Pancreatic Agenesis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MalaCards based summary: Pancreatic Agenesis, also known as partial pancreatic agenesis, is related to heart defects, congenital, and other congenital anomalies and patent ductus arteriosus 1. An important gene associated with Pancreatic Agenesis is PDX1 (Pancreatic And Duodenal Homeobox 1), and among its related pathways/superpathways are Nervous system development and Glucose / Energy Metabolism. Affiliated tissues include pancreas, spleen and liver, and related phenotypes are no effect and no effect

Disease Ontology: ¹¹ 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

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 119)

#	Related Disease	Score	Top Affiliating Genes
1	heart defects, congenital, and other congenital anomalies	33.0	PTF1A PDX1 GATA6
2	patent ductus arteriosus 1	30.1	KCNJ11 INS GATA6 GATA4 ABCC8
3	atrial heart septal defect	29.8	INS GATA6 GATA4 ABCC8
4	type 1 diabetes mellitus	29.8	PDX1 NEUROD1 INS GCK
5	hypoglycemia	29.8	KCNJ11 INS GCK ABCC8
6	monogenic diabetes	29.7	KCNJ11 INS GCK ABCC8
7	maturity-onset diabetes of the young, type 8, with exocrine dysfunction	29.6	RFX6 PDX1 NEUROD1 KCNJ11 GCK ABCC8
8	prediabetes syndrome	29.6	KCNJ11 INS HNF1B GCK ABCC8
9	hyperinsulinism	29.5	KCNJ11 INS GCK FOXA2 ABCC8
10	renal cysts and diabetes syndrome	29.4	RFX6 PTF1A PDX1 NEUROD1 KCNJ11 HNF1B
11	maturity-onset diabetes of the young, type 4	29.4	RFX6 PDX1 NKX6-2 NKX6-1 NEUROG3 NEUROD1
12	neonatal diabetes	29.1	RFX6 PTF1A PDX1 NKX6-2 NKX6-1 NKX2-2
13	diabetes mellitus	28.8	RFX6 PTF1A PDX1 NKX6-1 NEUROG3 NEUROD1
14	permanent neonatal diabetes mellitus	28.6	RFX6 PTF1A PDX1 NKX6-2 NKX6-1 NKX2-2
15	maturity-onset diabetes of the young	28.0	RFX6 PTF1A PDX1 ONECUT1 NKX6-2 NKX6-1
16	holoprosencephaly 12 with or without pancreatic agenesis	11.7
17	pancreatic agenesis 1	11.5
18	pancreatic agenesis 2	11.4
19	pancreas, dorsal, agenesis of	11.4
20	pancreatic and cerebellar agenesis	11.1
21	malignant childhood germ cell neoplasm	10.3	GATA6 GATA4
22	type 1 diabetes mellitus 11	10.3	PDX1 NEUROD1
23	congenital heart defects, multiple types, 4	10.3	GATA6 GATA4
24	diarrhea 4, malabsorptive, congenital	10.3	RFX6 NEUROG3
25	type 1 diabetes mellitus 6	10.3	PDX1 INS
26	diabetes mellitus, neonatal, with congenital hypothyroidism	10.3	RFX6 GLIS3
27	pancreas, annular	10.2	RFX6 PTF1A
28	cardiomyopathy, dilated, 1o	10.2	KCNJ11 ABCC8
29	hyperinsulinemic hypoglycemia, familial, 3	10.2	GCK ABCC8
30	hypoglycemia, leucine-induced	10.2	KCNJ11 ABCC8
31	germ cell and embryonal cancer	10.2	GATA6 GATA4 FOXA2
32	thiamine-responsive megaloblastic anemia syndrome	10.2	RFX6 GLIS3 ABCC8
33	germ cell cancer	10.2	GATA6 GATA4 FOXA2
34	munchausen by proxy	10.2	KCNJ11 GCK ABCC8
35	hyperinsulinemic hypoglycemia, familial, 6	10.2	KCNJ11 GCK ABCC8
36	exocrine pancreatic insufficiency	10.2
37	type 1 diabetes mellitus 12	10.1	KCNJ11 INS
38	fetal erythroblastosis	10.1	KCNJ11 INS ABCC8
39	asphyxia neonatorum	10.1	KCNJ11 INS ABCC8
40	hyperinsulinemic hypoglycemia, familial, 2	10.1	KCNJ11 INS ABCC8
41	fanconi-bickel syndrome	10.1	INS ABCC8
42	polyhydramnios	10.1	INS HNF1B ABCC8
43	diaphragmatic hernia, congenital	10.1
44	fructose-1,6-bisphosphatase deficiency	10.1	GCK ABCC8
45	hyperinsulinemic hypoglycemia, familial, 7	10.1	RFX6 KCNJ11 GCK ABCC8
46	maturity-onset diabetes of the young, type 14	10.1	NEUROD1 KCNJ11 GCK ABCC8
47	teratoma	10.1	MNX1 INS GATA4
48	hypertrichosis	10.1	KCNJ11 INS ABCC8
49	wolfram syndrome 1	10.1	KCNJ11 INS HNF1B ABCC8
50	conotruncal heart malformations	10.0

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

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Symptoms & Phenotypes for Pancreatic Agenesis

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

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.18	ABCC8 CNOT1 FOXA2 GATA4 GATA6 GCK
2	no effect	GR00402-S-2	10.18	ABCC8 FOXA2 GATA4 GATA6 GCK HNF1B
3	shRNA abundance <= 50%	GR00343-S	9.5	GATA4 GCK KCNJ11 NEUROD1 ONECUT1 PDX1

MGI Mouse Phenotypes related to Pancreatic Agenesis:

⁴⁵ (show all 12)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.36	ABCC8 FOXA2 GATA4 GATA6 GCK GLIS3
2	growth/size/body region	MP:0005378	10.3	ABCC8 FOXA2 GATA4 GATA6 GCK GLIS3
3	endocrine/exocrine gland	MP:0005379	10.25	ABCC8 FOXA2 GATA4 GCK GLIS3 HNF1B
4	normal	MP:0002873	10.21	FOXA2 GATA4 GATA6 INS MNX1 NEUROG3
5	no phenotypic analysis	MP:0003012	10.15	ABCC8 GATA4 GLIS3 INS KCNJ11 NEUROG3
6	liver/biliary system	MP:0005370	10.09	FOXA2 GATA4 GATA6 GCK HNF1B INS
7	renal/urinary system	MP:0005367	10.08	GCK GLIS3 HNF1B INS NEUROD1 NEUROG3
8	muscle	MP:0005369	10.06	CNOT1 GATA4 GATA6 HNF1B INS KCNJ11
9	cellular	MP:0005384	10.06	FOXA2 GATA4 GATA6 GCK GLIS3 HNF1B
10	digestive/alimentary	MP:0005381	10	FOXA2 GATA4 HNF1B INS MNX1 NEUROD1
11	cardiovascular system	MP:0005385	9.7	ABCC8 CNOT1 FOXA2 GATA4 GATA6 GCK
12	mortality/aging	MP:0010768	9.6	CNOT1 FOXA2 GATA4 GATA6 GCK GLIS3

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Drugs & Therapeutics for Pancreatic Agenesis

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

Organs/tissues related to Pancreatic Agenesis:

MalaCards : Pancreas, Spleen, Liver, Heart, Uterus, Kidney

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Publications for Pancreatic Agenesis

Articles related to Pancreatic Agenesis:

(show top 50) (show all 119)

#	Title	Authors	PMID	Year
1	Using Human Induced Pluripotent Stem Cell-Derived Organoids to Identify New Pathologies in Patients With PDX1 Mutations. ⁶²	Krishnamurthy M...Wells JM	35803312	2022
2	Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant. ⁶²	Cospain A...Dubourg C	35481434	2022
3	Multidimensional chromatin profiling of zebrafish pancreas to uncover and investigate disease-relevant enhancers. ⁶²	Bordeira-Carrico R...Bessa J	35410466	2022
4	A Rare Case of Dorsal Agenesis of Pancreas, Choledochal Cyst, and Hirschsprung Disease in a Young Patient. ⁶²	Chapa UK...Nelamangala Ramakrishnaiah VP	33928176	2021
5	Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations. ⁶²	Demirbilek H...De Franco E	32893856	2020
6	Genetically engineered pigs manifesting pancreatic agenesis with severe diabetes. ⁶²	Nagaya M...Nagashima H	33257422	2020
7	A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line. ⁶²	Kishore S...Gadue P	32442395	2020
8	Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation. ⁶²	Raghuram N...Chitayat D	32207556	2020
9	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. ⁶²	Miles ML...Jackson G	32524025	2020
10	Agenesis of the dorsal pancreas: a very rare entity causing diabetes mellitus. ⁶²	Dinkhauser P...Hofer H	31797244	2020
11	Performance of endoscopic ultrasound for diagnosis of agenesis of the dorsal pancreas: a case report. ⁶²	Zhong JW...Zhou YH	31680602	2020
12	Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation. ⁶²	Sanchez-Lechuga B...Byrne M	32245430	2020
13	Genes predisposing to neonatal diabetes mellitus and pathophysiology: Current findings. ⁶²	Yahaya TO...Anyebe DA	32333556	2020
14	A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development. ⁶²	De Franco E...Barroso I	31006513	2019
15	Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia. ⁶²	Dotto RP...Reis AF	31066763	2019
16	Rare Cause of Pain Abdomen: Dorsal Pancreatic Agenesis. ⁶²	Bhushan D...Kumar R	31304717	2019
17	Three cases of pancreatic pseudocysts associated with dorsal pancreatic agenesis. ⁶²	Suh PS...Lee D	30377453	2019
18	GATA6 Cooperates with EOMES/SMAD2/3 to Deploy the Gene Regulatory Network Governing Human Definitive Endoderm and Pancreas Formation. ⁶²	Chia CY...Vallier L	30629940	2019
19	Pancreatic hemi-agenesis in MEN1: A clinical report. ⁶²	Vinck WJ...Michils G	29174091	2018
20	GATA6 Controls Insulin Biosynthesis and Secretion in Adult β-Cells. ⁶²	Villamayor L...Rojas A	29263149	2018
21	Genome-wide analysis of PDX1 target genes in human pancreatic progenitors. ⁶²	Wang X...Lickert H	29396371	2018
22	PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease. ⁶²	Caetano LA...Teles MG	28436541	2018
23	Agenesis of dorsal pancreas in a young adult: a rare cause of diabetes mellitus. ⁶²	Sonkar SK...Singh NK	29444795	2018
24	Complete dorsal pancreatic agenesis and unilateral renal agenesis. ⁶²	Moreira A...Jesus JM	29487639	2018
25	The ATPase activity of Asna1/TRC40 is required for pancreatic progenitor cell survival. ⁶²	Norlin S...Edlund H	29180572	2018
26	Laser Capture and Deep Sequencing Reveals the Transcriptomic Programmes Regulating the Onset of Pancreas and Liver Differentiation in Human Embryos. ⁶²	Jennings RE...Hanley NA	29056335	2017
27	Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene. ⁶²	Gabbay M...Moises RS	28663161	2017
28	Role of nutrients and mTOR signaling in the regulation of pancreatic progenitors development. ⁶²	Elghazi L...Bernal-Mizrachi E	28580286	2017
29	Gotta Have GATA for Human Pancreas Development. ⁶²	Lorberbaum DS...Sussel L	28475878	2017
30	Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report. ⁶²	Hilbrands R...Heimberg H	28525974	2017
31	Dependent stomach sign and dependent intestine sign of dorsal pancreatic agenesis. ⁶²	Lal H...Mourya C	27654989	2017
32	Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. ⁶²	Yau D...Mitchell JJ	28049534	2017
33	Isolated Dorsal Pancreatic Agenesis. ⁶²	Shahzad R...Anees A	27981930	2016
34	Generation of a human induced pluripotent stem cell (iPSC) line from a patient carrying a P33T mutation in the PDX1 gene. ⁶²	Wang X...Lickert H	27879211	2016
35	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. ⁶²	Wang X...Lickert H	27879214	2016
36	Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. ⁶²	Houghton JA...Ellard S	27284104	2016
37	Agenesis of the dorsal pancreas: systematic review of a clinical challenge. ⁶²	Cienfuegos JA...Sangro B	27468966	2016
38	Neonatal diabetes and protein losing enteropathy: a case report. ⁶²	McMillan T...Sellers EA	27098067	2016
39	Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model. ⁶²	van de Bunt M...Honore C	27246810	2016
40	Dorsal pancreatic agenesis: description of CT signs. ⁶²	Sandip S...Thingujam U	26976832	2016
41	GATA4 and GATA6 regulate pancreatic endoderm identity through inhibition of hedgehog signaling. ⁶²	Xuan S...Sussel L	26932670	2016
42	Mutations in the noncoding genome. ⁶²	Scacheri CA...Scacheri PC	26382709	2015
43	Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. ⁶²	De Franco E...Ellard S	26210631	2015
44	PDX1 binds and represses hepatic genes to ensure robust pancreatic commitment in differentiating human embryonic stem cells. ⁶²	Teo AK...Dunn NR	25843046	2015
45	A triad of complete dorsal pancreatic agenesis, pancake kidney and bicornuate uterus. An association or an incidental finding: first case in literature. ⁶²	Lal A...Khandelwal N	25791554	2015
46	Maturity-onset diabetes of the young (MODY): an update. ⁶²	Anik A...Bober E	25581748	2015
47	A novel mutation in GATA6 causes pancreatic agenesis. ⁶²	Stanescu DE...De Leon DD	24433315	2015
48	A NEW OBSERVATION OF 13q DELETION SYNDROME: SEVERE UNDESCRIBED FEATURES. ⁶²	Garcia-Rodriguez E...Pavon-Delgado A	26349191	2015
49	Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations. ⁶²	Chao CS...Feldman BJ	25706805	2015
50	Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation. ⁶²	Gonc EN...Kandemir N	26184423	2015

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Genes for Pancreatic Agenesis

Genes related to Pancreatic Agenesis (2 elite genes):

(show all 29)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PDX1	Pancreatic And Duodenal Homeobox 1	Protein Coding	384.8	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	8988180
2	PTF1A	Pancreas Associated Transcription Factor 1a	Protein Coding	375.52	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)	24212882
3	GATA6	GATA Binding Protein 6	Protein Coding	24.82	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
4	CNOT1	CCR4-NOT Transcription Complex Subunit 1	Protein Coding	21.14	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
5	RFX6	Regulatory Factor X6	Protein Coding	7.54	DISEASES inferred ¹⁴
6	NEUROG3	Neurogenin 3	Protein Coding	7.52	DISEASES inferred ¹⁴
7	GATA4	GATA Binding Protein 4	Protein Coding	7.04	DISEASES inferred ¹⁴
8	NKX6-1	NK6 Homeobox 1	Protein Coding	6.93	DISEASES inferred ¹⁴
9	NEUROD1	Neuronal Differentiation 1	Protein Coding	6.92	DISEASES inferred ¹⁴
10	MNX1	Motor Neuron And Pancreas Homeobox 1	Protein Coding	6.87	DISEASES inferred ¹⁴
11	NKX6-2	NK6 Homeobox 2	Protein Coding	6.76	DISEASES inferred ¹⁴
12	HNF1B	HNF1 Homeobox B	Protein Coding	6.71	DISEASES inferred ¹⁴
13	KCNJ11	Potassium Inwardly Rectifying Channel Subfamily J Member 11	Protein Coding	6.71	DISEASES inferred ¹⁴
14	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	6.67	DISEASES inferred ¹⁴
15	NKX2-2	NK2 Homeobox 2	Protein Coding	6.66	DISEASES inferred ¹⁴
16	GLIS3	GLIS Family Zinc Finger 3	Protein Coding	6.55	DISEASES inferred ¹⁴
17	FOXA2	Forkhead Box A2	Protein Coding	6.54	DISEASES inferred ¹⁴
18	GCK	Glucokinase	Protein Coding	6.49	DISEASES inferred ¹⁴
19	ONECUT1	One Cut Homeobox 1	Protein Coding	6.44	DISEASES inferred ¹⁴
20	INS	Insulin	Protein Coding	6.34	DISEASES inferred ¹⁴
21	PAX4	Paired Box 4	Protein Coding	6.28	DISEASES inferred ¹⁴
22	SLC2A2	Solute Carrier Family 2 Member 2	Protein Coding	6.19	DISEASES inferred ¹⁴
23	HNF4A	Hepatocyte Nuclear Factor 4 Alpha	Protein Coding	6.04	DISEASES inferred ¹⁴
24	SOX9	SRY-Box Transcription Factor 9	Protein Coding	6.04	DISEASES inferred ¹⁴
25	PPY	Pancreatic Polypeptide	Protein Coding	5.98	DISEASES inferred ¹⁴
26	MAFB	MAF BZIP Transcription Factor B	Protein Coding	5.96	DISEASES inferred ¹⁴
27	HNF1A	HNF1 Homeobox A	Protein Coding	5.96	DISEASES inferred ¹⁴
28	GCG	Glucagon	Protein Coding	5.91	DISEASES inferred ¹⁴
29	PAX6	Paired Box 6	Protein Coding	5.87	DISEASES inferred ¹⁴

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Variations for Pancreatic Agenesis

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Expression for Pancreatic Agenesis

Search GEO for disease gene expression data for Pancreatic Agenesis.

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Pathways for Pancreatic Agenesis

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

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	Nervous system development ⁶⁶ Show member pathways Axon guidance ⁶⁶ Developmental Biology ⁶⁶	13.49	FOXA2 GATA4 GCK HNF1B INS NEUROD1
2	Glucose / Energy Metabolism ³	12.38	PDX1 NKX6-1 NEUROD1 INS FOXA2
3	Hepatic ABC Transporters ⁶⁴ Show member pathways MODY (Maturity-Onset Diabetes of Young) ⁶⁴	11.94	PDX1 NEUROD1 INS HNF1B GCK FOXA2
4	Regulation of beta-cell development ⁶⁶ Show member pathways Regulation of gene expression in beta cells ⁶⁶ Regulation of gene expression in early pancreatic precursor cells ⁶⁶ Regulation of gene expression in endocrine-committed (NEUROG3+) progenitor cells ⁶⁶ Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells ⁶⁶	11.69	FOXA2 GCK HNF1B INS NEUROD1 NEUROG3
5	Endoderm differentiation ⁷⁴	11.65	ONECUT1 HNF1B GATA6 GATA4 FOXA2
6	Neural Stem Cells and Lineage-specific Markers ⁶⁵	11.62	NKX2-2 NEUROD1 MNX1
7	Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers ⁶⁵	11.49	FOXA2 GATA4 HNF1B INS NEUROD1 NEUROG3
8	Cardiac progenitor differentiation ⁷⁴	11.44	INS GATA4 FOXA2
9	Transcriptional Regulatory Network in Embryonic Stem Cell ⁶⁴	11.43	ONECUT1 NEUROD1 GATA6 GATA4
10	Notch-mediated HES/HEY network ⁶¹	11.41	GATA4 GATA6 NEUROG3 PTF1A
11	Heart development ⁷⁴	11.37	GATA6 GATA4 FOXA2
12	FOXA2 and FOXA3 transcription factor networks ⁶¹ Show member pathways FOXA transcription factor networks ⁶¹	11.37	PDX1 KCNJ11 INS GCK FOXA2 ABCC8
13	Dopaminergic neurogenesis ⁷⁴	11.21	NKX6-1 NKX2-2 NEUROD1 FOXA2
14	"Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics" ⁶⁰	11.15	PDX1 NEUROD1 KCNJ11 INS HNF1B GCK
15	Type II diabetes mellitus ⁷⁴	10.9	PDX1 KCNJ11
16	PTF1A related regulatory pathway ⁷⁴	10.69	PTF1A PDX1 NKX6-1

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GO Terms for Pancreatic Agenesis

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

#	Name	GO ID	Score	Top Affiliating Genes
1	nucleus	GO:0005634	10.37	CNOT1 FOXA2 GATA4 GATA6 GCK GLIS3
2	chromatin	GO:0000785	9.77	FOXA2 GATA4 GATA6 HNF1B MNX1 NEUROD1
3	inward rectifying potassium channel	GO:0008282	9.26	KCNJ11 ABCC8

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

(show all 44)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of transcription by RNA polymerase II	GO:0000122	10.55	CNOT1 GATA4 GATA6 GLIS3 HNF1B MNX1
2	positive regulation of transcription by RNA polymerase II	GO:0045944	10.53	RFX6 PTF1A PDX1 ONECUT1 NKX6-1 NKX2-2
3	regulation of transcription by RNA polymerase II	GO:0006357	10.5	FOXA2 GATA4 GATA6 GLIS3 HNF1B MNX1
4	positive regulation of DNA-templated transcription	GO:0045893	10.49	FOXA2 GATA4 GATA6 HNF1B NEUROD1 NEUROG3
5	response to xenobiotic stimulus	GO:0009410	10.36	ABCC8 GATA4 GATA6 HNF1B KCNJ11 NEUROD1
6	transcription by RNA polymerase II	GO:0006366	10.35	GLIS3 NEUROD1 NKX6-1 PDX1 PTF1A
7	cell differentiation	GO:0030154	10.35	RFX6 PTF1A PDX1 NKX6-2 NKX6-1 NKX2-2
8	glucose homeostasis	GO:0042593	10.29	RFX6 PDX1 NEUROD1 INS GCK
9	glucose metabolic process	GO:0006006	10.24	GCK INS KCNJ11 ONECUT1 PDX1
10	positive regulation of neuron differentiation	GO:0045666	10.23	NEUROD1 NEUROG3 NKX2-2 NKX6-1
11	regulation of DNA-templated transcription	GO:0006355	10.23	FOXA2 GATA4 GATA6 INS MNX1 NEUROD1
12	neuron differentiation	GO:0030182	10.18	PTF1A NKX6-1 NKX2-2 NEUROG3 NEUROD1
13	liver development	GO:0001889	10.17	PDX1 ONECUT1 HNF1B GATA6
14	anatomical structure morphogenesis	GO:0009653	10.15	ONECUT1 GATA6 GATA4 FOXA2
15	positive regulation of insulin secretion	GO:0032024	10.15	PDX1 NKX6-1 GCK
16	regulation of insulin secretion	GO:0050796	10.15	GCK KCNJ11 NEUROD1 NKX6-1 RFX6
17	response to glucose	GO:0009749	10.14	HNF1B NEUROD1 NKX2-2 PDX1
18	insulin secretion	GO:0030073	10.13	PDX1 NEUROD1 HNF1B
19	positive regulation of oligodendrocyte differentiation	GO:0048714	10.11	NKX6-2 NKX6-1 NKX2-2
20	positive regulation of cell differentiation	GO:0045597	10.08	INS NEUROD1 NEUROG3
21	cell fate commitment	GO:0045165	10.06	GATA4 GATA6 NEUROD1 NKX6-2 ONECUT1 PTF1A
22	endoderm development	GO:0007492	10.04	ONECUT1 HNF1B GATA4
23	positive regulation of insulin secretion involved in cellular response to glucose stimulus	GO:0035774	10.04	RFX6 PDX1 KCNJ11 ABCC8
24	transdifferentiation	GO:0060290	10.03	PDX1 NEUROG3 GATA4
25	hindbrain development	GO:0030902	10	PTF1A NEUROG3 NEUROD1 HNF1B
26	atrioventricular canal development	GO:0036302	9.99	GATA6 GATA4
27	intestinal epithelial cell differentiation	GO:0060575	9.99	GATA6 GATA4
28	neurogenesis	GO:0022008	9.99	NKX6-1 NEUROG3 NEUROD1
29	detection of glucose	GO:0051594	9.99	PDX1 NKX6-1 GCK
30	amacrine cell differentiation	GO:0035881	9.98	PTF1A NEUROD1
31	exocrine pancreas development	GO:0031017	9.98	PTF1A PDX1
32	atrioventricular node development	GO:0003162	9.97	GATA4 GATA6
33	pancreas development	GO:0031016	9.97	PTF1A PDX1 ONECUT1 NKX6-1 HNF1B GATA6
34	positive regulation of cardioblast differentiation	GO:0051891	9.96	GATA4 GATA6
35	negative regulation of type B pancreatic cell apoptotic process	GO:2000675	9.96	NEUROD1 PDX1
36	oligodendrocyte differentiation	GO:0048709	9.96	NKX6-2 NKX6-1 NKX2-2
37	pancreatic PP cell fate commitment	GO:0003329	9.92	NKX2-2 NEUROD1
38	pancreatic A cell fate commitment	GO:0003326	9.91	NKX2-2 NEUROD1
39	pancreatic D cell differentiation	GO:0003311	9.91	RFX6 ONECUT1
40	enteroendocrine cell differentiation	GO:0035883	9.85	PDX1 ONECUT1 NEUROD1
41	pancreatic A cell differentiation	GO:0003310	9.85	RFX6 ONECUT1 NKX6-2 NKX6-1 GATA6
42	system development	GO:0048731	9.69	GATA6 GATA4
43	type B pancreatic cell differentiation	GO:0003309	9.65	GATA6 NKX2-2 NKX6-1 ONECUT1 PDX1 RFX6
44	endocrine pancreas development	GO:0031018	9.5	RFX6 PDX1 ONECUT1 NKX6-2 NKX6-1 NKX2-2

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	RNA polymerase II cis-regulatory region sequence-specific DNA binding	GO:0000978	10.39	FOXA2 GATA4 GATA6 GLIS3 HNF1B NEUROD1
2	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	10.33	FOXA2 GATA4 GATA6 GLIS3 HNF1B MNX1
3	sequence-specific double-stranded DNA binding	GO:1990837	10.32	PTF1A PDX1 ONECUT1 NKX6-2 NEUROD1 MNX1
4	DNA-binding transcription activator activity, RNA polymerase II-specific	GO:0001228	10.31	GATA4 GLIS3 NEUROD1 NEUROG3 NKX2-2 ONECUT1
5	DNA binding	GO:0003677	10.3	FOXA2 GATA4 GATA6 GLIS3 HNF1B MNX1
6	chromatin binding	GO:0003682	10.22	GATA6 NEUROD1 NKX6-1 ONECUT1 PDX1 PTF1A
7	DNA-binding transcription repressor activity, RNA polymerase II-specific	GO:0001227	10.18	NKX6-2 NKX6-1 NEUROG3 MNX1 GLIS3
8	transcription cis-regulatory region binding	GO:0000976	10.11	RFX6 HNF1B GATA6 GATA4 FOXA2
9	DNA-binding transcription factor activity	GO:0003700	9.93	FOXA2 GATA4 GATA6 HNF1B NEUROD1 NEUROG3
10	cis-regulatory region sequence-specific DNA binding	GO:0000987	9.83	NKX2-2 HNF1B GATA6 GATA4
11	NFAT protein binding	GO:0051525	9.81	GATA6 GATA4
12	ATP-activated inward rectifier potassium channel activity	GO:0015272	9.8	KCNJ11 ABCC8
13	sequence-specific DNA binding	GO:0043565	9.44	PTF1A PDX1 NKX6-2 NKX6-1 NKX2-2 NEUROD1

Sources

Sources for Pancreatic Agenesis

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 24-Oct-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: PNC045 MIFTS: 39	Pancreatic Agenesis Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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