×
Entrez Id:
8443
Gene Symbol:
GNPAT
GNPAT
0.920
Biomarker
disease
BEFREE
The human ortholog of Dhap-at , glyceronephosphate O-acyltransferase (GNPT ), is involved in rhizomelic chondrodysplasia punctata type 2 , an autosomal-recessive syndrome characterized by severe ID.
28605393
2017
×
Entrez Id:
8443
Gene Symbol:
GNPAT
GNPAT
0.920
Biomarker
disease
GENOMICS_ENGLAND
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
27604308
2016
×
Entrez Id:
8443
Gene Symbol:
GNPAT
GNPAT
0.920
GermlineCausalMutation
disease
ORPHANET
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.
21990100
2012
×
Entrez Id:
8443
Gene Symbol:
GNPAT
GNPAT
0.920
GeneticVariation
disease
UNIPROT
Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.
21990100
2012
×
Entrez Id:
8443
Gene Symbol:
GNPAT
GNPAT
0.920
Biomarker
disease
MGD
Defects in myelination, paranode organization and Purkinje cell innervation in the ether lipid-deficient mouse cerebellum.
19270340
2009
×
Entrez Id:
8443
Gene Symbol:
GNPAT
GNPAT
0.920
Biomarker
disease
MGD
Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice.
12874108
2003
×
Entrez Id:
8443
Gene Symbol:
GNPAT
GNPAT
0.920
GeneticVariation
disease
BEFREE
This information was used to analyse the GNPAT gene in 12 patients with GNPAT deficiency .
11237722
2001
×
Entrez Id:
8443
Gene Symbol:
GNPAT
GNPAT
0.920
GeneticVariation
disease
UNIPROT
Impaired membrane traffic in defective ether lipid biosynthesis.
11152660
2001
×
Entrez Id:
8443
Gene Symbol:
GNPAT
GNPAT
0.920
GeneticVariation
disease
UNIPROT
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2.
9536089
1998
×
Entrez Id:
8443
Gene Symbol:
GNPAT
GNPAT
0.920
Biomarker
disease
GENOMICS_ENGLAND
Human dihydroxyacetonephosphate acyltransferase deficiency: a new peroxisomal disorder.
1405476
1992
×
Entrez Id:
8443
Gene Symbol:
GNPAT
GNPAT
0.920
Biomarker
disease
CTD_human
×
Entrez Id:
8443
Gene Symbol:
GNPAT
GNPAT
0.920
CausalMutation
disease
CLINVAR