MODY6
MCID: MTR023
MIFTS: 40

Maturity-Onset Diabetes of the Young, Type 6 (MODY6)

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 6

MalaCards integrated aliases for Maturity-Onset Diabetes of the Young, Type 6:

Name: Maturity-Onset Diabetes of the Young, Type 6 57 20 71
Mody6 57 12 20 73 54
Maturity-Onset Diabetes of the Young Type 6 12 29 6 15
Maturity-Onset Diabetes of the Young 6 57 73 13
Mody Type 6 12 20 73
Diabetes of the Young, Maturity-Onset, Type 6 39
Type 6 Maturity-Onset Diabetes of the Young 20
Diabetes Mellitus Mody Type 6 20
Mody Neurod1 Related 20
Mody, Type 6 57
Mody-6 73

Characteristics:

HPO:

31
maturity-onset diabetes of the young, type 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111104
OMIM® 57 606394
MeSH 44 D003924
MedGen 41 C1853371
SNOMED-CT via HPO 68 263681008 609561005
UMLS 71 C1853371

Summaries for Maturity-Onset Diabetes of the Young, Type 6

UniProtKB/Swiss-Prot : 73 Maturity-onset diabetes of the young 6: 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 6, also known as mody6, is related to gestational diabetes and hyperglycemia. An important gene associated with Maturity-Onset Diabetes of the Young, Type 6 is NEUROD1 (Neuronal Differentiation 1), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. Related phenotypes are maturity-onset diabetes of the young and shRNA abundance <= 50%

Disease Ontology : 12 A maturity-onset diabetes of the young that has material basis in heterozygous mutation in the NEUROD1 gene on chromosome 2q31.

More information from OMIM: 606394

Related Diseases for Maturity-Onset Diabetes of the Young, Type 6

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

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 gestational diabetes 28.9 KCNJ11 HNF4A HNF1A GCK ABCC8
2 hyperglycemia 28.7 PDX1 PAX4 KCNJ11 HNF4A HNF1A GCK
3 maturity-onset diabetes of the young 27.9 PDX1 PAX4 NKX6-2 NEUROD1 KLF11 KCNJ11
4 maturity-onset diabetes of the young, type 1 27.6 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
5 diabetes mellitus 26.7 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
6 maturity-onset diabetes of the young, type 3 26.7 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
7 maturity-onset diabetes of the young, type 2 26.7 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
8 hepatic adenomas, familial 10.2 HNF4A HNF1A
9 type 1 diabetes mellitus 11 10.1 PDX1 NEUROD1 HNF1A
10 aminoaciduria 10.1 HNF4A HNF1A
11 diabetes mellitus, neonatal, with congenital hypothyroidism 10.0 NKX6-2 NEUROD1
12 intestinal atresia 10.0 PDX1 GCK
13 renal glucosuria 10.0 HNF1B HNF1A
14 fructose-1,6-bisphosphatase deficiency 10.0 GCK ABCC8
15 acute insulin response 9.9 KCNJ11 ABCC8
16 cardiomyopathy, dilated, 1o 9.9 KCNJ11 ABCC8
17 alacrima, achalasia, and mental retardation syndrome 9.9
18 asphyxia neonatorum 9.9 KCNJ11 ABCC8
19 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.9 HNF4A HNF1A GCK
20 coronary artery vasospasm 9.9 KCNJ11 ABCC8
21 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 9.8 KCNJ11 ABCC8
22 cantu syndrome 9.8 KCNJ11 ABCC8
23 hypoglycemia 9.8 KCNJ11 GCK ABCC8
24 munchausen by proxy 9.8 KCNJ11 GCK ABCC8
25 factitious disorder 9.7 KCNJ11 GCK ABCC8
26 diabetes mellitus, ketosis-prone 9.7 PAX4 KCNJ11 ABCC8
27 hyperinsulinemic hypoglycemia, familial, 7 9.7 KCNJ11 GCK ABCC8
28 hyperinsulinemic hypoglycemia, familial, 6 9.7 KCNJ11 GCK ABCC8
29 hyperinsulinemic hypoglycemia, familial, 2 9.7 KCNJ11 HNF4A ABCC8
30 glucose metabolism disease 9.7 KCNJ11 GCK ABCC8
31 diabetes mellitus, permanent neonatal, 1 9.6 PDX1 KCNJ11 GCK ABCC8
32 hyperinsulinemic hypoglycemia, familial, 1 9.6 KCNJ11 ABCC8
33 type 1 diabetes mellitus 9.5 PDX1 PAX4 NEUROD1 HNF4A HNF1A GCK
34 maturity-onset diabetes of the young, type 14 9.5 PDX1 PAX4 NEUROD1 KLF11 GCK BLK
35 pancreatic cystadenoma 9.5 PDX1 NKX6-2 NEUROD1 GCK ABCC8
36 glucose intolerance 9.5 NEUROD1 KCNJ11 HNF1A GCK ABCC8
37 transient neonatal diabetes mellitus 9.5 PDX1 NEUROD1 KCNJ11 GCK ABCC8
38 insulinoma 9.4 PDX1 PAX4 NEUROD1 HNF1A GCK ABCC8
39 hyperinsulinism 9.4 KCNJ11 HNF4A HNF1A GCK ABCC8
40 body mass index quantitative trait locus 11 9.3 KCNJ11 HNF4A HNF1A GCK ABCC8
41 hyperinsulinemic hypoglycemia 9.3 PDX1 KCNJ11 HNF4A HNF1A GCK ABCC8
42 maturity-onset diabetes of the young, type 11 9.1 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 BLK
43 neonatal diabetes 9.0 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF1B
44 type 2 diabetes mellitus 8.8 PDX1 PAX4 NEUROD1 KCNJ11 HNF4A HNF1B
45 monogenic diabetes 8.7 PDX1 KCNJ11 HNF4A HNF1B HNF1A GCK
46 pancreatic agenesis 8.7 PDX1 PAX4 NKX6-2 NEUROD1 KCNJ11 HNF4A
47 maturity-onset diabetes of the young, type 13 8.6 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
48 permanent neonatal diabetes mellitus 8.5 PDX1 PAX4 NKX6-2 NEUROD1 KCNJ11 HNF4A
49 renal cysts and diabetes syndrome 8.3 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A
50 maturity-onset diabetes of the young, type 10 8.0 PDX1 PAX4 NEUROD1 KLF11 KCNJ11 HNF4A

Graphical network of the top 20 diseases related to Maturity-Onset Diabetes of the Young, Type 6:



Diseases related to Maturity-Onset Diabetes of the Young, Type 6

Symptoms & Phenotypes for Maturity-Onset Diabetes of the Young, Type 6

Human phenotypes related to Maturity-Onset Diabetes of the Young, Type 6:

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

Clinical features from OMIM®:

606394 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Maturity-Onset Diabetes of the Young, Type 6 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 shRNA abundance <= 50% GR00343-S 9.17 BLK CEL GCK HNF1A KCNJ11 NEUROD1

MGI Mouse Phenotypes related to Maturity-Onset Diabetes of the Young, Type 6:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.02 ABCC8 BLK GCK HNF1A HNF1B HNF4A
2 growth/size/body region MP:0005378 9.96 ABCC8 CEL GCK HNF1A HNF1B HNF4A
3 homeostasis/metabolism MP:0005376 9.93 ABCC8 BLK CEL GCK HNF1A HNF1B
4 liver/biliary system MP:0005370 9.43 CEL GCK HNF1A HNF1B HNF4A PDX1
5 renal/urinary system MP:0005367 9.17 GCK HNF1A HNF1B HNF4A NEUROD1 NKX6-2

Drugs & Therapeutics for Maturity-Onset Diabetes of the Young, Type 6

Search Clinical Trials , NIH Clinical Center for Maturity-Onset Diabetes of the Young, Type 6

Genetic Tests for Maturity-Onset Diabetes of the Young, Type 6

Genetic tests related to Maturity-Onset Diabetes of the Young, Type 6:

# Genetic test Affiliating Genes
1 Maturity-Onset Diabetes of the Young Type 6 29 NEUROD1

Anatomical Context for Maturity-Onset Diabetes of the Young, Type 6

Publications for Maturity-Onset Diabetes of the Young, Type 6

Articles related to Maturity-Onset Diabetes of the Young, Type 6:

(show all 12)
# Title Authors PMID Year
1
Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus. 57 6
10545951 1999
2
Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. 57
11575290 2001
3
Islet autoimmunity and genetic mutations in Chinese subjects initially thought to have Type 1B diabetes. 54 61
16409568 2006
4
[Etiological dissection in common anti-islet autoantibody-negative patients with type 1 diabetes]. 54 61
15387959 2004
5
Genetic Dissection and Clinical Features of MODY6 (NEUROD1-MODY). 61
30793219 2019
6
NEUROD1-deficient diabetes (MODY6): Identification of the first cases in Japanese and the clinical features. 61
28664602 2018
7
Pancreatic beta cells require NeuroD to achieve and maintain functional maturity. 61
20374962 2010
8
Evaluation of common variants in the six known maturity-onset diabetes of the young (MODY) genes for association with type 2 diabetes. 61
17327436 2007
9
[Contribution of MODY6 gene in the pathogenesis of familial type 2 diabetes in Chinese population]. 61
16321269 2005
10
Diagnostic screening of NEUROD1 (MODY6) in subjects with MODY or gestational diabetes mellitus. 61
16026366 2005
11
Large Family With Maturity-Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A. 61
12203996 2002
12
[Diabetes mellitus]. 61
11307309 2001

Variations for Maturity-Onset Diabetes of the Young, Type 6

ClinVar genetic disease variations for Maturity-Onset Diabetes of the Young, Type 6:

6 (show top 50) (show all 52)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NEUROD1 NM_002500.4(NEUROD1):c.616dup (p.His206fs) Duplication Pathogenic 7854 rs387906384 2:182542971-182542972 2:181678244-181678245
2 NEUROD1 NM_002500.4(NEUROD1):c.309C>G (p.Arg103=) SNV Pathogenic 218145 rs149703259 2:182543279-182543279 2:181678552-181678552
3 NEUROD1 NM_002500.4(NEUROD1):c.*617C>T SNV Uncertain significance 333030 rs886055323 2:182541900-182541900 2:181677173-181677173
4 NEUROD1 NM_002500.4(NEUROD1):c.646G>A (p.Val216Ile) SNV Uncertain significance 333038 rs755299574 2:182542942-182542942 2:181678215-181678215
5 NEUROD1 NM_002500.4(NEUROD1):c.-102G>A SNV Uncertain significance 333043 rs886055328 2:182545247-182545247 2:181680520-181680520
6 NEUROD1 NM_002500.4(NEUROD1):c.*548T>A SNV Uncertain significance 333031 rs886055324 2:182541969-182541969 2:181677242-181677242
7 NEUROD1 NM_002500.4(NEUROD1):c.908A>G (p.Tyr303Cys) SNV Uncertain significance 333037 rs886055327 2:182542680-182542680 2:181677953-181677953
8 NEUROD1 NM_002500.4(NEUROD1):c.*773A>C SNV Uncertain significance 333023 rs886055319 2:182541744-182541744 2:181677017-181677017
9 NEUROD1 NM_002500.4(NEUROD1):c.*1096T>C SNV Uncertain significance 333021 rs188774781 2:182541421-182541421 2:181676694-181676694
10 NEUROD1 NM_002500.4(NEUROD1):c.751G>T (p.Ala251Ser) SNV Uncertain significance 635415 rs375390710 2:182542837-182542837 2:181678110-181678110
11 NEUROD1 NM_002500.5(NEUROD1):c.*608T>C SNV Uncertain significance 894794 2:182541909-182541909 2:181677182-181677182
12 NEUROD1 NM_002500.5(NEUROD1):c.*454C>T SNV Uncertain significance 894795 2:182542063-182542063 2:181677336-181677336
13 NEUROD1 NM_002500.5(NEUROD1):c.*283A>G SNV Uncertain significance 894796 2:182542234-182542234 2:181677507-181677507
14 NEUROD1 NM_002500.5(NEUROD1):c.*253A>G SNV Uncertain significance 894797 2:182542264-182542264 2:181677537-181677537
15 NEUROD1 NM_002500.5(NEUROD1):c.*75G>T SNV Uncertain significance 894798 2:182542442-182542442 2:181677715-181677715
16 NEUROD1 NM_002500.5(NEUROD1):c.-81C>T SNV Uncertain significance 894870 2:182545226-182545226 2:181680499-181680499
17 NEUROD1 NM_002500.5(NEUROD1):c.944G>C (p.Gly315Ala) SNV Uncertain significance 896248 2:182542644-182542644 2:181677917-181677917
18 NEUROD1 NM_002500.5(NEUROD1):c.841G>T (p.Gly281Cys) SNV Uncertain significance 896249 2:182542747-182542747 2:181678020-181678020
19 NEUROD1 NM_002500.5(NEUROD1):c.793A>C (p.Thr265Pro) SNV Uncertain significance 896250 2:182542795-182542795 2:181678068-181678068
20 NEUROD1 NC_000002.12:g.181676189G>T SNV Uncertain significance 897780 2:182540916-182540916 2:181676189-181676189
21 NEUROD1 NC_000002.12:g.181676207A>G SNV Uncertain significance 897781 2:182540934-182540934 2:181676207-181676207
22 NEUROD1 NC_000002.12:g.181676304T>C SNV Uncertain significance 897782 2:182541031-182541031 2:181676304-181676304
23 NEUROD1 NM_002500.5(NEUROD1):c.*1125T>G SNV Uncertain significance 897783 2:182541392-182541392 2:181676665-181676665
24 NEUROD1 NM_002500.4(NEUROD1):c.750C>A (p.Ser250Arg) SNV Uncertain significance 549508 rs201293992 2:182542838-182542838 2:181678111-181678111
25 NEUROD1 NM_002500.5(NEUROD1):c.473G>A (p.Arg158His) SNV Uncertain significance 897854 2:182543115-182543115 2:181678388-181678388
26 NEUROD1 NM_002500.5(NEUROD1):c.418A>G (p.Ile140Val) SNV Uncertain significance 897855 2:182543170-182543170 2:181678443-181678443
27 NEUROD1 NM_002500.5(NEUROD1):c.311T>G (p.Met104Arg) SNV Uncertain significance 897856 2:182543277-182543277 2:181678550-181678550
28 NEUROD1 NM_002500.5(NEUROD1):c.*907T>C SNV Uncertain significance 898923 2:182541610-182541610 2:181676883-181676883
29 NEUROD1 NM_002500.5(NEUROD1):c.*859C>A SNV Uncertain significance 898924 2:182541658-182541658 2:181676931-181676931
30 NEUROD1 NM_002500.5(NEUROD1):c.*819C>G SNV Uncertain significance 898925 2:182541698-182541698 2:181676971-181676971
31 NEUROD1 NM_002500.5(NEUROD1):c.*795T>C SNV Uncertain significance 898926 2:182541722-182541722 2:181676995-181676995
32 NEUROD1 NM_002500.4(NEUROD1):c.*718C>T SNV Uncertain significance 333024 rs886055320 2:182541799-182541799 2:181677072-181677072
33 NEUROD1 NM_002500.5(NEUROD1):c.1055C>A (p.Ala352Asp) SNV Uncertain significance 896246 2:182542533-182542533 2:181677806-181677806
34 NEUROD1 NM_002500.5(NEUROD1):c.129C>G (p.Leu43=) SNV Uncertain significance 899005 2:182543459-182543459 2:181678732-181678732
35 NEUROD1 NM_002500.5(NEUROD1):c.37G>A (p.Glu13Lys) SNV Uncertain significance 899006 2:182543551-182543551 2:181678824-181678824
36 NEUROD1 NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr) SNV Likely benign 896247 2:182542624-182542624 2:181677897-181677897
37 NEUROD1 NM_002500.5(NEUROD1):c.*719G>A SNV Likely benign 898927 2:182541798-182541798 2:181677071-181677071
38 NEUROD1 NM_002500.5(NEUROD1):c.738G>A (p.Pro246=) SNV Likely benign 897853 2:182542850-182542850 2:181678123-181678123
39 NEUROD1 NM_002500.4(NEUROD1):c.*78C>T SNV Likely benign 333035 rs41270211 2:182542439-182542439 2:181677712-181677712
40 NEUROD1 NM_002500.4(NEUROD1):c.777C>T (p.Ser259=) SNV Likely benign 258771 rs115027760 2:182542811-182542811 2:181678084-181678084
41 NEUROD1 NM_002500.4(NEUROD1):c.-60G>A SNV Likely benign 333040 rs189844846 2:182545205-182545205 2:181680478-181680478
42 NEUROD1 NM_002500.4(NEUROD1):c.*1555C>T SNV Likely benign 333019 rs192155087 2:182540962-182540962 2:181676235-181676235
43 NEUROD1 NM_002500.4(NEUROD1):c.973C>A (p.Arg325Ser) SNV Likely benign 333036 rs368727469 2:182542615-182542615 2:181677888-181677888
44 NEUROD1 NM_002500.4(NEUROD1):c.*1033T>G SNV Benign 333022 rs555224400 2:182541484-182541484 2:181676757-181676757
45 NEUROD1 NM_002500.4(NEUROD1):c.129C>A (p.Leu43=) SNV Benign 333039 rs116321775 2:182543459-182543459 2:181678732-181678732
46 NEUROD1 NM_002500.4(NEUROD1):c.*1595G>A SNV Benign 333018 rs187310461 2:182540922-182540922 2:181676195-181676195
47 NEUROD1 NM_002500.4(NEUROD1):c.-65C>T SNV Benign 333041 rs8192555 2:182545210-182545210 2:181680483-181680483
48 NEUROD1 NM_002500.4(NEUROD1):c.590C>A (p.Pro197His) SNV Benign 129763 rs8192556 2:182542998-182542998 2:181678271-181678271
49 NEUROD1 NM_002500.4(NEUROD1):c.*1339T>C SNV Benign 333020 rs17847284 2:182541178-182541178 2:181676451-181676451
50 NEUROD1 NM_002500.5(NEUROD1):c.*6C>A SNV Benign 896245 2:182542511-182542511 2:181677784-181677784

UniProtKB/Swiss-Prot genetic disease variations for Maturity-Onset Diabetes of the Young, Type 6:

73
# Symbol AA change Variation ID SNP ID
1 NEUROD1 p.Arg103Pro VAR_076552

Expression for Maturity-Onset Diabetes of the Young, Type 6

Search GEO for disease gene expression data for Maturity-Onset Diabetes of the Young, Type 6.

Pathways for Maturity-Onset Diabetes of the Young, Type 6

Pathways related to Maturity-Onset Diabetes of the Young, Type 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.12 PDX1 PAX4 NEUROD1 HNF4A HNF1B HNF1A
2
Show member pathways
12.53 PDX1 KCNJ11 GCK ABCC8
3 12.22 PDX1 NEUROD1 HNF4A HNF1A
4
Show member pathways
11.83 PDX1 NEUROD1 HNF4A HNF1B HNF1A GCK
5 11.75 PDX1 PAX4 NEUROD1 HNF1B
6
Show member pathways
11.5 PDX1 PAX4 NEUROD1 HNF4A HNF1B HNF1A
7 11.28 PDX1 KCNJ11 HNF4A HNF1A GCK ABCC8
8
Show member pathways
11.21 PDX1 NEUROD1 KCNJ11 HNF4A HNF1B HNF1A
9 10.31 HNF4A HNF1A

GO Terms for Maturity-Onset Diabetes of the Young, Type 6

Cellular components related to Maturity-Onset Diabetes of the Young, Type 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.23 PDX1 PAX4 NKX6-2 NEUROD1 KLF11 HNF4A
2 inward rectifying potassium channel GO:0008282 8.96 KCNJ11 ABCC8

Biological processes related to Maturity-Onset Diabetes of the Young, Type 6 according to GeneCards Suite gene sharing:

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.08 PDX1 PAX4 NKX6-2 NEUROD1 HNF4A HNF1A
2 positive regulation of transcription by RNA polymerase II GO:0045944 10.03 PDX1 NEUROD1 HNF4A HNF1B HNF1A
3 regulation of transcription by RNA polymerase II GO:0006357 10.03 PDX1 PAX4 NKX6-2 NEUROD1 KLF11 HNF4A
4 negative regulation of transcription by RNA polymerase II GO:0000122 10.02 PDX1 PAX4 NKX6-2 KLF11 HNF1A
5 cell differentiation GO:0030154 10.01 PDX1 PAX4 NKX6-2 NEUROD1 HNF4A BLK
6 positive regulation of transcription, DNA-templated GO:0045893 9.97 PDX1 NEUROD1 HNF4A HNF1B HNF1A
7 negative regulation of transcription, DNA-templated GO:0045892 9.95 PDX1 PAX4 NKX6-2 KLF11 HNF4A
8 response to drug GO:0042493 9.85 PDX1 PAX4 NEUROD1 KCNJ11 HNF1B ABCC8
9 liver development GO:0001889 9.73 PDX1 HNF1B HNF1A
10 glucose homeostasis GO:0042593 9.72 PDX1 NEUROD1 HNF4A HNF1A GCK
11 response to glucose GO:0009749 9.71 PDX1 NEUROD1 HNF4A HNF1A
12 glucose metabolic process GO:0006006 9.69 PDX1 KCNJ11 GCK
13 positive regulation of insulin secretion GO:0032024 9.67 PDX1 GCK BLK
14 negative regulation of insulin secretion GO:0046676 9.63 KCNJ11 ABCC8
15 cellular glucose homeostasis GO:0001678 9.62 GCK ABCC8
16 signal transduction involved in regulation of gene expression GO:0023019 9.61 NEUROD1 HNF4A
17 positive regulation of transcription initiation from RNA polymerase II promoter GO:0060261 9.6 HNF1B HNF1A
18 nitric oxide mediated signal transduction GO:0007263 9.59 PDX1 NEUROD1
19 inorganic cation transmembrane transport GO:0098662 9.58 KCNJ11 ABCC8
20 hepatocyte differentiation GO:0070365 9.58 HNF4A HNF1B
21 insulin secretion GO:0030073 9.56 PDX1 NEUROD1 HNF1B HNF1A
22 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.52 PDX1 NEUROD1
23 detection of glucose GO:0051594 9.48 PDX1 GCK
24 regulation of pronephros size GO:0035565 9.46 HNF1B HNF1A
25 pancreas development GO:0031016 9.46 PDX1 PAX4 HNF1B HNF1A
26 regulation of insulin secretion GO:0050796 9.35 NEUROD1 KCNJ11 HNF4A GCK ABCC8
27 endocrine pancreas development GO:0031018 9.1 PDX1 PAX4 NKX6-2 NEUROD1 HNF1B HNF1A

Molecular functions related to Maturity-Onset Diabetes of the Young, Type 6 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.97 PDX1 PAX4 NKX6-2 NEUROD1 KLF11 HNF4A
2 sequence-specific double-stranded DNA binding GO:1990837 9.8 PDX1 PAX4 NKX6-2 NEUROD1 KLF11 HNF4A
3 chromatin binding GO:0003682 9.78 PDX1 NEUROD1 HNF4A HNF1A
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.76 PDX1 PAX4 NKX6-2 NEUROD1 KLF11 HNF4A
5 sequence-specific DNA binding GO:0043565 9.73 PDX1 NKX6-2 NEUROD1 HNF4A HNF1B HNF1A
6 transcription regulatory region sequence-specific DNA binding GO:0000976 9.67 KLF11 HNF4A HNF1A
7 double-stranded DNA binding GO:0003690 9.63 PAX4 NEUROD1 HNF1A
8 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 PDX1 PAX4 NKX6-2 NEUROD1 KLF11 HNF4A
9 cation-transporting ATPase activity GO:0019829 9.43 KCNJ11 ABCC8
10 ATP-activated inward rectifier potassium channel activity GO:0015272 9.4 KCNJ11 ABCC8
11 DNA-binding transcription factor activity GO:0003700 9.17 PDX1 NKX6-2 NEUROD1 KLF11 HNF4A HNF1B

Sources for Maturity-Onset Diabetes of the Young, Type 6

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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