Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 Biomarker disease GENOMICS_ENGLAND Analysis of protein-coding genetic variation in 60,706 humans. 27535533 2016
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease UNIPROT SPINK1 N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event. 19888199 2010
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease UNIPROT The SPINK1 N34S variant is associated with acute pancreatitis. 18617776 2008
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GermlineCausalMutation disease ORPHANET The results provide the first clear experimental demonstration that alterations that markedly reduce SPINK1 expression are associated with classic hereditary pancreatitis. 17274009 2007
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease UNIPROT Gene symbol: Spink1-Omim 167790. Disease: Hereditary pancreatitis. 12974284 2003
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		0.800 SusceptibilityMutation disease ORPHANET In the present study we report on mutations in the serine protease inhibitor, Kazal type 1 (SPINK1) gene in north Indian patients with TCP. 12360463 2002
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		0.800 GeneticVariation disease UNIPROT Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis. 12011155 2002
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		0.800 GeneticVariation disease UNIPROT SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent. 12187509 2002
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		0.800 SusceptibilityMutation disease ORPHANET Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis. 12011155 2002
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease UNIPROT Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis. 10691414 2000
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 GeneticVariation disease UNIPROT Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. 10835640 2000
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 Biomarker disease CTD_human
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		0.800 Biomarker disease CTD_human
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.500 Biomarker disease CTD_human Alcohol was long thought to be the primary causative agent, but genetic contributions have been of interest since the discovery that rare PRSS1, CFTR and SPINK1 variants were associated with pancreatitis risk. 23143602 2012
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.500 Biomarker disease CTD_human Hereditary chronic pancreatitis. 18206817 2008
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.410 Biomarker disease CTD_human Chronic pancreatitis and pancreatic cancer: prediction and mechanism. 19896093 2009
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis 		0.400 GermlineModifyingMutation disease ORPHANET Genetic and electrophysiological characteristics of recurrent acute pancreatitis. 25383785 2015
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.400 Biomarker disease CTD_human Integrative molecular profiling of routine clinical prostate cancer specimens. 25735316 2015
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis 		0.400 GermlineModifyingMutation disease ORPHANET CFTR, SPINK1, PRSS1, and CTRC mutations are not associated with pancreatic cancer in German patients. 25003218 2014
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.400 Biomarker disease CTD_human The combined frequency of 2.5% was significantly higher than that of healthy subjects (0.38%), suggesting that the SPINK 1 mutation is an important risk factor for the development of pancreatic cancer. 19896093 2009
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.320 Biomarker group CTD_human Integrative molecular profiling of routine clinical prostate cancer specimens. 25735316 2015
CUI: C4080064
Disease: Autosomal Dominant Hereditary Pancreatitis
Autosomal Dominant Hereditary Pancreatitis 		0.320 Biomarker disease CTD_human