SGPL1, sphingosine-1-phosphate lyase 1, 8879

N. diseases: 85; N. variants: 13
Disease: Adrenal gland hypofunction ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.400 Biomarker phenotype GENOMICS_ENGLAND In 7 families with SRNS and facultative ichthyosis, adrenal insufficiency, immunodeficiency, and neurological defects, we identified 9 different recessive mutations in SGPL1, which encodes sphingosine-1-phosphate (S1P) lyase. 28165339 2017
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.400 Biomarker phenotype HPO