SGPL1, sphingosine-1-phosphate lyase 1, 8879

N. diseases: 85; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769259446
rs769259446
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C4540559
Disease:
NEPHROTIC SYNDROME, TYPE 14 		0.800 GeneticVariation UNIPROT Nephrotic syndrome and adrenal insufficiency caused by a variant in SGPL1. 30090628 2018
dbSNP: rs769259446
rs769259446
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C4540559
Disease:
NEPHROTIC SYNDROME, TYPE 14 		0.800 GeneticVariation UNIPROT Deficiency of the sphingosine-1-phosphate lyase SGPL1 is associated with congenital nephrotic syndrome and congenital adrenal calcifications. 28181337 2017
dbSNP: rs769259446
rs769259446
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C4540559
Disease:
NEPHROTIC SYNDROME, TYPE 14 		0.800 GeneticVariation UNIPROT Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency. 28165339 2017
dbSNP: rs769259446
rs769259446
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C4540559
Disease:
NEPHROTIC SYNDROME, TYPE 14 		0.800 GeneticVariation UNIPROT Sphingosine-1-phosphate lyase mutations cause primary adrenal insufficiency and steroid-resistant nephrotic syndrome. 28165343 2017
dbSNP: rs1131692255
rs1131692255
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C4540559
Disease:
NEPHROTIC SYNDROME, TYPE 14 		0.800 GeneticVariation UNIPROT
dbSNP: rs1131692255
rs1131692255
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C4540559
Disease:
NEPHROTIC SYNDROME, TYPE 14 		T 0.800 CausalMutation CLINVAR
dbSNP: rs769259446
rs769259446
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C4540559
Disease:
NEPHROTIC SYNDROME, TYPE 14 		A 0.800 CausalMutation CLINVAR
dbSNP: rs852121
rs852121
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs852121
rs852121
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs72818110
rs72818110
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C2985280
Disease:
Blood Protein Measurement 		A 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs1131692235
rs1131692235
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C4540559
Disease:
NEPHROTIC SYNDROME, TYPE 14 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131692252
rs1131692252
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C4540559
Disease:
NEPHROTIC SYNDROME, TYPE 14 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1131692253
rs1131692253
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C4540559
Disease:
NEPHROTIC SYNDROME, TYPE 14 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131692254
rs1131692254
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C4540559
Disease:
NEPHROTIC SYNDROME, TYPE 14 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs1131692256
rs1131692256
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C4540559
Disease:
NEPHROTIC SYNDROME, TYPE 14 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1437439236
rs1437439236
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C4540559
Disease:
NEPHROTIC SYNDROME, TYPE 14 		0.700 GeneticVariation UNIPROT
dbSNP: rs1564622701
rs1564622701
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C4540559
Disease:
NEPHROTIC SYNDROME, TYPE 14 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs746887949
rs746887949
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C4540559
Disease:
NEPHROTIC SYNDROME, TYPE 14 		T 0.700 CausalMutation CLINVAR
dbSNP: rs779485098
rs779485098
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C4540559
Disease:
NEPHROTIC SYNDROME, TYPE 14 		0.700 GeneticVariation UNIPROT
dbSNP: rs1437439236
rs1437439236
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C0027726
Disease:
Nephrotic Syndrome 		0.010 GeneticVariation BEFREE In this report we have performed whole-exome sequencing and identified a new homozygous variant in <i>SGPL1</i>, p.Arg340Trp, in a girl with nephrotic syndrome and Addison's disease. 30090628 2018
dbSNP: rs1437439236
rs1437439236
Entrez Id: 8879
Gene Symbol: SGPL1
SGPL1
CUI: C0001403
Disease:
Addison Disease 		0.010 GeneticVariation BEFREE In this report we have performed whole-exome sequencing and identified a new homozygous variant in <i>SGPL1</i>, p.Arg340Trp, in a girl with nephrotic syndrome and Addison's disease. 30090628 2018