MODY2
MCID: MDY003
MIFTS: 36

Mody, Type Ii (MODY2) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Mody, Type Ii

Aliases & Descriptions for Mody, Type Ii:

Name: Mody, Type Ii 54 38
Mody2 12 50 24 66
Mody Glucokinase-Related 12 50 66
Mody Type 2 12 50 66
Maturity-Onset Diabetes of the Young Type 2 12 24
Maturity-Onset Diabetes of the Young 2 66 29
Maturity-Onset Diabetes of the Young, Type 2 50
Maturity-Onset Diabetes of the Young Type Ii 24
Diabetes Mellitus Autosomal Dominant Type Ii 69
Type 2 Maturity-Onset Diabetes of the Young 50
Diabetes Mellitus, Mody Type 2 24
Diabetes Mellitus Mody Type 2 50
Mody-2 66

Characteristics:

HPO:

32
mody, type ii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 125851
Disease Ontology 12 DOID:0111100
MeSH 42 D003924

Summaries for Mody, Type Ii

OMIM : 54 MODY is a form of NIDDM (125853) characterized by monogenic autosomal dominant transmission and early age of onset. For... (125851) more...

MalaCards based summary : Mody, Type Ii, also known as mody2, is related to maturity-onset diabetes of the young and greig cephalopolysyndactyly syndrome, and has symptoms including maturity-onset diabetes of the young An important gene associated with Mody, Type Ii is GCK (Glucokinase). The drugs Cilostazol and Moxonidine have been mentioned in the context of this disorder. Affiliated tissues include testes.

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 : 66 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 Mody, Type Ii

Diseases related to Mody, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 10.5
2 greig cephalopolysyndactyly syndrome 9.8

Symptoms & Phenotypes for Mody, Type Ii

Symptoms by clinical synopsis from OMIM:

125851

Clinical features from OMIM:

125851

Human phenotypes related to Mody, Type Ii:

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

Drugs & Therapeutics for Mody, Type Ii

Drugs for Mody, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 789)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cilostazol Approved Phase 4 73963-72-1 2754
2 Moxonidine Approved Phase 4 75438-57-2 4810
3
Linagliptin Approved Phase 4,Phase 3,Phase 2,Phase 1 668270-12-0 10096344
4
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 657-24-9 14219 4091
5
Voglibose Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 83480-29-9 444020
6
Liraglutide Approved Phase 4,Phase 3,Phase 2,Phase 1 204656-20-2
7
Orlistat Approved, Investigational Phase 4,Phase 2 96829-58-2 3034010
8
Pioglitazone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 111025-46-8 4829
9
Exenatide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 141758-74-9 15991534
10
Glipizide Approved Phase 4,Phase 3,Phase 2,Phase 1 29094-61-9 3478
11
Saxagliptin Approved Phase 4,Phase 3,Phase 2,Phase 1 361442-04-8 11243969
12
Acarbose Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 56180-94-0 441184
13
Insulin Glargine Approved Phase 4,Phase 3,Phase 2,Phase 1 160337-95-1
14
Insulin Lispro Approved Phase 4,Phase 3,Phase 2,Phase 1 133107-64-9
15
Zinc Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7440-66-6 32051 23994
16
Aspirin Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-78-2 2244
17
Insulin Aspart Approved Phase 4,Phase 3,Phase 2,Phase 1 116094-23-6 16132418
18
Insulin Detemir Approved Phase 4,Phase 3,Phase 1 169148-63-4 5311023
19
Glimepiride Approved Phase 4,Phase 3,Phase 2,Phase 1 93479-97-1 3476
20
Fluvastatin Approved Phase 4 93957-54-1 1548972
21
Valsartan Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 137862-53-4 60846
22
Ursodeoxycholic acid Approved, Investigational Phase 4,Phase 2 128-13-2 31401
23
Ethanol Approved Phase 4,Phase 2,Phase 1 64-17-5 702
24
Gliclazide Approved Phase 4,Phase 3,Phase 1,Phase 2 21187-98-4 3475
25
Ramipril Approved Phase 4,Phase 3,Early Phase 1 87333-19-5 5362129
26
Ticlopidine Approved Phase 4,Phase 2 55142-85-3 5472
27
Alogliptin Approved Phase 4,Phase 3,Phase 2,Phase 1 850649-61-5 11450633
28
Repaglinide Approved, Investigational Phase 4,Phase 3,Phase 2 135062-02-1 65981
29
Insulin-glulisine Approved Phase 4,Phase 3,Phase 2,Phase 1 207748-29-6
30
Amlodipine Approved Phase 4,Phase 3,Phase 1 88150-42-9 2162
31
Atenolol Approved Phase 4 29122-68-7 2249
32
Clonidine Approved Phase 4,Phase 3 4205-90-7 2803
33
Doxazosin Approved Phase 4 74191-85-8 3157
34
Furosemide Approved, Vet_approved Phase 4,Phase 1 54-31-9 3440
35
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 58-93-5 3639
36
Irbesartan Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 138402-11-6 3749
37
Simvastatin Approved Phase 4,Phase 3,Phase 2,Phase 1 79902-63-9 54454
38
Glyburide Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 10238-21-8 3488
39
Vildagliptin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 274901-16-5 6918537
40
Pentoxifylline Approved, Investigational Phase 4 6493-05-6 4740
41
Methyltestosterone Approved Phase 4,Phase 3,Phase 2 58-18-4 6010
42
Testosterone Approved, Investigational Phase 4,Phase 3,Phase 2 58-22-0 6013
43
Enalapril Approved, Vet_approved Phase 4,Phase 3,Phase 2 75847-73-3 5362032 40466924
44
Enalaprilat Approved Phase 4,Phase 3,Phase 2 76420-72-9 6917719
45
Zaleplon Approved, Illicit, Investigational Phase 4 151319-34-5 5719
46
Isosorbide Dinitrate Approved Phase 4 87-33-2 6883
47
Nitric Oxide Approved Phase 4,Phase 2 10102-43-9 145068
48
Oxymetazoline Approved Phase 4,Phase 1 1491-59-4 4636
49
Phenylephrine Approved Phase 4,Phase 1 59-42-7 6041
50
Fenofibrate Approved Phase 4,Phase 3,Phase 2 49562-28-9 3339

Interventional clinical trials:

(show top 50) (show all 5068)
id Name Status NCT ID Phase
1 Thyroid Study Type 2 Diabetes Mellitus (T2DM) Unknown status NCT01379170 Phase 4
2 Effects of Cilostazol on Plasma Adipocytokine and Arterial Stiffness Unknown status NCT00573950 Phase 4
3 Study of the Effect of Moxonidine and Diet on Sympathetic Functions in Young Adults With Obesity Unknown status NCT01180231 Phase 4
4 Effect of Linagliptin on Insulin Sensitivity and Pancreatic Beta Cell Function in Patients With Type 2 Diabetes Mellitus Unknown status NCT02097342 Phase 4
5 Continuous Glucose Monitoring in Patients With Type 2 Diabetes Unknown status NCT00529815 Phase 4
6 Bone Turnover in Type 2 Diabetes Patients Unknown status NCT00732121 Phase 4
7 Combinatorial Therapy for Peristent Type 2 Diabetes After Gastric Banding Unknown status NCT01597531 Phase 4
8 Prospective Randomized Trials of Gastric Bypass Surgery in Patients With Type II Diabetes Mellitus Unknown status NCT00540462 Phase 4
9 Multifactorial Intervention in Type 2 Diabetes - Italy Unknown status NCT01240070 Phase 4
10 Comparison of the Efficacy and Safety Between Pioglitazone and Placebo Added to Combination Therapy in Type 2 Diabetes Unknown status NCT00991055 Phase 4
11 Study of Comparison the Treatment Effect Between Gastric Bypass and Exenatide in Type 2 Diabetes Unknown status NCT01435980 Phase 4
12 Clinical Study to Compare Various Dosing and Titration Guidelines of Insulin Delivered Via V-Go ® in Patients With Type 2 Diabetes Initiating Basal Bolus Therapy in Primary Care Offices Unknown status NCT02361489 Phase 4
13 Outpatient Discharge Therapy With Saxagliptin+MetforminXR vs GlipizideXL for Type 2 Diabetes With Severe Hyperglycemia Unknown status NCT01267448 Phase 4
14 Efficacy of Acarbose on Intestinal Microbiome and Incretins of Type 2 Diabetes Unknown status NCT01758471 Phase 4
15 Prevalence of Macrovascular Disease in Type 2 Diabetes Mellitus Unknown status NCT00298844 Phase 4
16 Metformin and Sitagliptin Therapy for Adult Patients With Type 2 Diabetes Admitted to the General Medical Unit Unknown status NCT02250794 Phase 4
17 Type 2 Diabetes Mellitus and Atherosclerosis Unknown status NCT01250340 Phase 4
18 The Impact of Omega-3 Supplementation on Gene Expression in Type 2 Diabetics Unknown status NCT01478776 Phase 4
19 Can Insulin Glargine Improve Myocardial Function in Patients With T2D and Coronary Artery Disease (CAD) Unknown status NCT01035528 Phase 4
20 Comparison of Cardiovascular Outcomes of Pioglitazone and Metformin in Type 2 Diabetes Patients Unknown status NCT00399204 Phase 4
21 Insulin Effects on Metabolism and Cardiovascular Function in Type 2 Diabetes Unknown status NCT00747409 Phase 4
22 the Effect of Vitamin D on the Serum Thioredoxin, TBP-2, Thioredoxin Reductase, Gene Expression of TBP-2 in Patients With Type II Diabetes Unknown status NCT01876563 Phase 4
23 The Efficacy of Glucerna SR in Chinese Drug-naïve Subjects With Type 2 Diabetes Unknown status NCT02248714 Phase 4
24 Mechanistic Study of the Systolic Blood Pressure Lowering Effect of Dapagliflozin in Type 2 Diabetes Unknown status NCT02372955 Phase 4
25 The INDORSE Study: Inhibition of Dipeptidyl Peptidase IV: Outcomes on Renal Sodium Excretion Unknown status NCT02406443 Phase 4
26 Intensive Medical Treatment for Nephropathy Caused by Type 2 Diabetes With Hypertension Unknown status NCT00407680 Phase 4
27 Efficacy and Safety of Ursodeoxycholic Acid (UDCA) Added to the DPP-4 Inhibitor in People With Type 2 Diabetes and Chronic Liver Diseases Unknown status NCT01337440 Phase 4
28 A Study on Ca Blocker Versus AII Antagonists in Hypertension With Type 2 Diabetes Unknown status NCT00144144 Phase 4
29 Effect on Beta Cell Function and Glycaemic Control After Insulin and Exenatide Sequential Therapy Unknown status NCT02129985 Phase 4
30 Effect of Linagliptin in Comparison With Glimepiride as Add on to Metformin on Postprandial Beta Cell Function, Postprandial Metabolism and Oxidative Stress in Patients With Type 2 Diabetes Mellitus Unknown status NCT01547104 Phase 4
31 German Diabetes-Diet-Intervention and Energy Restriction-Trial (DDIET) Unknown status NCT01409330 Phase 4
32 Glucagon Like Peptides Receptors Expression in the Stomach of Diabetes Type 2 Unknown status NCT00473733 Phase 4
33 Study of Combination Therapy of Gliclazide MR and Basal Insulin Versus Insulin Monotherapy to Treat Type 2 Diabetes Unknown status NCT00736515 Phase 4
34 Ramipril and Clopidogrel in Oxidative Stress, Vascular Inflammation and Endothelial Dysfunction in Type 2 Diabetes and Diabetic Nephropathy Unknown status NCT01743014 Phase 4
35 Comparison of Pioglitazone Versus Glimepiride in Type 2 Diabetes Inadequately Controlled With Metformin Plus Alogliptin Unknown status NCT02426294 Phase 4
36 Safety of Add on Aliskiren to Angiotensin Converting Enzyme Inhibitor (ACEI) and Angiotensin I Receptor Blocker (ARB) Treatment in Type 2 Diabetes With Nephropathy Unknown status NCT00949351 Phase 4
37 Chronic Treatment With Benfotiamine Restores Endothelial Function in People With Type 2 Diabetes Mellitus Unknown status NCT00446810 Phase 4
38 Investigation of a Switch From Insulin Therapy to a Metformin & Saxagliptin Combination in Patients With Type 2 Diabetes Mellitus Unknown status NCT01206647 Phase 4
39 Substitution of First Phase Insulin Response in Patient With Type 2 Diabetes. Unknown status NCT00254085 Phase 4
40 A Double-Blind, Randomized, Parallel, Comparative Study to Evaluate the Efficacy and Safety of an Antidiabetic Agent Repaglinide for the Treatment of Type 2 Diabetes Mellitus Patients Unknown status NCT00336310 Phase 4
41 Aliskiren Versus Ramipril on Antiproteinuric Effect in Hypertensive, Type 2 Diabetic Patients With Microalbuminuria Unknown status NCT01038895 Phase 4
42 Various Insulin Regimens for Diabetic Inpatients With Cirrhosis Trial Unknown status NCT01143948 Phase 4
43 Short-Term Alpha Lipoic Acid Therapy for Prevention of Contrast-induced Acute Kidney Injury and Endothelial Dysfunction in Type 2 Diabetes Unknown status NCT01978405 Phase 4
44 Nephropathy In Type 2 Diabetes and Cardio-renal Events Unknown status NCT00535925 Phase 4
45 Growth Hormone Feedback to Insulin-like Growth Factor-I (IGF-1) and Oral Glucose Tolerance Test (OGTT) Unknown status NCT00915954 Phase 4
46 Prospective Influence of Bedtime Insulin Glargine on Mobilization and Function of Endothelial Progenitor Cells Unknown status NCT00523393 Phase 4
47 the Efficacy of Acarbose and Metformin on Blood Glucose Fluctuation When Combined With Premix Insulin Unknown status NCT02438397 Phase 4
48 Effects of Vildagliptin Versus Glibenclamide on Glycemia After Exercise in Patients With Type 2 Diabetes Unknown status NCT01867502 Phase 4
49 Effect of Pentoxifylline on Proteinuria in Korean Type 2 Diabetic Patients Unknown status NCT01382303 Phase 4
50 Effects of Valsartan and Aliskiren on Hemostatic Indices in Hypertensive Diabetics Unknown status NCT01095822 Phase 4

Search NIH Clinical Center for Mody, Type Ii

Genetic Tests for Mody, Type Ii

Genetic tests related to Mody, Type Ii:

id Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 2 29
2 Maturity-Onset Diabetes of the Young Type 2 24 GCK

Anatomical Context for Mody, Type Ii

MalaCards organs/tissues related to Mody, Type Ii:

39
Testes

Publications for Mody, Type Ii

Variations for Mody, Type Ii

UniProtKB/Swiss-Prot genetic disease variations for Mody, Type Ii:

66 (show top 50) (show all 52)
id 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
48 GCK p.Arg191Trp VAR_078249
49 GCK p.Gly223Ser VAR_078251
50 GCK p.Ala378Thr VAR_078254

ClinVar genetic disease variations for Mody, Type Ii:

6 (show top 50) (show all 102)
id 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.683C> T (p.Thr228Met) single nucleotide variant Pathogenic rs80356655 GRCh37 Chromosome 7, 44187429: 44187429
3 GCK NM_000162.3(GCK): c.781G> A (p.Gly261Arg) single nucleotide variant Pathogenic rs104894008 GRCh37 Chromosome 7, 44187331: 44187331
4 GCK NM_000162.3(GCK): c.895G> C (p.Gly299Arg) single nucleotide variant Pathogenic rs104894009 GRCh37 Chromosome 7, 44186186: 44186186
5 GCK GCK, IVS4DS, 15-BP DEL deletion Pathogenic
6 GCK NM_000162.3(GCK): c.391T> C (p.Ser131Pro) single nucleotide variant Pathogenic rs104894010 GRCh37 Chromosome 7, 44190647: 44190647
7 GCK NM_000162.3(GCK): c.793G> T (p.Glu265Ter) single nucleotide variant Pathogenic rs104894011 GRCh37 Chromosome 7, 44187319: 44187319
8 GCK NM_000162.3(GCK): c.629T> A (p.Met210Lys) single nucleotide variant Pathogenic rs80356654 GRCh37 Chromosome 7, 44189409: 44189409
9 GCK NM_000162.3(GCK): c.1132G> A (p.Ala378Thr) single nucleotide variant Pathogenic rs104894016 GRCh37 Chromosome 7, 44185217: 44185217
10 GCK NM_000162.3(GCK): c.1130G> A (p.Arg377His) single nucleotide variant Likely pathogenic rs193922264 GRCh38 Chromosome 7, 44145620: 44145620
11 GCK NM_000162.3(GCK): c.1002_1003delCGinsAA (p.Phe334_Val335delinsLeuMet) indel Likely pathogenic rs193922252 GRCh37 Chromosome 7, 44186078: 44186079
12 GCK NM_000162.3(GCK): c.1003_1004insAA (p.Val335Glufs) insertion Likely pathogenic rs193922253 GRCh37 Chromosome 7, 44186077: 44186078
13 GCK NM_000162.3(GCK): c.1003delG (p.Val335Cysfs) deletion Pathogenic/Likely pathogenic rs193922254 GRCh37 Chromosome 7, 44186078: 44186078
14 GCK NM_000162.3(GCK): c.1018A> G (p.Ser340Gly) single nucleotide variant Likely pathogenic rs193922255 GRCh37 Chromosome 7, 44186063: 44186063
15 GCK NM_000162.3(GCK): c.1020-1G> C single nucleotide variant Likely pathogenic rs193922258 GRCh37 Chromosome 7, 44185330: 44185330
16 GCK NM_000162.3(GCK): c.103A> T (p.Arg35Ter) single nucleotide variant Likely pathogenic rs193922259 GRCh37 Chromosome 7, 44193005: 44193005
17 GCK NM_000162.3(GCK): c.1042A> T (p.Ile348Phe) single nucleotide variant Likely pathogenic rs193922260 GRCh37 Chromosome 7, 44185307: 44185307
18 GCK NM_000162.3(GCK): c.107G> C (p.Arg36Pro) single nucleotide variant Likely pathogenic rs193922261 GRCh37 Chromosome 7, 44193001: 44193001
19 GCK NM_000162.3(GCK): c.1114G> T (p.Glu372Ter) single nucleotide variant Likely pathogenic rs193922262 GRCh37 Chromosome 7, 44185235: 44185235
20 GCK NM_000162.3(GCK): c.1124C> T (p.Ser375Phe) single nucleotide variant Likely pathogenic rs193922263 GRCh37 Chromosome 7, 44185225: 44185225
21 GCK NM_000162.3(GCK): c.1136C> A (p.Ala379Glu) single nucleotide variant Likely pathogenic rs193922265 GRCh37 Chromosome 7, 44185213: 44185213
22 GCK NM_000162.3(GCK): c.1142T> G (p.Met381Arg) single nucleotide variant Likely pathogenic rs193922266 GRCh37 Chromosome 7, 44185207: 44185207
23 GCK NM_000162.3(GCK): c.1153G> A (p.Gly385Arg) single nucleotide variant Likely pathogenic rs193922267 GRCh37 Chromosome 7, 44185196: 44185196
24 GCK NM_000162.3(GCK): c.1157T> C (p.Leu386Pro) single nucleotide variant Likely pathogenic rs193922268 GRCh37 Chromosome 7, 44185192: 44185192
25 GCK NM_000162.3(GCK): c.1160C> A (p.Ala387Glu) single nucleotide variant Likely pathogenic rs193921338 GRCh37 Chromosome 7, 44185189: 44185189
26 GCK NM_000162.3(GCK): c.1160C> T (p.Ala387Val) single nucleotide variant Likely pathogenic rs193921338 GRCh37 Chromosome 7, 44185189: 44185189
27 GCK NM_000162.3(GCK): c.1169T> A (p.Ile390Asn) single nucleotide variant Likely pathogenic rs193921340 GRCh37 Chromosome 7, 44185180: 44185180
28 GCK NM_000162.3(GCK): c.1169T> C (p.Ile390Thr) single nucleotide variant Likely pathogenic rs193921340 GRCh37 Chromosome 7, 44185180: 44185180
29 GCK NM_000162.3(GCK): c.1175G> T (p.Arg392Leu) single nucleotide variant Likely pathogenic rs193922269 GRCh37 Chromosome 7, 44185174: 44185174
30 GCK NM_000162.3(GCK): c.1207C> G (p.Arg403Gly) single nucleotide variant Likely pathogenic rs193922271 GRCh37 Chromosome 7, 44185142: 44185142
31 GCK NM_000162.3(GCK): c.1240A> G (p.Lys414Glu) single nucleotide variant Likely pathogenic rs193922272 GRCh37 Chromosome 7, 44185109: 44185109
32 GCK NM_000162.3(GCK): c.1268T> A (p.Phe423Tyr) single nucleotide variant Likely pathogenic rs193922273 GRCh37 Chromosome 7, 44184865: 44184865
33 GCK NM_000162.3(GCK): c.1279_1358del80insTTACA (p.Val427_Ser453delinsLeuGln) indel Likely pathogenic rs193922274 GRCh37 Chromosome 7, 44184775: 44184854
34 GCK NM_000162.3(GCK): c.1283_1284delGC (p.Arg428Glnfs) deletion Likely pathogenic rs193922275 GRCh37 Chromosome 7, 44184849: 44184850
35 GCK NM_000162.3(GCK): c.1289T> C (p.Leu430Pro) single nucleotide variant Likely pathogenic rs193922277 GRCh37 Chromosome 7, 44184844: 44184844
36 GCK NM_000162.3(GCK): c.1307T> A (p.Ile436Asn) single nucleotide variant Likely pathogenic rs193922278 GRCh37 Chromosome 7, 44184826: 44184826
37 GCK NM_000162.3(GCK): c.131G> A (p.Gly44Asp) single nucleotide variant Likely pathogenic rs193922279 GRCh37 Chromosome 7, 44192977: 44192977
38 GCK NM_000162.3(GCK): c.1332delC (p.Ser445Valfs) deletion Likely pathogenic rs193922280 GRCh37 Chromosome 7, 44184801: 44184801
39 GCK NM_000162.3(GCK): c.1339C> G (p.Arg447Gly) single nucleotide variant Likely pathogenic rs193922281 GRCh37 Chromosome 7, 44184794: 44184794
40 GCK NM_000162.3(GCK): c.1345G> A (p.Ala449Thr) single nucleotide variant Likely pathogenic rs193922282 GRCh37 Chromosome 7, 44184788: 44184788
41 GCK NM_000162.3(GCK): c.1358C> T (p.Ser453Leu) single nucleotide variant Likely pathogenic rs193922283 GRCh37 Chromosome 7, 44184775: 44184775
42 GCK NM_000162.3(GCK): c.1372_1373delAA (p.Lys458Glufs) deletion Likely pathogenic rs193922284 GRCh37 Chromosome 7, 44184760: 44184761
43 GCK NM_000162.3(GCK): c.1386G> T (p.Met462Ile) single nucleotide variant Likely pathogenic rs193922285 GRCh37 Chromosome 7, 44184747: 44184747
44 GCK p.X466Trp single nucleotide variant Likely pathogenic
45 GCK NM_000162.3(GCK): c.146C> A (p.Thr49Asn) single nucleotide variant Likely pathogenic rs193922286 GRCh37 Chromosome 7, 44192962: 44192962
46 GCK NM_000162.3(GCK): c.175C> T (p.Pro59Ser) single nucleotide variant Likely pathogenic rs193922287 GRCh37 Chromosome 7, 44192933: 44192933
47 GCK NM_000162.3(GCK): c.214G> A (p.Gly72Arg) single nucleotide variant Pathogenic rs193922289 GRCh37 Chromosome 7, 44192019: 44192019
48 GCK NM_000162.3(GCK): c.253A> T (p.Arg85Trp) single nucleotide variant Likely pathogenic rs193922290 GRCh37 Chromosome 7, 44191980: 44191980
49 GCK NM_000162.3(GCK): c.304A> T (p.Lys102Ter) single nucleotide variant Likely pathogenic rs193922291 GRCh37 Chromosome 7, 44191929: 44191929
50 GCK NM_000162.3(GCK): c.322T> G (p.Tyr108Asp) single nucleotide variant Likely pathogenic rs193922292 GRCh37 Chromosome 7, 44191911: 44191911

Expression for Mody, Type Ii

Search GEO for disease gene expression data for Mody, Type Ii.

Pathways for Mody, Type Ii

GO Terms for Mody, Type Ii

Sources for Mody, Type Ii

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