCK ABCC8
34	hyperinsulinemic hypoglycemia, familial, 7	10.2	KCNJ11 GCK ABCC8
35	hyperinsulinemic hypoglycemia, familial, 6	10.2	KCNJ11 GCK ABCC8
36	cardiomyopathy, dilated, 1o	10.2	KCNJ11 ABCC8
37	wolfram syndrome 1	10.2
38	branchiootic syndrome 1	10.2
39	maturity-onset diabetes of the young, type 14	10.1	PDX1 KLF11 GCK
40	megaloblastic anemia	10.1
41	acute insulin response	10.1	KCNJ11 INS ABCC8
42	renal glucosuria	10.1	INS HNF1B HNF1A
43	asphyxia neonatorum	10.1	KCNJ11 INS ABCC8
44	coronary artery vasospasm	10.1	KCNJ11 ABCC8
45	prediabetes syndrome	10.1	INS HNF4A GCK
46	fanconi-bickel syndrome	10.1	INS ABCC8
47	thiamine-responsive megaloblastic anemia syndrome	10.0
48	alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	10.0
49	hyperinsulinemic hypoglycemia, familial, 5	10.0
50	hyperinsulinemic hypoglycemia, familial, 4	10.0

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

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Symptoms & Phenotypes for Monogenic Diabetes

GenomeRNAi Phenotypes related to Monogenic Diabetes according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Reduced mammosphere formation	GR00396-S	9.1	ABCC8 CEL HNF4A KCNJ11 LMNA MC4R

MGI Mouse Phenotypes related to Monogenic Diabetes:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	growth/size/body region	MP:0005378	10.18	ABCC8 BSCL2 CEL GATA6 GCK HNF1A
2	homeostasis/metabolism	MP:0005376	10.17	ABCC8 BSCL2 CEL GATA6 GCK HNF1A
3	cellular	MP:0005384	10.13	BSCL2 GATA6 GCK HNF1A HNF1B HNF4A
4	endocrine/exocrine gland	MP:0005379	10.1	ABCC8 BSCL2 GCK HNF1A HNF1B HNF4A
5	adipose tissue	MP:0005375	10	BSCL2 CEL HNF1A INS KCNJ11 LMNA
6	liver/biliary system	MP:0005370	10	BSCL2 CEL GATA6 GCK HNF1A HNF1B
7	muscle	MP:0005369	9.7	GATA6 HNF1A HNF1B INS KCNJ11 LMNA
8	no phenotypic analysis	MP:0003012	9.5	ABCC8 BSCL2 HNF1A INS KCNJ11 MC4R
9	renal/urinary system	MP:0005367	9.23	BSCL2 GCK HNF1A HNF1B HNF4A INS

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Drugs & Therapeutics for Monogenic Diabetes

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

(show all 19)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

insulin

Phase 2

Insulin, Globin Zinc

Phase 2

Glucagon

Approved

Phase 1

16941-32-5

Hormone Antagonists

Phase 1

Glucagon-Like Peptide 1

Phase 1

Incretins

Phase 1

Hormones

Phase 1

Gastrointestinal Agents

Phase 1

Insulin aspart

Approved

116094-23-6

16132418

Synonyms:

(AspB28)-human insulin

1024611-56-0

116094-23-6

139532-40-4

28(sup B)-L-Aspartic acid-insulin (human)

877034-90-7

Aspart

Aspart insulin

Aspart Insulin

AspB28-insulin (human)

B28-Aspart-Insulin

B28-Asp-insulin

INA-X 14

Insulin aspart

Insulin aspart [USAN]

Insulin aspart protamine

Insulin aspart protamine recombinant

Insulin aspart recombinant

Insulin X14

Insulin, aspart protamine, human

Insulin, aspart, human

Insulin,aspart protamine

Insulina asparta

LS-185932

NovoLog

Novolog mix 70/30

NovoMix 30

NovoRapid

NovoRapid 30 Mix

UNII-D933668QVX

Insulin detemir

Approved

169148-63-4

5311023

Insulin glargine

Approved

160337-95-1

Insulin lispro

Approved

133107-64-9

Synonyms:

Insulin lispro

Insulin lispro (genetical recombination)

Insulin lispro (rDNA origin)

Insulin lispro protamine

Insulin lispro protamine recombinant

Insulin lispro recombinant

insulin lispro-aabc

Insulin,lispro,human/rDNA

Insulin,lispro,protamine/rDNA

Insulina lispro

Isophane insulin, beef

Isophane Insulin, Human

Hypoglycemic Agents

Insulin, Isophane

Antibodies

Immunoglobulins

Autoantibodies

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Effects of Dorzagliatin on 1st Phase Insulin and Beta-cell Glucose Sensitivity in Individuals With Recent-onset Type 2 Diabetes and Monogenic Diabetes	Recruiting	NCT04531631	Phase 2	Dorzagliatin;placebo
2	Incretin Regulation of Insulin Secretion in Monogenic Diabetes	Completed	NCT01795144	Phase 1	GLP-1;Exendin 9-39
3	Impact of Two Standardized Clinical Care Protocols on Pregnancy Outcomes in Women With Monogenic Diabetes MODY2	Unknown status	NCT02556840
4	Constitution of a Cohort of Families With Monogenic Diabetes to Identify Novel Causes of Non Auto-immune Diabetes Mellitus in Children and Young Adults	Completed	NCT02634229
5	Understanding Beta-cell Destruction Through the Study of EXtremely Early-onset Type 1 Diabetes (A Musketeers' Memorandum Study)	Recruiting	NCT03369821
6	Precision Medicine to Redefine Insulin Secretion and Monogenic Diabetes (PRISM) in Chinese Patients With Young Onset Diabetes	Recruiting	NCT04049149

Search NIH Clinical Center for Monogenic Diabetes

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Genetic Tests for Monogenic Diabetes

Genetic tests related to Monogenic Diabetes:

#	Genetic test	Affiliating Genes
1	Monogenic Diabetes ²⁹

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Anatomical Context for Monogenic Diabetes

MalaCards organs/tissues related to Monogenic Diabetes:

⁴⁰

Pancreas, Adipocyte, Pancreatic Islet

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Publications for Monogenic Diabetes

Articles related to Monogenic Diabetes:

(show top 50) (show all 526)

#	Title	Authors	PMID	Year
1	GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated. ⁶ ⁶¹	Carmody D...Philipson LH	27106716	2016
2	INS-gene mutations: from genetics and beta cell biology to clinical disease. ⁶¹ ⁶	Liu M...Arvan P	25542748	2015
3	Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach. ⁶¹ ⁶	Alkorta-Aranburu G...Del Gaudio D	25306193	2014
4	Doubling the referral rate of monogenic diabetes through a nationwide information campaign--update on glucokinase gene mutations in a Polish cohort. ⁶¹ ⁶	Borowiec M...Mlynarski W	22035297	2012
5	Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis. ⁶ ⁶¹	Beer NL...Gloyn AL	22611063	2012
6	Insulin mutation screening in 1,044 patients with diabetes: mutations in the INS gene are a common cause of neonatal diabetes but a rare cause of diabetes diagnosed in childhood or adulthood. ⁶ ⁶¹	Edghill EL...Ellard S	18162506	2008
7	Prevalence and phenotypic characterization of MC4R variants in a large pediatric cohort. ⁶	Vollbach H...Wabitsch M	27654141	2017
8	Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. ⁶	Raimondo A...International NDM Consortium	25015100	2014
9	Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. ⁶	Steele AM...Hattersley AT	24430320	2014
10	Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. ⁶	Colclough K...Ellard S	23348805	2013
11	Overlapping syndromes in laminopathies: a meta-analysis of the reported literature. ⁶	Carboni N...Giovanna Marrosu M	23853504	2013
12	Homozygous lamin A/C familial lipodystrophy R482Q mutation in autosomal recessive Emery Dreifuss muscular dystrophy. ⁶	Wiltshire KM...Brownell AK	23313286	2013
13	Cosegregation of focal segmental glomerulosclerosis in a family with familial partial lipodystrophy due to a mutation in LMNA. ⁶	Thong KM...Ong AC	24080738	2013
14	Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations. ⁶	Mory PB...Moises RS	22700598	2012
15	Heterozygous ABCC8 mutations are a cause of MODY. ⁶	Bowman P...Ellard S	21989597	2012
16	A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction. ⁶	Jeninga EH...Kalkhoven E	23430896	2012
17	Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia. ⁶	Valentinova L...Gloyn AL	22493702	2012
18	Susceptibility of glucokinase-MODY mutants to inactivation by oxidative stress in pancreatic β-cells. ⁶	Cullen KS...Arden C	22028181	2011
19	Mutational analysis of allosteric activation and inhibition of glucokinase. ⁶	Zelent B...Matschinsky FM	21831042	2011
20	Insight into the biochemical characteristics of a novel glucokinase gene mutation. ⁶	Shen Y...Weng J	21104275	2011
21	GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation. ⁶	Bonfig W...Lohse P	22389783	2011
22	Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. ⁶	Pruhova S...Lebl J	20337973	2010
23	Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). ⁶	Boesgaard TW...Hansen T	20226046	2010
24	Genotype-phenotype correlations in laminopathies: how does fate translate? ⁶	Scharner J...Zammit PS	20074070	2010
25	Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. ⁶	Osbak KK...Gloyn AL	19790256	2009
26	Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. ⁶	Lorini R...Italian Society of Pediatric Endocrinology and Diabetology (ISPED) Study Group	19564454	2009
27	Glucokinase gene mutation screening in Argentinean clinically characterized MODY patients. ⁶	Lopez AP...Frechtel GD	19358091	2009
28	Mutations in the ABCC8 gene can cause autoantibody-negative insulin-dependent diabetes. ⁶	Hartemann-Heurtier A...Grimaldi A	19342262	2009
29	The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation. ⁶	Wojtanik KM...Londos C	19201734	2009
30	Human Splicing Finder: an online bioinformatics tool to predict splicing signals. ⁶	Desmet FO...Beroud C	19339519	2009
31	Novel mutations in GCK and HNF1A genes in Italian families with MODY phenotype. ⁶	Cappelli A...Pianese L	19150152	2009
32	Biochemical characterization of MODY2 glucokinase variants V62M and G72R reveals reduced enzymatic activities relative to wild type. ⁶	Ralph EC...Sun S	19187021	2009
33	Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry. ⁶	Sagen JV...Njolstad PR	18399931	2008
34	Mutations in the insulin gene can cause MODY and autoantibody-negative type 1 diabetes. ⁶	Molven A...Njolstad PR	18192540	2008
35	The type and the position of HNF1A mutation modulate age at diagnosis of diabetes in patients with maturity-onset diabetes of the young (MODY)-3. ⁶	Bellanne-Chantelot C...Timsit J	18003757	2008
36	Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes. ⁶	de Wet H...Ashcroft FM	18025464	2007
37	Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain. ⁶	Estalella I...Spanish MODY Group	17573900	2007
38	Insulin gene mutations as a cause of permanent neonatal diabetes. ⁶	Stoy J...Neonatal Diabetes International Collaborative Group	17855560	2007
39	Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. ⁶	Flanagan SE...Hattersley AT	17446535	2007
40	Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity. ⁶	Arden C...Agius L	17389332	2007
41	New ABCC8 mutations in relapsing neonatal diabetes and clinical features. ⁶	Vaxillaire M...SUR1-Neonatal Diabetes Study Group	17389331	2007
42	Six novel mutations in the GCK gene in MODY patients. ⁶	Pinterova D...Hansen T	17204055	2007
43	Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients. ⁶	Vits L...Wuyts W	16965331	2006
44	Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. ⁶	Babenko AP...Froguel P	16885549	2006
45	Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents. ⁶	Feigerlova E...Hansen T	16602010	2006
46	From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation. ⁶	Sagen JV...Matschinsky FM	16731834	2006
47	Laminopathies: multisystem dystrophy syndromes. ⁶	Jacob KN...Garg A	16364671	2006
48	Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy. ⁶	Boguslavsky RL...Worman HJ	16415042	2006
49	Homeodomain revisited: a lesson from disease-causing mutations. ⁶	Chi YI	15726414	2005
50	Identification and characterization of the ATP-binding site in human pancreatic glucokinase. ⁶	Marotta DE...Lange AJ	15752705	2005

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Genes for Monogenic Diabetes

Genes related to Monogenic Diabetes (6 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	GCK	Glucokinase	Protein Coding	442.35	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Publications Variants (show sections)	16731834 18399931 21104275 (more) 16602010 17204055 20337973 14517956 22035297
2	LMNA	Lamin A/C	Protein Coding	432.66	Pathogenic ⁶ Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	23853504 2007407 16364671 (more) 22700598 10868844 10999845 10587585 10739751 10655060 23313286 16415042 19201734 20074070 24080738 2270059 15219508
3	HNF1A	HNF1 Homeobox A	Protein Coding	417.39	Pathogenic ⁶ GeneCards inferred via : Publications Variants (show sections)	11058894 11463573 23348805 (more) 18003757
4	BSCL2	BSCL2 Lipid Droplet Biogenesis Associated, Seipin	Protein Coding	407.91	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	23430896
5	HNRNPUL2-BSCL2	HNRNPUL2-BSCL2 Readthrough (NMD Candidate)	RNA Gene	407.91	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	23430896
6	MC4R	Melanocortin 4 Receptor	Protein Coding	407.86	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)	10592235 10199800 12646665 (more) 27654141
7	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	42.16	Likely pathogenic ⁶ GeneCards inferred via : Publications Variants (show sections)	17446535 18025464 25306193 (more) 16885549
8	INS	Insulin	Protein Coding	40.92	Likely pathogenic ⁶ GeneCards inferred via : Publications Variants (show sections)	17855560 18192540 18162506 (more) 20226046 25542748
9	INS-IGF2	INS-IGF2 Readthrough	Protein Coding	31.76	Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)	17855560 18192540 18162506 (more) 20226046 25542748
10	HNF4A	Hepatocyte Nuclear Factor 4 Alpha	Protein Coding	16.93	GeneCards inferred via : Publications Variants (show sections)
11	PDX1	Pancreatic And Duodenal Homeobox 1	Protein Coding	16.76	GeneCards inferred via : Publications Variants (show sections)
12	HNF1B	HNF1 Homeobox B	Protein Coding	16.55	GeneCards inferred via : Publications Variants (show sections)
13	KCNJ11	Potassium Inwardly Rectifying Channel Subfamily J Member 11	Protein Coding	16.46	GeneCards inferred via : Publications Variants (show sections)
14	CEL	Carboxyl Ester Lipase	Protein Coding	16.39	GeneCards inferred via : Publications Variants (show sections)
15	ZFP57	ZFP57 Zinc Finger Protein	Protein Coding	16.26	GeneCards inferred via : Publications Variants (show sections)
16	GATA6	GATA Binding Protein 6	Protein Coding	16.08	GeneCards inferred via : Publications Variants (show sections)
17	KLF11	Kruppel Like Factor 11	Protein Coding	16.08	GeneCards inferred via : Publications Variants (show sections)

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Variations for Monogenic Diabetes

ClinVar genetic disease variations for Monogenic Diabetes:

⁶ (show top 50) (show all 461)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	GCK	NM_000162.5(GCK):c.1016A>G (p.Glu339Gly)	SNV	Pathogenic	393450	rs1057524903	GRCh37: 7:44186065-44186065 GRCh38: 7:44146466-44146466
2	HNF1A	NM_000545.6(HNF1A):c.694dup (p.Leu232fs)	Duplication	Pathogenic	393456	rs1057524908	GRCh37: 12:121431489-121431490 GRCh38: 12:120993686-120993687
3	GCK	NM_000162.5(GCK):c.1253+2T>A	SNV	Pathogenic	393449	rs1057524902	GRCh37: 7:44185094-44185094 GRCh38: 7:44145495-44145495
4	GCK	NM_000162.5(GCK):c.680-1G>A	SNV	Pathogenic	393452	rs1057524905	GRCh37: 7:44187433-44187433 GRCh38: 7:44147834-44147834
5	LMNA	NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)	SNV	Pathogenic	14486	rs11575937	GRCh37: 1:156106776-156106776 GRCh38: 1:156136985-156136985
6	BSCL2 , HNRNPUL2-BSCL2	NM_032667.6(BSCL2):c.439-1G>C	SNV	Pathogenic	393432	rs1057524896	GRCh37: 11:62460270-62460270 GRCh38: 11:62692798-62692798
7	HNF1A	NM_000545.6(HNF1A):c.815G>A (p.Arg272His)	SNV	Pathogenic	14931	rs137853238	GRCh37: 12:121432068-121432068 GRCh38: 12:120994265-120994265
8	MC4R	NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)	SNV	Pathogenic	562356	rs369841551	GRCh37: 18:58039117-58039117 GRCh38: 18:60371884-60371884
9	GCK	NM_000162.5(GCK):c.128G>A (p.Arg43His)	SNV	Likely pathogenic	393453	rs764232985	GRCh37: 7:44192980-44192980 GRCh38: 7:44153381-44153381
10	GCK	NM_000162.5(GCK):c.214G>A (p.Gly72Arg)	SNV	Likely pathogenic	36209	rs193922289	GRCh37: 7:44192019-44192019 GRCh38: 7:44152420-44152420
11	GCK	NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)	SNV	Likely pathogenic	36188	rs193922272	GRCh37: 7:44185109-44185109 GRCh38: 7:44145510-44145510
12	ABCC8	NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)	SNV	Likely pathogenic	585346	rs193922401	GRCh37: 11:17417461-17417461 GRCh38: 11:17395914-17395914
13	ABCC8	NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys)	SNV	Likely pathogenic	9105	rs137852673	GRCh37: 11:17417462-17417462 GRCh38: 11:17395915-17395915
14	GCK	NM_000162.5(GCK):c.682A>G (p.Thr228Ala)	SNV	Likely pathogenic	447413	rs1332966015	GRCh37: 7:44187430-44187430 GRCh38: 7:44147831-44147831
15	GCK	NM_000162.5(GCK):c.748C>T (p.Arg250Cys)	SNV	Likely pathogenic	393451	rs1057524904	GRCh37: 7:44187364-44187364 GRCh38: 7:44147765-44147765
16	LMNA	NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)	SNV	Likely pathogenic	66762	rs267607555	GRCh37: 1:156105800-156105800 GRCh38: 1:156136009-156136009
17	GCK	NM_000162.5(GCK):c.1361C>A (p.Ala454Glu)	SNV	Likely pathogenic	393447	rs1057524900	GRCh37: 7:44184772-44184772 GRCh38: 7:44145173-44145173
18	INS-IGF2 , INS	NM_000207.3(INS):c.278A>G (p.Glu93Gly)	SNV	Likely pathogenic	393455	rs1057524907	GRCh37: 11:2181137-2181137 GRCh38: 11:2159907-2159907
19	GCK	NM_000162.5(GCK):c.1344del (p.Ala449fs)	Deletion	Likely pathogenic	393448	rs1057524901	GRCh37: 7:44184789-44184789 GRCh38: 7:44145190-44145190
20	GCK	NM_000162.5(GCK):c.122T>C (p.Met41Thr)	SNV	Likely pathogenic	393454	rs1057524906	GRCh37: 7:44192986-44192986 GRCh38: 7:44153387-44153387
21	GLIS3	NM_001042413.2(GLIS3):c.844C>G (p.Pro282Ala)	SNV	Uncertain significance	366990	rs143051164	GRCh37: 9:4118634-4118634 GRCh38: 9:4118634-4118634
22	KLF11	NM_003597.5(KLF11):c.953T>G (p.Leu318Arg)	SNV	Uncertain significance	393368	rs144431930	GRCh37: 2:10188417-10188417 GRCh38: 2:10048290-10048290
23	HNF1A	NM_000545.6(HNF1A):c.616T>A (p.Trp206Arg)	SNV	Uncertain significance	393434	rs1057524898	GRCh37: 12:121431412-121431412 GRCh38: 12:120993609-120993609
24	RFX6	NM_173560.4(RFX6):c.1319A>G (p.Tyr440Cys)	SNV	Uncertain significance	393394	rs1018054636	GRCh37: 6:117241609-117241609 GRCh38: 6:116920446-116920446
25	PAX4	NM_001366110.1(PAX4):c.128T>C (p.Ile43Thr)	SNV	Uncertain significance	393409	rs1057524894	GRCh37: 7:127255471-127255471 GRCh38: 7:127615417-127615417
26	GLIS3	NM_001042413.2(GLIS3):c.1330C>T (p.Pro444Ser)	SNV	Uncertain significance	393414	rs755318788	GRCh37: 9:4118148-4118148 GRCh38: 9:4118148-4118148
27	GLIS3 , GLIS3-AS1	NM_001042413.2(GLIS3):c.2095C>T (p.Arg699Cys)	SNV	Uncertain significance	393413	rs145867412	GRCh37: 9:3898724-3898724 GRCh38: 9:3898724-3898724
28	AGPAT2	NM_006412.4(AGPAT2):c.640A>G (p.Lys214Glu)	SNV	Uncertain significance	393424	rs142248792	GRCh37: 9:139569208-139569208 GRCh38: 9:136674756-136674756
29	FOXP3	NM_014009.3(FOXP3):c.409G>A (p.Ala137Thr)	SNV	Uncertain significance	393445	rs1057524899	GRCh37: X:49113929-49113929 GRCh38: X:49257472-49257472
30	EIF2AK3	NM_004836.7(EIF2AK3):c.440T>G (p.Val147Gly)	SNV	Uncertain significance	393383	rs1057524886	GRCh37: 2:88895180-88895180 GRCh38: 2:88595662-88595662
31	LEPR	NM_002303.5(LEPR):c.3479T>C (p.Met1160Thr)	SNV	Uncertain significance	298003	rs145685060	GRCh37: 1:66102679-66102679 GRCh38: 1:65636996-65636996
32	INSR	NM_000208.4(INSR):c.2564G>A (p.Gly855Asp)	SNV	Uncertain significance	393443	rs201667363	GRCh37: 19:7141806-7141806 GRCh38: 19:7141795-7141795
33	BLK	NM_001715.3(BLK):c.154C>A (p.Pro52Thr)	SNV	Uncertain significance	393410	rs375173243	GRCh37: 8:11403591-11403591 GRCh38: 8:11546082-11546082
34	GCK	NM_000162.5(GCK):c.918_919delinsAT (p.Leu307Phe)	Indel	Uncertain significance	393397	rs1057524892	GRCh37: 7:44186162-44186163 GRCh38: 7:44146563-44146564
35	CAVIN1	NM_012232.6(CAVIN1):c.553_570dup (p.Glu185_Glu190dup)	Duplication	Uncertain significance	393442	rs537998274	GRCh37: 17:40557307-40557308 GRCh38: 17:42405289-42405290
36	SLC19A2	NM_006996.3(SLC19A2):c.824G>T (p.Arg275Leu)	SNV	Uncertain significance	393365	rs61734338	GRCh37: 1:169439408-169439408 GRCh38: 1:169470170-169470170
37	GLIS3	NM_001042413.2(GLIS3):c.1191G>C (p.Gln397His)	SNV	Uncertain significance	393416	rs138497710	GRCh37: 9:4118287-4118287 GRCh38: 9:4118287-4118287
38	SLC2A2	NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile)	SNV	Uncertain significance	16090	rs121909741	GRCh37: 3:170724960-170724960 GRCh38: 3:171007171-171007171
39	AGPAT2	NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg)	SNV	Uncertain significance	393425	rs114782902	GRCh37: 9:139571546-139571546 GRCh38: 9:136677094-136677094
40	HNF1A	NM_000545.6(HNF1A):c.965A>G (p.Tyr322Cys)	SNV	Uncertain significance	36835	rs140491072	GRCh37: 12:121434074-121434074 GRCh38: 12:120996271-120996271
41	HNF4A	NM_175914.4(HNF4A):c.844G>A (p.Asp282Asn)	SNV	Uncertain significance	393444	rs145902391	GRCh37: 20:43052675-43052675 GRCh38: 20:44424035-44424035
42	AGPAT2	NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val)	SNV	Uncertain significance	393423	rs142417583	GRCh37: 9:139568232-139568232 GRCh38: 9:136673780-136673780
43	LEPR	NM_001003679.3(LEPR):c.1055G>T (p.Cys352Phe)	SNV	Uncertain significance	393363	rs1057524881	GRCh37: 1:66067135-66067135 GRCh38: 1:65601452-65601452
44	RFX6	NM_173560.4(RFX6):c.2561C>T (p.Ser854Leu)	SNV	Uncertain significance	393396	rs201522681	GRCh37: 6:117250084-117250084 GRCh38: 6:116928921-116928921
45	KLF11	NM_003597.5(KLF11):c.608_609delinsAG (p.Gly203Glu)	Indel	Uncertain significance	393367	rs1057524882	GRCh37: 2:10188072-10188073 GRCh38: 2:10047945-10047946
46	CEL	NM_001807.5(CEL):c.860C>T (p.Thr287Met)	SNV	Uncertain significance	393420	rs773990119	GRCh37: 9:135942557-135942557 GRCh38: 9:133067170-133067170
47	GLIS3	NM_001042413.2(GLIS3):c.590A>T (p.Asp197Val)	SNV	Uncertain significance	393418	rs761151597	GRCh37: 9:4125740-4125740 GRCh38: 9:4125740-4125740
48	PTF1A	NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala)	SNV	Uncertain significance	130054	rs535090775	GRCh37: 10:23481728-23481728 GRCh38: 10:23192799-23192799
49	GLIS3	NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly)	SNV	Uncertain significance	393419	rs148168366	GRCh37: 9:4286194-4286194 GRCh38: 9:4286194-4286194
50	CAV1	NM_001753.5(CAV1):c.43A>G (p.Thr15Ala)	SNV	Uncertain significance	393407	rs760934779	GRCh37: 7:116166591-116166591 GRCh38: 7:116526537-116526537

Sources

Expression for Monogenic Diabetes

Search GEO for disease gene expression data for Monogenic Diabetes.

Sources

Pathways for Monogenic Diabetes

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

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Aldosterone synthesis and secretion ³⁶ Show member pathways Ca2+ activated K+ channels ⁶⁵ Cortisol synthesis and secretion ³⁶ Cushing syndrome ³⁶ Insulin secretion ³⁶ Melanogenesis ³⁶ Thyroid hormone synthesis ³⁶	12.62	PDX1 KCNJ11 INS GCK ABCC8
2	Glucose / Energy Metabolism ⁴	12.21	PDX1 INS HNF4A HNF1A BSCL2
3	Hepatic ABC Transporters ⁶³ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶³	11.83	PDX1 INS HNF4A HNF1B HNF1A GCK
4	Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers ⁶⁴	11.79	PDX1 INS HNF1B
5	Adipogenesis ¹	11.79	LMNA INS HNF1A BSCL2
6	Regulation of beta-cell development ⁶⁵ Show member pathways Maturity onset diabetes of the young ³⁶ Regulation of gene expression in beta cells ⁶⁵ Regulation of gene expression in early pancreatic precursor cells ⁶⁵ Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells ⁶⁵ Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells ⁶⁵	11.63	PDX1 INS HNF4A HNF1B HNF1A GCK
7	Antiarrhythmic Pathway, Pharmacodynamics ⁶⁰	11.33	LMNA KCNJ11 ABCC8
8	Type II diabetes mellitus ¹ ³⁶ Show member pathways Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics ⁶⁰	11.26	PDX1 KCNJ11 INS-IGF2 INS HNF4A HNF1B
9	FOXA2 and FOXA3 transcription factor networks ¹	11.14	PDX1 KCNJ11 INS HNF4A HNF1A GCK
10	Antipsychotics Pathway (Metabolic Side Effects), Pharmacodynamics ⁶⁰	10.78	MC4R INS
11	Dichloroethylene metabolism ²³	10.34	HNF4A HNF1A

Sources

GO Terms for Monogenic Diabetes

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

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin	GO:0000785	9.5	ZFP57 PDX1 KLF11 HNF4A HNF1B HNF1A
2	inward rectifying potassium channel	GO:0008282	8.62	KCNJ11 ABCC8

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

(show all 22)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of transcription by RNA polymerase II	GO:0006357	10.09	ZFP57 PDX1 KLF11 HNF4A HNF1B HNF1A
2	positive regulation of transcription, DNA-templated	GO:0045893	10	PDX1 HNF4A HNF1B HNF1A GATA6
3	response to drug	GO:0042493	9.85	PDX1 KCNJ11 HNF1B GATA6 ABCC8
4	response to glucose	GO:0009749	9.7	PDX1 HNF4A HNF1A
5	liver development	GO:0001889	9.62	PDX1 HNF1B HNF1A GATA6
6	cellular glucose homeostasis	GO:0001678	9.61	GCK ABCC8
7	insulin secretion	GO:0030073	9.61	PDX1 HNF1B HNF1A
8	positive regulation of transcription initiation from RNA polymerase II promoter	GO:0060261	9.59	HNF1B HNF1A
9	negative regulation of lipid catabolic process	GO:0050995	9.58	INS BSCL2
10	negative regulation of gluconeogenesis	GO:0045721	9.58	INS GCK
11	inorganic cation transmembrane transport	GO:0098662	9.57	KCNJ11 ABCC8
12	positive regulation of glycogen biosynthetic process	GO:0045725	9.56	INS GCK
13	regulation of insulin secretion	GO:0050796	9.56	KCNJ11 HNF4A GCK ABCC8
14	hepatocyte differentiation	GO:0070365	9.54	HNF4A HNF1B
15	endocrine pancreas development	GO:0031018	9.54	PDX1 HNF1B HNF1A
16	type B pancreatic cell differentiation	GO:0003309	9.51	PDX1 GATA6
17	negative regulation of feeding behavior	GO:2000252	9.49	MC4R INS
18	detection of glucose	GO:0051594	9.48	PDX1 GCK
19	glucose metabolic process	GO:0006006	9.46	PDX1 KCNJ11 INS GCK
20	regulation of pronephros size	GO:0035565	9.4	HNF1B HNF1A
21	glucose homeostasis	GO:0042593	9.35	PDX1 INS HNF4A HNF1A GCK
22	pancreas development	GO:0031016	8.92	PDX1 HNF1B HNF1A GATA6

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

#	Name	GO ID	Score	Top Affiliating Genes
1	RNA polymerase II proximal promoter sequence-specific DNA binding	GO:0000978	9.91	PDX1 KLF11 HNF4A HNF1B HNF1A GATA6
2	sequence-specific DNA binding	GO:0043565	9.72	PDX1 HNF4A HNF1B HNF1A GATA6
3	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	9.7	ZFP57 PDX1 KLF11 HNF4A HNF1B HNF1A
4	transcription regulatory region sequence-specific DNA binding	GO:0000976	9.67	KLF11 HNF4A HNF1A GATA6
5	chromatin binding	GO:0003682	9.65	ZFP57 PDX1 HNF4A HNF1A GATA6
6	cation-transporting ATPase activity	GO:0019829	9.4	KCNJ11 ABCC8
7	DNA-binding transcription factor activity	GO:0003700	9.1	PDX1 KLF11 HNF4A HNF1B HNF1A GATA6
8	ATP-activated inward rectifier potassium channel activity	GO:0015272	8.96	KCNJ11 ABCC8

Sources

Sources for Monogenic Diabetes

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

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¹⁵ DISEASES

¹⁶ DrugBank

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¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia