Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.320 GeneticVariation disease BEFREE Sodium channel and clathrin linker 1 (SCLT1) mutations were associated with the oral-facial-digital syndrome (OFD), an autosomal recessive ciliopathy. 28486600 2017
CUI: C0029294
Disease: Orofaciodigital Syndromes
Orofaciodigital Syndromes 		0.320 GeneticVariation disease BEFREE The molecular composition of DAPs was recently elucidated and mutations in two genes encoding DAPs components (CEP164/NPHP15, SCLT1) have been associated with human ciliopathies, namely nephronophthisis and orofaciodigital syndrome. 24882706 2014
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.310 GeneticVariation disease BEFREE Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome. 30425282 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.240 Biomarker disease BEFREE Our findings suggest a previously unrecognized role of SCLT1 and TBC1D32 in the pathogenesis of ciliopathy in humans. 24285566 2014
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.240 Biomarker disease BEFREE The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly. 28486600 2017
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.240 GeneticVariation disease BEFREE In conclusion, we identified compound heterozygous splice site variants of SCLT1 in a patient with a new form of ciliopathies that exhibits clinical features of SLS. 30425282 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies 		0.240 Biomarker disease BEFREE The molecular composition of DAPs was recently elucidated and mutations in two genes encoding DAPs components (CEP164/NPHP15, SCLT1) have been associated with human ciliopathies, namely nephronophthisis and orofaciodigital syndrome. 24882706 2014
CUI: C0006849
Disease: Oral candidiasis
Oral candidiasis 		0.020 Biomarker disease BEFREE SAP1 and SAP3 transcripts were observed only in patients with oral candidiasis. 10225911 1999
CUI: C0006849
Disease: Oral candidiasis
Oral candidiasis 		0.020 AlteredExpression disease BEFREE Expression of SAP1-3 and 6 was also detected by RT-PCR in samples from patients suffering from oral candidosis. 9720876 1998
CUI: C0002312
Disease: alpha-Thalassemia
alpha-Thalassemia 		0.010 GeneticVariation disease BEFREE The clinical phenotypes associated with compound heterozygosity for the CAP+1 (A-->C) mutation with other beta-thalassemia mutations, together with the potential effect of the genetic modifiers alpha-thalassemia and the Xmn-1(G)gamma C-->T polymorphism were studied in 30 patients. 17900295 2007
CUI: C0005283
Disease: beta Thalassemia
beta Thalassemia 		0.010 GeneticVariation disease BEFREE The clinical phenotypes associated with compound heterozygosity for the CAP+1 (A-->C) mutation with other beta-thalassemia mutations, together with the potential effect of the genetic modifiers alpha-thalassemia and the Xmn-1(G)gamma C-->T polymorphism were studied in 30 patients. 17900295 2007
CUI: C0006840
Disease: Candidiasis
Candidiasis 		0.010 AlteredExpression disease BEFREE C. albicans SC5314 SAP1-10 gene expression was monitored in organotypic reconstituted human epithelium (RHE) models, monolayers of oral epithelial cells, and patients with oral (n=17) or vaginal (n=17) candidiasis. 18957581 2008
CUI: C0009319
Disease: Colitis
Colitis 		0.010 Biomarker disease BEFREE Here we show that SAP-1 ablation in interleukin (IL)-10-deficient mice, a model of inflammatory bowel disease, resulted in a marked increase in the severity of colitis in association with up-regulation of mRNAs for various cytokines and chemokines in the colon. 26195794 2015
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.010 Biomarker disease BEFREE The amplified HBV DNA fragments were inserted into pHY106 vectors by Sap I digestion. 18567076 2008
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.010 Biomarker group BEFREE Isolates of Candida albicans from the oral cavities of subjects at different stages of human immunodeficiency virus (HIV) infection or uninfected controls were examined for (i) production of aspartic proteinase(s), a putative virulence-associated factor(s); (ii) the presence in the fungal genome of two major genes (SAP1 and SAP2) of the aspartic proteinase family; and (iii) experimental pathogenicity in a murine model of systemic infection. 8550193 1996
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 Biomarker group BEFREE Here we show that SAP-1 ablation in interleukin (IL)-10-deficient mice, a model of inflammatory bowel disease, resulted in a marked increase in the severity of colitis in association with up-regulation of mRNAs for various cytokines and chemokines in the colon. 26195794 2015
CUI: C0022679
Disease: Cystic kidney
Cystic kidney 		0.010 Biomarker disease BEFREE Overall, we reported a new mouse model for the OFD; and our data suggest that STAT3 inhibition may be a promising treatment for SCLT1-associated cystic kidney. 28486600 2017
CUI: C0023522
Disease: Leukodystrophy, Metachromatic
Leukodystrophy, Metachromatic 		0.010 Biomarker disease BEFREE The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy. 2066109 1991
CUI: C0023524
Disease: Leukoencephalopathy, Progressive Multifocal
Leukoencephalopathy, Progressive Multifocal 		0.010 Biomarker disease BEFREE It could be shown that the basic structures of the regulatory regions are similar between Sap-1 and isolates from cerebral PML. 1313631 1992
CUI: C0024530
Disease: Malaria
Malaria 		0.010 GeneticVariation disease BEFREE Targeted deletion of SAP1 in the rodent malaria parasite Plasmodium yoelii generated mutant parasites that traverse and invade hepatocytes normally but cannot initiate liver-stage development in vitro and in vivo. 18466298 2008
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 Biomarker disease BEFREE Among 72 polymerase chain reaction clones, one of the cDNA sequences encoded a novel potential PTP (stomach cancer-associated PTP, SAP-1). 8294459 1994
CUI: C0037231
Disease: Sjogren-Larsson Syndrome
Sjogren-Larsson Syndrome 		0.010 GeneticVariation disease BEFREE In conclusion, we identified compound heterozygous splice site variants of SCLT1 in a patient with a new form of ciliopathies that exhibits clinical features of SLS. 30425282 2018
CUI: C0243026
Disease: Sepsis
Sepsis 		0.010 Biomarker disease BEFREE Isolates of Candida albicans from the oral cavities of subjects at different stages of human immunodeficiency virus (HIV) infection or uninfected controls were examined for (i) production of aspartic proteinase(s), a putative virulence-associated factor(s); (ii) the presence in the fungal genome of two major genes (SAP1 and SAP2) of the aspartic proteinase family; and (iii) experimental pathogenicity in a murine model of systemic infection. 8550193 1996
CUI: C0275814
Disease: Streptococcal lymphadenitis of swine
Streptococcal lymphadenitis of swine 		0.010 GeneticVariation disease BEFREE In conclusion, we identified compound heterozygous splice site variants of SCLT1 in a patient with a new form of ciliopathies that exhibits clinical features of SLS. 30425282 2018
CUI: C0404521
Disease: Infective vaginitis
Infective vaginitis 		0.010 Biomarker disease BEFREE These data provide further evidence for a crucial role of Sap1 and Sap2 in C. albicans vaginal infections. 12761103 2003