Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		0.750 GeneticVariation disease BEFREE Mutations in the serine protease inhibitor, Kunitz-Type 2 (SPINT2) gene have been associated with congenital sodium diarrhea and additional syndromic features. 29575628 2018
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		0.750 Biomarker disease BEFREE Similar to other patients with CSD associated with SPINT2, this child remains dependent on parenteral nutrition for fluids and nutritional support resulting in failure to thrive. 28716867 2017
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		0.750 GeneticVariation disease BEFREE A Y163C mutation in the SPINT2 gene encoding the serine protease inhibitor Hepatocyte Growth Factor Inhibitor HAI-2 is associated with a congenital sodium diarrhea. 24722141 2014
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		0.750 Biomarker disease GENOMICS_ENGLAND Here we establish SPINT2, previously ascribed to congenital sodium diarrhea, as a second gene associated with CTE and report molecular and immunohistochemistry data in 57 CTE patients. 24142340 2014
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		0.750 Biomarker disease GENOMICS_ENGLAND Here we establish SPINT2, previously ascribed to congenital sodium diarrhea, as a second gene associated with CTE and report molecular and immunohistochemistry data in 57 CTE patients. 24142340 2014
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		0.750 Biomarker disease BEFREE Here we establish SPINT2, previously ascribed to congenital sodium diarrhea, as a second gene associated with CTE and report molecular and immunohistochemistry data in 57 CTE patients. 24142340 2014
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		0.750 GeneticVariation disease UNIPROT We delineate syndromic CSD as a distinct disease entity caused by SPINT2 loss-of-function mutations. 19185281 2009
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		0.750 GeneticVariation disease BEFREE We delineate syndromic CSD as a distinct disease entity caused by SPINT2 loss-of-function mutations. 19185281 2009
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		0.750 GermlineCausalMutation disease ORPHANET We delineate syndromic CSD as a distinct disease entity caused by SPINT2 loss-of-function mutations. 19185281 2009
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		0.750 Biomarker disease GENOMICS_ENGLAND A new syndrome of tufting enteropathy and choanal atresia, with ophthalmologic, hematologic and hair abnormalities. 17786112 2007
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		0.750 CausalMutation disease CLINVAR
CUI: C0267663
Disease: Congenital secretory diarrhea, sodium type (disorder)
Congenital secretory diarrhea, sodium type (disorder) 		0.750 Biomarker disease CTD_human
CUI: C4275062
Disease: Intestinal epithelial dysplasia
Intestinal epithelial dysplasia 		0.350 Biomarker disease BEFREE SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase. 30445423 2019
CUI: C4275062
Disease: Intestinal epithelial dysplasia
Intestinal epithelial dysplasia 		0.350 GeneticVariation disease BEFREE We found only one other report of an optic nerve coloboma associated with SPINT2 mutations and this occurred in a patient with congenital tufting enteropathy. 29575628 2018
CUI: C4275062
Disease: Intestinal epithelial dysplasia
Intestinal epithelial dysplasia 		0.350 GeneticVariation disease BEFREE Our data indicate that the loss of HAI-2 in Prss8R44Q/R44Q mice leads to development of progressive intestinal failure that at both histological and molecular level bears a striking resemblance to human congenital tufting enteropathy, and may provide important clues for understanding and treating this debilitating human disease. 29617460 2018
CUI: C4275062
Disease: Intestinal epithelial dysplasia
Intestinal epithelial dysplasia 		0.350 GeneticVariation disease BEFREE Recent cases of syndromic tufting enteropathy harboring the SPINT2 (19q13.2) mutation were described. 26684320 2016
CUI: C4275062
Disease: Intestinal epithelial dysplasia
Intestinal epithelial dysplasia 		0.350 Biomarker disease GENOMICS_ENGLAND Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. 24142340 2014
CUI: C4275062
Disease: Intestinal epithelial dysplasia
Intestinal epithelial dysplasia 		0.350 Biomarker disease BEFREE Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. 24142340 2014
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.310 GeneticVariation disease BEFREE We found only one other report of an optic nerve coloboma associated with SPINT2 mutations and this occurred in a patient with congenital tufting enteropathy. 29575628 2018
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.310 AlteredExpression group BEFREE We found that the myristoylated alanine-rich C-kinase substrate, Kunitz-type protease inhibitor 2, and apolipoprotein B-100 protein levels were decreased in both embryos and the sera of pregnant Sprague-Dawley rats carrying embryos with NTDs. 28695418 2017
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects 		0.310 Biomarker group CTD_human Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. 24722141 2014
CUI: C0155299
Disease: Coloboma of optic disc
Coloboma of optic disc 		0.310 Biomarker disease GENOMICS_ENGLAND Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form. 24142340 2014
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.310 Biomarker group CTD_human Global gene expression profiling of chemically induced rat mammary gland carcinomas and adenomas. 16316942 2005
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.310 AlteredExpression group BEFREE The expression of HAI-2/PB was analyzed in human normal colon mucosa, adenomas, and carcinomas. 10695988 2000
CUI: C0011999
Disease: Diastematomyelia
Diastematomyelia 		0.300 Biomarker disease CTD_human Functional analysis of a missense mutation in the serine protease inhibitor SPINT2 associated with congenital sodium diarrhea. 24722141 2014