rs111966833, SPINK1

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.020 GeneticVariation BEFREE The SPINK1 mutations N34S and P55S occurred in five PC patients with a prevalence (4.1%) not significantly different from that observed (2.0%) in HC. 17072959 2006
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
0.020 GeneticVariation BEFREE The SPINK1 mutations N34S and P55S occurred in five PC patients with a prevalence (4.1%) not significantly different from that observed (2.0%) in HC. 17072959 2006
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
0.020 GeneticVariation BEFREE The N34S and P55S mutations were determined by PCR amplification followed by solid-phase minisequencing in 116 patients with CP and in 188 with pancreatic cancer. 15764155 2005
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.020 GeneticVariation BEFREE The N34S and P55S mutations were determined by PCR amplification followed by solid-phase minisequencing in 116 patients with CP and in 188 with pancreatic cancer. 15764155 2005
Idiopathic bronchiectasis
CUI: C0339985
Disease: Idiopathic bronchiectasis
0.010 GeneticVariation BEFREE Two SPINK1 pancreatitis-associated variants, p.Asn34Ser and p.Pro55Ser, were found in 6 patients: 4 of 29 (13.8%) patients with ICP (3 p.Asn34Ser and 1 p.Pro55Ser), 1 of 7 (14.3%) healthy controls (p.Asn34Ser) and 1 of 9 (11.1%) patients with IB (p.Pro55Ser). 24451227 2014
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
0.010 GeneticVariation BEFREE The N34S and P55S mutations were determined by PCR amplification followed by solid-phase minisequencing in 116 patients with CP and in 188 with pancreatic cancer. 15764155 2005
Ataxic cerebral palsy
CUI: C0394005
Disease: Ataxic cerebral palsy
0.010 GeneticVariation BEFREE The P55S mutation was observed in one ICP and one ACP patient, and in three normal individuals. 15082592 2004
Adamantinous Craniopharyngioma
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
0.010 GeneticVariation BEFREE The P55S mutation was observed in one ICP and one ACP patient, and in three normal individuals. 15082592 2004
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
0.010 GeneticVariation BEFREE In five other patients (two with ACP and three with ALD) other rare variants, including P55S, were found. 12939655 2003
Fibrocalculous pancreatic diabetes
CUI: C0271642
Disease: Fibrocalculous pancreatic diabetes
0.010 GeneticVariation BEFREE P55S was present in 2 of 76 controls (3%) and in 1 of 22 patients with fibrocalculous pancreatic diabetes (5%; P = not significant). 12360464 2002