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 Biomarker disease GENOMICS_ENGLAND Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. 24285566 2014
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 Biomarker disease GENOMICS_ENGLAND Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Løken syndrome. 30425282 2018
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: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.310 Biomarker disease GENOMICS_ENGLAND Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing. 28005958 2016
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.310 Biomarker disease GENOMICS_ENGLAND Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. 24285566 2014
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 Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly. 28486600 2017
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 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: C4277690
Disease: Ciliopathies
Ciliopathies 		0.240 Biomarker disease MGD
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.200 Biomarker disease MGD Sclt1 deficiency causes cystic kidney by activating ERK and STAT3 signaling. 28486600 2017
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.100 GeneticVariation disease GWASCAT Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. 24621683 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: 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: 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: C3714731
Disease: Early childhood caries
Early childhood caries 		0.010 AlteredExpression disease BEFREE Moreover, secreted aspartic protease (Sap) activity and SAP1-5 transcriptional levels were compared in the ECC and caries-free (CF) groups of Uygur children. 30518349 2018
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: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		0.010 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: C1709353
Disease: Osteofibrous Dysplasia
Osteofibrous Dysplasia 		0.010 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: 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: 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: C0687120
Disease: Nephronophthisis
Nephronophthisis 		0.010 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