MODY7
MCID: MTR024
MIFTS: 41

Maturity-Onset Diabetes of the Young, Type 7 (MODY7)

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 7

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 7:

Name: Maturity-Onset Diabetes of the Young, Type 7 57 20 70
Maturity-Onset Diabetes of the Young Type 7 12 29 6 15
Mody7 57 12 20 72
Maturity-Onset Diabetes of the Young, Type Vii 57 13
Mody Type 7 20 72
Diabetes of the Young, Maturity-Onset, Type 7 39
Type 7 Maturity-Onset Diabetes of the Young 20
Maturity-Onset Diabetes of the Young 7 72
Diabetes Mellitus Mody Type 7 20
Mody Klf11 Related 20
Mody-7 72

Characteristics:

HPO:

31
maturity-onset diabetes of the young, type 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111106
OMIM® 57 610508
MeSH 44 D003924
MedGen 41 C1864839
SNOMED-CT via HPO 68 263681008 44054006 609561005
UMLS 70 C1864839

Summaries for Maturity-Onset Diabetes of the Young, Type 7

UniProtKB/Swiss-Prot : 72 Maturity-onset diabetes of the young 7: 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 7, also known as maturity-onset diabetes of the young type 7, is related to maturity-onset diabetes of the young and type 2 diabetes mellitus. An important gene associated with Maturity-Onset Diabetes of the Young, Type 7 is KLF11 (Kruppel Like Factor 11), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. Affiliated tissues include liver, endothelial and pancreatic islet, and related phenotypes are type ii diabetes mellitus 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 KLF11 gene on chromosome 2p25.

More information from OMIM: 610508

Related Diseases for Maturity-Onset Diabetes of the Young, Type 7

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 7 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 28.4 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
2 type 2 diabetes mellitus 27.5 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
3 maturity-onset diabetes of the young, type 4 26.7 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
4 type 1 diabetes mellitus 11 10.1 PDX1 NEUROD1
5 intestinal atresia 10.0 PDX1 GCK
6 fructose-1,6-bisphosphatase deficiency 9.9 GCK ABCC8
7 exocrine pancreatic insufficiency 9.9 PDX1 CEL
8 acute insulin response 9.7 KCNJ11 ABCC8
9 cardiomyopathy, dilated, 1o 9.7 KCNJ11 ABCC8
10 asphyxia neonatorum 9.7 KCNJ11 ABCC8
11 coronary artery vasospasm 9.7 KCNJ11 ABCC8
12 cantu syndrome 9.7 KCNJ11 ABCC8
13 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.6 KCNJ11 ABCC8
14 pancreatic cystadenoma 9.6 PDX1 NEUROD1 GCK ABCC8
15 diabetes mellitus, ketosis-prone 9.6 PAX4 KCNJ11 ABCC8
16 umbilical hernia 9.6 KCNJ11 ABCC8
17 hypoglycemia 9.5 KCNJ11 GCK ABCC8
18 munchausen by proxy 9.5 KCNJ11 GCK ABCC8
19 factitious disorder 9.5 KCNJ11 GCK ABCC8
20 hyperinsulinemic hypoglycemia, familial, 7 9.5 KCNJ11 GCK ABCC8
21 hyperinsulinemic hypoglycemia, familial, 6 9.5 KCNJ11 GCK ABCC8
22 maturity-onset diabetes of the young, type 14 9.5 PDX1 PAX4 NEUROD1 KLF11 GCK BLK
23 type 1 diabetes mellitus 9.5 PDX1 PAX4 NEUROD1 HNF4A GCK
24 hyperinsulinemic hypoglycemia, familial, 2 9.5 KCNJ11 HNF4A ABCC8
25 glucose metabolism disease 9.4 KCNJ11 GCK ABCC8
26 insulinoma 9.4 PDX1 PAX4 NEUROD1 GCK ABCC8
27 hyperinsulinemic hypoglycemia, familial, 1 9.4 KCNJ11 ABCC8
28 glucose intolerance 9.3 NEUROD1 KCNJ11 GCK ABCC8
29 diabetes mellitus, permanent neonatal, 1 9.3 PDX1 KCNJ11 GCK ABCC8
30 gestational diabetes 9.2 KCNJ11 HNF4A GCK ABCC8
31 hyperinsulinism 9.2 KCNJ11 HNF4A GCK ABCC8
32 transient neonatal diabetes mellitus 9.2 PDX1 NEUROD1 KCNJ11 GCK ABCC8
33 hyperinsulinemic hypoglycemia 9.1 PDX1 KCNJ11 HNF4A GCK ABCC8
34 hyperglycemia 8.6 PDX1 PAX4 KCNJ11 HNF4A HNF1B GCK
35 neonatal diabetes 8.6 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF1B
36 permanent neonatal diabetes mellitus 8.5 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
37 pancreatic agenesis 8.4 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
38 monogenic diabetes 8.4 PDX1 KLF11 KCNJ11 HNF4A HNF1B GCK
39 maturity-onset diabetes of the young, type 13 8.4 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
40 maturity-onset diabetes of the young, type 11 8.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
41 maturity-onset diabetes of the young, type 1 8.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
42 renal cysts and diabetes syndrome 8.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
43 diabetes mellitus 7.9 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
44 maturity-onset diabetes of the young, type 10 7.9 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
45 maturity-onset diabetes of the young, type 9 7.9 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
46 maturity-onset diabetes of the young, type 8, with exocrine dysfunction 7.9 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
47 maturity-onset diabetes of the young, type 6 7.9 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
48 maturity-onset diabetes of the young, type 3 7.9 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
49 maturity-onset diabetes of the young, type 2 7.9 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 7:



Diseases related to Maturity-Onset Diabetes of the Young, Type 7

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 7

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 7:

31
# Description HPO Frequency HPO Source Accession
1 type ii diabetes mellitus 31 HP:0005978
2 maturity-onset diabetes of the young 31 HP:0004904

Clinical features from OMIM®:

610508 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Maturity-Onset Diabetes of the Young, Type 7 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 7:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.81 ABCC8 BLK GCK HNF1B HNF4A KCNJ11
2 growth/size/body region MP:0005378 9.61 ABCC8 CEL GCK HNF1B HNF4A KCNJ11
3 homeostasis/metabolism MP:0005376 9.36 ABCC8 BLK CEL GCK HNF1B HNF4A

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 7

Search Clinical Trials , NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 7

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 7

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 7:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young Type 7 29 KLF11

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 7

MalaCards organs/tissues related to Maturity-Onset Diabetes of the Young, Type 7:

40
Liver, Endothelial, Pancreatic Islet

Publications for Maturity-Onset Diabetes of the Young, Type 7

Articles related to Maturity-Onset Diabetes of the Young, Type 7:

# Title Authors PMID Year
1
Role of transcription factor KLF11 and its diabetes-associated gene variants in pancreatic beta cell function. 57 6
15774581 2005
2
Clinical and Functional Characteristics of a Novel KLF11 Cys354Phe Variant Involved in Maturity-Onset Diabetes of the Young. 61
33604390 2021
3
KLF11 variant in a family clinically diagnosed with early childhood-onset type 1B diabetes. 61
31124255 2019
4
Krüppel-like factor 11 regulates the expression of metabolic genes via an evolutionarily conserved protein interaction domain functionally disrupted in maturity onset diabetes of the young. 61
23589285 2013
5
Krüppel-like factor-11, a transcription factor involved in diabetes mellitus, suppresses endothelial cell activation via the nuclear factor-κB signaling pathway. 61
23042817 2012
6
MODY7 gene, KLF11, is a novel p300-dependent regulator of Pdx-1 (MODY4) transcription in pancreatic islet beta cells. 61
19843526 2009
7
[Diabetes mellitus]. 61
11307309 2001

Variations for Maturity-Onset Diabetes of the Young, Type 7

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 7:

6 (show top 50) (show all 101)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KLF11 NM_003597.5(KLF11):c.1039G>T (p.Ala347Ser) SNV Pathogenic 6498 rs121912645 GRCh37: 2:10188503-10188503
GRCh38: 2:10048376-10048376
2 KLF11 NM_003597.5(KLF11):c.*1155G>A SNV Uncertain significance 330663 rs886054729 GRCh37: 2:10193789-10193789
GRCh38: 2:10053662-10053662
3 KLF11 NM_003597.5(KLF11):c.*131G>A SNV Uncertain significance 330643 rs545836068 GRCh37: 2:10192765-10192765
GRCh38: 2:10052638-10052638
4 KLF11 NM_003597.5(KLF11):c.266C>T (p.Ala89Val) SNV Uncertain significance 330624 rs766187124 GRCh37: 2:10186500-10186500
GRCh38: 2:10046373-10046373
5 KLF11 NM_003597.5(KLF11):c.*1386A>G SNV Uncertain significance 330666 rs886054732 GRCh37: 2:10194020-10194020
GRCh38: 2:10053893-10053893
6 KLF11 NM_003597.5(KLF11):c.*1636C>T SNV Uncertain significance 330672 rs886054735 GRCh37: 2:10194270-10194270
GRCh38: 2:10054143-10054143
7 KLF11 NM_003597.5(KLF11):c.928T>C (p.Ser310Pro) SNV Uncertain significance 330632 rs759266535 GRCh37: 2:10188392-10188392
GRCh38: 2:10048265-10048265
8 KLF11 NM_003597.5(KLF11):c.*1894A>G SNV Uncertain significance 330675 rs557209557 GRCh37: 2:10194528-10194528
GRCh38: 2:10054401-10054401
9 KLF11 NM_003597.5(KLF11):c.1137C>G (p.Ser379Arg) SNV Uncertain significance 330638 rs199624763 GRCh37: 2:10188601-10188601
GRCh38: 2:10048474-10048474
10 KLF11 NM_003597.5(KLF11):c.1057C>A (p.Pro353Thr) SNV Uncertain significance 330635 rs886054724 GRCh37: 2:10188521-10188521
GRCh38: 2:10048394-10048394
11 KLF11 NM_003597.5(KLF11):c.-31G>A SNV Uncertain significance 330620 rs886054721 GRCh37: 2:10183813-10183813
GRCh38: 2:10043686-10043686
12 KLF11 NM_003597.5(KLF11):c.*1608T>G SNV Uncertain significance 330670 rs142746538 GRCh37: 2:10194242-10194242
GRCh38: 2:10054115-10054115
13 KLF11 NM_003597.5(KLF11):c.305C>G (p.Ser102Trp) SNV Uncertain significance 330625 rs576350323 GRCh37: 2:10186539-10186539
GRCh38: 2:10046412-10046412
14 KLF11 NM_003597.5(KLF11):c.-104C>T SNV Uncertain significance 330617 rs886054718 GRCh37: 2:10183740-10183740
GRCh38: 2:10043613-10043613
15 KLF11 NM_003597.5(KLF11):c.*1296T>C SNV Uncertain significance 330664 rs886054730 GRCh37: 2:10193930-10193930
GRCh38: 2:10053803-10053803
16 KLF11 NM_003597.5(KLF11):c.*166C>T SNV Uncertain significance 330644 rs531131204 GRCh37: 2:10192800-10192800
GRCh38: 2:10052673-10052673
17 KLF11 NM_003597.5(KLF11):c.*217G>T SNV Uncertain significance 330650 rs201145049 GRCh37: 2:10192851-10192851
GRCh38: 2:10052724-10052724
18 KLF11 NM_003597.5(KLF11):c.994C>T (p.Pro332Ser) SNV Uncertain significance 330633 rs375265808 GRCh37: 2:10188458-10188458
GRCh38: 2:10048331-10048331
19 KLF11 NM_003597.5(KLF11):c.689C>T (p.Ser230Phe) SNV Uncertain significance 330630 rs370039403 GRCh37: 2:10188153-10188153
GRCh38: 2:10048026-10048026
20 KLF11 NM_003597.5(KLF11):c.1169G>A (p.Arg390Gln) SNV Uncertain significance 330639 rs563767876 GRCh37: 2:10188633-10188633
GRCh38: 2:10048506-10048506
21 KLF11 NM_003597.5(KLF11):c.259A>G (p.Met87Val) SNV Uncertain significance 330623 rs757905542 GRCh37: 2:10186493-10186493
GRCh38: 2:10046366-10046366
22 KLF11 NM_003597.5(KLF11):c.18C>T (p.Phe6=) SNV Uncertain significance 330621 rs886054722 GRCh37: 2:10183861-10183861
GRCh38: 2:10043734-10043734
23 KLF11 NM_003597.5(KLF11):c.*674G>C SNV Uncertain significance 330656 rs574996537 GRCh37: 2:10193308-10193308
GRCh38: 2:10053181-10053181
24 KLF11 NM_003597.5(KLF11):c.1077G>A (p.Met359Ile) SNV Uncertain significance 330636 rs146486664 GRCh37: 2:10188541-10188541
GRCh38: 2:10048414-10048414
25 KLF11 NM_003597.5(KLF11):c.*2265T>A SNV Uncertain significance 330679 rs757068768 GRCh37: 2:10194899-10194899
GRCh38: 2:10054772-10054772
26 KLF11 NM_003597.5(KLF11):c.*954C>G SNV Uncertain significance 330659 rs886054728 GRCh37: 2:10193588-10193588
GRCh38: 2:10053461-10053461
27 KLF11 NM_003597.5(KLF11):c.358A>G (p.Arg120Gly) SNV Uncertain significance 330626 rs201792575 GRCh37: 2:10187822-10187822
GRCh38: 2:10047695-10047695
28 KLF11 NM_003597.5(KLF11):c.*1612C>G SNV Uncertain significance 330671 rs886054734 GRCh37: 2:10194246-10194246
GRCh38: 2:10054119-10054119
29 KLF11 NM_003597.5(KLF11):c.*1301C>G SNV Uncertain significance 330665 rs886054731 GRCh37: 2:10193935-10193935
GRCh38: 2:10053808-10053808
30 KLF11 NM_003597.5(KLF11):c.*1495G>A SNV Uncertain significance 330668 rs886054733 GRCh37: 2:10194129-10194129
GRCh38: 2:10054002-10054002
31 KLF11 NM_003597.5(KLF11):c.*756C>T SNV Uncertain significance 330657 rs886054727 GRCh37: 2:10193390-10193390
GRCh38: 2:10053263-10053263
32 KLF11 NM_003597.5(KLF11):c.*2273C>T SNV Uncertain significance 330680 rs534714754 GRCh37: 2:10194907-10194907
GRCh38: 2:10054780-10054780
33 KLF11 NM_003597.5(KLF11):c.1046C>T (p.Pro349Leu) SNV Uncertain significance 330634 rs886054723 GRCh37: 2:10188510-10188510
GRCh38: 2:10048383-10048383
34 KLF11 NM_003597.5(KLF11):c.-146C>T SNV Uncertain significance 330616 rs886054717 GRCh37: 2:10183698-10183698
GRCh38: 2:10043571-10043571
35 KLF11 NM_003597.5(KLF11):c.*2081C>T SNV Uncertain significance 330677 rs886054736 GRCh37: 2:10194715-10194715
GRCh38: 2:10054588-10054588
36 KLF11 NM_003597.5(KLF11):c.1102C>T (p.Pro368Ser) SNV Uncertain significance 330637 rs144897109 GRCh37: 2:10188566-10188566
GRCh38: 2:10048439-10048439
37 KLF11 NM_003597.5(KLF11):c.1259-2_1259-1del Deletion Uncertain significance 631821 rs770555623 GRCh37: 2:10192352-10192353
GRCh38: 2:10052225-10052226
38 KLF11 NM_003597.5(KLF11):c.431T>C (p.Val144Ala) SNV Uncertain significance 892905 GRCh37: 2:10187895-10187895
GRCh38: 2:10047768-10047768
39 KLF11 NM_003597.5(KLF11):c.501C>T (p.Pro167=) SNV Uncertain significance 892906 GRCh37: 2:10187965-10187965
GRCh38: 2:10047838-10047838
40 KLF11 NM_003597.5(KLF11):c.608G>A (p.Gly203Glu) SNV Uncertain significance 892908 GRCh37: 2:10188072-10188072
GRCh38: 2:10047945-10047945
41 KLF11 NM_003597.5(KLF11):c.644A>G (p.Gln215Arg) SNV Uncertain significance 892909 GRCh37: 2:10188108-10188108
GRCh38: 2:10047981-10047981
42 KLF11 NM_003597.5(KLF11):c.1396A>G (p.Ser466Gly) SNV Uncertain significance 892938 GRCh37: 2:10192491-10192491
GRCh38: 2:10052364-10052364
43 KLF11 NM_003597.5(KLF11):c.1486G>A (p.Ala496Thr) SNV Uncertain significance 892940 GRCh37: 2:10192581-10192581
GRCh38: 2:10052454-10052454
44 KLF11 NM_003597.5(KLF11):c.*1320G>A SNV Uncertain significance 892978 GRCh37: 2:10193954-10193954
GRCh38: 2:10053827-10053827
45 KLF11 NM_003597.5(KLF11):c.*1463A>G SNV Uncertain significance 892979 GRCh37: 2:10194097-10194097
GRCh38: 2:10053970-10053970
46 KLF11 NM_003597.5(KLF11):c.*319C>T SNV Uncertain significance 893172 GRCh37: 2:10192953-10192953
GRCh38: 2:10052826-10052826
47 KLF11 NM_003597.5(KLF11):c.*1658G>A SNV Uncertain significance 893207 GRCh37: 2:10194292-10194292
GRCh38: 2:10054165-10054165
48 KLF11 NM_003597.5(KLF11):c.*1725G>C SNV Uncertain significance 893208 GRCh37: 2:10194359-10194359
GRCh38: 2:10054232-10054232
49 KLF11 NM_003597.5(KLF11):c.673A>C (p.Ser225Arg) SNV Uncertain significance 893715 GRCh37: 2:10188137-10188137
GRCh38: 2:10048010-10048010
50 KLF11 NM_003597.5(KLF11):c.926T>C (p.Leu309Ser) SNV Uncertain significance 893717 GRCh37: 2:10188390-10188390
GRCh38: 2:10048263-10048263

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 7:

72
# Symbol AA change Variation ID SNP ID
1 KLF11 p.Thr220Met VAR_031523 rs34336420
2 KLF11 p.Ala347Ser VAR_031524 rs121912645

Expression for Maturity-Onset Diabetes of the Young, Type 7

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 7.

Pathways for Maturity-Onset Diabetes of the Young, Type 7

Pathways related to Maturity-Onset Diabetes of the Young, Type 7 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.06 PDX1 PAX4 NEUROD1 HNF4A HNF1B GCK
2
Show member pathways
12.48 PDX1 KCNJ11 GCK ABCC8
3 11.75 PDX1 PAX4 NEUROD1 HNF1B
4
Show member pathways
11.75 PDX1 NEUROD1 HNF4A HNF1B GCK
5
Show member pathways
11.43 PDX1 PAX4 NEUROD1 HNF4A HNF1B GCK
6 11.2 PDX1 KCNJ11 HNF4A GCK ABCC8
7 11.15 KCNJ11 ABCC8
8
Show member pathways
11.15 PDX1 NEUROD1 KCNJ11 HNF4A HNF1B GCK

GO Terms for Maturity-Onset Diabetes of the Young, Type 7

Cellular components related to Maturity-Onset Diabetes of the Young, Type 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.43 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 inward rectifying potassium channel GO:0008282 8.62 KCNJ11 ABCC8

Biological processes related to Maturity-Onset Diabetes of the Young, Type 7 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 10.01 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 cell differentiation GO:0030154 9.97 PDX1 PAX4 NEUROD1 HNF4A BLK
3 positive regulation of transcription, DNA-templated GO:0045893 9.91 PDX1 NEUROD1 HNF4A HNF1B
4 negative regulation of transcription, DNA-templated GO:0045892 9.89 PDX1 PAX4 KLF11 HNF4A
5 response to glucose GO:0009749 9.67 PDX1 NEUROD1 HNF4A
6 glucose metabolic process GO:0006006 9.63 PDX1 KCNJ11 GCK
7 response to drug GO:0042493 9.63 PDX1 PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
8 positive regulation of insulin secretion GO:0032024 9.61 PDX1 GCK BLK
9 positive regulation of cell differentiation GO:0045597 9.6 PAX4 NEUROD1
10 negative regulation of insulin secretion GO:0046676 9.58 KCNJ11 ABCC8
11 cellular glucose homeostasis GO:0001678 9.58 GCK ABCC8
12 signal transduction involved in regulation of gene expression GO:0023019 9.56 NEUROD1 HNF4A
13 glucose homeostasis GO:0042593 9.56 PDX1 NEUROD1 HNF4A GCK
14 nitric oxide mediated signal transduction GO:0007263 9.55 PDX1 NEUROD1
15 insulin secretion GO:0030073 9.54 PDX1 NEUROD1 HNF1B
16 inorganic cation transmembrane transport GO:0098662 9.52 KCNJ11 ABCC8
17 hepatocyte differentiation GO:0070365 9.51 HNF4A HNF1B
18 pancreas development GO:0031016 9.5 PDX1 PAX4 HNF1B
19 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.48 PDX1 NEUROD1
20 detection of glucose GO:0051594 9.4 PDX1 GCK
21 endocrine pancreas development GO:0031018 9.26 PDX1 PAX4 NEUROD1 HNF1B
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 7 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
2 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.73 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
3 DNA-binding transcription factor activity GO:0003700 9.72 PDX1 NEUROD1 KLF11 HNF4A HNF1B
4 sequence-specific DNA binding GO:0043565 9.71 PDX1 NEUROD1 HNF4A HNF1B
5 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.63 PDX1 PAX4 NEUROD1 KLF11 HNF4A HNF1B
6 RNA polymerase II activating transcription factor binding GO:0001102 9.46 NEUROD1 HNF4A
7 cation-transporting ATPase activity GO:0019829 9.37 KCNJ11 ABCC8
8 sequence-specific double-stranded DNA binding GO:1990837 9.02 PDX1 PAX4 NEUROD1 KLF11 HNF4A
9 ATP-activated inward rectifier potassium channel activity GO:0015272 8.96 KCNJ11 ABCC8

Sources for Maturity-Onset Diabetes of the Young, Type 7

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....