MCID: MDY004
MIFTS: 37

Mody, Type Iii

Categories: Genetic diseases, Rare diseases, Liver diseases

Aliases & Classifications for Mody, Type Iii

MalaCards integrated aliases for Mody, Type Iii:

Name: Mody, Type Iii 54 13 38
Mody3 12 50 24 71
Maturity-Onset Diabetes of the Young, Type 3 50 29 69
Mody Type 3 12 50 71
Maturity-Onset Diabetes of the Young Type 3 12 24
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
Maturity-Onset Diabetes of the Young 3 71
Diabetes Mellitus, Mody Type 3 24
Diabetes Mellitus Mody Type 3 50
Mody-3 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant (12q22-qter)


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 : 71 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 hyperglycemia, type ii diabetes mellitus and maturity-onset diabetes of the young. An important gene associated with Mody, Type Iii is HNF1A (HNF1 Homeobox A). The drugs Exenatide and Gliclazide have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and endothelial.

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 hepatitis 9.9
4 lymphoma 9.9
5 hypoglycemia 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 via clinical synopsis from OMIM:

54

Lab:
severe insulin secretory defect
hyperglycemia

Metabolic:
noninsulin-dependent diabetes mellitus
maturity-onset diabetes of the young (mody)

Misc:
early age of onset (under 25 years)


Clinical features from OMIM:

600496

Human phenotypes related to Mody, Type Iii:

32
id Description HPO Frequency HPO Source Accession
1 hyperglycemia 32 HP:0003074
2 type ii diabetes mellitus 32 HP:0005978
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 203)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Exenatide Approved, Investigational Phase 4,Phase 3 141758-74-9 15991534
2
Gliclazide Approved Phase 4,Phase 3,Early Phase 1 21187-98-4 3475
3
Insulin Glargine Approved Phase 4,Phase 3,Phase 2,Early Phase 1 160337-95-1
4
Insulin Lispro Approved Phase 4 133107-64-9
5
Metformin Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 657-24-9 14219 4091
6
Zinc Approved Phase 4,Phase 3,Phase 1,Early Phase 1 7440-66-6 32051 23994
7
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
8
Alogliptin Approved Phase 4,Phase 3 850649-61-5 11450633
9
Glimepiride Approved Phase 4,Phase 3,Phase 1 93479-97-1 3476
10
Pioglitazone Approved, Investigational Phase 4,Phase 3,Phase 2 111025-46-8 4829
11
Liraglutide Approved Phase 4,Phase 3,Phase 1 204656-20-2 44147092
12
Mitiglinide Approved, Investigational Phase 4,Phase 3 145375-43-5 3047758
13
Cilostazol Approved Phase 4 73963-72-1 2754
14
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
15
Thrombin Approved Phase 4
16
Ethanol Approved Phase 4 64-17-5 702
17
Acarbose Approved, Investigational Phase 4,Phase 3,Early Phase 1 56180-94-0 441184
18
Vildagliptin Approved, Investigational Phase 4,Phase 2,Phase 3 274901-16-5 6918537
19
Repaglinide Approved, Investigational Phase 4,Phase 3 135062-02-1 65981
20
Ezetimibe Approved Phase 4,Phase 3 163222-33-1 150311
21
Fenofibrate Approved Phase 4 49562-28-9 3339
22
Nitazoxanide Approved, Investigational, Vet_approved Phase 4 55981-09-4 41684
23
Ribavirin Approved Phase 4 36791-04-5 37542
24
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
25
Ranolazine Approved, Investigational Phase 4 142387-99-3, 95635-55-5 56959
26
Saxagliptin Approved Phase 4,Phase 3,Phase 2,Phase 1 361442-04-8 11243969
27
Amlodipine Approved Phase 4 88150-42-9 2162
28
Candesartan Approved Phase 4 139481-59-7 2541
29
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
30
Benzocaine Approved Phase 4,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
31
Insulin Aspart Approved Phase 4,Phase 3,Early Phase 1 116094-23-6 16132418
32
Linagliptin Approved Phase 4,Phase 3 668270-12-0 10096344
33
Rosiglitazone Approved, Investigational Phase 4,Phase 3,Phase 2 122320-73-4 77999
34
Simvastatin Approved Phase 4,Phase 3 79902-63-9 54454
35
Canagliflozin Approved Phase 4 842133-18-0
36
Guaifenesin Approved, Vet_approved Phase 4 93-14-1 3516
37
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
38
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3 59-30-3 6037
39
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
40
Nicotinamide Approved, Nutraceutical Phase 4 98-92-0 936
41 tannic acid Approved, Nutraceutical Phase 4,Phase 3,Phase 1
42
Angiotensin II Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
43
2,4-thiazolidinedione Investigational Phase 4,Phase 3 2295-31-0
44 Mosapride Investigational Phase 4 112885-41-3
45 Glucagon-Like Peptide 1 Phase 4,Phase 3,Phase 1
46 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
47 Hormones Phase 4,Phase 3,Phase 2,Phase 1
48 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1
49 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
50 Incretins Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 303)

id Name Status NCT ID Phase Drugs
1 Study of Comparison the Treatment Effect Between Gastric Bypass and Exenatide in Type 2 Diabetes Unknown status NCT01435980 Phase 4 Exenatide
2 Comparison of Glycaemic Fluctuation and Oxidative Stress Between Two Short-term Therapies for Type 2 Diabetes Unknown status NCT02526810 Phase 4 insulin lispro;Insulin Glargine
3 Effects of Valsartan and Aliskiren on Hemostatic Indices in Hypertensive Diabetics Unknown status NCT01095822 Phase 4 Aliskiren + Valsartan
4 Bone Turnover in Type 2 Diabetes Patients Unknown status NCT00732121 Phase 4 Sitagliptin;Placebo
5 Thyroid Study Type 2 Diabetes Mellitus (T2DM) Unknown status NCT01379170 Phase 4 Euthyrox (levothyroxine)
6 Comparison of Pioglitazone Versus Glimepiride in Type 2 Diabetes Inadequately Controlled With Metformin Plus Alogliptin Unknown status NCT02426294 Phase 4 Pioglitazone;Glimepiride
7 Effects of Incretin on the Blood Pressure and Lipid in Patients With Overweight or Obese Diabetes Unknown status NCT02503943 Phase 4 "Liraglutide" and "Mitiglinide";"Metformin" and "Mitiglinide";"Mitiglinide"
8 Effects of Cilostazol on Plasma Adipocytokine and Arterial Stiffness Unknown status NCT00573950 Phase 4 cilostazol;Placebo
9 Atorvastatin, Aspirin, Oxidative Stress, Coagulation and Platelet Activation Indexes Unknown status NCT01322711 Phase 4 Atorvastatin;Placebo
10 German Diabetes-Diet-Intervention and Energy Restriction-Trial (DDIET) Unknown status NCT01409330 Phase 4
11 Effectiveness of PRECEDE Model for Health Education on Changes and Level of Control in Patients With Type 2 Diabetes Mellitus Completed NCT01316367 Phase 4
12 Effect of Vildagliptin on Left Ventricular Function in Patients With Type 2 Diabetes and Congestive Heart Failure Completed NCT00894868 Phase 4 vildagliptin;placebo of vildagliptin
13 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 Metformin;Sitagliptin;Acarbose;Repaglinide;Glimepiride;Gliclazide
14 Sitagliptin in Combination With Metformin and Sulfonylurea Completed NCT00686634 Phase 4 Sitagliptin
15 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) Completed NCT02642159 Phase 4 ALIROCUMAB SAR236553 (REGN727);placebo;statins;ezetimibe;fenofibrate;nicotinic acid;omega-3 fatty acids
16 Antidiabetic Effects on Intrahepatic Fat Completed NCT03068065 Phase 4 Liraglutide;Metformin;Gliclazide
17 The Effect of Exenatide Compared to Lantus Insulin on Vascular Function in Type 2 Diabetes Completed NCT00353834 Phase 4 Exenatide;Glargine Insulin
18 Glargine Versus NPH in Patients With Chronic Kidney Disease Completed NCT02451917 Phase 4 Glargine;NPH insulin
19 A Study for Type 2 Diabetic Patients Completed NCT00548808 Phase 4 Insulin lispro low mixture;Insulin glargine;Insulin lispro
20 The Role Of Nitazoxanide, Interferon Alfa And Ribavirin In Treatment Of Hepatitis C Infected Type 2 Diabetic Patients Completed NCT01770483 Phase 4 nitazoxanide;conventional interferon alfa;Ribavirin
21 Type 2 Diabetes Evaluation of Ranolazine in Subjects With Chronic Stable Angina Completed NCT01425359 Phase 4 Ranolazine;Ranolazine placebo
22 Does Saxagliptin Reduce the Risk of Cardiovascular Events When Used Alone or Added to Other Diabetes Medications Completed NCT01107886 Phase 4 Saxagliptin;Placebo
23 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 Telmisartan plus Metformin;Telmisartan;Candesartan;Candesartan plus Metformin;Amlodipine;Amlodipine plus Metformin
24 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 INSULIN GLARGINE
25 TriMaster: Study of a DPP4 Inhibitor, SGLT2 Inhibitor and Thiazolidinedione as Third Line Therapy in Patients With Type 2 Diabetes. Recruiting NCT02653209 Phase 4 Sitagliptin - DPP4i;Canagliflozin - SGLT2i;Pioglitazone - TZD
26 Insulin Resistance and Mild Cognitive Impairment (IRMCI) Study Recruiting NCT02409238 Phase 4 Metformin
27 Par-4 and Telomere-telomerase System in Type 2 Diabetes Patients Who Received GLP-1 or Metformin Treatment Recruiting NCT02535299 Phase 4 Liraglutide;Metformin
28 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 Exenatide;Exenatide matching Placebo;Dapagliflozin
29 Chronotherapy With Low-dose Aspirin for Primary Prevention Recruiting NCT00725127 Phase 4 aspirin;aspirin
30 ß-Cell Function and Glycemic Control in Newly Diagnosed Type 2 Diabetic Patients With Moderate Hyperglycemia Recruiting NCT01717911 Phase 4 Insulin;Metformin;Sitagliptin
31 Efficacy Study of Liraglutide vs.Sitagliptin vs. Glargine on Liver Fat in T2DM Subjects Recruiting NCT02147925 Phase 4 Liraglutide combined with metformin;Insulin glargine combined with metformin;Sitagliptin combined with metformin
32 Effects on Re-endothelialisation With Bydureon Treatment in Type 2 Diabetes Subjects Recruiting NCT02621489 Phase 4 Bydureon;Humulin kwickpen;Metformin
33 A Clinical Trial Analyzing Effects of Prokinetic Drug on the Blood Glucose in Patients With Type 2 Diabetes Not yet recruiting NCT02606617 Phase 4 Mosapride;Placebo
34 Intervention for High-normal or Borderline-elevated Blood Pressure in Adults With Type 2 Diabetes Not yet recruiting NCT03264352 Phase 4 Allisartan Isoproxil;Amlodipine 5mg;Hydrochlorothiazide 25 mg;Allisartan Isoproxil placebo;Amlodipine placebo;Hydrochlorothiazide placebo
35 A Study of the Effect of Glucagon-like Peptide 1(GLP-1) Receptor Agonist in Combination With Metformin Therapy on Diabetes Remission in Subjects With Newly Diagnosed Type 2 Diabetes Who Are Overweight or Obese Not yet recruiting NCT03018665 Phase 4 Exenatide;BIAsp30;Metformin
36 Effects of Sequential Treatment Based on Lina/MET After Short-term Intensive Insulin in Newly Diagnosed Type 2 Diabetes Not yet recruiting NCT03194945 Phase 4 CSII followed by Lina+MET;CSII followed by Lina;CSII followed by MET;CSII alone
37 Effectiveness and Safety of Two Approaches to the Management of Type 2 Diabetes Mellitus in Australian Primary Care Terminated NCT00950534 Phase 4 INSULIN GLARGINE (HOE901);Oral Anti Diabetics (OAD)
38 GLP-1 and Non-exercise Activity Thermogenesis in RHZ Terminated NCT01638260 Phase 4 Liraglutide
39 Changes in Bone Turnover With Exposure to a GLP-1 Receptor Agonist Terminated NCT01381926 Phase 4 exenatide;Saline
40 Ezetimibe Plus Simvastatin Versus Simvastatin in Patients With Hypercholesterolemia and Coronary Risk Factors (P03405) Terminated NCT00651014 Phase 4 Ezetimibe;Placebo
41 Genetic Variation in OCT1 and Response to Metformin Withdrawn NCT00588172 Phase 4 Metformin
42 A Phase III Study of SP2086 in Combination With Metformin in Patients With Type 2 Diabetes Unknown status NCT01970046 Phase 3 Placebo/Metformin;SP2086 50 mg b.i.d/Metformin;SP2086 50 mg q.d./Metformin
43 Phase III Trial to Evaluate the Efficacy and Safety of Gemigliptin 50mg qd Added to Ongoing Glimepiride as Fix-dose Combination in Patients With Type 2 Diabetes Unknown status NCT02089126 Phase 3 Gemigliptin/Glimepiride combination
44 Efficacy and Safety of SP2086 as Monotherapy in Patients With Type 2 Diabetes Unknown status NCT01970033 Phase 3 Placebo;SP2086 50 mg b.i.d.;SP2086 100 mg q.d.
45 Patients With Type 2 Diabetes Mellitus With Insufficient Glycaemic Control Despite Treatment With Metformin Alone or Metformin in Combination With a Sulfonylurea Unknown status NCT01257334 Phase 3 BI 10773
46 Electronically Connected Health Coaching in Type 2 Diabetes Unknown status NCT02036892 Phase 3
47 A Phase III Randomized, Double-blind, Parallel-group Study to Evaluate the Efficacy and Safety of Acarmet (Metformin HCl 500 mg Plus Acarbose 50 mg Tablets) Versus Acarbose Alone in Subjects With Type 2 Diabetes Mellitus Unknown status NCT01245166 Phase 3 Acarbose;Metformin/Acarbose
48 Clinical Trail of Tang-min-Ling Pills in Type 2 Diabetes Mellitus Unknown status NCT01087242 Phase 3 Tang-min Lin pill
49 Flexible, Intensive vs. Conventional Insulin Therapy in Insulin-Naive Adults With Type 2 Diabetes Unknown status NCT00440284 Phase 3 conventional vs. flexible, intensive insulin therapy
50 Psychoneuroimmunology Therapy in Uncontrolled Diabetic Patients: A Quasi-experimental Study Unknown status NCT02536820 Phase 3 Conventional treatment

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

MalaCards organs/tissues related to Mody, Type Iii:

39
Heart, Kidney, Endothelial, Testes, Liver, Bone, Thyroid

Publications for Mody, Type Iii

Variations for Mody, Type Iii

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

71 (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 45)
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.313dupG (p.Glu105Glyfs) duplication Likely pathogenic rs193922594 GRCh38 Chromosome 12, 120979081: 120979081
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.375_377dupGCA (p.Gln125_His126insGln) duplication Likely pathogenic rs193922596 GRCh37 Chromosome 12, 121426684: 121426686
28 HNF1A NM_000545.6(HNF1A): c.441C> A (p.His147Gln) single nucleotide variant Likely pathogenic rs193922597 GRCh37 Chromosome 12, 121426750: 121426750
29 HNF1A NM_000545.6(HNF1A): c.467C> T (p.Thr156Met) single nucleotide variant Likely pathogenic rs150513055 GRCh37 Chromosome 12, 121426776: 121426776
30 HNF1A NM_000545.6(HNF1A): c.518_526+37del46 deletion Likely pathogenic rs386134267 GRCh37 Chromosome 12, 121426827: 121426872
31 HNF1A NM_000545.5(HNF1A): c.598C> T (p.Arg200Trp) single nucleotide variant Likely pathogenic rs193922598 GRCh37 Chromosome 12, 121431394: 121431394
32 HNF1A NM_000545.6(HNF1A): c.666_668delGAA (p.Lys222del) deletion Likely pathogenic rs193922599 GRCh37 Chromosome 12, 121431462: 121431464
33 HNF1A NM_000545.6(HNF1A): c.670C> T (p.Pro224Ser) single nucleotide variant Likely pathogenic rs193922600 GRCh37 Chromosome 12, 121431466: 121431466
34 HNF1A NM_000545.6(HNF1A): c.731G> T (p.Arg244Ile) single nucleotide variant Likely pathogenic rs193922602 GRCh37 Chromosome 12, 121431984: 121431984
35 HNF1A NM_000545.6(HNF1A): c.734G> T (p.Gly245Val) single nucleotide variant Likely pathogenic rs193922603 GRCh37 Chromosome 12, 121431987: 121431987
36 HNF1A NM_000545.6(HNF1A): c.790G> T (p.Val264Phe) single nucleotide variant Likely pathogenic rs193922604 GRCh37 Chromosome 12, 121432043: 121432043
37 HNF1A NM_000545.6(HNF1A): c.803T> C (p.Phe268Ser) single nucleotide variant Likely pathogenic rs193922605 GRCh37 Chromosome 12, 121432056: 121432056
38 HNF1A NM_000545.6(HNF1A): c.827C> G (p.Ala276Gly) single nucleotide variant Likely pathogenic rs137853245 GRCh37 Chromosome 12, 121432080: 121432080
39 HNF1A NM_000545.6(HNF1A): c.872C> G (p.Pro291Arg) single nucleotide variant Likely pathogenic rs193922606 GRCh37 Chromosome 12, 121432125: 121432125
40 HNF1A NM_000545.6(HNF1A): c.1501+1G> A single nucleotide variant Likely pathogenic rs1131692182 GRCh38 Chromosome 12, 120997666: 120997666
41 HNF1A NM_000545.6(HNF1A): c.29C> T (p.Thr10Met) single nucleotide variant Likely pathogenic rs774637975 GRCh38 Chromosome 12, 120978797: 120978797
42 HNF1A NM_000545.6(HNF1A): c.676_678delAAG (p.Lys226del) deletion Likely pathogenic GRCh38 Chromosome 12, 120993669: 120993671
43 HNF1A NM_000545.6(HNF1A): c.864delG (p.Pro291Glnfs) deletion Pathogenic GRCh38 Chromosome 12, 120994314: 120994314
44 HNF1A NM_000545.6(HNF1A): c.1137delT (p.Val380Serfs) deletion Pathogenic GRCh38 Chromosome 12, 120996570: 120996570
45 HNF1A NM_000545.6(HNF1A): c.1359delC (p.Ser454Alafs) deletion Pathogenic GRCh38 Chromosome 12, 120997523: 120997523

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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