PISD, phosphatidylserine decarboxylase, 23761

N. diseases: 13; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011053
Disease: Deafness
Deafness 		0.300 Biomarker phenotype GENOMICS_ENGLAND PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. 30858161 2019
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.300 Biomarker disease GENOMICS_ENGLAND PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. 30858161 2019
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0.300 Biomarker group GENOMICS_ENGLAND PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. 30858161 2019
CUI: C0086543
Disease: Cataract
Cataract 		0.300 Biomarker disease GENOMICS_ENGLAND PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. 30858161 2019
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.300 Biomarker disease GENOMICS_ENGLAND PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. 30858161 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.300 Biomarker group GENOMICS_ENGLAND PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes. 30858161 2019
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASDB Genome-wide association study of intelligence: additive effects of novel brain expressed genes. 22449649 2012
CUI: C0021704
Disease: Intelligence
Intelligence 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of intelligence: additive effects of novel brain expressed genes. 22449649 2012
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		0.010 GeneticVariation disease BEFREE The homozygous variant c.797G>A/p.(Cys266Tyr) in PISD is associated with a Spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function. 30488656 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.010 Biomarker group BEFREE PISD regulated multiple aspects of mitochondria, highlighting mitochondrial functions as therapeutic targets against cancer stem cells. 29321615 2018
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Functional Isolation of Tumor-Initiating Cells using Microfluidic-Based Migration Identifies Phosphatidylserine Decarboxylase as a Key Regulator. 29321615 2018
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 Biomarker disease BEFREE In the gene cluster network analysis, the expression of FOX family-associated genes, including nuclear receptor coactivator (<i>NCOA</i>)<i>1</i>, NADH-ubiquinone oxidoreductase flavoprotein 3 (<i>NDUFV3</i>), phosphatidylserine decarboxylase (<i>PISD</i>) and pyruvate kinase liver and red blood cell (<i>PKLR</i>), were independent prognostic factors for OS in patients with ccRCC. 29805604 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 Biomarker group BEFREE PISD regulated multiple aspects of mitochondria, highlighting mitochondrial functions as therapeutic targets against cancer stem cells. 29321615 2018
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		0.010 GeneticVariation disease BEFREE Only basaloid and half of usual-type PSSCs correlate with HPV infection, confirming possible separate aetiologies for those tumours. 21323963 2011