MODY3
MCID: MDY004
MIFTS: 34

Mody, Type Iii (MODY3) malady

Categories: Genetic diseases, Rare diseases, Liver diseases

Aliases & Classifications for Mody, Type Iii

Aliases & Descriptions for Mody, Type Iii:

Name: Mody, Type Iii 54 13 38
Mody3 12 50 24 66
Mody Type 3 12 50 66
Maturity-Onset Diabetes of the Young, Type 3 50 69
Maturity-Onset Diabetes of the Young Type 3 12 24
Maturity-Onset Diabetes of the Young 3 66 29
Mody Hepatocyte Nuclear Factor-1-Alpha Related 50
Maturity-Onset Diabetes of the Young Type Iii 24
Type 3 Maturity-Onset Diabetes of the Young 50
Diabetes Mellitus, Mody Type 3 24
Diabetes Mellitus Mody Type 3 50
Mody-3 66

Characteristics:

HPO:

32
mody, type iii:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM 54 600496
Disease Ontology 12 DOID:0111102
MedGen 40 C1838100
MeSH 42 D003924

Summaries for Mody, Type Iii

UniProtKB/Swiss-Prot : 66 Maturity-onset diabetes of the young 3: 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.

MalaCards based summary : Mody, Type Iii, also known as mody3, is related to maturity-onset diabetes of the young and pancreatitis, and has symptoms including type ii diabetes mellitus, hyperglycemia and maturity-onset diabetes of the young. An important gene associated with Mody, Type Iii is HNF1A (HNF1 Homeobox A). The drugs Cilostazol and Exenatide have been mentioned in the context of this disorder.

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in mutation in the HNF1A gene on chromosome 12q24.31.

Description from OMIM: 600496

Related Diseases for Mody, Type Iii

Diseases related to Mody, Type Iii 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 pancreatitis 10.1
3 hypoglycemia 9.9
4 hepatitis 9.9
5 lymphoma 9.9

Graphical network of the top 20 diseases related to Mody, Type Iii:



Diseases related to Mody, Type Iii

Symptoms & Phenotypes for Mody, Type Iii

Symptoms by clinical synopsis from OMIM:

600496

Clinical features from OMIM:

600496

Human phenotypes related to Mody, Type Iii:

32
id Description HPO Frequency HPO Source Accession
1 type ii diabetes mellitus 32 HP:0005978
2 hyperglycemia 32 HP:0003074
3 maturity-onset diabetes of the young 32 HP:0004904

Drugs & Therapeutics for Mody, Type Iii

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

(show top 50) (show all 379)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cilostazol Approved Phase 4 73963-72-1 2754
2
Exenatide Approved, Investigational Phase 4,Phase 3 141758-74-9 15991534
3
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 657-24-9 14219 4091
4
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
5
Alogliptin Approved Phase 4,Phase 3 850649-61-5 11450633
6
Glimepiride Approved Phase 4,Phase 3,Phase 2,Phase 1 93479-97-1 3476
7
Pioglitazone Approved, Investigational Phase 4,Phase 3,Phase 2 111025-46-8 4829
8
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
9
Ethanol Approved Phase 4 64-17-5 702
10
Zinc Approved Phase 4,Phase 3,Phase 1,Early Phase 1 7440-66-6 32051 23994
11
Acarbose Approved, Investigational Phase 4,Phase 3,Early Phase 1 56180-94-0 441184
12
Menthol Approved Phase 4,Phase 3 2216-51-5 16666
13
Insulin Glargine Approved Phase 4,Phase 3,Phase 2,Early Phase 1 160337-95-1
14
Pitavastatin Approved Phase 4 147511-69-1, 147526-32-7 6366718 5282452
15
Vildagliptin Approved, Investigational Phase 4,Phase 2,Phase 3 274901-16-5 6918537
16
Gliclazide Approved Phase 4,Phase 3,Early Phase 1 21187-98-4 3475
17
Repaglinide Approved, Investigational Phase 4,Phase 3 135062-02-1 65981
18
Liraglutide Approved Phase 4,Phase 2,Phase 3,Phase 1 204656-20-2
19
Insulin Lispro Approved Phase 4 133107-64-9
20
Nitazoxanide Approved, Investigational, Vet_approved Phase 4 55981-09-4 41684
21
Ribavirin Approved Phase 4 36791-04-5 37542
22
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
23
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
24
Saxagliptin Approved Phase 4,Phase 3,Phase 2,Phase 1 361442-04-8 11243969
25
Amlodipine Approved Phase 4 88150-42-9 2162
26
Candesartan Approved Phase 4 139481-59-7 2541
27
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
28
Dopamine Approved Phase 4,Phase 3 51-61-6, 62-31-7 681
29
Olanzapine Approved, Investigational Phase 4,Phase 3 132539-06-1 4585
30
Ziprasidone Approved Phase 4 146939-27-7 60854
31
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1 1994-09-7, 94-09-7 2337
32
Insulin Aspart Approved Phase 4,Phase 3,Early Phase 1 116094-23-6 16132418
33
Lisinopril Approved, Investigational Phase 4 83915-83-7 5362119
34
Ezetimibe Approved Phase 4,Phase 3 163222-33-1 150311
35
Mitiglinide Approved, Investigational Phase 4,Phase 3 145375-43-5 3047758
36
Rosiglitazone Approved, Investigational Phase 4,Phase 3,Phase 2 122320-73-4 77999
37
Simvastatin Approved Phase 4,Phase 3 79902-63-9 54454
38
Methyltestosterone Approved Phase 4,Phase 2 58-18-4 6010
39
Testosterone Approved, Investigational Phase 4,Phase 2 58-22-0 6013
40
Mirabegron Approved Phase 4 223673-61-8
41
Canagliflozin Approved Phase 4,Phase 3 842133-18-0
42
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
43
Bisoprolol Approved Phase 4 66722-44-9 2405
44
Captopril Approved Phase 4 62571-86-2 44093
45
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
46
Cilazapril Approved Phase 4 88768-40-5, 92077-78-6 56329 56330
47
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
48
Enalaprilat Approved Phase 4 76420-72-9 6917719
49
Eprosartan Approved Phase 4 133040-01-4 5281037
50
Fosinopril Approved Phase 4 98048-97-6 55891

Interventional clinical trials:

(show top 50) (show all 426)
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 Comparison the Treatment Effect Between Gastric Bypass and Exenatide in Type 2 Diabetes Unknown status NCT01435980 Phase 4
4 Effects of Valsartan and Aliskiren on Hemostatic Indices in Hypertensive Diabetics Unknown status NCT01095822 Phase 4
5 Bone Turnover in Type 2 Diabetes Patients Unknown status NCT00732121 Phase 4
6 Comparison of Pioglitazone Versus Glimepiride in Type 2 Diabetes Inadequately Controlled With Metformin Plus Alogliptin Unknown status NCT02426294 Phase 4
7 Atorvastatin, Aspirin, Oxidative Stress, Coagulation and Platelet Activation Indexes Unknown status NCT01322711 Phase 4
8 German Diabetes-Diet-Intervention and Energy Restriction-Trial (DDIET) Unknown status NCT01409330 Phase 4
9 Effect on Beta Cell Function and Glycaemic Control After Insulin and Exenatide Sequential Therapy Unknown status NCT02129985 Phase 4
10 Phenotypic and Genetic Correlates of Diabetes (Non-Type 1) in Young Non-Obese Asian Indians in North India and A Study to Evaluate the Efficacy of Sitagliptin (DPP-4 Inhibitor) in a Sub-group of the Study Population Completed NCT00964184 Phase 4
11 Optimal Oral Hypoglycaemic Agents (OHA) for Combination With Insulin Glargine (Sulfonylurea vs. Metformin) Completed NCT00708578 Phase 4
12 Efficacy and Safety Study of Pitavastatin Compared to atoRvastatin in Type 2 dIabeTes Mellitus With Hypercholesterolemia Completed NCT00889226 Phase 4
13 Effectiveness of PRECEDE Model for Health Education on Changes and Level of Control in Patients With Type 2 Diabetes Mellitus Completed NCT01316367 Phase 4
14 Effect of Vildagliptin on Left Ventricular Function in Patients With Type 2 Diabetes and Congestive Heart Failure Completed NCT00894868 Phase 4
15 A Study of the Safety and Efficacy of Glimepiride, Gliclazide, Repaglinide or Acarbose When Added to Sitagliptin + Metformin Combination Therapy in Chinese Participants With Diabetes (MK-0431-313) Completed NCT01709305 Phase 4
16 Sitagliptin in Combination With Metformin and Sulfonylurea Completed NCT00686634 Phase 4
17 Antidiabetic Effects on Intrahepatic Fat Completed NCT03068065 Phase 4
18 The Effect of Exenatide Compared to Lantus Insulin on Vascular Function in Type 2 Diabetes Completed NCT00353834 Phase 4
19 Glargine Versus NPH in Patients With Chronic Kidney Disease Completed NCT02451917 Phase 4
20 A Study for Type 2 Diabetic Patients Completed NCT00548808 Phase 4
21 The Role Of Nitazoxanide, Interferon Alfa And Ribavirin In Treatment Of Hepatitis C Infected Type 2 Diabetic Patients Completed NCT01770483 Phase 4
22 Type 2 Diabetes Evaluation of Ranolazine in Subjects With Chronic Stable Angina Completed NCT01425359 Phase 4
23 Does Saxagliptin Reduce the Risk of Cardiovascular Events When Used Alone or Added to Other Diabetes Medications Completed NCT01107886 Phase 4
24 A Randomized, Double-Blind, Active Control Trial Comparing Effects of Telmisartan, Candesartan and Amlodipine, Alone or Plus Metformin, on Non-Diabetic, Obese Hypertensive Patients Completed NCT00538486 Phase 4
25 Lantus Versus NPH: Comparison in Insulin Naive People Not Adequately Controlled With at Least One Oral Anti Diabetics (OAD) Treatment Completed NCT00949442 Phase 4
26 Ziprasidone Versus Olanzapine In The Treatment Of Schizophrenia. Completed NCT00239109 Phase 4
27 Lifestyle Intervention to Limit Excessive Weight Gain During Pregnancy in Minority Women Completed NCT01084941 Phase 4
28 Rosuvastatin Prevent Contrast Induced Acute Kidney Injury in Patients With Diabetes Completed NCT00786136 Phase 4
29 Mirabegron and Brown Adipose Tissue Recruiting NCT03012113 Phase 4
30 Metformin for Ectopic Fat Deposition and Metabolic Markers in Polycystic Ovary Syndrome (PCOS) Recruiting NCT02500147 Phase 4
31 Diabetes Interventional Assessment of Slimming or Training to Lessen Inconspicuous Cardiovascular Dysfunction Recruiting NCT02590822 Phase 4
32 Assessment Study of Three Different Fasting Plasma Glucose Targets in Chinese Patients With Type 2 Diabetes Mellitus (BEYOND III/FPG GOAL) Recruiting NCT02545842 Phase 4
33 TriMaster: Study of a DPP4 Inhibitor, SGLT2 Inhibitor and Thiazolidinedione as Third Line Therapy in Patients With Type 2 Diabetes. Recruiting NCT02653209 Phase 4
34 Comparison of Glycaemic Fluctuation and Oxidative Stress Between Two Short-term Therapies for Type 2 Diabetes Recruiting NCT02526810 Phase 4
35 Insulin Resistance and Mild Cognitive Impairment (IRMCI) Study Recruiting NCT02409238 Phase 4
36 Par-4 and Telomere-telomerase System in Type 2 Diabetes Patients Who Received GLP-1 or Metformin Treatment Recruiting NCT02535299 Phase 4
37 Effects of Combined Dapagliflozin and Exenatide Versus Dapagliflozin and Placebo on Ectopic Lipids in Patients With Uncontrolled Type 2 Diabetes Mellitus. Recruiting NCT03007329 Phase 4
38 Chronotherapy With Low-dose Aspirin for Primary Prevention Recruiting NCT00725127 Phase 4
39 ß-Cell Function and Glycemic Control in Newly Diagnosed Type 2 Diabetic Patients With Moderate Hyperglycemia Recruiting NCT01717911 Phase 4
40 Efficacy Study of Liraglutide vs.Sitagliptin vs. Glargine on Liver Fat in T2DM Subjects Recruiting NCT02147925 Phase 4
41 Effects on Re-endothelialisation With Bydureon Treatment in Type 2 Diabetes Subjects Recruiting NCT02621489 Phase 4
42 Effect of Berberine Versus Metformin on Glycemic Control, Insulin Sensitivity and Insulin Secretion in Prediabetes Recruiting NCT03029390 Phase 4
43 Effect of Liraglutide (Victoza) on Inflammation in Human Adipose Tissue and Blood Recruiting NCT02650206 Phase 4
44 NT-proBNP Selected Prevention of Cardiac Events in Diabetic Patients Recruiting NCT02817360 Phase 4
45 Efficacy and Safety of Alirocumab Versus Usual Care on Top of Maximally Tolerated Statin Therapy in Patients With Type 2 Diabetes and Mixed Dyslipidemia (ODYSSEY DM-Dyslipidemia) Active, not recruiting NCT02642159 Phase 4
46 Effects of Incretin on the Blood Pressure and Lipid in Patients With Overweight or Obese Diabetes Active, not recruiting NCT02503943 Phase 4
47 Acarbose Cardiovascular Evaluation Trial Active, not recruiting NCT00829660 Phase 4
48 Autoimmune Diabetes Accelerator Prevention Trial Enrolling by invitation NCT02881528 Phase 4
49 Effect of aSpirin Versus CilOstazol for Inhibition of Antiplatelet aggRegaTion in Type 2 DM Patients Not yet recruiting NCT02933788 Phase 4
50 A Clinical Trial Analyzing Effects of Prokinetic Drug on the Blood Glucose in Patients With Type 2 Diabetes Not yet recruiting NCT02606617 Phase 4

Search NIH Clinical Center for Mody, Type Iii

Genetic Tests for Mody, Type Iii

Genetic tests related to Mody, Type Iii:

id Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 3 29
2 Maturity-Onset Diabetes of the Young Type 3 24 HNF1A

Anatomical Context for Mody, Type Iii

Publications for Mody, Type Iii

Variations for Mody, Type Iii

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

66 (show all 36)
id Symbol AA change Variation ID SNP ID
1 HNF1A p.Tyr122Cys VAR_003756
2 HNF1A p.Ser142Phe VAR_003757
3 HNF1A p.Arg159Gln VAR_003758
4 HNF1A p.Arg272His VAR_003759
5 HNF1A p.Pro447Leu VAR_003760
6 HNF1A p.Leu12His VAR_010537
7 HNF1A p.Gly31Asp VAR_010538
8 HNF1A p.Leu107Arg VAR_010541
9 HNF1A p.Lys117Glu VAR_010542
10 HNF1A p.Ile128Asn VAR_010543
11 HNF1A p.Pro129Thr VAR_010544
12 HNF1A p.Arg131Gln VAR_010545
13 HNF1A p.Arg131Trp VAR_010546
14 HNF1A p.Val133Met VAR_010547
15 HNF1A p.His143Tyr VAR_010548
16 HNF1A p.Lys158Asn VAR_010549
17 HNF1A p.Arg159Trp VAR_010550
18 HNF1A p.Ala161Thr VAR_010551
19 HNF1A p.Arg203Cys VAR_010554
20 HNF1A p.Lys205Gln VAR_010555
21 HNF1A p.Arg229Gln VAR_010556
22 HNF1A p.Cys241Gly VAR_010557
23 HNF1A p.Val259Asp VAR_010559
24 HNF1A p.Thr260Met VAR_010560
25 HNF1A p.Arg263Cys VAR_010561
26 HNF1A p.Arg271Trp VAR_010562
27 HNF1A p.Pro519Leu VAR_010567
28 HNF1A p.Thr537Arg VAR_010568
29 HNF1A p.Ser594Ile VAR_010571
30 HNF1A p.Glu619Lys VAR_010572
31 HNF1A p.Thr620Ile VAR_010573
32 HNF1A p.Gly20Arg VAR_012483
33 HNF1A p.Arg203His VAR_012484
34 HNF1A p.Ser432Cys VAR_012485
35 HNF1A p.Ile618Met VAR_012486
36 HNF1A p.Arg200Trp VAR_063069

ClinVar genetic disease variations for Mody, Type Iii:

6 (show all 40)
id Gene Variation Type Significance SNP ID Assembly Location
1 HNF1A NM_000545.6(HNF1A): c.872dupC (p.Gly292Argfs) duplication Pathogenic rs587776825 GRCh37 Chromosome 12, 121432125: 121432125
2 HNF1A NM_000545.6(HNF1A): c.1340C> T (p.Pro447Leu) single nucleotide variant Pathogenic rs137853236 GRCh37 Chromosome 12, 121435307: 121435307
3 HNF1A HNF1A, 1-BP DEL deletion Pathogenic
4 HNF1A NM_000545.6(HNF1A): c.365A> G (p.Tyr122Cys) single nucleotide variant Pathogenic rs137853237 GRCh37 Chromosome 12, 121426674: 121426674
5 HNF1A NM_000545.6(HNF1A): c.1747C> G (p.Arg583Gly) single nucleotide variant Pathogenic rs137853239 GRCh37 Chromosome 12, 121437409: 121437409
6 HNF1A HNF1A, A-C, -58 single nucleotide variant Pathogenic
7 HNF1A NM_000545.6(HNF1A): c.1859C> T (p.Thr620Ile) single nucleotide variant Pathogenic rs137853241 GRCh37 Chromosome 12, 121438958: 121438958
8 HNF1A HNF1A, 1-BP DEL, -119G deletion Pathogenic
9 HNF1A HNF1A, IVS3, G-A, -1 single nucleotide variant Pathogenic
10 HNF1A NM_000545.6(HNF1A): c.335C> T (p.Pro112Leu) single nucleotide variant Pathogenic rs137853243 GRCh37 Chromosome 12, 121426644: 121426644
11 HNF1A NM_000545.6(HNF1A): c.391C> T (p.Arg131Trp) single nucleotide variant Pathogenic rs137853244 GRCh37 Chromosome 12, 121426700: 121426700
12 HNF1A HNF1A, 4-BP DEL deletion Pathogenic
13 HNF1A NM_000545.6(HNF1A): c.827C> A (p.Ala276Asp) single nucleotide variant Pathogenic rs137853245 GRCh37 Chromosome 12, 121432080: 121432080
14 HNF1A HNF1A, 2-BP DEL, AG deletion Pathogenic
15 HNF1A NM_000545.6(HNF1A): c.1592G> C (p.Ser531Thr) single nucleotide variant Pathogenic rs137853246 GRCh37 Chromosome 12, 121437161: 121437161
16 HNF1A NM_000545.6(HNF1A): c.92G> A (p.Gly31Asp) single nucleotide variant Pathogenic rs137853247 GRCh37 Chromosome 12, 121416663: 121416663
17 HNF1A NM_000545.6(HNF1A): c.1129delC (p.Leu377Serfs) deletion Likely pathogenic rs193922576 GRCh37 Chromosome 12, 121434365: 121434365
18 HNF1A NM_000545.6(HNF1A): c.1265T> C (p.Leu422Pro) single nucleotide variant Likely pathogenic rs193922577 GRCh37 Chromosome 12, 121434501: 121434501
19 HNF1A NM_000545.6(HNF1A): c.130delC (p.Leu44Trpfs) deletion Pathogenic rs193922578 GRCh37 Chromosome 12, 121416701: 121416701
20 HNF1A NM_000545.6(HNF1A): c.1424C> T (p.Pro475Leu) single nucleotide variant Likely pathogenic rs193922580 GRCh37 Chromosome 12, 121435391: 121435391
21 HNF1A NM_000545.6(HNF1A): c.1506_1507dupCT (p.Tyr503Serfs) duplication Likely pathogenic rs193922582 GRCh37 Chromosome 12, 121437075: 121437076
22 HNF1A NM_000545.6(HNF1A): c.1663C> T (p.Leu555Phe) single nucleotide variant Likely pathogenic rs193922587 GRCh37 Chromosome 12, 121437325: 121437325
23 HNF1A NM_000545.6(HNF1A): c.169delC (p.Leu57Trpfs) deletion Likely pathogenic rs193922588 GRCh37 Chromosome 12, 121416740: 121416740
24 HNF1A NM_000545.6(HNF1A): c.1745A> G (p.His582Arg) single nucleotide variant Likely pathogenic rs193922589 GRCh37 Chromosome 12, 121437407: 121437407
25 HNF1A NM_000545.6(HNF1A): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs193922592 GRCh37 Chromosome 12, 121416572: 121416572
26 HNF1A NM_000545.6(HNF1A): c.281C> T (p.Pro94Leu) single nucleotide variant Likely pathogenic rs193922593 GRCh37 Chromosome 12, 121416852: 121416852
27 HNF1A NM_000545.6(HNF1A): c.313dupG (p.Glu105Glyfs) duplication Likely pathogenic rs193922594 GRCh37 Chromosome 12, 121416884: 121416884
28 HNF1A NM_000545.6(HNF1A): c.375_377dupGCA (p.Gln125_His126insGln) duplication Likely pathogenic rs193922596 GRCh37 Chromosome 12, 121426684: 121426686
29 HNF1A NM_000545.6(HNF1A): c.441C> A (p.His147Gln) single nucleotide variant Likely pathogenic rs193922597 GRCh37 Chromosome 12, 121426750: 121426750
30 HNF1A NM_000545.6(HNF1A): c.467C> T (p.Thr156Met) single nucleotide variant Likely pathogenic rs150513055 GRCh37 Chromosome 12, 121426776: 121426776
31 HNF1A NM_000545.6(HNF1A): c.518_526+37del46 deletion Likely pathogenic rs386134267 GRCh37 Chromosome 12, 121426827: 121426872
32 HNF1A NM_000545.5(HNF1A): c.598C> T (p.Arg200Trp) single nucleotide variant Likely pathogenic rs193922598 GRCh37 Chromosome 12, 121431394: 121431394
33 HNF1A NM_000545.6(HNF1A): c.666_668delGAA (p.Lys222del) deletion Likely pathogenic rs193922599 GRCh37 Chromosome 12, 121431462: 121431464
34 HNF1A NM_000545.6(HNF1A): c.670C> T (p.Pro224Ser) single nucleotide variant Likely pathogenic rs193922600 GRCh37 Chromosome 12, 121431466: 121431466
35 HNF1A NM_000545.6(HNF1A): c.731G> T (p.Arg244Ile) single nucleotide variant Likely pathogenic rs193922602 GRCh37 Chromosome 12, 121431984: 121431984
36 HNF1A NM_000545.6(HNF1A): c.734G> T (p.Gly245Val) single nucleotide variant Likely pathogenic rs193922603 GRCh37 Chromosome 12, 121431987: 121431987
37 HNF1A NM_000545.6(HNF1A): c.790G> T (p.Val264Phe) single nucleotide variant Likely pathogenic rs193922604 GRCh37 Chromosome 12, 121432043: 121432043
38 HNF1A NM_000545.6(HNF1A): c.803T> C (p.Phe268Ser) single nucleotide variant Likely pathogenic rs193922605 GRCh37 Chromosome 12, 121432056: 121432056
39 HNF1A NM_000545.6(HNF1A): c.827C> G (p.Ala276Gly) single nucleotide variant Likely pathogenic rs137853245 GRCh37 Chromosome 12, 121432080: 121432080
40 HNF1A NM_000545.6(HNF1A): c.872C> G (p.Pro291Arg) single nucleotide variant Likely pathogenic rs193922606 GRCh37 Chromosome 12, 121432125: 121432125

Expression for Mody, Type Iii

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

Pathways for Mody, Type Iii

GO Terms for Mody, Type Iii

Sources for Mody, Type Iii

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