Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8443
Gene name	Glyceronephosphate O-acyltransferase
Gene symbol	GNPAT
Synonyms (NCBI Gene)	DAP-ATDAPATDHAPATRCDP2
Chromosome	1
Chromosome location	1q42.2
Summary	This gene encodes an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoform

Show/Hide all (10)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434439	G>A	Pathogenic	Missense variant, coding sequence variant
rs121434440	C>T	Pathogenic	Missense variant, coding sequence variant
rs777894746	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1442079596	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1558334598	->A	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1558334625	->TT	Pathogenic	Frameshift variant, coding sequence variant
rs1571946866	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1571950208	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571957148	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1571960363	G>A	Pathogenic	Intron variant

115

Show/Hide all (115)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030370	hsa-miR-24-3p	Microarray	19748357
MIRT043262	hsa-miR-331-3p	CLASH	23622248
MIRT1025045	hsa-miR-1208	CLIP-seq
MIRT1025046	hsa-miR-1236	CLIP-seq
MIRT1025047	hsa-miR-1266	CLIP-seq
MIRT1025048	hsa-miR-2054	CLIP-seq
MIRT1025049	hsa-miR-2117	CLIP-seq
MIRT1025050	hsa-miR-339-5p	CLIP-seq
MIRT1025051	hsa-miR-3613-5p	CLIP-seq
MIRT1025052	hsa-miR-3664-3p	CLIP-seq
MIRT1025053	hsa-miR-3682-5p	CLIP-seq
MIRT1025054	hsa-miR-4273	CLIP-seq
MIRT1025055	hsa-miR-4330	CLIP-seq
MIRT1025056	hsa-miR-4518	CLIP-seq
MIRT1025057	hsa-miR-4711-3p	CLIP-seq
MIRT1025058	hsa-miR-4760-3p	CLIP-seq
MIRT1025059	hsa-miR-4764-5p	CLIP-seq
MIRT1025060	hsa-miR-4789-3p	CLIP-seq
MIRT1025061	hsa-miR-4803	CLIP-seq
MIRT1025062	hsa-miR-505	CLIP-seq
MIRT1025063	hsa-miR-548n	CLIP-seq
MIRT1025064	hsa-miR-548t	CLIP-seq
MIRT1025065	hsa-miR-561	CLIP-seq
MIRT1025066	hsa-miR-593	CLIP-seq
MIRT1025067	hsa-miR-670	CLIP-seq
MIRT1025068	hsa-miR-759	CLIP-seq
MIRT1025045	hsa-miR-1208	CLIP-seq
MIRT1025046	hsa-miR-1236	CLIP-seq
MIRT2003974	hsa-miR-1265	CLIP-seq
MIRT1025047	hsa-miR-1266	CLIP-seq
MIRT1025048	hsa-miR-2054	CLIP-seq
MIRT1025049	hsa-miR-2117	CLIP-seq
MIRT1025050	hsa-miR-339-5p	CLIP-seq
MIRT2003975	hsa-miR-3605-5p	CLIP-seq
MIRT1025051	hsa-miR-3613-5p	CLIP-seq
MIRT1025052	hsa-miR-3664-3p	CLIP-seq
MIRT1025053	hsa-miR-3682-5p	CLIP-seq
MIRT2003976	hsa-miR-4270	CLIP-seq
MIRT1025054	hsa-miR-4273	CLIP-seq
MIRT1025055	hsa-miR-4330	CLIP-seq
MIRT2003977	hsa-miR-4441	CLIP-seq
MIRT1025056	hsa-miR-4518	CLIP-seq
MIRT2003978	hsa-miR-4693-3p	CLIP-seq
MIRT1025057	hsa-miR-4711-3p	CLIP-seq
MIRT2003979	hsa-miR-4712-3p	CLIP-seq
MIRT1025059	hsa-miR-4764-5p	CLIP-seq
MIRT1025066	hsa-miR-593	CLIP-seq
MIRT1025067	hsa-miR-670	CLIP-seq
MIRT1025068	hsa-miR-759	CLIP-seq
MIRT2003974	hsa-miR-1265	CLIP-seq
MIRT1025047	hsa-miR-1266	CLIP-seq
MIRT1025050	hsa-miR-339-5p	CLIP-seq
MIRT2003975	hsa-miR-3605-5p	CLIP-seq
MIRT1025052	hsa-miR-3664-3p	CLIP-seq
MIRT2003976	hsa-miR-4270	CLIP-seq
MIRT2003977	hsa-miR-4441	CLIP-seq
MIRT1025056	hsa-miR-4518	CLIP-seq
MIRT2003979	hsa-miR-4712-3p	CLIP-seq
MIRT1025067	hsa-miR-670	CLIP-seq
MIRT1025046	hsa-miR-1236	CLIP-seq
MIRT2465379	hsa-miR-642a	CLIP-seq
MIRT1025045	hsa-miR-1208	CLIP-seq
MIRT1025046	hsa-miR-1236	CLIP-seq
MIRT1025047	hsa-miR-1266	CLIP-seq
MIRT2540632	hsa-miR-2110	CLIP-seq
MIRT2540633	hsa-miR-2115	CLIP-seq
MIRT1025049	hsa-miR-2117	CLIP-seq
MIRT1025052	hsa-miR-3664-3p	CLIP-seq
MIRT2540634	hsa-miR-3977	CLIP-seq
MIRT2003976	hsa-miR-4270	CLIP-seq
MIRT2540635	hsa-miR-4271	CLIP-seq
MIRT1025054	hsa-miR-4273	CLIP-seq
MIRT2540636	hsa-miR-4318	CLIP-seq
MIRT1025055	hsa-miR-4330	CLIP-seq
MIRT2003977	hsa-miR-4441	CLIP-seq
MIRT1025056	hsa-miR-4518	CLIP-seq
MIRT2540637	hsa-miR-4520a-5p	CLIP-seq
MIRT2540638	hsa-miR-4520b-5p	CLIP-seq
MIRT2003979	hsa-miR-4712-3p	CLIP-seq
MIRT2540639	hsa-miR-4725-3p	CLIP-seq
MIRT2540640	hsa-miR-491-5p	CLIP-seq
MIRT2540641	hsa-miR-516a-3p	CLIP-seq
MIRT2540642	hsa-miR-541	CLIP-seq
MIRT2540643	hsa-miR-548g	CLIP-seq
MIRT2540644	hsa-miR-614	CLIP-seq
MIRT2465379	hsa-miR-642a	CLIP-seq
MIRT2540645	hsa-miR-654-5p	CLIP-seq
MIRT1025068	hsa-miR-759	CLIP-seq
MIRT1025045	hsa-miR-1208	CLIP-seq
MIRT1025046	hsa-miR-1236	CLIP-seq
MIRT1025047	hsa-miR-1266	CLIP-seq
MIRT2540632	hsa-miR-2110	CLIP-seq
MIRT2540633	hsa-miR-2115	CLIP-seq
MIRT1025049	hsa-miR-2117	CLIP-seq
MIRT1025052	hsa-miR-3664-3p	CLIP-seq
MIRT2540634	hsa-miR-3977	CLIP-seq
MIRT2003976	hsa-miR-4270	CLIP-seq
MIRT2540635	hsa-miR-4271	CLIP-seq
MIRT1025054	hsa-miR-4273	CLIP-seq
MIRT2540636	hsa-miR-4318	CLIP-seq
MIRT1025055	hsa-miR-4330	CLIP-seq
MIRT2003977	hsa-miR-4441	CLIP-seq
MIRT1025056	hsa-miR-4518	CLIP-seq
MIRT2540637	hsa-miR-4520a-5p	CLIP-seq
MIRT2540638	hsa-miR-4520b-5p	CLIP-seq
MIRT2003979	hsa-miR-4712-3p	CLIP-seq
MIRT2540639	hsa-miR-4725-3p	CLIP-seq
MIRT2540640	hsa-miR-491-5p	CLIP-seq
MIRT2540641	hsa-miR-516a-3p	CLIP-seq
MIRT2540642	hsa-miR-541	CLIP-seq
MIRT2540643	hsa-miR-548g	CLIP-seq
MIRT2540644	hsa-miR-614	CLIP-seq
MIRT2465379	hsa-miR-642a	CLIP-seq
MIRT2540645	hsa-miR-654-5p	CLIP-seq
MIRT1025068	hsa-miR-759	CLIP-seq

Show/Hide all (33)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003824	Function	Catalytic activity	IEA
GO:0005777	Component	Peroxisome	IDA	15687349
GO:0005777	Component	Peroxisome	IEA
GO:0005777	Component	Peroxisome	NAS	9459311
GO:0005778	Component	Peroxisomal membrane	HDA	21525035
GO:0005778	Component	Peroxisomal membrane	IBA
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005782	Component	Peroxisomal matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006650	Process	Glycerophospholipid metabolic process	IEA
GO:0006654	Process	Phosphatidic acid biosynthetic process	TAS
GO:0007416	Process	Synapse assembly	IEA
GO:0008374	Function	O-acyltransferase activity	IEA
GO:0008611	Process	Ether lipid biosynthetic process	IBA
GO:0008611	Process	Ether lipid biosynthetic process	IDA	15687349
GO:0008611	Process	Ether lipid biosynthetic process	IEA
GO:0008611	Process	Ether lipid biosynthetic process	IEA
GO:0008611	Process	Ether lipid biosynthetic process	TAS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016287	Function	Glycerone-phosphate O-acyltransferase activity	IBA
GO:0016287	Function	Glycerone-phosphate O-acyltransferase activity	IDA	8186247, 9536089, 10395968, 11152660, 15687349
GO:0016287	Function	Glycerone-phosphate O-acyltransferase activity	IEA
GO:0016287	Function	Glycerone-phosphate O-acyltransferase activity	TAS
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0021587	Process	Cerebellum morphogenesis	IEA
GO:0030054	Component	Cell junction	IDA
GO:0030913	Process	Paranodal junction assembly	IEA
GO:0042552	Process	Myelination	IEA
GO:0061024	Process	Membrane organization	IEA

MIM	HGNC	e!Ensembl
602744	4416	ENSG00000116906

O15228

Protein name

Dihydroxyacetone phosphate acyltransferase (DAP-AT) (DAPAT) (DHAP-AT) (EC 2.3.1.42) (Acyl-CoA:dihydroxyacetonephosphateacyltransferase) (Glycerone-phosphate O-acyltransferase)

Protein function

Dihydroxyacetonephosphate acyltransferase catalyzing the first step in the biosynthesis of plasmalogens, a subset of phospholipids that differ from other glycerolipids by having an alkyl chain attached through a vinyl ether linkage at the sn-1 p

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01553	Acyltransferase	138 → 283	Acyltransferase	Family

Sequence

MESSSSSNSYFSVGPTSPSAVVLLYSKELKKWDEFEDILEERRHVSDLKFAMKCYTPLVY
KGITPCKPIDIKCSVLNSEEIHYVIKQLSKESLQSVDVLREEVSEILDEMSHKLRLGAIR
FCAFTLSKVFKQIFSKVCVNEEGIQKLQRAIQEHPVVLLPSHRSYIDFLMLSFLLYNYDL
PVPVIAAGMDFLGMKMVGELLRMSGAFFMRRTFGGNKLYWAVFSEYVKTMLRNGYAPVEF
FLEGTRSRSAKTLTPKFGLLNIVMEPFFKREVFDTYLVPISISYDKILEETLYVYELLGV
PKPKESTTGLLKARKILSENFGSIHVYFGDPVSLRSLAAGRMSRSSYNLVPRYIPQKQSE
DMHAFVTEVAYKMELLQIENMVLSPWTLIVAVLLQNRPSMDFDALVEKTLWLKGLTQAFG
GFLIWPDNKPAEEVVPASILLHSNIASLVKDQVILKVDSGDSEVVDGLMLQHITLLMCSA
YRNQLLNIFVRPSLVAVALQMTPGFRKEDVYSCFRFLRDVFADEFIFLPGNTLKDFEEGC
YLLCKSEAIQVTTKDILVTEKGNTVLEFLVGLFKPFVESYQIICKYLLSEEEDHFSEEQY
LAAVRKFTSQLLDQGTSQCYDVLSSDVQKNALAACVRLGVVEKKKINNNCIFNVNEPATT
KLEEMLGCKTPIGKPATAKL

Sequence length

680

Interactions

View interactions

	KEGG		Reactome
	Glycerophospholipid metabolism Peroxisome		Synthesis of PA Plasmalogen biosynthesis Peroxisomal protein import

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
GNPAT-related disorder	Likely pathogenic	rs777894746	RCV003411694	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhizomelic chondrodysplasia punctata	Pathogenic; Likely pathogenic	rs2102825068, rs121434440	RCV001526991 RCV003234895	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rhizomelic chondrodysplasia punctata type 2	Pathogenic; Likely pathogenic	rs745869264, rs1685194348, rs749069446, rs1283169932, rs121434439, rs121434440, rs1558334625, rs1571950208, rs1571957148, rs2527028635, rs1185964193, rs2527044284, rs2527024495, rs2526967162, rs2527024941 View all (22 more)	RCV001844353 RCV001782213 RCV004571718 RCV004571191 RCV000007243 View all (32 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (37)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Attention Deficit Disorder	Attention Deficit Hyperactivity Disorder	BEFREE	16997000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	16997000, 30759250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30759250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata Rhizomelic	Chondrodysplasia	Pubtator	10553003	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata Rhizomelic	Chondrodysplasia	Pubtator	25439727, 34110102, 8466247	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrodysplasia Punctata, Rhizomelic	Chondrodysplasia Punctata	BEFREE	20583171, 21990100, 22008564, 25439727		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia Punctata, Rhizomelic	Chondrodysplasia Punctata	GENOMICS_ENGLAND_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrodysplasia punctata, X-linked dominant type	Chondrodysplasia Punctata	BEFREE	8832947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	28425416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	27740525, 28425416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	27740525, 28425416, 32652459	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	27740525, 28425416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron Overload	BEFREE	25605615, 27740525		★★★★★ ★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	25605615, 27740525, 32652459	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	30143522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	30143522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30143522		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23020131	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30759250		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelic chondrodysplasia punctata type 2	Rhizomelic Chondrodysplasia Punctata	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rhizomelic chondrodysplasia punctata, type 2	Rhizomelic chondrodysplasia punctata	UNIPROT_DG	11152660, 21990100, 9536089		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhizomelic chondrodysplasia punctata, type 2	Rhizomelic chondrodysplasia punctata	BEFREE	11237722, 28605393		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhizomelic chondrodysplasia punctata, type 2	Rhizomelic chondrodysplasia punctata	GENOMICS_ENGLAND_DG	1405476, 27604308		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhizomelic chondrodysplasia punctata, type 2	Rhizomelic chondrodysplasia punctata	ORPHANET_DG	21990100		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhizomelic chondrodysplasia punctata, type 2	Rhizomelic chondrodysplasia punctata	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rhizomelic chondrodysplasia punctata, type 2	Rhizomelic chondrodysplasia punctata	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	16997000		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	16997000		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Zellweger Syndrome	Zellweger Syndrome	BEFREE	30317186, 3123783, 3646870, 4070172		★★★★★ ★☆☆☆☆ Found in Text Mining only

GNPAT (glyceronephosphate O-acyltransferase)