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	284098
Gene name	Phosphatidylinositol glycan anchor biosynthesis class W
Gene symbol	PIGW
Synonyms (NCBI Gene)	Gwt1HPMRS5
Chromosome	17
Chromosome location	17q12
Summary	The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many c

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs147622852	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs200024253	A>G	Pathogenic	Missense variant, coding sequence variant
rs753385776	TTTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1256773607	A>G	Pathogenic	Missense variant, coding sequence variant

221

Show/Hide all (221)

miRTarBase ID	miRNA	Experiments	Reference
MIRT547112	hsa-miR-200a-3p	PAR-CLIP	21572407
MIRT547111	hsa-miR-141-3p	PAR-CLIP	21572407
MIRT286845	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT286843	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT286847	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT286846	hsa-miR-3163	PAR-CLIP	21572407
MIRT547110	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT547109	hsa-miR-5692b	PAR-CLIP	21572407
MIRT547107	hsa-miR-5692c	PAR-CLIP	21572407
MIRT547108	hsa-miR-218-2-3p	PAR-CLIP	21572407
MIRT547106	hsa-miR-758-5p	PAR-CLIP	21572407
MIRT547105	hsa-miR-4738-3p	PAR-CLIP	21572407
MIRT286844	hsa-miR-584-5p	PAR-CLIP	21572407
MIRT547112	hsa-miR-200a-3p	PAR-CLIP	21572407
MIRT547111	hsa-miR-141-3p	PAR-CLIP	21572407
MIRT286845	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT286843	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT286847	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT286846	hsa-miR-3163	PAR-CLIP	21572407
MIRT547110	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT547109	hsa-miR-5692b	PAR-CLIP	21572407
MIRT547107	hsa-miR-5692c	PAR-CLIP	21572407
MIRT547108	hsa-miR-218-2-3p	PAR-CLIP	21572407
MIRT547106	hsa-miR-758-5p	PAR-CLIP	21572407
MIRT547105	hsa-miR-4738-3p	PAR-CLIP	21572407
MIRT286844	hsa-miR-584-5p	PAR-CLIP	21572407
MIRT547112	hsa-miR-200a-3p	PAR-CLIP	21572407
MIRT547111	hsa-miR-141-3p	PAR-CLIP	21572407
MIRT286845	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT286843	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT286847	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT286846	hsa-miR-3163	PAR-CLIP	21572407
MIRT547110	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT547109	hsa-miR-5692b	PAR-CLIP	21572407
MIRT547107	hsa-miR-5692c	PAR-CLIP	21572407
MIRT547108	hsa-miR-218-2-3p	PAR-CLIP	21572407
MIRT547106	hsa-miR-758-5p	PAR-CLIP	21572407
MIRT547105	hsa-miR-4738-3p	PAR-CLIP	21572407
MIRT286844	hsa-miR-584-5p	PAR-CLIP	21572407
MIRT547112	hsa-miR-200a-3p	PAR-CLIP	21572407
MIRT547111	hsa-miR-141-3p	PAR-CLIP	21572407
MIRT286845	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT286843	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT286847	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT286846	hsa-miR-3163	PAR-CLIP	21572407
MIRT547110	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT547109	hsa-miR-5692b	PAR-CLIP	21572407
MIRT547107	hsa-miR-5692c	PAR-CLIP	21572407
MIRT547108	hsa-miR-218-2-3p	PAR-CLIP	21572407
MIRT547106	hsa-miR-758-5p	PAR-CLIP	21572407
MIRT547105	hsa-miR-4738-3p	PAR-CLIP	21572407
MIRT286844	hsa-miR-584-5p	PAR-CLIP	21572407
MIRT1233619	hsa-miR-1208	CLIP-seq
MIRT1233620	hsa-miR-141	CLIP-seq
MIRT1233621	hsa-miR-200a	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT1233623	hsa-miR-34c-3p	CLIP-seq
MIRT1233624	hsa-miR-3614-5p	CLIP-seq
MIRT1233625	hsa-miR-3672	CLIP-seq
MIRT1233626	hsa-miR-3689a-3p	CLIP-seq
MIRT1233627	hsa-miR-3689c	CLIP-seq
MIRT1233628	hsa-miR-374a	CLIP-seq
MIRT1233629	hsa-miR-374b	CLIP-seq
MIRT1233630	hsa-miR-4423-5p	CLIP-seq
MIRT1233631	hsa-miR-4433	CLIP-seq
MIRT1233632	hsa-miR-4455	CLIP-seq
MIRT1233633	hsa-miR-4659a-3p	CLIP-seq
MIRT1233634	hsa-miR-4659b-3p	CLIP-seq
MIRT1233635	hsa-miR-4694-5p	CLIP-seq
MIRT1233636	hsa-miR-4728-5p	CLIP-seq
MIRT1233637	hsa-miR-4761-5p	CLIP-seq
MIRT1233638	hsa-miR-4778-3p	CLIP-seq
MIRT1233639	hsa-miR-4786-5p	CLIP-seq
MIRT1233640	hsa-miR-584	CLIP-seq
MIRT1233641	hsa-miR-609	CLIP-seq
MIRT1233642	hsa-miR-653	CLIP-seq
MIRT1233643	hsa-miR-769-5p	CLIP-seq
MIRT1552312	hsa-miR-1273f	CLIP-seq
MIRT1552313	hsa-miR-143	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT1552314	hsa-miR-4708-5p	CLIP-seq
MIRT1552315	hsa-miR-4770	CLIP-seq
MIRT2068768	hsa-miR-1202	CLIP-seq
MIRT1552312	hsa-miR-1273f	CLIP-seq
MIRT1552313	hsa-miR-143	CLIP-seq
MIRT2068769	hsa-miR-183	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT2068770	hsa-miR-3194-5p	CLIP-seq
MIRT2068771	hsa-miR-3664-3p	CLIP-seq
MIRT2068772	hsa-miR-3972	CLIP-seq
MIRT1233631	hsa-miR-4433	CLIP-seq
MIRT1552314	hsa-miR-4708-5p	CLIP-seq
MIRT1552315	hsa-miR-4770	CLIP-seq
MIRT2068773	hsa-miR-510	CLIP-seq
MIRT2068774	hsa-miR-512-5p	CLIP-seq
MIRT2068775	hsa-miR-548c-3p	CLIP-seq
MIRT2068768	hsa-miR-1202	CLIP-seq
MIRT2295828	hsa-miR-1238	CLIP-seq
MIRT1552312	hsa-miR-1273f	CLIP-seq
MIRT2295829	hsa-miR-1285	CLIP-seq
MIRT2295830	hsa-miR-132	CLIP-seq
MIRT1552313	hsa-miR-143	CLIP-seq
MIRT2068769	hsa-miR-183	CLIP-seq
MIRT2295831	hsa-miR-194	CLIP-seq
MIRT2295832	hsa-miR-212	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT2295833	hsa-miR-3187-5p	CLIP-seq
MIRT2068770	hsa-miR-3194-5p	CLIP-seq
MIRT2295834	hsa-miR-323-5p	CLIP-seq
MIRT1233624	hsa-miR-3614-5p	CLIP-seq
MIRT2295835	hsa-miR-3622b-5p	CLIP-seq
MIRT2068771	hsa-miR-3664-3p	CLIP-seq
MIRT1233625	hsa-miR-3672	CLIP-seq
MIRT2295836	hsa-miR-3926	CLIP-seq
MIRT2295837	hsa-miR-3945	CLIP-seq
MIRT2068772	hsa-miR-3972	CLIP-seq
MIRT2295838	hsa-miR-4253	CLIP-seq
MIRT2295839	hsa-miR-4282	CLIP-seq
MIRT1233631	hsa-miR-4433	CLIP-seq
MIRT2295840	hsa-miR-4691-5p	CLIP-seq
MIRT1552314	hsa-miR-4708-5p	CLIP-seq
MIRT2295841	hsa-miR-4709-5p	CLIP-seq
MIRT1552315	hsa-miR-4770	CLIP-seq
MIRT1233639	hsa-miR-4786-5p	CLIP-seq
MIRT2295842	hsa-miR-508-5p	CLIP-seq
MIRT2068773	hsa-miR-510	CLIP-seq
MIRT2068774	hsa-miR-512-5p	CLIP-seq
MIRT2295843	hsa-miR-548s	CLIP-seq
MIRT2295844	hsa-miR-555	CLIP-seq
MIRT2295845	hsa-miR-612	CLIP-seq
MIRT2295846	hsa-miR-661	CLIP-seq
MIRT2295847	hsa-miR-766	CLIP-seq
MIRT1233643	hsa-miR-769-5p	CLIP-seq
MIRT2295848	hsa-miR-876-3p	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT2295829	hsa-miR-1285	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT2295833	hsa-miR-3187-5p	CLIP-seq
MIRT2456486	hsa-miR-3675-3p	CLIP-seq
MIRT2456487	hsa-miR-4684-5p	CLIP-seq
MIRT2068775	hsa-miR-548c-3p	CLIP-seq
MIRT2295845	hsa-miR-612	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT2593880	hsa-miR-1228	CLIP-seq
MIRT1552312	hsa-miR-1273f	CLIP-seq
MIRT2295829	hsa-miR-1285	CLIP-seq
MIRT1552313	hsa-miR-143	CLIP-seq
MIRT2068769	hsa-miR-183	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT2593881	hsa-miR-3120-5p	CLIP-seq
MIRT2593882	hsa-miR-3122	CLIP-seq
MIRT2295833	hsa-miR-3187-5p	CLIP-seq
MIRT2295834	hsa-miR-323-5p	CLIP-seq
MIRT1233623	hsa-miR-34c-3p	CLIP-seq
MIRT2593883	hsa-miR-3613-3p	CLIP-seq
MIRT1233624	hsa-miR-3614-5p	CLIP-seq
MIRT2295835	hsa-miR-3622b-5p	CLIP-seq
MIRT2593884	hsa-miR-3664-5p	CLIP-seq
MIRT1233625	hsa-miR-3672	CLIP-seq
MIRT2456486	hsa-miR-3675-3p	CLIP-seq
MIRT1233626	hsa-miR-3689a-3p	CLIP-seq
MIRT1233627	hsa-miR-3689c	CLIP-seq
MIRT2593885	hsa-miR-371-5p	CLIP-seq
MIRT2593886	hsa-miR-371b-5p	CLIP-seq
MIRT2593887	hsa-miR-3913-5p	CLIP-seq
MIRT2295836	hsa-miR-3926	CLIP-seq
MIRT2295837	hsa-miR-3945	CLIP-seq
MIRT2295838	hsa-miR-4253	CLIP-seq
MIRT2593888	hsa-miR-4432	CLIP-seq
MIRT1233631	hsa-miR-4433	CLIP-seq
MIRT1233632	hsa-miR-4455	CLIP-seq
MIRT2593889	hsa-miR-4470	CLIP-seq
MIRT2593890	hsa-miR-4522	CLIP-seq
MIRT2456487	hsa-miR-4684-5p	CLIP-seq
MIRT1233635	hsa-miR-4694-5p	CLIP-seq
MIRT1552314	hsa-miR-4708-5p	CLIP-seq
MIRT1233636	hsa-miR-4728-5p	CLIP-seq
MIRT1233637	hsa-miR-4761-5p	CLIP-seq
MIRT1552315	hsa-miR-4770	CLIP-seq
MIRT1233639	hsa-miR-4786-5p	CLIP-seq
MIRT2068775	hsa-miR-548c-3p	CLIP-seq
MIRT2295843	hsa-miR-548s	CLIP-seq
MIRT1233641	hsa-miR-609	CLIP-seq
MIRT2295845	hsa-miR-612	CLIP-seq
MIRT1233643	hsa-miR-769-5p	CLIP-seq
MIRT2295848	hsa-miR-876-3p	CLIP-seq
MIRT2593880	hsa-miR-1228	CLIP-seq
MIRT1552312	hsa-miR-1273f	CLIP-seq
MIRT2295829	hsa-miR-1285	CLIP-seq
MIRT1552313	hsa-miR-143	CLIP-seq
MIRT2068769	hsa-miR-183	CLIP-seq
MIRT1233622	hsa-miR-2964a-3p	CLIP-seq
MIRT2593882	hsa-miR-3122	CLIP-seq
MIRT2295833	hsa-miR-3187-5p	CLIP-seq
MIRT2295834	hsa-miR-323-5p	CLIP-seq
MIRT1233623	hsa-miR-34c-3p	CLIP-seq
MIRT1233624	hsa-miR-3614-5p	CLIP-seq
MIRT2295835	hsa-miR-3622b-5p	CLIP-seq
MIRT2456486	hsa-miR-3675-3p	CLIP-seq
MIRT1233626	hsa-miR-3689a-3p	CLIP-seq
MIRT1233627	hsa-miR-3689c	CLIP-seq
MIRT2593887	hsa-miR-3913-5p	CLIP-seq
MIRT2295836	hsa-miR-3926	CLIP-seq
MIRT2295837	hsa-miR-3945	CLIP-seq
MIRT2295838	hsa-miR-4253	CLIP-seq
MIRT1233631	hsa-miR-4433	CLIP-seq
MIRT1233632	hsa-miR-4455	CLIP-seq
MIRT2593889	hsa-miR-4470	CLIP-seq
MIRT2456487	hsa-miR-4684-5p	CLIP-seq
MIRT1233635	hsa-miR-4694-5p	CLIP-seq
MIRT1552314	hsa-miR-4708-5p	CLIP-seq
MIRT1233636	hsa-miR-4728-5p	CLIP-seq
MIRT1233637	hsa-miR-4761-5p	CLIP-seq
MIRT1552315	hsa-miR-4770	CLIP-seq
MIRT1233639	hsa-miR-4786-5p	CLIP-seq
MIRT2068775	hsa-miR-548c-3p	CLIP-seq
MIRT2295843	hsa-miR-548s	CLIP-seq
MIRT1233641	hsa-miR-609	CLIP-seq
MIRT2295845	hsa-miR-612	CLIP-seq
MIRT1233643	hsa-miR-769-5p	CLIP-seq
MIRT2295848	hsa-miR-876-3p	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	ISS
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006505	Process	GPI anchor metabolic process	IC	24367057
GO:0006505	Process	GPI anchor metabolic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	IBA
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0006506	Process	GPI anchor biosynthetic process	ISS
GO:0006506	Process	GPI anchor biosynthetic process	TAS
GO:0008374	Function	O-acyltransferase activity	IEA
GO:0008374	Function	O-acyltransferase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0032216	Function	Glucosaminyl-phosphatidylinositol O-acyltransferase activity	IBA
GO:0032216	Function	Glucosaminyl-phosphatidylinositol O-acyltransferase activity	ISS
GO:0072659	Process	Protein localization to plasma membrane	IMP	24367057

MIM	HGNC	e!Ensembl
610275	23213	ENSG00000277161

Q7Z7B1

Protein name

Glucosaminyl-phosphatidylinositol-acyltransferase PIGW (GlcN-PI-acyltransferase) (EC 2.3.-.-) (Phosphatidylinositol-glycan biosynthesis class W protein) (PIG-W)

Protein function

Acyltransferase that catalyzes the acyl transfer from an acyl-CoA at the 2-OH position of the inositol ring of glucosaminyl phosphatidylinositol (GlcN-PI) to generate glucosaminyl acyl phosphatidylinositol (GlcN-(acyl)PI) and participates in the

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06423	GWT1	301 → 463	GWT1	Family

Sequence

MSEKQMKEAFVSNLNGTTVLEITQGLCFPAFCILCRGFLIIFSQYLCSFSPTWKTRFLTD
FVVLIVPMVATLTIWASFILLELLGVIIFGAGLLYQIYRRRTCYARLPFLKILEKFLNIS
LESEYNPAISCFRVITSAFTAIAILAVDFPLFPRRFAKTELYGTGAMDFGVGGFVFGSAM
VCLEVRRRKYMEGSKLHYFTNSLYSVWPLVFLGIGRLAIIKSIGYQEHLTEYGVHWNFFF
TIIVVKLITPLLLIIFPLNKSWIIALGITVLYQLALDFTSLKRLILYGTDGSGTRVGLLN
ANREGIISTLGYVAIHMAGVQTGLYMHKNRSHIKDLIKVACFLLLAAISLFISLYVVQVN
VEAVSRRMANLAFCIWIVASSLILLSSLLLGDIILSFAKFLIKGALVPCSWKLIQSPVTN
KKHSESLVPEAERMEPSLCLITALNRKQLIFFLLSNITTGLINLMVDTLHSSTLWALFVV
NLYMFSNCLIVYVLYLQDKTVQFW

Sequence length

504

Interactions

View interactions

	KEGG		Reactome
	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways		Synthesis of glycosylphosphatidylinositol (GPI)

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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hyperphosphatasia with intellectual disability syndrome 5	Likely pathogenic; Pathogenic	rs2074173475, rs587777733, rs2510226231, rs1170311490, rs2510225840, rs1256773607	RCV001333101 RCV000144174 RCV002282715 RCV002282716 RCV002282717 RCV000585892 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (15)

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.
Abnormal skeletal morphology	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR I DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cleft palate	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Global developmental delay	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPHOSPHATASEMIA WITH INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPHOSPHATASIA WITH MENTAL RETARDATION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPHOSPHATASIA-INTELLECTUAL DISABILITY SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PIGW-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URANOSTAPHYLOSCHISIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (50)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Accessory nipple	Accessory Nipple	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic behavior	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	36938730	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	30813920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital diaphragmatic hernia	Congenital diaphragmatic hernia	BEFREE	25425496		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	BEFREE	30078644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30078644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	30813920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	37979250	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11	Glycosylphosphatidylinositol deficiency	GENOMICS_ENGLAND_DG	24367057, 30078644		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11	Glycosylphosphatidylinositol deficiency	UNIPROT_DG	24367057		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 11	Glycosylphosphatidylinositol deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glycosylphosphatidylinositol deficiency	Glycosylphosphatidylinositol Deficiency	BEFREE	27626616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycosylphosphatidylinositol deficiency	Glycosylphosphatidylinositol Deficiency	ORPHANET_DG	27626616		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	Hypercoagulability Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperphosphatasia with Mental Retardation	Hyperphosphatasia With Mental Retardation	BEFREE	24367057		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperphosphatasia with Mental Retardation	Hyperphosphatasia With Mental Retardation	ORPHANET_DG	24367057		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperphosphatasia with Mental Retardation	Hyperphosphatasia with intellectual disability syndrome	Pubtator	30813920	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperphosphatasia with Mental Retardation	Hyperphosphatasia With Mental Retardation	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperphosphatasia-intellectual disability syndrome	Hyperphosphatasia With Mental Retardation	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infantile Spasm	Infantile Spasms	BEFREE	30078644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	30813920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	30813920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macroglossia	Macroglossia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	30813920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	30078644		★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30813920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Plagiocephaly	Plagiocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	30813920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	BEFREE	24367057, 30078644		★★★★★ ★☆☆☆☆ Found in Text Mining only

PIGW (phosphatidylinositol glycan anchor biosynthesis class W)