SGPL1, sphingosine-1-phosphate lyase 1, 8879

N. diseases: 85; N. variants: 13
Disease: NEPHROTIC SYNDROME, TYPE 14 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.710 GeneticVariation disease BEFREE Most recently, three groups found concurrently the underlying genetic defect in the gene sphingosine-1-phosphate lyase 1 (<i>SGPL1</i>) and called the disease nephrotic syndrome type 14 (NPHS14). 30090628 2018
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.710 GeneticVariation disease UNIPROT Most recently, three groups found concurrently the underlying genetic defect in the gene sphingosine-1-phosphate lyase 1 (<i>SGPL1</i>) and called the disease nephrotic syndrome type 14 (NPHS14). 30090628 2018
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.710 Biomarker disease GENOMICS_ENGLAND Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications. 28181337 2017
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.710 GeneticVariation disease UNIPROT Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. 28165343 2017
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.710 GermlineCausalMutation disease ORPHANET Genetics: SGPL1 mutations cause a novel SRNS syndrome. 28218265 2017
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.710 GeneticVariation disease UNIPROT Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. 28165339 2017
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.710 GermlineCausalMutation disease ORPHANET Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications. 28181337 2017
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.710 Biomarker disease GENOMICS_ENGLAND Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. 28165343 2017
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.710 GeneticVariation disease UNIPROT Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications. 28181337 2017
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.710 GermlineCausalMutation disease ORPHANET Prenatal bilateral adrenal calcifications, hypogonadism, and nephrotic syndrome: beyond Wolman disease. 24777844 2014
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.710 CausalMutation disease CLINVAR
CUI: C4540559
Disease: NEPHROTIC SYNDROME, TYPE 14
NEPHROTIC SYNDROME, TYPE 14 		0.710 GeneticVariation disease CLINVAR