MODY2
MCID: MTR019
MIFTS: 43

Maturity-Onset Diabetes of the Young, Type 2 (MODY2)

Categories: Genetic diseases, Rare diseases, Liver diseases, Endocrine diseases, Neuronal diseases

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 2

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 2:

Name: Maturity-Onset Diabetes of the Young, Type 2 57 53 29 6 38
Mody2 57 12 53 75
Mody Glucokinase-Related 12 53 75
Mody Type 2 12 53 75
Diabetes of the Young, Maturity-Onset, Type 2 40
Diabetes Mellitus Autosomal Dominant Type Ii 73
Maturity-Onset Diabetes of the Young Type 2 12
Type 2 Maturity-Onset Diabetes of the Young 53
Maturity-Onset Diabetes of the Young 2 75
Diabetes Mellitus Mody Type 2 53
Mody, Glucokinase-Related 57
Mody, Type Ii 57
Mody, Type 2 57
Mody-2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
maturity-onset diabetes of the young, type 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 125851
Disease Ontology 12 DOID:0111100
MeSH 44 D003924
SNOMED-CT via HPO 69 263681008 609561005
UMLS 73 C0342277

Summaries for Maturity-Onset Diabetes of the Young, Type 2

OMIM : 57 MODY is a form of NIDDM (125853) characterized by monogenic autosomal dominant transmission and early age of onset. For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. In a review of the various forms of MODY, Fajans et al. (2001) stated that glucokinase-related MODY2 is a common form of the disorder, especially in children with mild hyperglycemia and in women with gestational diabetes and a family history of diabetes. It has been described in persons of all racial and ethnic groups. More than 130 MODY-associated mutations have been found in the glucokinase gene. Heterozygous mutations in glucokinase are associated with a mild form of nonprogressive hyperglycemia that is usually asymptomatic at diagnosis and is treated with diet alone. The mild fasting hyperglycemia with blood glucose concentrations of 110 to 145 mg/deciliter and impaired glucose tolerance in most affected carriers may be recognized by biochemical testing at a young age, possibly as early as birth. About 50% of the women who are carriers may have gestational diabetes. Less than 50% of the carriers have overt diabetes; many of those who do are obese or elderly. Two percent of MODY2 patients require insulin therapy. Diabetes-associated complications are rare in this form of MODY. MODY was found in 13% of the Caucasian NIDDM families collected in France by Froguel et al. (1991). Gidh-Jain et al. (1993) found that GCK mutations accounted for 56% of MODY families in France. (125851)

MalaCards based summary : Maturity-Onset Diabetes of the Young, Type 2, also known as mody2, is related to maturity-onset diabetes of the young and hyperinsulinism due to glucokinase deficiency. An important gene associated with Maturity-Onset Diabetes of the Young, Type 2 is GCK (Glucokinase), and among its related pathways/superpathways are MAPK signaling pathway and Prolactin Signaling Pathway. The drugs Benzocaine and Somatostatin have been mentioned in the context of this disorder. Affiliated tissues include testes, and related phenotype is maturity-onset diabetes of the young.

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in heterozygous mutation in the GCK gene on chromosome 7p13.

UniProtKB/Swiss-Prot : 75 Maturity-onset diabetes of the young 2: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.

Related Diseases for Maturity-Onset Diabetes of the Young, Type 2

Diseases in the Maturity-Onset Diabetes of the Young family:

Maturity-Onset Diabetes of the Young, Type 1 Maturity-Onset Diabetes of the Young, Type 2
Maturity-Onset Diabetes of the Young, Type 3 Maturity-Onset Diabetes of the Young, Type 4
Maturity-Onset Diabetes of the Young, Type 6 Maturity-Onset Diabetes of the Young, Type 7
Maturity-Onset Diabetes of the Young, Type 9 Maturity-Onset Diabetes of the Young, Type 10
Maturity-Onset Diabetes of the Young, Type 11 Maturity-Onset Diabetes of the Young, Type 13
Maturity-Onset Diabetes of the Young, Type 14

Diseases related to Maturity-Onset Diabetes of the Young, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 29.3 GCK INS LOC105375258
2 hyperinsulinism due to glucokinase deficiency 11.1
3 factitious disorder 10.0 GCK INS
4 monogenic diabetes 10.0 GCK INS
5 pancreatic agenesis 9.9 GCK INS
6 endocrine pancreas disease 9.9 GCK INS
7 hyperinsulinemic hypoglycemia 9.9 GCK INS
8 3-hydroxyacyl-coa dehydrogenase deficiency 9.9 GCK INS
9 diabetes mellitus, permanent neonatal 9.9 GCK INS
10 glucose metabolism disease 9.9 GCK INS
11 neonatal diabetes mellitus 9.8 GCK INS
12 greig cephalopolysyndactyly syndrome 9.8
13 glucose intolerance 9.8 GCK INS
14 acquired metabolic disease 9.8 GCK INS
15 insulinoma 9.8 GCK INS
16 gestational diabetes 9.7 GCK INS
17 hyperinsulinism 9.7 GCK INS
18 hyperinsulinemic hypoglycemia, familial, 3 9.6 GCK LOC105375258
19 hyperglycemia 9.6 GCK INS
20 hypoglycemia 9.5 GCK INS
21 diabetes mellitus, insulin-dependent 9.2 GCK INS

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 2:



Diseases related to Maturity-Onset Diabetes of the Young, Type 2

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 2

Symptoms via clinical synopsis from OMIM:

57
Endo:
diabetes mellitus

Lab:
glucokinase gene defect

Misc:
early onset, mild and relatively uncomplicated course


Clinical features from OMIM:

125851

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 2:

32
# Description HPO Frequency HPO Source Accession
1 maturity-onset diabetes of the young 32 HP:0004904

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 2

Drugs for Maturity-Onset Diabetes of the Young, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 1 1994-09-7, 94-09-7 2337
2
Somatostatin Approved, Investigational Phase 1 38916-34-6, 51110-01-1 53481605
3
Zinc Approved, Investigational Phase 1,Not Applicable 7440-66-6 23994
4 tannic acid Approved, Nutraceutical Phase 1
5 Gastrointestinal Agents Phase 1
6 Hormone Antagonists Phase 1
7 Hormones Phase 1
8 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
9 Hypoglycemic Agents Phase 1,Not Applicable
10 insulin Phase 1,Not Applicable
11 Insulin, Globin Zinc Phase 1,Not Applicable
12 Anesthetics Phase 1
13 Anesthetics, Local Phase 1
14 Central Nervous System Depressants Phase 1
15 glucagon Phase 1
16 Glucagon-Like Peptide 1 Phase 1
17 Peripheral Nervous System Agents Phase 1
18
Insulin Aspart Approved Not Applicable 116094-23-6 16132418
19
Insulin Detemir Approved Not Applicable 169148-63-4 5311023
20
Insulin Glargine Approved Not Applicable 160337-95-1
21
Insulin Lispro Approved Not Applicable 133107-64-9
22
Pancrelipase Approved, Investigational 53608-75-6
23 Dipeptidyl-Peptidase IV Inhibitors
24 gastric inhibitory polypeptide
25 HIV Protease Inhibitors
26 Incretins
27
protease inhibitors
28 Sitagliptin Phosphate
29 Antibodies
30 Immunoglobulins
31 Insulin, Isophane Not Applicable
32 Isophane insulin, beef Not Applicable
33 Isophane Insulin, Human Not Applicable
34 pancreatin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Contribution of Hyperinsulinemia vs. Hyperglycemia to Insulin Resistance in Type 1 Diabetes and Maturity Onset Diabetes of the Young, Type 2 (MODY2) Recruiting NCT02971202 Phase 1 Hyperinsulinemic, euglycemic clamp;20% dextrose
2 Pathophysiological Implications of the Incretin Hormones in Maturity Onset of Diabetes of the Young (MODY) Completed NCT01342939
3 Predisposition Genes in Monogenic Diabetes (DIAMONO) Completed NCT02634229
4 The Belgian Diabetes in Pregnancy Study: BEDIP-N Study Completed NCT02036619
5 Impact 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 Diabetes Recruiting NCT02556840 Not Applicable
6 The Effect of ß-cell Specific Glucokinase Mutation on Glucose Homeostasis and Insulin Secretion in a MODY-2 Family Recruiting NCT01960231

Search NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 2

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 2

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 2:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 2 29 GCK

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 2

MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 2:

41
Testes

Publications for Maturity-Onset Diabetes of the Young, Type 2

Articles related to Maturity-Onset Diabetes of the Young, Type 2:

(show all 14)
# Title Authors Year
1
A novel heterozygous mutation in the glucokinase gene is responsible for an early-onset mild form of maturity-onset diabetes of the young, type 2. ( 25921421 )
2015
2
Incretin effect and glucagon responses to oral and intravenous glucose in patients with maturity-onset diabetes of the young--type 2 and type 3. ( 24677712 )
2014
3
"MODY2" (maturity onset diabetes of the young type 2). ( 25622392 )
2014
4
Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2). ( 24578721 )
2014
5
Identification of Candidate Children for Maturity-Onset Diabetes of the Young Type 2 (MODY2) Gene Testing: A Seven-Item Clinical Flowchart (7-iF). ( 24244580 )
2013
6
GCK Mutation in a Child with Maturity Onset Diabetes of the Young, Type 2. ( 23724189 )
2013
7
Animal model of human maturity onset diabetes of the young--type 2: similar but different? ( 21316026 )
2011
8
Phenotypic and pathomorphological characteristics of a novel mutant mouse model for maturity-onset diabetes of the young type 2 (MODY 2). ( 19952346 )
2010
9
A Novel Mutation of the Glucokinase Gene in Maturity-onset Diabetes of the Young Type 2 (MODY2). ( 23926378 )
2010
10
A novel glucokinase gene mutation and its effect on glycemic/C-peptide fluctuations in a patient with maturity-onset diabetes of the young type 2. ( 20015564 )
2010
11
Screening of mutations in the GCK gene in Jordanian maturity-onset diabetes of the young type 2 (MODY2) patients. ( 19551638 )
2009
12
A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program. ( 15102714 )
2004
13
Cell-biological assessment of human glucokinase mutants causing maturity-onset diabetes of the young type 2 (MODY-2) or glucokinase-linked hyperinsulinaemia (GK-HI). ( 10455021 )
1999
14
Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): different glucokinase defects lead to a common phenotype. ( 10426385 )
1999

Variations for Maturity-Onset Diabetes of the Young, Type 2

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 2:

75 (show top 50) (show all 85)
# Symbol AA change Variation ID SNP ID
1 GCK p.Glu70Lys VAR_003693
2 GCK p.Gly80Ala VAR_003694
3 GCK p.Gly80Ser VAR_003695
4 GCK p.Ser131Pro VAR_003697 rs104894010
5 GCK p.Gly175Arg VAR_003698 rs587780344
6 GCK p.Val182Met VAR_003699 rs587780345
7 GCK p.Ala188Thr VAR_003700 rs751279776
8 GCK p.Val203Ala VAR_003701
9 GCK p.Glu221Lys VAR_003702 rs193922317
10 GCK p.Val226Met VAR_003703 rs148311934
11 GCK p.Gly227Cys VAR_003704
12 GCK p.Thr228Met VAR_003705 rs80356655
13 GCK p.Glu256Lys VAR_003706 rs769268803
14 GCK p.Trp257Arg VAR_003707
15 GCK p.Gly261Arg VAR_003708 rs104894008
16 GCK p.Glu279Gln VAR_003709 rs104894005
17 GCK p.Gly299Arg VAR_003710 rs104894009
18 GCK p.Glu300Gln VAR_003711
19 GCK p.Glu300Lys VAR_003712
20 GCK p.Leu309Pro VAR_003713
21 GCK p.Lys414Glu VAR_003714 rs193922272
22 GCK p.Arg36Trp VAR_010584 rs762263694
23 GCK p.Ala53Ser VAR_010585
24 GCK p.Tyr108His VAR_010586
25 GCK p.His137Arg VAR_010587
26 GCK p.Phe150Ser VAR_010588 rs193922297
27 GCK p.Thr168Pro VAR_010589
28 GCK p.Thr209Met VAR_010590
29 GCK p.Met210Thr VAR_010591
30 GCK p.Cys213Arg VAR_010592
31 GCK p.Ala259Thr VAR_010593
32 GCK p.Gly261Glu VAR_010594
33 GCK p.Ser336Leu VAR_010595
34 GCK p.Val367Met VAR_010596
35 GCK p.Cys382Tyr VAR_010597
36 GCK p.Ala384Thr VAR_010598
37 GCK p.Arg392Cys VAR_010599
38 GCK p.Leu164Pro VAR_012350
39 GCK p.Met210Lys VAR_012351 rs80356654
40 GCK p.Ile110Thr VAR_012352
41 GCK p.Ala119Asp VAR_012353
42 GCK p.Gly385Val VAR_012354
43 GCK p.Asp217Asn VAR_075222 rs147065275
44 GCK p.Ile225Met VAR_075223
45 GCK p.Glu248Lys VAR_075224 rs759421263
46 GCK p.Cys129Tyr VAR_078246
47 GCK p.Ala188Val VAR_078248 rs193922307
48 GCK p.Arg191Trp VAR_078249
49 GCK p.Met202Arg VAR_078250
50 GCK p.Gly223Ser VAR_078251

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 2:

6
(show top 50) (show all 233)
# Gene Variation Type Significance SNP ID Assembly Location
1 GCK NM_000162.3(GCK): c.835G> T (p.Glu279Ter) single nucleotide variant Pathogenic rs104894005 GRCh37 Chromosome 7, 44187277: 44187277
2 GCK NM_000162.3(GCK): c.835G> T (p.Glu279Ter) single nucleotide variant Pathogenic rs104894005 GRCh38 Chromosome 7, 44147678: 44147678
3 GCK NM_000162.3(GCK): c.683C> T (p.Thr228Met) single nucleotide variant Pathogenic rs80356655 GRCh37 Chromosome 7, 44187429: 44187429
4 GCK NM_000162.3(GCK): c.683C> T (p.Thr228Met) single nucleotide variant Pathogenic rs80356655 GRCh38 Chromosome 7, 44147830: 44147830
5 GCK NM_033507.1(GCK): c.784G> A (p.Gly262Arg) single nucleotide variant Pathogenic rs104894008 GRCh37 Chromosome 7, 44187331: 44187331
6 GCK NM_033507.1(GCK): c.784G> A (p.Gly262Arg) single nucleotide variant Pathogenic rs104894008 GRCh38 Chromosome 7, 44147732: 44147732
7 GCK NM_000162.3(GCK): c.895G> C (p.Gly299Arg) single nucleotide variant Pathogenic rs104894009 GRCh37 Chromosome 7, 44186186: 44186186
8 GCK NM_000162.3(GCK): c.895G> C (p.Gly299Arg) single nucleotide variant Pathogenic rs104894009 GRCh38 Chromosome 7, 44146587: 44146587
9 GCK GCK, IVS4DS, 15-BP DEL deletion Pathogenic
10 GCK NM_000162.3(GCK): c.391T> C (p.Ser131Pro) single nucleotide variant Pathogenic rs104894010 GRCh37 Chromosome 7, 44190647: 44190647
11 GCK NM_000162.3(GCK): c.391T> C (p.Ser131Pro) single nucleotide variant Pathogenic rs104894010 GRCh38 Chromosome 7, 44151048: 44151048
12 GCK NM_000162.3(GCK): c.793G> T (p.Glu265Ter) single nucleotide variant Pathogenic rs104894011 GRCh37 Chromosome 7, 44187319: 44187319
13 GCK NM_000162.3(GCK): c.793G> T (p.Glu265Ter) single nucleotide variant Pathogenic rs104894011 GRCh38 Chromosome 7, 44147720: 44147720
14 GCK NM_000162.3(GCK): c.629T> A (p.Met210Lys) single nucleotide variant Pathogenic rs80356654 GRCh37 Chromosome 7, 44189409: 44189409
15 GCK NM_000162.3(GCK): c.629T> A (p.Met210Lys) single nucleotide variant Pathogenic rs80356654 GRCh38 Chromosome 7, 44149810: 44149810
16 GCK NM_000162.3(GCK): c.1132G> A (p.Ala378Thr) single nucleotide variant Pathogenic rs104894016 GRCh37 Chromosome 7, 44185217: 44185217
17 GCK NM_000162.3(GCK): c.1132G> A (p.Ala378Thr) single nucleotide variant Pathogenic rs104894016 GRCh38 Chromosome 7, 44145618: 44145618
18 GCK NM_000162.3(GCK): c.1002_1003delCGinsAA (p.Phe334_Val335delinsLeuMet) indel Likely pathogenic rs193922252 GRCh37 Chromosome 7, 44186078: 44186079
19 GCK NM_000162.3(GCK): c.1002_1003delCGinsAA (p.Phe334_Val335delinsLeuMet) indel Likely pathogenic rs193922252 GRCh38 Chromosome 7, 44146479: 44146480
20 GCK NM_000162.3(GCK): c.1003_1004insAA (p.Val335Glufs) insertion Likely pathogenic rs193922253 GRCh37 Chromosome 7, 44186077: 44186078
21 GCK NM_000162.3(GCK): c.1003_1004insAA (p.Val335Glufs) insertion Likely pathogenic rs193922253 GRCh38 Chromosome 7, 44146478: 44146479
22 GCK NM_000162.3(GCK): c.1003delG (p.Val335Cysfs) deletion Pathogenic/Likely pathogenic rs193922254 GRCh37 Chromosome 7, 44186078: 44186078
23 GCK NM_000162.3(GCK): c.1003delG (p.Val335Cysfs) deletion Pathogenic/Likely pathogenic rs193922254 GRCh38 Chromosome 7, 44146479: 44146479
24 GCK NM_000162.3(GCK): c.1018A> G (p.Ser340Gly) single nucleotide variant Likely pathogenic rs193922255 GRCh37 Chromosome 7, 44186063: 44186063
25 GCK NM_000162.3(GCK): c.1018A> G (p.Ser340Gly) single nucleotide variant Likely pathogenic rs193922255 GRCh38 Chromosome 7, 44146464: 44146464
26 GCK NM_000162.3(GCK): c.1020-1G> C single nucleotide variant Likely pathogenic rs193922258 GRCh37 Chromosome 7, 44185330: 44185330
27 GCK NM_000162.3(GCK): c.1020-1G> C single nucleotide variant Likely pathogenic rs193922258 GRCh38 Chromosome 7, 44145731: 44145731
28 GCK NM_000162.3(GCK): c.103A> T (p.Arg35Ter) single nucleotide variant Likely pathogenic rs193922259 GRCh37 Chromosome 7, 44193005: 44193005
29 GCK NM_000162.3(GCK): c.103A> T (p.Arg35Ter) single nucleotide variant Likely pathogenic rs193922259 GRCh38 Chromosome 7, 44153406: 44153406
30 GCK NM_000162.3(GCK): c.1042A> T (p.Ile348Phe) single nucleotide variant Likely pathogenic rs193922260 GRCh37 Chromosome 7, 44185307: 44185307
31 GCK NM_000162.3(GCK): c.1042A> T (p.Ile348Phe) single nucleotide variant Likely pathogenic rs193922260 GRCh38 Chromosome 7, 44145708: 44145708
32 GCK NM_000162.3(GCK): c.107G> C (p.Arg36Pro) single nucleotide variant Likely pathogenic rs193922261 GRCh37 Chromosome 7, 44193001: 44193001
33 GCK NM_000162.3(GCK): c.107G> C (p.Arg36Pro) single nucleotide variant Likely pathogenic rs193922261 GRCh38 Chromosome 7, 44153402: 44153402
34 GCK NM_000162.3(GCK): c.1114G> T (p.Glu372Ter) single nucleotide variant Likely pathogenic rs193922262 GRCh37 Chromosome 7, 44185235: 44185235
35 GCK NM_000162.3(GCK): c.1114G> T (p.Glu372Ter) single nucleotide variant Likely pathogenic rs193922262 GRCh38 Chromosome 7, 44145636: 44145636
36 GCK NM_000162.3(GCK): c.1124C> T (p.Ser375Phe) single nucleotide variant Likely pathogenic rs193922263 GRCh37 Chromosome 7, 44185225: 44185225
37 GCK NM_000162.3(GCK): c.1124C> T (p.Ser375Phe) single nucleotide variant Likely pathogenic rs193922263 GRCh38 Chromosome 7, 44145626: 44145626
38 GCK NM_000162.3(GCK): c.1142T> G (p.Met381Arg) single nucleotide variant Likely pathogenic rs193922266 GRCh37 Chromosome 7, 44185207: 44185207
39 GCK NM_000162.3(GCK): c.1142T> G (p.Met381Arg) single nucleotide variant Likely pathogenic rs193922266 GRCh38 Chromosome 7, 44145608: 44145608
40 GCK NM_000162.3(GCK): c.1153G> A (p.Gly385Arg) single nucleotide variant Likely pathogenic rs193922267 GRCh37 Chromosome 7, 44185196: 44185196
41 GCK NM_000162.3(GCK): c.1153G> A (p.Gly385Arg) single nucleotide variant Likely pathogenic rs193922267 GRCh38 Chromosome 7, 44145597: 44145597
42 GCK NM_000162.3(GCK): c.1268T> A (p.Phe423Tyr) single nucleotide variant Likely pathogenic rs193922273 GRCh38 Chromosome 7, 44145266: 44145266
43 GCK NM_000162.3(GCK): c.1157T> C (p.Leu386Pro) single nucleotide variant Likely pathogenic rs193922268 GRCh37 Chromosome 7, 44185192: 44185192
44 GCK NM_000162.3(GCK): c.1157T> C (p.Leu386Pro) single nucleotide variant Likely pathogenic rs193922268 GRCh38 Chromosome 7, 44145593: 44145593
45 GCK NM_000162.3(GCK): c.1160C> A (p.Ala387Glu) single nucleotide variant Likely pathogenic rs193921338 GRCh37 Chromosome 7, 44185189: 44185189
46 GCK NM_000162.3(GCK): c.1160C> A (p.Ala387Glu) single nucleotide variant Likely pathogenic rs193921338 GRCh38 Chromosome 7, 44145590: 44145590
47 GCK NM_000162.3(GCK): c.1160C> T (p.Ala387Val) single nucleotide variant Likely pathogenic rs193921338 GRCh37 Chromosome 7, 44185189: 44185189
48 GCK NM_000162.3(GCK): c.1160C> T (p.Ala387Val) single nucleotide variant Likely pathogenic rs193921338 GRCh38 Chromosome 7, 44145590: 44145590
49 GCK NM_000162.3(GCK): c.1169T> A (p.Ile390Asn) single nucleotide variant Likely pathogenic rs193921340 GRCh37 Chromosome 7, 44185180: 44185180
50 GCK NM_000162.3(GCK): c.1169T> A (p.Ile390Asn) single nucleotide variant Likely pathogenic rs193921340 GRCh38 Chromosome 7, 44145581: 44145581

Expression for Maturity-Onset Diabetes of the Young, Type 2

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 2.

Pathways for Maturity-Onset Diabetes of the Young, Type 2

GO Terms for Maturity-Onset Diabetes of the Young, Type 2

Biological processes related to Maturity-Onset Diabetes of the Young, Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.32 GCK INS
2 glucose homeostasis GO:0042593 9.26 GCK INS
3 glucose metabolic process GO:0006006 9.16 GCK INS
4 positive regulation of glycogen biosynthetic process GO:0045725 8.96 GCK INS
5 negative regulation of gluconeogenesis GO:0045721 8.62 GCK INS

Sources for Maturity-Onset Diabetes of the Young, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
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40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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