Disease table of PANCREATITIS, HEREDITARY OMIM ID: 167800

Gene-disease associations table

Gene	Associated with PANCREATITIS, HEREDITARY in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
CTRC	ClinVar, OMIM, HUMSAVAR	HGNC link	1p36.21	1	167800
PRSS1	ClinVar, OMIM, HUMSAVAR	HGNC link	7q34	2	614044, 167800
PRSS2	OMIM	HGNC link	7q34	1	167800
CFTR	ClinVar, OMIM	HGNC link	7q31.2	4	277180, PS211400, 219700, 167800
SPINK1	ClinVar, OMIM, HUMSAVAR	HGNC link	5q32	2	167800, 608189

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By sub-band

Shared sub_band	Number of genes associated with the disease	Genes associated with the disease
7q34	2	PRSS2, PRSS1

By band

Shared band	Number of genes associated with the disease	Genes associated with the disease
7q34	2	PRSS2, PRSS1

By region

Shared region	Number of genes associated with the disease	Genes associated with the disease
7q3	3	CFTR, PRSS2, PRSS1

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
7q	3	CFTR, PRSS2, PRSS1

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
7	3	CFTR, PRSS2, PRSS1

Transcription Factors (TF) annotation from TRRUST

regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
CFTR	YES	12	SRF, RELA, YY1, ATF1, CUX1, CREB1, NFE2L2, TFAP2A, CDX2, NFKB1, STAT1, USF2	0

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
CFTR	SPINK1	No	1	UBE3A

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from BIOGRID - genetic

Interactions from STRING

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment

Shared terms

KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Pancreatic secretion	hsa04972	6.07	3	CFTR, PRSS2, PRSS1
Influenza A	hsa05164	5.21	2	PRSS2, PRSS1
Neuroactive ligand-receptor interaction	hsa04080	4.58	2	PRSS2, PRSS1
Protein digestion and absorption	hsa04974	6.2	2	PRSS2, PRSS1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Influenza A (hsa05164)	-	5.21	0.043	PRSS2, PRSS1
Neuroactive ligand-receptor interaction (hsa04080)	-	4.58	0.014	CFTR, PRSS2, PRSS1
Pancreatic secretion (hsa04972)	-	6.07	0.0	CFTR, PRSS2, PRSS1
Digestive system	NEW	4.12	0.004	CFTR, PRSS2, PRSS1
Protein digestion and absorption (hsa04974)	-	6.2	0.011	PRSS2, PRSS1

REACTOME pathways annotation: shared terms / NET-GE enrichment

Shared terms

REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Activation of Matrix Metalloproteinases	R-HSA-1592389	8.03	2	PRSS2, PRSS1
Extracellular matrix organization	R-HSA-1474244	4.91	2	PRSS2, PRSS1
Degradation of the extracellular matrix	R-HSA-1474228	6.11	2	PRSS2, PRSS1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Degradation of the extracellular matrix (R-HSA-1474228)	-	6.11	0.014	PRSS2, PRSS1
Activation of Matrix Metalloproteinases (R-HSA-1592389)	-	8.03	0.016	PRSS2, PRSS1

GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
binding (GO:0005488)	0.18	5	SPINK1, CFTR, PRSS2, PRSS1, CTRC
hydrolase activity (GO:0016787)	1.9	4	CFTR, PRSS2, PRSS1, CTRC
protein binding (GO:0005515)	0.46	4	CFTR, PRSS2, SPINK1, CTRC
catalytic activity (GO:0003824)	1.05	4	CFTR, PRSS2, PRSS1, CTRC
serine-type endopeptidase activity (GO:0004252)	4.4	3	PRSS2, CTRC, PRSS1
endopeptidase activity (GO:0004175)	3.63	3	PRSS2, PRSS1, CTRC
serine hydrolase activity (GO:0017171)	4.26	3	PRSS2, CTRC, PRSS1
peptidase activity, acting on L-amino acid peptides (GO:0070011)	3.26	3	PRSS2, PRSS1, CTRC
peptidase activity (GO:0008233)	3.23	3	PRSS2, CTRC, PRSS1
serine-type peptidase activity (GO:0008236)	4.27	3	PRSS2, PRSS1, CTRC
metal ion binding (GO:0046872)	1.41	2	PRSS2, PRSS1
ion binding (GO:0043167)	1.36	2	PRSS2, PRSS1
molecular function regulator (GO:0098772)	2.51	2	CFTR, SPINK1
cation binding (GO:0043169)	1.4	2	PRSS2, PRSS1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
serine-type endopeptidase activity (GO:0004252)	-	4.4	0.001	PRSS2, PRSS1, CTRC
endopeptidase activity (GO:0004175)	-	3.63	0.012	PRSS2, CTRC, PRSS1
serine hydrolase activity (GO:0017171)	-	4.26	0.038	PRSS2, CTRC, PRSS1
peptidase activity, acting on L-amino acid peptides (GO:0070011)	-	3.26	0.043	PRSS2, PRSS1, CTRC
peptidase activity (GO:0008233)	-	3.23	0.047	PRSS2, CTRC, PRSS1
serine-type peptidase activity (GO:0008236)	-	4.27	0.001	PRSS2, CTRC, PRSS1

GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
primary metabolic process (GO:0044238)	0.69	4	CFTR, PRSS2, CTRC, PRSS1
single-organism metabolic process (GO:0044710)	1.63	4	CFTR, PRSS2, CTRC, PRSS1
cellular process (GO:0009987)	0.26	4	CFTR, PRSS2, PRSS1, CTRC
organic substance metabolic process (GO:0071704)	0.63	4	CFTR, PRSS2, PRSS1, CTRC
single-organism cellular process (GO:0044763)	0.65	4	CFTR, PRSS2, CTRC, PRSS1
metabolic process (GO:0008152)	0.58	4	CFTR, PRSS2, CTRC, PRSS1
single-organism process (GO:0044699)	0.48	4	CFTR, PRSS2, CTRC, PRSS1
multicellular organismal process (GO:0032501)	1.45	3	CFTR, PRSS2, PRSS1
single-multicellular organism process (GO:0044707)	1.78	3	CFTR, PRSS2, PRSS1
protein metabolic process (GO:0019538)	1.45	3	PRSS2, PRSS1, CTRC
regulation of cellular process (GO:0050794)	0.5	3	CFTR, PRSS2, SPINK1
biological regulation (GO:0065007)	0.39	3	CFTR, PRSS2, SPINK1
small molecule metabolic process (GO:0044281)	2.38	3	CFTR, CTRC, PRSS1
proteolysis (GO:0006508)	2.73	3	PRSS2, PRSS1, CTRC
macromolecule metabolic process (GO:0043170)	0.83	3	PRSS2, PRSS1, CTRC
regulation of biological process (GO:0050789)	0.45	3	CFTR, PRSS2, SPINK1
organic cyclic compound metabolic process (GO:1901360)	1.26	3	CFTR, CTRC, PRSS1
regulation of transport (GO:0051049)	2.24	2	CFTR, SPINK1
cobalamin metabolic process (GO:0009235)	6.68	2	PRSS1, CTRC
regulation of response to stimulus (GO:0048583)	1.54	2	CFTR, SPINK1
nitrogen compound metabolic process (GO:0006807)	1.13	2	PRSS1, CTRC
regulation of signaling (GO:0023051)	1.72	2	CFTR, SPINK1
regulation of cell communication (GO:0010646)	1.73	2	CFTR, SPINK1
regulation of ion transport (GO:0043269)	3.4	2	CFTR, SPINK1
regulation of signal transduction (GO:0009966)	1.84	2	CFTR, SPINK1
cellular component organization (GO:0016043)	1.24	2	PRSS2, PRSS1
tetrapyrrole metabolic process (GO:0033013)	5.65	2	PRSS1, CTRC
cellular component organization or biogenesis (GO:0071840)	1.22	2	PRSS2, PRSS1
extracellular structure organization (GO:0043062)	4.0	2	PRSS2, PRSS1
positive regulation of biological process (GO:0048518)	1.2	2	CFTR, PRSS2
regulation of molecular function (GO:0065009)	1.78	2	CFTR, SPINK1
extracellular matrix disassembly (GO:0022617)	5.38	2	PRSS2, PRSS1
water-soluble vitamin metabolic process (GO:0006767)	5.29	2	CTRC, PRSS1
vitamin metabolic process (GO:0006766)	4.97	2	CTRC, PRSS1
digestion (GO:0007586)	5.41	2	PRSS2, PRSS1
cellular aromatic compound metabolic process (GO:0006725)	1.3	2	CTRC, PRSS1
cellular component disassembly (GO:0022411)	3.52	2	PRSS2, PRSS1
regulation of localization (GO:0032879)	1.94	2	CFTR, SPINK1
heterocycle metabolic process (GO:0046483)	1.31	2	PRSS1, CTRC
organonitrogen compound metabolic process (GO:1901564)	2.32	2	CTRC, PRSS1
cellular metabolic process (GO:0044237)	0.69	2	CTRC, PRSS1
extracellular matrix organization (GO:0030198)	4.01	2	PRSS2, PRSS1
positive regulation of cellular process (GO:0048522)	1.3	2	CFTR, PRSS2

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
digestion (GO:0007586)	-	5.41	0.039	PRSS2, PRSS1

GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GO	IC	Number of genes with the same GO	Genes
extracellular region (GO:0005576)	2.18	4	SPINK1, PRSS2, CTRC, PRSS1
extracellular region part (GO:0044421)	1.57	4	CFTR, PRSS2, SPINK1, PRSS1
extracellular organelle (GO:0043230)	1.89	3	CFTR, SPINK1, PRSS1
extracellular space (GO:0005615)	2.63	3	SPINK1, PRSS2, PRSS1
vesicle (GO:0031982)	1.64	3	CFTR, SPINK1, PRSS1
membrane-bounded vesicle (GO:0031988)	1.71	3	CFTR, SPINK1, PRSS1
extracellular vesicle (GO:1903561)	1.89	3	CFTR, SPINK1, PRSS1
membrane-bounded organelle (GO:0043227)	0.47	3	CFTR, SPINK1, PRSS1
organelle (GO:0043226)	0.4	3	CFTR, SPINK1, PRSS1
extracellular exosome (GO:0070062)	1.89	3	CFTR, SPINK1, PRSS1
intracellular part (GO:0044424)	0.28	2	CFTR, SPINK1
cytoplasmic part (GO:0044444)	0.82	2	CFTR, SPINK1
cell part (GO:0044464)	0.11	2	CFTR, SPINK1
intracellular organelle (GO:0043229)	0.51	2	CFTR, SPINK1
intracellular membrane-bounded organelle (GO:0043231)	0.6	2	CFTR, SPINK1