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MCID: PNC045
MIFTS: 37

Pancreatic Agenesis

Categories: Endocrine diseases, Genetic diseases
Genes Tissues Related diseases Publications Pathways
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Aliases & Classifications for Pancreatic Agenesis

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MalaCards integrated aliases for Pancreatic Agenesis:

Name: Pancreatic Agenesis 12 36 15
Pancreatic Agenesis, Congenital 71
Partial Pancreatic Agenesis 12
Agenesis, Pancreatic 39

Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Endocrine diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0050877
KEGG 36 H00861
UMLS 71 C1850096
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Summaries for Pancreatic Agenesis

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KEGG : 36 Pancreatic agenesis is a rare disorder resulted from a failure of the pancreas to develop. It can be associated with the severe form of permanent neonatal diabetes mellitus. Mutations in insulin promoter factor 1 (IPF1), an essential factor for pancreas development, decrease the protein level and lead to the disease.

MalaCards based summary : Pancreatic Agenesis, also known as pancreatic agenesis, congenital, is related to pancreas, dorsal, agenesis of and diabetes mellitus, permanent neonatal 1. An important gene associated with Pancreatic Agenesis is PDX1 (Pancreatic And Duodenal Homeobox 1), and among its related pathways/superpathways are Developmental Biology and Aldosterone synthesis and secretion. Affiliated tissues include pancreas, heart and liver, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth.

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Related Diseases for Pancreatic Agenesis

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Diseases in the Pancreatic Agenesis family:

Pancreatic Agenesis 1 Pancreatic Agenesis 2

Diseases related to Pancreatic Agenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 pancreas, dorsal, agenesis of 33.6 PTF1A PDX1
2 diabetes mellitus, permanent neonatal 1 30.1 PDX1 KCNJ11 INS GCK ABCC8
3 hyperglycemia 29.9 PDX1 KCNJ11 INS GCK ABCC8
4 hypoglycemia 29.8 KCNJ11 INS GCK ABCC8
5 hyperinsulinism 29.7 KCNJ11 INS GCK ABCC8
6 diabetes mellitus, permanent neonatal 4 29.2 RFX6 PTF1A PDX1 NEUROD1 KCNJ11 INS
7 monogenic diabetes 29.0 PDX1 KCNJ11 INS HNF1B GCK GATA6
8 diabetes mellitus 28.9 PTF1A PDX1 NEUROD1 KCNJ11 INS HNF1B
9 maturity-onset diabetes of the young, type 4 27.4 PDX1 ONECUT1 NKX6-1 NEUROG3 NEUROD1 KCNJ11
10 neonatal diabetes mellitus 25.7 RFX6 PTF1A PDX1 ONECUT1 NKX6-2 NKX6-1
11 maturity-onset diabetes of the young 24.7 RFX6 PTF1A PDX1 ONECUT1 NKX6-2 NKX6-1
12 pancreatic agenesis 1 12.7
13 holoprosencephaly 12 with or without pancreatic agenesis 12.7
14 pancreatic agenesis 2 12.7
15 heart defects, congenital, and other congenital anomalies 12.5
16 pancreatic agenesis-holoprosencephaly syndrome 12.3
17 malignant childhood germ cell neoplasm 10.4 GATA6 GATA4
18 complete atrioventricular septal defect with ventricular hypoplasia 10.3 GATA6 GATA4
19 partial atrioventricular canal 10.3 GATA6 GATA4
20 hyperinsulinemic hypoglycemia, familial, 6 10.3 GCK ABCC8
21 type 1 diabetes mellitus 11 10.3 PDX1 NEUROD1
22 munchausen by proxy 10.3 KCNJ11 GCK ABCC8
23 fanconi-bickel syndrome 10.3 INS ABCC8
24 fructose-1,6-bisphosphatase deficiency 10.2 GCK ABCC8
25 acute insulin response 10.2 KCNJ11 INS ABCC8
26 asphyxia neonatorum 10.2 KCNJ11 INS ABCC8
27 intestinal atresia 10.2 RFX6 PDX1 GCK
28 diabetes mellitus, ketosis-prone 10.2 KCNJ11 INS ABCC8
29 maturity-onset diabetes of the young, type 14 10.2 PDX1 NEUROD1 GCK
30 hyperinsulinemic hypoglycemia, familial, 2 10.2 KCNJ11 INS ABCC8
31 carbohydrate metabolic disorder 10.1 KCNJ11 INS ABCC8
32 hypogonadotropic hypogonadism 5 with or without anosmia 10.1 GATA6 GATA4
33 epiphyseal dysplasia, multiple, with early-onset diabetes mellitus 10.1 PTF1A KCNJ11 INS ABCC8
34 diarrhea 4, malabsorptive, congenital 10.1 RFX6 NEUROG3 NEUROD1
35 diaphragmatic hernia, congenital 10.1
36 exocrine pancreatic insufficiency 10.1
37 hyperinsulinemic hypoglycemia, familial, 7 10.1 RFX6 KCNJ11 GCK ABCC8
38 maturity-onset diabetes of the young, type 11 10.1 PDX1 NEUROD1 KCNJ11 ABCC8
39 tricuspid atresia 10.0 GATA6 GATA4
40 46,xy partial gonadal dysgenesis 10.0 SOX9 GATA4
41 gestational diabetes 10.0 KCNJ11 INS GCK ABCC8
42 patent ductus arteriosus 1 10.0
43 heart septal defect 10.0
44 glucose intolerance 10.0 KCNJ11 INS GCK ABCC8
45 ventricular septal defect 9.9
46 cardiomyopathy, dilated, 1o 9.9 KCNJ11 ABCC8
47 46,xy sex reversal 9 9.9 SOX9 GATA4
48 maturity-onset diabetes of the young, type 13 9.9 PDX1 NEUROD1 KCNJ11 GCK ABCC8
49 maturity-onset diabetes of the young, type 10 9.9 PDX1 NEUROD1 KCNJ11 INS ABCC8
50 insulinoma 9.8 PDX1 NEUROD1 INS GCK ABCC8

Graphical network of the top 20 diseases related to Pancreatic Agenesis:



Diseases related to Pancreatic Agenesis
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Symptoms & Phenotypes for Pancreatic Agenesis

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GenomeRNAi Phenotypes related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.55 GCK
2 Decreased viability GR00221-A-2 9.55 GCK
3 Decreased viability GR00221-A-3 9.55 GCK
4 Decreased viability GR00221-A-4 9.55 GCK
5 Decreased viability GR00249-S 9.55 CNOT1 HNF1B MNX1 SOX9
6 Decreased viability GR00386-A-1 9.55 FOXA2 GATA6 HNF1B MNX1 NKX2-2
7 Decreased viability GR00402-S-2 9.55 CNOT1 NEUROG3 NKX2-2 SOX9

MGI Mouse Phenotypes related to Pancreatic Agenesis:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.44 FOXA2 GATA4 GATA6 GCK HNF1B INS
2 endocrine/exocrine gland MP:0005379 10.42 ABCC8 FOXA2 GATA4 GCK HNF1B INS
3 homeostasis/metabolism MP:0005376 10.41 ABCC8 FOXA2 GATA4 GATA6 GCK HNF1B
4 growth/size/body region MP:0005378 10.38 FOXA2 GATA4 GATA6 GCK HNF1B INS
5 mortality/aging MP:0010768 10.38 CNOT1 FOXA2 GATA4 GATA6 GCK HNF1B
6 cardiovascular system MP:0005385 10.29 CNOT1 FOXA2 GATA4 GATA6 GCK INS
7 digestive/alimentary MP:0005381 10.26 FOXA2 GATA4 INS MNX1 NEUROD1 NEUROG3
8 embryo MP:0005380 10.11 FOXA2 GATA4 GATA6 HNF1B INS NKX2-2
9 liver/biliary system MP:0005370 10.09 FOXA2 GATA4 GATA6 GCK HNF1B INS
10 nervous system MP:0003631 10.06 FOXA2 GATA4 INS KCNJ11 MNX1 NEUROD1
11 muscle MP:0005369 10.02 CNOT1 GATA4 GATA6 HNF1B INS KCNJ11
12 no phenotypic analysis MP:0003012 9.91 ABCC8 GATA4 INS KCNJ11 NEUROG3 NKX6-1
13 normal MP:0002873 9.9 FOXA2 GATA4 GATA6 INS MNX1 NEUROG3
14 renal/urinary system MP:0005367 9.56 GCK HNF1B INS NEUROD1 NEUROG3 NKX6-2
15 respiratory system MP:0005388 9.17 FOXA2 GATA4 GATA6 MNX1 NEUROD1 PTF1A
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Drugs & Therapeutics for Pancreatic Agenesis

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Search Clinical Trials , NIH Clinical Center for Pancreatic Agenesis

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Genetic Tests for Pancreatic Agenesis

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Anatomical Context for Pancreatic Agenesis

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MalaCards organs/tissues related to Pancreatic Agenesis:

40
Pancreas, Heart, Liver, Kidney, Uterus
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Publications for Pancreatic Agenesis

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Articles related to Pancreatic Agenesis:

(show top 50) (show all 111)
# Title Authors PMID Year
1
Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation. 61
32207556 2020
2
A NONSENSE GATA6 MUTATION EXPLAINS HISTORY OF CONGENITAL HEART DEFECTS AND 10 YEARS OF POORLY-CONTROLLED DIABETES LACKING DKA IN A NON-OBESE 30 YEAR-OLD INCIDENTALLY FOUND TO HAVE PANCREATIC HYPOPLASIA. 61
32524025 2020
3
A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line. 61
32442395 2020
4
Performance of endoscopic ultrasound for diagnosis of agenesis of the dorsal pancreas: a case report. 61
31680602 2020
5
Agenesis of the dorsal pancreas: a very rare entity causing diabetes mellitus. 61
31797244 2020
6
Genes predisposing to neonatal diabetes mellitus and pathophysiology: Current findings. 61
32333556 2020
7
Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation. 61
32245430 2020
8
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development. 61
31006513 2019
9
Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia. 61
31066763 2019
10
Rare Cause of Pain Abdomen: Dorsal Pancreatic Agenesis. 61
31304717 2019
11
GATA6 Cooperates with EOMES/SMAD2/3 to Deploy the Gene Regulatory Network Governing Human Definitive Endoderm and Pancreas Formation. 61
30629940 2019
12
Three cases of pancreatic pseudocysts associated with dorsal pancreatic agenesis. 61
30377453 2019
13
Pancreatic hemi-agenesis in MEN1: A clinical report. 61
29174091 2018
14
Genome-wide analysis of PDX1 target genes in human pancreatic progenitors. 61
29396371 2018
15
GATA6 Controls Insulin Biosynthesis and Secretion in Adult β-Cells. 61
29263149 2018
16
Agenesis of dorsal pancreas in a young adult: a rare cause of diabetes mellitus. 61
29444795 2018
17
PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease. 61
28436541 2018
18
Complete dorsal pancreatic agenesis and unilateral renal agenesis. 61
29487639 2018
19
The ATPase activity of Asna1/TRC40 is required for pancreatic progenitor cell survival. 61
29180572 2018
20
Laser Capture and Deep Sequencing Reveals the Transcriptomic Programmes Regulating the Onset of Pancreas and Liver Differentiation in Human Embryos. 61
29056335 2017
21
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene. 61
28663161 2017
22
Role of nutrients and mTOR signaling in the regulation of pancreatic progenitors development. 61
28580286 2017
23
Gotta Have GATA for Human Pancreas Development. 61
28475878 2017
24
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report. 61
28525974 2017
25
Dependent stomach sign and dependent intestine sign of dorsal pancreatic agenesis. 61
27654989 2017
26
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. 61
28049534 2017
27
Isolated Dorsal Pancreatic Agenesis. 61
27981930 2016
28
Generation of a human induced pluripotent stem cell (iPSC) line from a patient carrying a P33T mutation in the PDX1 gene. 61
27879211 2016
29
Generation of a human induced pluripotent stem cell (iPSC) line from a patient with family history of diabetes carrying a C18R mutation in the PDX1 gene. 61
27879214 2016
30
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. 61
27284104 2016
31
Agenesis of the dorsal pancreas: systematic review of a clinical challenge. 61
27468966 2016
32
Neonatal diabetes and protein losing enteropathy: a case report. 61
27098067 2016
33
Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model. 61
27246810 2016
34
GATA4 and GATA6 regulate pancreatic endoderm identity through inhibition of hedgehog signaling. 61
26932670 2016
35
Dorsal pancreatic agenesis: description of CT signs. 61
26976832 2016
36
Mutations in the noncoding genome. 61
26382709 2015
37
Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. 61
26210631 2015
38
PDX1 binds and represses hepatic genes to ensure robust pancreatic commitment in differentiating human embryonic stem cells. 61
25843046 2015
39
A triad of complete dorsal pancreatic agenesis, pancake kidney and bicornuate uterus. An association or an incidental finding: first case in literature. 61
25791554 2015
40
Maturity-onset diabetes of the young (MODY): an update. 61
25581748 2015
41
A novel mutation in GATA6 causes pancreatic agenesis. 61
24433315 2015
42
A NEW OBSERVATION OF 13q DELETION SYNDROME: SEVERE UNDESCRIBED FEATURES. 61
26349191 2015
43
Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation. 61
26184423 2015
44
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations. 61
25706805 2015
45
An unusual association of inflammatory pseudotumor of the liver and dorsal pancreatic agenesis presenting as reversible portal hypertension: a case report. 61
25584257 2014
46
GATA4 mutations are a cause of neonatal and childhood-onset diabetes. 61
24696446 2014
47
Screening of diabetes of youth for hepatocyte nuclear factor 1 mutations: clinical phenotype of HNF1β-related maturity-onset diabetes of the young and HNF1α-related maturity-onset diabetes of the young in Japanese. 61
24905847 2014
48
MR in complete dorsal pancreatic agenesis: Case report and review of literature. 61
25024525 2014
49
Many faces of monogenic diabetes. 61
24843749 2014
50
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. 61
24385578 2014
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Variations for Pancreatic Agenesis

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Expression for Pancreatic Agenesis

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Search GEO for disease gene expression data for Pancreatic Agenesis.
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Pathways for Pancreatic Agenesis

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Pathways related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Developmental Biology 65
Show member pathways
 13.31 RFX6 PTF1A PDX1 ONECUT1 NKX6-1 NKX2-2
2
Aldosterone synthesis and secretion 36
Show member pathways
 12.73 PDX1 KCNJ11 INS GCK ABCC8
3
Glucose / Energy Metabolism 4
12.4 PDX1 NKX6-1 NEUROD1 INS FOXA2
4
Mesodermal Commitment Pathway 1
Show member pathways
 12.37 ONECUT1 HNF1B GATA6 GATA4 FOXA2
5
Hepatic ABC Transporters 63
Show member pathways
 11.94 PDX1 NEUROD1 INS HNF1B GCK FOXA2
6
Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers 64
11.86 SOX9 PTF1A PDX1 ONECUT1 NKX6-1 NKX2-2
7
Mesenchymal Stem Cells and Lineage-specific Markers 64
11.7 SOX9 INS GATA4
8
Type II diabetes mellitus 36 1
Show member pathways
 11.68 PDX1 NEUROD1 KCNJ11 INS HNF1B GCK
9
Neural Stem Cells and Lineage-specific Markers 64
11.66 SOX9 NKX2-2 NEUROD1 MNX1
10
Cardiac Progenitor Differentiation 1
11.44 INS GATA4 FOXA2
11
Regulation of beta-cell development 65
Show member pathways
 11.44 RFX6 PTF1A PDX1 ONECUT1 NKX6-1 NKX2-2
12
Notch-mediated HES/HEY network 1
11.42 PTF1A NEUROG3 GATA6 GATA4
13
Transcriptional Regulatory Network in Embryonic Stem Cell 63
11.4 ONECUT1 NEUROD1 GATA6 GATA4
14
FOXA2 and FOXA3 transcription factor networks 1
11.38 PDX1 KCNJ11 INS GCK FOXA2 ABCC8
15
Heart Development 1
11.36 GATA6 GATA4 FOXA2
16
Dopaminergic Neurogenesis 1
11.18 NKX6-1 NKX2-2 NEUROD1 FOXA2
Sources

GO Terms for Pancreatic Agenesis

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Cellular components related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.89 SOX9 RFX6 PTF1A PDX1 ONECUT1 NKX6-2
2 transcription factor complex GO:0005667 9.56 SOX9 PTF1A HNF1B GATA6
3 nuclear chromatin GO:0000790 9.5 SOX9 RFX6 PTF1A PDX1 ONECUT1 NKX6-2
4 inward rectifying potassium channel GO:0008282 9.16 KCNJ11 ABCC8

Biological processes related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

(show top 50) (show all 51)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.24 RFX6 PTF1A PDX1 NKX6-2 NKX6-1 NKX2-2
2 regulation of transcription by RNA polymerase II GO:0006357 10.2 SOX9 RFX6 PTF1A PDX1 ONECUT1 NKX6-1
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.19 SOX9 PDX1 NKX6-2 NKX6-1 NEUROG3 HNF1B
4 cell differentiation GO:0030154 10.17 SOX9 RFX6 PTF1A PDX1 ONECUT1 NKX6-2
5 positive regulation of transcription, DNA-templated GO:0045893 10.13 SOX9 RFX6 PTF1A PDX1 NEUROD1 HNF1B
6 response to drug GO:0042493 10.06 PDX1 NKX6-1 NEUROD1 KCNJ11 HNF1B GATA6
7 regulation of transcription, DNA-templated GO:0006355 10.03 SOX9 RFX6 PTF1A PDX1 ONECUT1 NKX6-2
8 glucose homeostasis GO:0042593 9.97 RFX6 PDX1 NEUROD1 INS GCK
9 central nervous system development GO:0007417 9.96 SOX9 PDX1 NEUROG3 MNX1
10 positive regulation of DNA-binding transcription factor activity GO:0051091 9.92 NKX6-1 NKX2-2 NEUROG3 NEUROD1
11 positive regulation of neuron differentiation GO:0045666 9.91 NKX6-1 NKX2-2 NEUROG3 NEUROD1
12 liver development GO:0001889 9.9 PDX1 ONECUT1 HNF1B GATA6
13 response to organic cyclic compound GO:0014070 9.89 PDX1 NKX2-2 HNF1B
14 response to glucose GO:0009749 9.89 PDX1 NKX2-2 NEUROD1 HNF1B
15 glucose metabolic process GO:0006006 9.89 PDX1 ONECUT1 KCNJ11 INS GCK
16 Notch signaling pathway GO:0007219 9.88 SOX9 ONECUT1 HNF1B
17 positive regulation of cell differentiation GO:0045597 9.88 NKX2-2 NEUROG3 NEUROD1 INS
18 male gonad development GO:0008584 9.87 SOX9 GATA6 GATA4
19 smoothened signaling pathway GO:0007224 9.87 PDX1 NKX6-1 NKX2-2
20 cellular response to glucose stimulus GO:0071333 9.86 NEUROD1 KCNJ11 GATA4
21 neurogenesis GO:0022008 9.85 NKX6-1 NEUROG3 NEUROD1
22 regulation of insulin secretion GO:0050796 9.85 RFX6 NKX6-1 NEUROD1 KCNJ11 GCK ABCC8
23 positive regulation of insulin secretion GO:0032024 9.84 PDX1 NKX6-1 GCK
24 hindbrain development GO:0030902 9.83 PTF1A NEUROG3 NEUROD1 HNF1B
25 oligodendrocyte differentiation GO:0048709 9.81 SOX9 NKX6-2 NKX6-1
26 insulin secretion GO:0030073 9.81 PDX1 NEUROD1 HNF1B
27 endoderm development GO:0007492 9.8 ONECUT1 HNF1B GATA4
28 cell fate commitment GO:0045165 9.8 SOX9 PTF1A ONECUT1 NEUROD1 GATA6 GATA4
29 positive regulation of transcription by RNA polymerase II GO:0045944 9.8 SOX9 RFX6 PTF1A PDX1 ONECUT1 NKX6-2
30 transdifferentiation GO:0060290 9.73 PDX1 NEUROG3 GATA4
31 pancreas development GO:0031016 9.73 PTF1A PDX1 ONECUT1 NKX6-1 HNF1B GATA6
32 nitric oxide mediated signal transduction GO:0007263 9.71 PDX1 NEUROD1
33 type B pancreatic cell differentiation GO:0003309 9.71 RFX6 PDX1 NKX6-1 GATA6
34 negative regulation of gluconeogenesis GO:0045721 9.7 INS GCK
35 positive regulation of glycogen biosynthetic process GO:0045725 9.7 INS GCK
36 type B pancreatic cell development GO:0003323 9.7 NKX6-1 NKX2-2
37 intestinal epithelial cell differentiation GO:0060575 9.69 GATA6 GATA4
38 detection of glucose GO:0051594 9.69 PDX1 NKX6-1 GCK
39 inorganic cation transmembrane transport GO:0098662 9.68 KCNJ11 ABCC8
40 exocrine pancreas development GO:0031017 9.68 PTF1A PDX1
41 negative regulation of type B pancreatic cell apoptotic process GO:2000675 9.68 PDX1 NEUROD1
42 positive regulation of cardioblast differentiation GO:0051891 9.67 GATA6 GATA4
43 positive regulation of glial cell differentiation GO:0045687 9.67 NKX6-2 NKX6-1
44 amacrine cell differentiation GO:0035881 9.67 PTF1A NEUROD1
45 regulation of transcription from RNA polymerase II promoter involved in ventral spinal cord interneuron specification GO:0021913 9.65 NKX6-2 NKX6-1
46 negative regulation of glial cell differentiation GO:0045686 9.65 NKX6-2 NKX6-1
47 regulation of transcription from RNA polymerase II promoter involved in spinal cord motor neuron fate specification GO:0021912 9.65 NKX6-2 NKX6-1
48 pancreatic A cell differentiation GO:0003310 9.64 RFX6 GATA6
49 pancreatic PP cell fate commitment GO:0003329 9.62 NKX2-2 NEUROD1
50 pancreatic A cell fate commitment GO:0003326 9.61 NKX2-2 NEUROD1

Molecular functions related to Pancreatic Agenesis according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.2 SOX9 RFX6 PTF1A PDX1 ONECUT1 NKX6-2
2 sequence-specific DNA binding GO:0043565 10.03 SOX9 PTF1A PDX1 NKX6-2 NKX6-1 NKX2-2
3 DNA-binding transcription factor activity GO:0003700 10 SOX9 RFX6 PDX1 ONECUT1 NKX6-2 NKX6-1
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.98 SOX9 RFX6 PTF1A ONECUT1 NEUROG3 NEUROD1
5 chromatin binding GO:0003682 9.97 SOX9 PTF1A PDX1 ONECUT1 NKX6-1 NKX2-2
6 transcription factor binding GO:0008134 9.93 PDX1 NKX2-2 NEUROD1 GATA6 GATA4 FOXA2
7 transcription regulatory region sequence-specific DNA binding GO:0000976 9.89 SOX9 RFX6 GATA6 GATA4 FOXA2
8 transcription regulatory region DNA binding GO:0044212 9.88 SOX9 RFX6 HNF1B GATA6 GATA4 FOXA2
9 transcription coactivator activity GO:0003713 9.84 NKX2-2 NEUROG3 NEUROD1 GATA4
10 proximal promoter sequence-specific DNA binding GO:0000987 9.78 SOX9 NKX2-2 HNF1B GATA4
11 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.77 SOX9 RFX6 PTF1A PDX1 ONECUT1 NKX6-2
12 cation-transporting ATPase activity GO:0019829 9.52 KCNJ11 ABCC8
13 ATP-activated inward rectifier potassium channel activity GO:0015272 9.51 KCNJ11 ABCC8
14 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 SOX9 RFX6 PTF1A PDX1 ONECUT1 NKX6-2
Sources

Sources for Pancreatic Agenesis

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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