AIP
MCID: ATM024
MIFTS: 48

Autoimmune Pancreatitis (AIP)

Categories: Bone diseases, Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases
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Aliases & Classifications for Autoimmune Pancreatitis

MalaCards integrated aliases for Autoimmune Pancreatitis:

Name: Autoimmune Pancreatitis 11 19 58 43 14 71 75 33
Lymphoplasmocytic Sclerosing Pancreatitis 19
Aip 58

Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare systemic and rhumatological diseases


External Ids:

Disease Ontology 11 DOID:0040091
MeSH 43 D000081012
SNOMED-CT 68 448542008
ICD10 via Orphanet 32 K86.1
UMLS via Orphanet 72 C2609129
Orphanet 58 ORPHA103919
ICD11 33 2057951941
UMLS 71 C2609129

Summaries for Autoimmune Pancreatitis

Orphanet: 58 A rare pancreatic disease characterized by chronic non-alcoholic pancreatitis that presents with abdominal pain, steatorrhea, obstructive jaundice and responds well to steroid therapy and is seen in two subforms: type which affects elderly males, involves other organs and has increased immunoglobin G4 (IgG4) levels and type 2 which affects both sexes equally but presents at a younger age and has no other organ involvement or increased IgG4 levels.

MalaCards based summary: Autoimmune Pancreatitis, also known as lymphoplasmocytic sclerosing pancreatitis, is related to igg4-related disease and pancreatitis, hereditary. An important gene associated with Autoimmune Pancreatitis is IL33 (Interleukin 33), and among its related pathways/superpathways are Extrafollicular B cell activation by SARS-CoV-2 and Innate Lymphoid Cells Differentiation. The drugs Rituximab and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include pancreas, bone and liver, and related phenotypes are homeostasis/metabolism and immune system

GARD: 19 Autoimmune pancreatitis affects the pancreas, a gland behind the stomach and in front of the spine, and can also affect the bile ducts, salivary glands, kidneys, and lymph nodes. It is thought to occur when the immune system mistakenly begins to attack these healthy body tissues, glands, and organs. Common signs and symptoms include painless jaundice, weight loss, and noncancerous masses in the pancreas and other organs.

Disease Ontology: 11 An autoimmune disease of endocrine system that is located in the pancreas.

Wikipedia: 75 Autoimmune Pancreatitis (AIP) is an increasingly recognized type of chronic pancreatitis that can be... more...

Related Diseases for Autoimmune Pancreatitis

Diseases in the Pancreatitis family:

Pancreatitis, Hereditary Autoimmune Pancreatitis
Acute Pancreatitis Prss1-Related Hereditary Pancreatitis
Autoimmune Pancreatitis Type 2 Autoimmune Pancreatitis Type 1

Diseases related to Autoimmune Pancreatitis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 814)
# Related Disease Score Top Affiliating Genes
1 igg4-related disease 31.6 IL10 ICOSLG CRP CD4 CCR6 CA2
2 pancreatitis, hereditary 31.6 SPINK1 SCT PRSS1 CFTR
3 sialadenitis 31.3 ICOSLG CD4 CCR6
4 mikulicz disease 31.3 SPINK1 IL10 ICOSLG CRP CD4 CCR6
5 sclerosing cholangitis 31.1 IL10 ICOSLG CRP CD4 CCR6
6 pancreatitis 31.0 SPINK1 SCT PRSS1 MIR21 IL10 CRP
7 sjogren syndrome 30.8 IL10 ICOSLG CCR6 CA2
8 cholangitis 30.7 IL10 ENPP2 CRP CFTR CEACAM5 CA2
9 autoimmune disease 30.6 IL10 IFNA1 ICOSLG FCRL3 CRP CCR6
10 autoimmune cholangitis 30.6 CD4 CCR6 CA2
11 bowel dysfunction 30.6 IL10 CRP CFTR
12 thrombocytopenic purpura, autoimmune 30.5 ICOSLG CD4 CCR6
13 optic papillitis 30.5 CRP CD4
14 thyroiditis 30.5 IL10 IFNA1 CRP
15 acute pancreatitis 30.5 SPINK1 SCT PRSS1 IL10 CRP CFTR
16 interstitial nephritis 30.4 ICOSLG CRP CD4 CCR6
17 thrombocytopenia due to platelet alloimmunization 30.4 IL10 ICOSLG CD4 CCR6
18 alcoholic pancreatitis 30.4 SPINK1 SCT PRSS58 PRSS1 CFTR
19 autoimmune polyendocrine syndrome 30.3 IFNA1 ICOSLG CD4 CCR6
20 dacryoadenitis 30.3 IL10 ICOSLG CD4 CCR6
21 cholangitis, primary sclerosing 30.2 SCT IL10 ICOSLG CRP CFTR CEACAM5
22 henoch-schoenlein purpura 30.2 ICOSLG CRP CD4 CCR6
23 keratoconjunctivitis sicca 30.1 ICOSLG CD4 CCR6
24 alcohol use disorder 30.0 CRP CD4 CCR6
25 colitis 30.0 MIR21 IL10 ICOSLG CRP CD4 CCR6
26 prss1-related hereditary pancreatitis 30.0 SPINK1 PRSS1 CFTR
27 castleman disease 30.0 IL10 CRP CD4 CCR6
28 lipid metabolism disorder 30.0 MIR21 IL10 CRP CCR6
29 gallbladder disease 30.0 CRP CFTR CEACAM5 CCR6
30 arteries, anomalies of 30.0 MIR21 ICOSLG CRP CCR6
31 interstitial lung disease 29.9 MIR21 IL10 ICOSLG CRP CCR6
32 herpes zoster 29.9 IL10 IFNA1 CD4 CCR6
33 anemia, autoimmune hemolytic 29.9 IL10 ICOSLG CRP CD4 CCR6
34 aortitis 29.9 CRP CD4 CCR6
35 lymphatic system disease 29.9 MIR21 ICOSLG CD4 CCR6
36 crohn's disease 29.9 MIR21 IL10 ICOSLG CRP CD4 CCR6
37 exocrine pancreatic insufficiency 29.9 SPINK1 SCT PRSS1 CFTR CELA3B CELA1
38 sarcoidosis 1 29.8 IL10 ICOSLG CRP CD4 CCR6
39 allergic disease 29.8 MIR21 IL33 IL10 ICOSLG CD4 CCR6
40 aortic aneurysm, familial abdominal, 1 29.8 MIR21 IL10 CRP CCR6
41 hypersensitivity vasculitis 29.8 ICOSLG CRP CD4 CCR6
42 ileitis 29.8 IL10 CD4 CCR6
43 bile duct adenocarcinoma 29.8 MIR21 ICOSLG CEACAM5 CCR6
44 pancreatic cancer 29.8 SPINK1 SCT PRSS1 MIR21 IL10 ICOSLG
45 nutritional deficiency disease 29.8 SCT CRP CCR6
46 adult respiratory distress syndrome 29.8 MIR21 IL10 CRP CCR6
47 lung disease 29.7 MIR21 IL10 CFTR CEACAM5 CCR6
48 leukemia, acute myeloid 29.7 MIR21 IL10 IFNA1 ICOSLG CD4 CCR6
49 t cell deficiency 29.7 IL10 ICOSLG CD4 CCR6
50 vogt-koyanagi-harada disease 29.7 IL10 ICOSLG CD4 CCR6

Graphical network of the top 20 diseases related to Autoimmune Pancreatitis:



Diseases related to Autoimmune Pancreatitis

Symptoms & Phenotypes for Autoimmune Pancreatitis

MGI Mouse Phenotypes related to Autoimmune Pancreatitis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.8 CA2 CCR6 CD4 CEACAM5 CFTR CRP
2 immune system MP:0005387 9.4 CA2 CCR6 CD4 CEACAM5 CFTR CRP

Drugs & Therapeutics for Autoimmune Pancreatitis

Drugs for Autoimmune Pancreatitis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rituximab Approved Phase 1, Phase 2 174722-31-7
2 Antirheumatic Agents Phase 1, Phase 2
3 Antineoplastic Agents, Immunological Phase 1, Phase 2
4 Immunologic Factors Phase 1, Phase 2
5
Lenalidomide Approved Phase 1 191732-72-6 216326
6 Angiogenesis Inhibitors Phase 1
7
Prednisone Approved, Vet_approved 53-03-2 5865
8
Ethanol Approved 64-17-5 702
9
Pancrelipase Approved, Investigational 53608-75-6 8519
10 Immunoglobulins, Intravenous
11 Immunoglobulins
12 Immunoglobulin G
13 Antibodies
14 Liver Extracts
15 Gastrointestinal Agents
16 Pancreatin

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 Rituximab (RTX) for IgG4-related Disease (IgG4-RD): a Prospective,Open-label Trial Completed NCT01584388 Phase 1, Phase 2 Rituximab
2 Evaluation of a New EUS Guided Biopsy Needle (SharkCore) Comparing to Standard EUS Needle (ProCore): A Prospective Randomized, Controlled Multicenter Study Withdrawn NCT02766842 Phase 2
3 Treatment of IgG4-Related Disease With Revlimid and Rituximab: The TIGR2 Trial Completed NCT02705638 Phase 1 Rituximab;Lenalidomide
4 Treatment of Obstructive Jaundice in Autoimmune Pancreatitis and/or Immunoglobulin G4-related Sclerosing Cholangitis by Corticosteroids Unknown status NCT02797665 corticosteroids
5 EUS-guided Procore-biopsy in Diagnosing Autoimmune Pancreatitis Unknown status NCT01774513
6 Clinical Analysis for Predicting of Relapse During Steroid Treatment for Autoimmune Pancreatitis (AIP) in Korean Population Based on the HLA Analysis by Using a High Resolution (Sequence Based) Techniques Completed NCT00444444
7 Evaluation of EUS-guided FNA for Diagnosing Autoimmune Pancreatitis: a Prospective, Single-center Study Completed NCT03241797
8 Pancreatic Duct Evaluation in Autoimmune Pancreatitis: Intraindividual Comparison of MR Pancreatography at 3.0 T and 1.5 T Completed NCT01773031
9 A Real-world Comparison of FNB and FNA in IHC-required Lesions: A Prospective, Multicenter Study. Completed NCT05565066
10 CT Perfusion of Pancreatic Cancer and Chronic Pancreatitis: Feasibility Study Completed NCT00588367
11 A Randomized Trial Comparing a 19-gauge EUS Fine-needle Aspiration Device With a 20-gauge Fine-needle Biopsy Device for the Diagnosis of Autoimmune Pancreatitis Recruiting NCT03753815
12 Role of Endoscopic Ultrasound-guided Fine-needle Biopsy in the Diagnosis of Autoimmune Pancreatitis Recruiting NCT04397731
13 Construction and Validation of a Diagnosis Model Based on Endoscopic Ultrasound Characteristics for Differentiating Between Focal Autoimmune Pancreatitis and Pancreatic Cancer Recruiting NCT04834505
14 Study on Microflora Characteristics of Pancreatic Solid Lesions Via Endoscopic Ultrasound-guided Fine Needle Aspiration/Biopsy Recruiting NCT05171517
15 Endoscopic Ultrasound Shear Wave for Neoplasia and Inflammation Assessment Among Solid Pancreas Lesions: a Case-control Observational Trial. Active, not recruiting NCT05095831
16 Utilization of Artificial Intelligence for the Development of an EUS-convolution Neural Network Model Trained to Differentiate Pancreatic Cancer From Other Pancreatic Solid Lesions Not yet recruiting NCT05476978
17 Efficacy of Secretin Assisted Dynamic MRCP in the Diagnosis and Follow up of Auto Immune Pancreatitis(AIP) Withdrawn NCT01845467

Search NIH Clinical Center for Autoimmune Pancreatitis

Cochrane evidence based reviews: autoimmune pancreatitis

Genetic Tests for Autoimmune Pancreatitis

Anatomical Context for Autoimmune Pancreatitis

Organs/tissues related to Autoimmune Pancreatitis:

FMA: Pancreas
MalaCards : Pancreas, Bone, Liver, T Cells, Salivary Gland, Lung, Kidney

Publications for Autoimmune Pancreatitis

Articles related to Autoimmune Pancreatitis:

(show top 50) (show all 2404)
# Title Authors PMID Year
1
Radiomics based on diffusion-weighted imaging for differentiation between focal-type autoimmune pancreatitis and pancreatic carcinoma. 62
35946923 2022
2
High-fat diet aggravates experimental autoimmune pancreatitis through the activation of type I interferon signaling pathways. 62
36403482 2022
3
The role of serological biomarkers in the diagnosis and management of autoimmune pancreatitis. 62
36125384 2022
4
Correction to: The effect of CT texture‑based analysis using machine learning approaches on radiologists' performance in differentiating focal‑type autoimmune pancreatitis and pancreatic duct carcinoma. 62
35809211 2022
5
Gastric linitis plastica with autoimmune pancreatitis diagnosed by an endoscopic ultrasonography-guided fine-needle biopsy: A case report. 62
36387831 2022
6
Eosinophilic pancreatitis with serum IgG4-positivity, potentially associated with autoimmune pancreatitis. 62
36385250 2022
7
The application of high-throughput proteomics in cytopathology. 62
36345621 2022
8
The effect of CT texture-based analysis using machine learning approaches on radiologists' performance in differentiating focal-type autoimmune pancreatitis and pancreatic duct carcinoma. 62
35727458 2022
9
Steroid treatment response combined with serological mark in differentiating type-1 autoimmune pancreatitis from pancreatic cancer. 62
36397434 2022
10
A multidomain fusion model of radiomics and deep learning to discriminate between PDAC and AIP based on 18F-FDG PET/CT images. 62
36409398 2022
11
An adult female case of autoimmune pancreatitis with gastric outlet obstruction complicated by annular pancreas. 62
36333486 2022
12
Autoimmune Pancreatitis with Massive Ascites and Multiple Pancreatic Cysts Successfully Treated with Prednisolone: A Case Report. 62
36198587 2022
13
Systematic review and meta-analysis of MRI features for differentiating autoimmune pancreatitis from pancreatic adenocarcinoma. 62
35486167 2022
14
Fighting Fire with Fire: Exosomes and Acute Pancreatitis-Associated Acute Lung Injury. 62
36354526 2022
15
Evaluating the role of endoscopic ultrasound in pancreatitis. 62
36263489 2022
16
Diagnostic Utility of Serum IgG4 in Autoimmune Pancreatitis: An Updated Comprehensive Systematic Review and Meta-analysis. 62
34516462 2022
17
Utility of Endoscopic Ultrasound-Guided Fine-Needle Aspiration and Biopsy for Histological Diagnosis of Type 2 Autoimmune Pancreatitis. 62
36292153 2022
18
Role of apoptosis inhibitor of macrophages in patients with IgG4‑related disease/autoimmune pancreatitis and the clinical characteristics associated with this condition. 62
36158321 2022
19
Hypertrophic Perianal Herpes Mimicking Squamous Cell Cancer: A Case Report and a Review of the Literature. 62
36439566 2022
20
Autoimmune Pancreatitis Secondary to Immune Checkpoint Inhibitor Therapy (Type 3 AIP): Insights Into a New Disease From Serial Pancreatic Imaging. 62
36220459 2022
21
Current status of type 1 (IgG4-related) autoimmune pancreatitis. 62
35916965 2022
22
Diffuse Involvement of Pancreas is not Always Autoimmune Pancreatitis. 62
35279380 2022
23
Autoimmune Pancreatitis: From Pathogenesis to Treatment. 62
36293522 2022
24
Correlation of Autoimmune Pancreatitis and Risk of Gastric Cancer in East Asian Population. 62
35435857 2022
25
Acute liver injury and IgG4-related autoimmune pancreatitis following mRNA-based COVID-19 vaccination. 62
36177105 2022
26
Type 3 autoimmune pancreatitis (immune checkpoint inhibitor-induced pancreatitis). 62
35881977 2022
27
Disruption of the intestinal barrier exacerbates experimental autoimmune pancreatitis by promoting the translocation of Staphylococcus sciuri into the pancreas. 62
36044992 2022
28
Report of Two Cases of Pediatric IgG4-Related Lymphadenopathy (IgG4-LAD): IgG4-Related Disease (IgG4-RD) or a Distinct Clinical Pathological Entity? 62
36291407 2022
29
Application of Lip Biopsy for the Histological Diagnosis of Immunoglobulin G4-Related Disease. 62
33147065 2022
30
Black pleural effusion caused by a pancreaticopleural fistula associated with autoimmune pancreatitis: A case report. 62
36086788 2022
31
Autoimmune Pancreatitis and Immunoglobulin G4-related Sclerosing Cholangitis: Past, Present, and Future. 62
36156034 2022
32
Navigating the Challenges Associated With a Diagnosis of Autoimmune Pancreatitis and IgG4-Related Sclerosing Cholangitis. 62
36136300 2022
33
Artificial intelligence using deep learning analysis of endoscopic ultrasonography images for the differential diagnosis of pancreatic masses. 62
35688454 2022
34
Spontaneous remission of autoimmune pancreatitis: Four case reports. 62
36159515 2022
35
Factors affecting glycemic control in diabetes mellitus complicated by autoimmune pancreatitis. 62
35290718 2022
36
Type 2 autoimmune pancreatitis associated with severe ulcerative colitis: Three case reports. 62
36157795 2022
37
Steroid therapy has an acceptable role as the initial treatment in autoimmune pancreatitis patients with pancreatic cyst formation: Based on a Japanese nationwide study. 62
35950952 2022
38
Autoimmune pancreatitis: can we truly recognize it? Usefulness of contrast-enhanced ultrasonography in two different cases. 62
35802532 2022
39
Prevalence and clinical features of patients with autoimmune pancreatitis and inflammatory bowel disease: A systematic review and meta-analysis. 62
35596263 2022
40
A systematic review of radiomics in pancreatitis: applying the evidence level rating tool for promoting clinical transferability. 62
35986798 2022
41
Autoimmune pancreatitis in pediatrics, a rare disease. 62
35810097 2022
42
Increased IgG-4 levels in a patient with autism spectrum disorder complicated by autoimmune pancreatitis. 62
35468478 2022
43
Author's reply: "ADC values from diffusion-weighted imaging may be lower for autoimmune pancreatitis than for pancreatic ductal adenocarcinoma". 62
35614006 2022
44
ADC values from diffusion-weighted imaging may be lower for autoimmune pancreatitis than for pancreatic ductal adenocarcinoma. 62
35487851 2022
45
Hypercalcemia in IgG4-related disease: coincidental or associated? Case based review. 62
34994813 2022
46
Correlation of Autoimmune Pancreatitis and Malignancy: Systematic Review and Meta-Analysis. 62
34297267 2022
47
Complemental Diagnosis of IgG4-Related Pancreaticobiliary Diseases by Multiple Hypoechoic Lesions in the Submandibular Glands. 62
35887953 2022
48
Comparison of the diagnostic efficacy of 68 Ga-FAPI-04 PET/MR and 18F-FDG PET/CT in patients with pancreatic cancer. 62
35243518 2022
49
Case Series of Autoimmune Pancreatitis and IgG4-Related Sclerosing Cholangitis. 62
35949783 2022
50
MRI features for differentiation of autoimmune pancreatitis from pancreatic ductal adenocarcinoma: A systematic review and meta-analysis. 62
34903501 2022

Variations for Autoimmune Pancreatitis

Cosmic variations for Autoimmune Pancreatitis:

8 (show all 23)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM114951681 NFE2L2 kidney,NS,carcinoma,Type 2 c.197A>G p.E66G 2:177234072-177234072 3
2 COSM100298136 NFE2L2 kidney,NS,carcinoma,Type 2 c.197A>G p.E66G 2:177234072-177234072 3
3 COSM106501511 NFE2L2 kidney,NS,carcinoma,Type 2 c.197A>G p.E66G 2:177234072-177234072 3
4 COSM112705743 NFE2L2 kidney,NS,carcinoma,Type 2 c.197A>G p.E66G 2:177234072-177234072 3
5 COSM100290763 NFE2L2 kidney,NS,carcinoma,Type 2 c.245A>G p.E82G 2:177234072-177234072 3
6 COSM102553435 MET kidney,NS,carcinoma,Type 1 c.3749T>C p.M1250T 7:116783420-116783420 2
7 COSM102557035 MET kidney,NS,carcinoma,Type 1 c.3422C>G p.S1141W 7:116778857-116778857 2
8 COSM88843775 MET kidney,NS,carcinoma,Type 1 c.3803T>C p.M1268T 7:116783420-116783420 2
9 COSM88850571 MET kidney,NS,carcinoma,Type 1 c.3637C>T p.L1213F 7:116782048-116782048 2
10 COSM102558765 MET kidney,NS,carcinoma,Type 1 c.3562G>T p.V1188L 7:116782027-116782027 2
11 COSM88845447 MET kidney,NS,carcinoma,Type 1 c.3742T>C p.Y1248H 7:116783359-116783359 2
12 COSM88854098 MET kidney,NS,carcinoma,Type 1 c.3538C>T p.H1180Y 7:116778919-116778919 2
13 COSM88844618 MET kidney,NS,carcinoma,Type 1 c.3328G>A p.V1110I 7:116777403-116777403 2
14 COSM88846612 MET kidney,NS,carcinoma,Type 1 c.3476C>G p.S1159W 7:116778857-116778857 2
15 COSM102555469 MET kidney,NS,carcinoma,Type 1 c.3688T>C p.Y1230H 7:116783359-116783359 2
16 COSM102561867 MET kidney,NS,carcinoma,Type 1 c.3583C>T p.L1195F 7:116782048-116782048 2
17 COSM102554703 MET kidney,NS,carcinoma,Type 1 c.3274G>A p.V1092I 7:116777403-116777403 2
18 COSM88857375 MET kidney,NS,carcinoma,Type 1 c.3446T>C p.M1149T 7:116778827-116778827 2
19 COSM102566238 MET kidney,NS,carcinoma,Type 1 c.3484C>T p.H1162Y 7:116778919-116778919 2
20 COSM88849805 MET kidney,NS,carcinoma,Type 1 c.3637C>A p.L1213I 7:116782048-116782048 2
21 COSM102569465 MET kidney,NS,carcinoma,Type 1 c.3392T>C p.M1131T 7:116778827-116778827 2
22 COSM102560896 MET kidney,NS,carcinoma,Type 1 c.3583C>A p.L1195I 7:116782048-116782048 2
23 COSM88848019 MET kidney,NS,carcinoma,Type 1 c.3616G>T p.V1206L 7:116782027-116782027 2

Expression for Autoimmune Pancreatitis

Search GEO for disease gene expression data for Autoimmune Pancreatitis.

Pathways for Autoimmune Pancreatitis

Pathways related to Autoimmune Pancreatitis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.18 IL10 ICOSLG CRP
2 10.83 IL33 IL10 CD4 CCR6
3 10.79 IL33 IL10 CD4

GO Terms for Autoimmune Pancreatitis

Cellular components related to Autoimmune Pancreatitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.93 SPINK1 SCT PRSS58 PRSS1 IL33 IL10
2 extracellular space GO:0005615 9.62 SPINK1 SCT PRSS1 MIR21 IL33 IL10

Biological processes related to Autoimmune Pancreatitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 type 2 immune response GO:0042092 9.26 IL33 IL10
2 positive regulation of pancreatic juice secretion GO:0090187 8.92 SPINK1 SCT

Molecular functions related to Autoimmune Pancreatitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 serine-type peptidase activity GO:0008236 8.92 PRSS58 PRSS1 CELA3B CELA1

Sources for Autoimmune Pancreatitis

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 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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