MCID: PNC045
MIFTS: 39

Pancreatic Agenesis

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases
Data Licensing
For inquiries, contact:

Aliases & Classifications for Pancreatic Agenesis

MalaCards integrated aliases for Pancreatic Agenesis:

Name: Pancreatic Agenesis 11 14
Partial Pancreatic Agenesis 11 58
Partial Agenesis of the Pancreas 58
Pancreatic Agenesis, Congenital 71
Congenital Pancreatic Agenesis 58
Agenesis, Pancreatic 38

Characteristics:


Inheritance:

Partial Pancreatic Agenesis: Autosomal recessive 58

Prevelance:

Partial Pancreatic Agenesis: <1/1000000 (Worldwide) 58

Age Of Onset:

Partial Pancreatic Agenesis: Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0050877
ICD10 via Orphanet 32 Q45.0
UMLS via Orphanet 72 C1850096
Orphanet 58 ORPHA2805
ICD11 33 634711891
UMLS 71 C1850096

Summaries for Pancreatic Agenesis

Orphanet: 58 Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.

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.

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:



Diseases related to Pancreatic Agenesis

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

Drugs & Therapeutics for Pancreatic Agenesis

Search Clinical Trials, NIH Clinical Center for Pancreatic Agenesis

Genetic Tests for Pancreatic Agenesis

Anatomical Context for Pancreatic Agenesis

Organs/tissues related to Pancreatic Agenesis:

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

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
35803312 2022
2
Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant. 62
35481434 2022
3
Multidimensional chromatin profiling of zebrafish pancreas to uncover and investigate disease-relevant enhancers. 62
35410466 2022
4
A Rare Case of Dorsal Agenesis of Pancreas, Choledochal Cyst, and Hirschsprung Disease in a Young Patient. 62
33928176 2021
5
Clinical Characteristics and Long-term Follow-up of Patients with Diabetes Due To PTF1A Enhancer Mutations. 62
32893856 2020
6
Genetically engineered pigs manifesting pancreatic agenesis with severe diabetes. 62
33257422 2020
7
A Non-Coding Disease Modifier of Pancreatic Agenesis Identified by Genetic Correction in a Patient-Derived iPSC Line. 62
32442395 2020
8
Congenital hypothyroidism, cardiac defects, and pancreatic agenesis in an infant with GATA6 mutation. 62
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
32524025 2020
10
Agenesis of the dorsal pancreas: a very rare entity causing diabetes mellitus. 62
31797244 2020
11
Performance of endoscopic ultrasound for diagnosis of agenesis of the dorsal pancreas: a case report. 62
31680602 2020
12
Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation. 62
32245430 2020
13
Genes predisposing to neonatal diabetes mellitus and pathophysiology: Current findings. 62
32333556 2020
14
A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development. 62
31006513 2019
15
Searching for mutations in the HNF1B gene in a Brazilian cohort with renal cysts and hyperglycemia. 62
31066763 2019
16
Rare Cause of Pain Abdomen: Dorsal Pancreatic Agenesis. 62
31304717 2019
17
Three cases of pancreatic pseudocysts associated with dorsal pancreatic agenesis. 62
30377453 2019
18
GATA6 Cooperates with EOMES/SMAD2/3 to Deploy the Gene Regulatory Network Governing Human Definitive Endoderm and Pancreas Formation. 62
30629940 2019
19
Pancreatic hemi-agenesis in MEN1: A clinical report. 62
29174091 2018
20
GATA6 Controls Insulin Biosynthesis and Secretion in Adult β-Cells. 62
29263149 2018
21
Genome-wide analysis of PDX1 target genes in human pancreatic progenitors. 62
29396371 2018
22
PDX1 -MODY and dorsal pancreatic agenesis: New phenotype of a rare disease. 62
28436541 2018
23
Agenesis of dorsal pancreas in a young adult: a rare cause of diabetes mellitus. 62
29444795 2018
24
Complete dorsal pancreatic agenesis and unilateral renal agenesis. 62
29487639 2018
25
The ATPase activity of Asna1/TRC40 is required for pancreatic progenitor cell survival. 62
29180572 2018
26
Laser Capture and Deep Sequencing Reveals the Transcriptomic Programmes Regulating the Onset of Pancreas and Liver Differentiation in Human Embryos. 62
29056335 2017
27
Pancreatic Agenesis due to Compound Heterozygosity for a Novel Enhancer and Truncating Mutation in the PTF1A Gene. 62
28663161 2017
28
Role of nutrients and mTOR signaling in the regulation of pancreatic progenitors development. 62
28580286 2017
29
Gotta Have GATA for Human Pancreas Development. 62
28475878 2017
30
Pancreas and gallbladder agenesis in a newborn with semilobar holoprosencephaly, a case report. 62
28525974 2017
31
Dependent stomach sign and dependent intestine sign of dorsal pancreatic agenesis. 62
27654989 2017
32
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus. 62
28049534 2017
33
Isolated Dorsal Pancreatic Agenesis. 62
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
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
27879214 2016
36
Isolated Pancreatic Aplasia Due to a Hypomorphic PTF1A Mutation. 62
27284104 2016
37
Agenesis of the dorsal pancreas: systematic review of a clinical challenge. 62
27468966 2016
38
Neonatal diabetes and protein losing enteropathy: a case report. 62
27098067 2016
39
Insights into islet development and biology through characterization of a human iPSC-derived endocrine pancreas model. 62
27246810 2016
40
Dorsal pancreatic agenesis: description of CT signs. 62
26976832 2016
41
GATA4 and GATA6 regulate pancreatic endoderm identity through inhibition of hedgehog signaling. 62
26932670 2016
42
Mutations in the noncoding genome. 62
26382709 2015
43
Genome, Exome, and Targeted Next-Generation Sequencing in Neonatal Diabetes. 62
26210631 2015
44
PDX1 binds and represses hepatic genes to ensure robust pancreatic commitment in differentiating human embryonic stem cells. 62
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
25791554 2015
46
Maturity-onset diabetes of the young (MODY): an update. 62
25581748 2015
47
A novel mutation in GATA6 causes pancreatic agenesis. 62
24433315 2015
48
A NEW OBSERVATION OF 13q DELETION SYNDROME: SEVERE UNDESCRIBED FEATURES. 62
26349191 2015
49
Novel GATA6 mutations in patients with pancreatic agenesis and congenital heart malformations. 62
25706805 2015
50
Variable Phenotype of Diabetes Mellitus in Siblings with a Homozygous PTF1A Enhancer Mutation. 62
26184423 2015

Variations for Pancreatic Agenesis

Expression for Pancreatic Agenesis

Search GEO for disease gene expression data for Pancreatic Agenesis.

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
Show member pathways
13.49 FOXA2 GATA4 GCK HNF1B INS NEUROD1
2 12.38 PDX1 NKX6-1 NEUROD1 INS FOXA2
3
Show member pathways
11.94 PDX1 NEUROD1 INS HNF1B GCK FOXA2
4
Show member pathways
11.69 FOXA2 GCK HNF1B INS NEUROD1 NEUROG3
5 11.65 ONECUT1 HNF1B GATA6 GATA4 FOXA2
6 11.62 NKX2-2 NEUROD1 MNX1
7 11.49 FOXA2 GATA4 HNF1B INS NEUROD1 NEUROG3
8 11.44 INS GATA4 FOXA2
9 11.43 ONECUT1 NEUROD1 GATA6 GATA4
10 11.41 GATA4 GATA6 NEUROG3 PTF1A
11 11.37 GATA6 GATA4 FOXA2
12
Show member pathways
11.37 PDX1 KCNJ11 INS GCK FOXA2 ABCC8
13 11.21 NKX6-1 NKX2-2 NEUROD1 FOXA2
14 11.15 PDX1 NEUROD1 KCNJ11 INS HNF1B GCK
15 10.9 PDX1 KCNJ11

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 for Pancreatic Agenesis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....