MODY13
MCID: MTR075
MIFTS: 39

Maturity-Onset Diabetes of the Young, Type 13 (MODY13)

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

Aliases & Classifications for Maturity-Onset Diabetes of the Young, Type 13

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 13:

Name: Maturity-Onset Diabetes of the Young, Type 13 57 72 29 6
Mody13 57 12 72
Maturity-Onset Diabetes of the Young Type 13 12 15
Mody Type 13 12 72
Diabetes of the Young, Maturity-Onset, Type 13 39
Maturity-Onset Diabetes of the Young 13 72
Mody, Type 13 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial phenotypic variability ranging from transient or permanent neonatal diabetes to mody to impaired fasting glucose or impaired glucose tolerance
treatment with sulfonylurea can be effective


HPO:

31
maturity-onset diabetes of the young, type 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111110
OMIM® 57 616329
MeSH 44 D003924
SNOMED-CT via HPO 68 11687002 263681008 609561005

Summaries for Maturity-Onset Diabetes of the Young, Type 13

UniProtKB/Swiss-Prot : 72 Maturity-onset diabetes of the young 13: 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 : Maturity-Onset Diabetes of the Young, Type 13, also known as mody13, is related to maturity-onset diabetes of the young and acute insulin response. An important gene associated with Maturity-Onset Diabetes of the Young, Type 13 is KCNJ11 (Potassium Inwardly Rectifying Channel Subfamily J Member 11), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. Related phenotypes are maternal diabetes and 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 KCNJ11 gene on chromosome 11p15.

More information from OMIM: 616329

Related Diseases for Maturity-Onset Diabetes of the Young, Type 13

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 13 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 maturity-onset diabetes of the young 27.7 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
2 acute insulin response 10.1 KCNJ11 ABCC8
3 cardiomyopathy, dilated, 1o 10.1 KCNJ11 ABCC8
4 asphyxia neonatorum 10.1 KCNJ11 ABCC8
5 coronary artery vasospasm 10.1 KCNJ11 ABCC8
6 cantu syndrome 10.1 KCNJ11 ABCC8
7 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.0 KCNJ11 ABCC8
8 umbilical hernia 10.0 KCNJ11 ABCC8
9 fructose-1,6-bisphosphatase deficiency 10.0 GCK ABCC8
10 hyperinsulinemic hypoglycemia, familial, 1 9.9 KCNJ11 ABCC8
11 diabetes mellitus, ketosis-prone 9.9 PAX4 KCNJ11 ABCC8
12 hypoglycemia 9.9 KCNJ11 GCK ABCC8
13 munchausen by proxy 9.9 KCNJ11 GCK ABCC8
14 factitious disorder 9.9 KCNJ11 GCK ABCC8
15 hyperinsulinemic hypoglycemia, familial, 7 9.9 KCNJ11 GCK ABCC8
16 hyperinsulinemic hypoglycemia, familial, 6 9.9 KCNJ11 GCK ABCC8
17 glucose metabolism disease 9.8 KCNJ11 GCK ABCC8
18 hyperinsulinemic hypoglycemia, familial, 2 9.8 KCNJ11 HNF4A ABCC8
19 type 1 diabetes mellitus 11 9.8 PDX1 NEUROD1
20 intestinal atresia 9.7 PDX1 GCK
21 glucose intolerance 9.6 NEUROD1 KCNJ11 GCK ABCC8
22 gestational diabetes 9.6 KCNJ11 HNF4A GCK ABCC8
23 hyperinsulinism 9.5 KCNJ11 HNF4A GCK ABCC8
24 diabetes mellitus, permanent neonatal, 1 9.5 PDX1 KCNJ11 GCK ABCC8
25 pancreatic cystadenoma 9.4 PDX1 NEUROD1 GCK ABCC8
26 body mass index quantitative trait locus 11 9.2 KCNJ11 HNF4A GCK ABCC8
27 transient neonatal diabetes mellitus 9.2 PDX1 NEUROD1 KCNJ11 GCK ABCC8
28 insulinoma 9.1 PDX1 PAX4 NEUROD1 GCK ABCC8
29 hyperinsulinemic hypoglycemia 9.1 PDX1 KCNJ11 HNF4A GCK ABCC8
30 type 1 diabetes mellitus 9.0 PDX1 PAX4 NEUROD1 HNF4A GCK
31 monogenic diabetes 8.9 PDX1 KLF11 KCNJ11 HNF4A GCK ABCC8
32 hyperglycemia 8.9 PDX1 PAX4 KCNJ11 HNF4A GCK ABCC8
33 maturity-onset diabetes of the young, type 14 8.9 PDX1 PAX4 NEUROD1 KLF11 GCK BLK
34 neonatal diabetes 8.8 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 GCK
35 pancreatic agenesis 8.7 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A GCK
36 permanent neonatal diabetes mellitus 8.7 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A GCK
37 type 2 diabetes mellitus 8.6 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A GCK
38 maturity-onset diabetes of the young, type 11 8.5 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
39 maturity-onset diabetes of the young, type 1 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
40 maturity-onset diabetes of the young, type 10 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
41 maturity-onset diabetes of the young, type 9 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
42 maturity-onset diabetes of the young, type 7 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
43 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
44 maturity-onset diabetes of the young, type 6 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
45 maturity-onset diabetes of the young, type 4 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
46 maturity-onset diabetes of the young, type 3 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
47 renal cysts and diabetes syndrome 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
48 maturity-onset diabetes of the young, type 2 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
49 diabetes mellitus 8.2 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 13:



Diseases related to Maturity-Onset Diabetes of the Young, Type 13

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 13

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 13:

31
# Description HPO Frequency HPO Source Accession
1 maternal diabetes 31 HP:0009800
2 maturity-onset diabetes of the young 31 HP:0004904

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine Features:
gestational diabetes
maturity onset diabetes

Growth Other:
normal bmi

Clinical features from OMIM®:

616329 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Maturity-Onset Diabetes of the Young, Type 13 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with TRAIL GR00154-A 8.32 BLK

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 13:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.56 ABCC8 BLK GCK HNF4A KCNJ11 NEUROD1
2 homeostasis/metabolism MP:0005376 9.28 ABCC8 BLK GCK HNF4A KCNJ11 KLF11

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 13

Search Clinical Trials , NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 13

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 13

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 13:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young, Type 13 29 KCNJ11

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 13

Publications for Maturity-Onset Diabetes of the Young, Type 13

Articles related to Maturity-Onset Diabetes of the Young, Type 13:

# Title Authors PMID Year
1
Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene. 57 6 61
22701567 2012
2
The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. 57 6
15784703 2005
3
Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes. 6
27033559 2016
4
Neonatal diabetes mellitus due to L233F mutation in the KCNJ11 gene. 6
21210267 2011
5
Permanent neonatal diabetes mellitus--the importance of diabetes differential diagnosis in neonates and infants. 6
21054355 2011
6
Continuous spectrum of glucose dysmetabolism due to the KCNJ11 gene mutation-Case reports and review of the literature. 61
32935446 2021
7
Generation of an induced pluripotent stem cell (iPSC) line from a patient with maturity-onset diabetes of the young type 13 (MODY13) with a the potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11) mutation. 61
28925365 2017
8
[Molecular genetics of maturity-onset diabetes of the young]. 61
28635922 2016

Variations for Maturity-Onset Diabetes of the Young, Type 13

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 13:

6 (show top 50) (show all 72)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNJ11 NM_000525.3(KCNJ11):c.124T>C (p.Cys42Arg) SNV Pathogenic 8676 rs80356610 GRCh37: 11:17409515-17409515
GRCh38: 11:17387968-17387968
2 KCNJ11 NM_000525.3(KCNJ11):c.967dup (p.Asp323fs) Duplication Pathogenic 478917 rs1554901596 GRCh37: 11:17408671-17408672
GRCh38: 11:17387124-17387125
3 KCNJ11 NM_000525.3(KCNJ11):c.679G>A (p.Glu227Lys) SNV Pathogenic 158682 rs587783672 GRCh37: 11:17408960-17408960
GRCh38: 11:17387413-17387413
4 KCNJ11 NM_000525.3(KCNJ11):c.697C>T (p.Leu233Phe) SNV Likely pathogenic 617651 rs1564865302 GRCh37: 11:17408942-17408942
GRCh38: 11:17387395-17387395
5 KCNJ11 NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) SNV Likely pathogenic 8686 rs267607196 GRCh37: 11:17408795-17408795
GRCh38: 11:17387248-17387248
6 KCNJ11 NM_000525.3(KCNJ11):c.1016T>G (p.Val339Gly) SNV Uncertain significance 550169 rs138125678 GRCh37: 11:17408623-17408623
GRCh38: 11:17387076-17387076
7 KCNJ11 NM_000525.3(KCNJ11):c.973C>A (p.Arg325Ser) SNV Uncertain significance 435560 rs550315112 GRCh37: 11:17408666-17408666
GRCh38: 11:17387119-17387119
8 KCNJ11 NM_000525.4(KCNJ11):c.*1415G>A SNV Uncertain significance 877473 GRCh37: 11:17407051-17407051
GRCh38: 11:17385504-17385504
9 KCNJ11 NM_000525.4(KCNJ11):c.*842C>G SNV Uncertain significance 877519 GRCh37: 11:17407624-17407624
GRCh38: 11:17386077-17386077
10 KCNJ11 NM_000525.3(KCNJ11):c.-546G>T SNV Uncertain significance 303744 rs886048045 GRCh37: 11:17410184-17410184
GRCh38: 11:17388637-17388637
11 KCNJ11 NM_000525.3(KCNJ11):c.*311C>T SNV Uncertain significance 303724 rs886048038 GRCh37: 11:17408155-17408155
GRCh38: 11:17386608-17386608
12 KCNJ11 NM_000525.3(KCNJ11):c.*218G>T SNV Uncertain significance 303726 rs886048039 GRCh37: 11:17408248-17408248
GRCh38: 11:17386701-17386701
13 KCNJ11 NM_000525.3(KCNJ11):c.-150G>A SNV Uncertain significance 303739 rs886048043 GRCh37: 11:17409788-17409788
GRCh38: 11:17388241-17388241
14 KCNJ11 NM_000525.3(KCNJ11):c.902G>A (p.Arg301His) SNV Uncertain significance 8683 rs74339576 GRCh37: 11:17408737-17408737
GRCh38: 11:17387190-17387190
15 KCNJ11 NM_000525.4(KCNJ11):c.156G>A (p.Gln52=) SNV Uncertain significance 877703 GRCh37: 11:17409483-17409483
GRCh38: 11:17387936-17387936
16 KCNJ11 NM_000525.4(KCNJ11):c.-424C>T SNV Uncertain significance 877742 GRCh37: 11:17410062-17410062
GRCh38: 11:17388515-17388515
17 KCNJ11 NM_000525.4(KCNJ11):c.*1037G>T SNV Uncertain significance 879076 GRCh37: 11:17407429-17407429
GRCh38: 11:17385882-17385882
18 KCNJ11 NM_000525.3(KCNJ11):c.1040G>A (p.Arg347His) SNV Uncertain significance 553036 rs771797701 GRCh37: 11:17408599-17408599
GRCh38: 11:17387052-17387052
19 KCNJ11 NM_000525.4(KCNJ11):c.451G>A (p.Val151Met) SNV Uncertain significance 877702 GRCh37: 11:17409188-17409188
GRCh38: 11:17387641-17387641
20 KCNJ11 NM_000525.4(KCNJ11):c.*1220G>A SNV Uncertain significance 877474 GRCh37: 11:17407246-17407246
GRCh38: 11:17385699-17385699
21 KCNJ11 NM_000525.4(KCNJ11):c.1172G>A (p.Ter391=) SNV Uncertain significance 877617 GRCh37: 11:17408467-17408467
GRCh38: 11:17386920-17386920
22 KCNJ11 NM_000525.3(KCNJ11):c.819C>T (p.Ser273=) SNV Uncertain significance 792496 rs202238153 GRCh37: 11:17408820-17408820
GRCh38: 11:17387273-17387273
23 KCNJ11 NM_000525.4(KCNJ11):c.91C>T (p.Arg31Trp) SNV Uncertain significance 878730 GRCh37: 11:17409548-17409548
GRCh38: 11:17388001-17388001
24 KCNJ11 NM_000525.3(KCNJ11):c.1064T>C (p.Leu355Pro) SNV Uncertain significance 211220 rs797045635 GRCh37: 11:17408575-17408575
GRCh38: 11:17387028-17387028
25 KCNJ11 NM_000525.4(KCNJ11):c.-37C>T SNV Uncertain significance 879326 GRCh37: 11:17409675-17409675
GRCh38: 11:17388128-17388128
26 KCNJ11 NM_000525.4(KCNJ11):c.*849C>G SNV Uncertain significance 880301 GRCh37: 11:17407617-17407617
GRCh38: 11:17386070-17386070
27 KCNJ11 NM_000525.3(KCNJ11):c.-515G>A SNV Uncertain significance 303743 rs886048044 GRCh37: 11:17410153-17410153
GRCh38: 11:17388606-17388606
28 KCNJ11 NM_000525.3(KCNJ11):c.*862G>T SNV Uncertain significance 303712 rs547635594 GRCh37: 11:17407604-17407604
GRCh38: 11:17386057-17386057
29 KCNJ11 NM_000525.3(KCNJ11):c.*99C>G SNV Uncertain significance 303728 rs886048040 GRCh37: 11:17408367-17408367
GRCh38: 11:17386820-17386820
30 KCNJ11 NM_000525.3(KCNJ11):c.*50G>A SNV Uncertain significance 303732 rs886048041 GRCh37: 11:17408416-17408416
GRCh38: 11:17386869-17386869
31 KCNJ11 NM_000525.3(KCNJ11):c.*546G>A SNV Uncertain significance 303719 rs886048037 GRCh37: 11:17407920-17407920
GRCh38: 11:17386373-17386373
32 KCNJ11 NM_000525.3(KCNJ11):c.*937C>T SNV Uncertain significance 303711 rs886048033 GRCh37: 11:17407529-17407529
GRCh38: 11:17385982-17385982
33 KCNJ11 NM_000525.3(KCNJ11):c.-179C>T SNV Uncertain significance 303741 rs776949660 GRCh37: 11:17409817-17409817
GRCh38: 11:17388270-17388270
34 KCNJ11 NM_000525.3(KCNJ11):c.*732C>T SNV Uncertain significance 303714 rs886048035 GRCh37: 11:17407734-17407734
GRCh38: 11:17386187-17386187
35 KCNJ11 NM_000525.3(KCNJ11):c.*678C>T SNV Uncertain significance 303718 rs886048036 GRCh37: 11:17407788-17407788
GRCh38: 11:17386241-17386241
36 KCNJ11 NM_000525.3(KCNJ11):c.*1562A>G SNV Uncertain significance 303707 rs886048031 GRCh37: 11:17406904-17406904
GRCh38: 11:17385357-17385357
37 KCNJ11 NM_000525.3(KCNJ11):c.*701A>T SNV Uncertain significance 303715 rs5207 GRCh37: 11:17407765-17407765
GRCh38: 11:17386218-17386218
38 KCNJ11 NM_000525.3(KCNJ11):c.741C>T (p.Asn247=) SNV Uncertain significance 303736 rs886048042 GRCh37: 11:17408898-17408898
GRCh38: 11:17387351-17387351
39 KCNJ11 NM_000525.3(KCNJ11):c.525C>A (p.His175Gln) SNV Uncertain significance 303737 rs865963367 GRCh37: 11:17409114-17409114
GRCh38: 11:17387567-17387567
40 KCNJ11 NM_000525.3(KCNJ11):c.*1055T>A SNV Uncertain significance 303710 rs886048032 GRCh37: 11:17407411-17407411
GRCh38: 11:17385864-17385864
41 KCNJ11 NM_000525.3(KCNJ11):c.1089A>G (p.Ser363=) SNV Likely benign 158671 rs5214 GRCh37: 11:17408550-17408550
GRCh38: 11:17387003-17387003
42 KCNJ11 NM_000525.3(KCNJ11):c.*40C>T SNV Likely benign 303733 rs746850899 GRCh37: 11:17408426-17408426
GRCh38: 11:17386879-17386879
43 KCNJ11 NM_000525.3(KCNJ11):c.570C>T (p.Ala190=) SNV Likely benign 158680 rs5218 GRCh37: 11:17409069-17409069
GRCh38: 11:17387522-17387522
44 KCNJ11 NM_000525.3(KCNJ11):c.1009G>A (p.Val337Ile) SNV Likely benign 158670 rs5215 GRCh37: 11:17408630-17408630
GRCh38: 11:17387083-17387083
45 KCNJ11 NM_000525.3(KCNJ11):c.*215C>T SNV Likely benign 303727 rs5210 GRCh37: 11:17408251-17408251
GRCh38: 11:17386704-17386704
46 KCNJ11 NM_000525.3(KCNJ11):c.1034C>T (p.Thr345Met) SNV Likely benign 303734 rs114215135 GRCh37: 11:17408605-17408605
GRCh38: 11:17387058-17387058
47 KCNJ11 NM_000525.4(KCNJ11):c.804C>T SNV Likely benign 303735 rs778225010 GRCh37: 11:17408835-17408835
GRCh38: 11:17387288-17387288
48 ABCC8 , KCNJ11 NM_000525.3(KCNJ11):c.-559G>C SNV Likely benign 303745 rs547932593 GRCh37: 11:17410197-17410197
GRCh38: 11:17388650-17388650
49 ABCC8 , KCNJ11 NM_000525.3(KCNJ11):c.-498T>C SNV Likely benign 303742 rs529946415 GRCh37: 11:17410136-17410136
GRCh38: 11:17388589-17388589
50 ABCC8 , KCNJ11 NM_000525.3(KCNJ11):c.67A>G (p.Lys23Glu) SNV Likely benign 8678 rs5219 GRCh37: 11:17409572-17409572
GRCh38: 11:17388025-17388025

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 13:

72
# Symbol AA change Variation ID SNP ID
1 KCNJ11 p.Glu227Lys VAR_073686 rs587783672

Expression for Maturity-Onset Diabetes of the Young, Type 13

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 13.

Pathways for Maturity-Onset Diabetes of the Young, Type 13

Pathways related to Maturity-Onset Diabetes of the Young, Type 13 according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.01 PDX1 PAX4 NEUROD1 HNF4A GCK
2
Show member pathways
12.44 PDX1 KCNJ11 GCK ABCC8
3 12.1 PDX1 NEUROD1 HNF4A
4
Show member pathways
11.65 PDX1 NEUROD1 HNF4A GCK
5 11.62 PDX1 PAX4 NEUROD1
6
Show member pathways
11.55 PDX1 PAX4 NEUROD1 HNF4A GCK
7 11.31 HNF4A GCK
8 11.23 KCNJ11 ABCC8
9 11.17 KCNJ11 ABCC8
10
Show member pathways
11.08 PDX1 NEUROD1 KCNJ11 HNF4A GCK ABCC8
11 11 PDX1 KCNJ11 HNF4A GCK ABCC8

GO Terms for Maturity-Onset Diabetes of the Young, Type 13

Cellular components related to Maturity-Onset Diabetes of the Young, Type 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.35 PDX1 PAX4 NEUROD1 KLF11 HNF4A
2 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

Biological processes related to Maturity-Onset Diabetes of the Young, Type 13 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 9.99 PDX1 PAX4 NEUROD1 KLF11 HNF4A
2 cell differentiation GO:0030154 9.88 PDX1 PAX4 NEUROD1 HNF4A BLK
3 negative regulation of transcription, DNA-templated GO:0045892 9.85 PDX1 PAX4 KLF11 HNF4A
4 cellular response to glucose stimulus GO:0071333 9.61 NEUROD1 KCNJ11
5 response to glucose GO:0009749 9.61 PDX1 NEUROD1 HNF4A
6 anatomical structure development GO:0048856 9.6 PAX4 HNF4A
7 positive regulation of cell differentiation GO:0045597 9.58 PAX4 NEUROD1
8 negative regulation of insulin secretion GO:0046676 9.58 KCNJ11 ABCC8
9 glucose metabolic process GO:0006006 9.58 PDX1 KCNJ11 GCK
10 insulin secretion GO:0030073 9.57 PDX1 NEUROD1
11 pancreas development GO:0031016 9.56 PDX1 PAX4
12 cellular glucose homeostasis GO:0001678 9.54 GCK ABCC8
13 signal transduction involved in regulation of gene expression GO:0023019 9.52 NEUROD1 HNF4A
14 nitric oxide mediated signal transduction GO:0007263 9.51 PDX1 NEUROD1
15 positive regulation of insulin secretion GO:0032024 9.5 PDX1 GCK BLK
16 inorganic cation transmembrane transport GO:0098662 9.49 KCNJ11 ABCC8
17 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.46 PDX1 NEUROD1
18 glucose homeostasis GO:0042593 9.46 PDX1 NEUROD1 HNF4A GCK
19 endocrine pancreas development GO:0031018 9.43 PDX1 PAX4 NEUROD1
20 detection of glucose GO:0051594 9.37 PDX1 GCK
21 response to drug GO:0042493 9.35 PDX1 PAX4 NEUROD1 KCNJ11 ABCC8
22 regulation of insulin secretion GO:0050796 9.02 NEUROD1 KCNJ11 HNF4A GCK ABCC8

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 13 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.72 PDX1 PAX4 NEUROD1 KLF11 HNF4A
2 DNA-binding transcription factor activity GO:0003700 9.67 PDX1 NEUROD1 KLF11 HNF4A
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.65 PDX1 PAX4 NEUROD1 KLF11 HNF4A
4 RNA polymerase II activating transcription factor binding GO:0001102 9.4 NEUROD1 HNF4A
5 cation-transporting ATPase activity GO:0019829 9.16 KCNJ11 ABCC8
6 sequence-specific double-stranded DNA binding GO:1990837 9.02 PDX1 PAX4 NEUROD1 KLF11 HNF4A
7 ATP-activated inward rectifier potassium channel activity GO:0015272 8.96 KCNJ11 ABCC8

Sources for Maturity-Onset Diabetes of the Young, Type 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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