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	51604
Gene name	Phosphatidylinositol glycan anchor biosynthesis class T
Gene symbol	PIGT
Synonyms (NCBI Gene)	CGI-06MCAHS3NDAPPIG-TPNH2
Chromosome	20
Chromosome location	20q13.12
Summary	This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is an essential component of t

Show/Hide all (6)

SNP ID	Visualize variation	Clinical significance	Consequence
rs199968454	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs201317502	C>G,T	Not-provided, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs527236032	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs571714796	G>A,T	Pathogenic	Non coding transcript variant, intron variant, coding sequence variant, missense variant
rs751861982	->C	Pathogenic, not-provided	Coding sequence variant, non coding transcript variant, frameshift variant
rs1277383877	G>T	Likely-pathogenic, pathogenic	Non coding transcript variant, intron variant, missense variant, coding sequence variant

108

Show/Hide all (108)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023683	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT050113	hsa-miR-26a-5p	CLASH	23622248
MIRT047380	hsa-miR-34a-5p	CLASH	23622248
MIRT2295822	hsa-miR-1587	CLIP-seq
MIRT2295823	hsa-miR-4674	CLIP-seq
MIRT2295824	hsa-miR-635	CLIP-seq
MIRT2439478	hsa-miR-1202	CLIP-seq
MIRT2439479	hsa-miR-1825	CLIP-seq
MIRT2439480	hsa-miR-3187-3p	CLIP-seq
MIRT2439481	hsa-miR-3194-5p	CLIP-seq
MIRT2439482	hsa-miR-3972	CLIP-seq
MIRT2439483	hsa-miR-4435	CLIP-seq
MIRT2439484	hsa-miR-4652-3p	CLIP-seq
MIRT2439485	hsa-miR-4701-5p	CLIP-seq
MIRT2439486	hsa-miR-512-3p	CLIP-seq
MIRT2439487	hsa-miR-548s	CLIP-seq
MIRT2439488	hsa-miR-588	CLIP-seq
MIRT2439489	hsa-miR-892a	CLIP-seq
MIRT2593836	hsa-miR-1184	CLIP-seq
MIRT2439478	hsa-miR-1202	CLIP-seq
MIRT2593837	hsa-miR-1204	CLIP-seq
MIRT2593838	hsa-miR-1243	CLIP-seq
MIRT2593839	hsa-miR-125a-3p	CLIP-seq
MIRT2593840	hsa-miR-1287	CLIP-seq
MIRT2593841	hsa-miR-129-3p	CLIP-seq
MIRT2593842	hsa-miR-1301	CLIP-seq
MIRT2295822	hsa-miR-1587	CLIP-seq
MIRT2439479	hsa-miR-1825	CLIP-seq
MIRT2593843	hsa-miR-2355-5p	CLIP-seq
MIRT2593844	hsa-miR-3064-3p	CLIP-seq
MIRT2593845	hsa-miR-31	CLIP-seq
MIRT2593846	hsa-miR-3120-3p	CLIP-seq
MIRT2593847	hsa-miR-3134	CLIP-seq
MIRT2593848	hsa-miR-3135b	CLIP-seq
MIRT2439480	hsa-miR-3187-3p	CLIP-seq
MIRT2593849	hsa-miR-3189-3p	CLIP-seq
MIRT2439481	hsa-miR-3194-5p	CLIP-seq
MIRT2593850	hsa-miR-323b-3p	CLIP-seq
MIRT2593851	hsa-miR-3654	CLIP-seq
MIRT2593852	hsa-miR-3663-3p	CLIP-seq
MIRT2593853	hsa-miR-3688-3p	CLIP-seq
MIRT2439482	hsa-miR-3972	CLIP-seq
MIRT2593854	hsa-miR-3976	CLIP-seq
MIRT2593855	hsa-miR-3978	CLIP-seq
MIRT2439483	hsa-miR-4435	CLIP-seq
MIRT2593856	hsa-miR-4437	CLIP-seq
MIRT2593857	hsa-miR-4461	CLIP-seq
MIRT2593858	hsa-miR-4534	CLIP-seq
MIRT2593859	hsa-miR-4638-3p	CLIP-seq
MIRT2439484	hsa-miR-4652-3p	CLIP-seq
MIRT2593860	hsa-miR-4660	CLIP-seq
MIRT2295823	hsa-miR-4674	CLIP-seq
MIRT2593861	hsa-miR-4691-3p	CLIP-seq
MIRT2439485	hsa-miR-4701-5p	CLIP-seq
MIRT2593862	hsa-miR-486-5p	CLIP-seq
MIRT2593863	hsa-miR-5047	CLIP-seq
MIRT2439486	hsa-miR-512-3p	CLIP-seq
MIRT2439487	hsa-miR-548s	CLIP-seq
MIRT2593864	hsa-miR-552	CLIP-seq
MIRT2439488	hsa-miR-588	CLIP-seq
MIRT2593865	hsa-miR-626	CLIP-seq
MIRT2295824	hsa-miR-635	CLIP-seq
MIRT2593866	hsa-miR-875-3p	CLIP-seq
MIRT2439489	hsa-miR-892a	CLIP-seq
MIRT2593836	hsa-miR-1184	CLIP-seq
MIRT2439478	hsa-miR-1202	CLIP-seq
MIRT2593837	hsa-miR-1204	CLIP-seq
MIRT2593838	hsa-miR-1243	CLIP-seq
MIRT2593840	hsa-miR-1287	CLIP-seq
MIRT2593841	hsa-miR-129-3p	CLIP-seq
MIRT2593842	hsa-miR-1301	CLIP-seq
MIRT2295822	hsa-miR-1587	CLIP-seq
MIRT2439479	hsa-miR-1825	CLIP-seq
MIRT2593843	hsa-miR-2355-5p	CLIP-seq
MIRT2593844	hsa-miR-3064-3p	CLIP-seq
MIRT2593845	hsa-miR-31	CLIP-seq
MIRT2593846	hsa-miR-3120-3p	CLIP-seq
MIRT2593847	hsa-miR-3134	CLIP-seq
MIRT2593848	hsa-miR-3135b	CLIP-seq
MIRT2439480	hsa-miR-3187-3p	CLIP-seq
MIRT2593849	hsa-miR-3189-3p	CLIP-seq
MIRT2439481	hsa-miR-3194-5p	CLIP-seq
MIRT2593850	hsa-miR-323b-3p	CLIP-seq
MIRT2593851	hsa-miR-3654	CLIP-seq
MIRT2593852	hsa-miR-3663-3p	CLIP-seq
MIRT2593853	hsa-miR-3688-3p	CLIP-seq
MIRT2439482	hsa-miR-3972	CLIP-seq
MIRT2593854	hsa-miR-3976	CLIP-seq
MIRT2593855	hsa-miR-3978	CLIP-seq
MIRT2439483	hsa-miR-4435	CLIP-seq
MIRT2593856	hsa-miR-4437	CLIP-seq
MIRT2593857	hsa-miR-4461	CLIP-seq
MIRT2593858	hsa-miR-4534	CLIP-seq
MIRT2593859	hsa-miR-4638-3p	CLIP-seq
MIRT2439484	hsa-miR-4652-3p	CLIP-seq
MIRT2593860	hsa-miR-4660	CLIP-seq
MIRT2295823	hsa-miR-4674	CLIP-seq
MIRT2593861	hsa-miR-4691-3p	CLIP-seq
MIRT2439485	hsa-miR-4701-5p	CLIP-seq
MIRT2593862	hsa-miR-486-5p	CLIP-seq
MIRT2593863	hsa-miR-5047	CLIP-seq
MIRT2439486	hsa-miR-512-3p	CLIP-seq
MIRT2439487	hsa-miR-548s	CLIP-seq
MIRT2439488	hsa-miR-588	CLIP-seq
MIRT2593865	hsa-miR-626	CLIP-seq
MIRT2295824	hsa-miR-635	CLIP-seq
MIRT2593866	hsa-miR-875-3p	CLIP-seq
MIRT2439489	hsa-miR-892a	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	11483512, 15713669, 28514442, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	NAS	12052837
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006506	Process	GPI anchor biosynthetic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016255	Process	Attachment of GPI anchor to protein	IBA
GO:0016255	Process	Attachment of GPI anchor to protein	IDA	28327575, 34576938, 35165458, 35551457, 36970549, 37684232
GO:0016255	Process	Attachment of GPI anchor to protein	IEA
GO:0016255	Process	Attachment of GPI anchor to protein	NAS
GO:0016255	Process	Attachment of GPI anchor to protein	TAS	11483512, 37684232
GO:0030182	Process	Neuron differentiation	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0034235	Function	GPI anchor binding	IDA	11483512
GO:0042765	Component	GPI-anchor transamidase complex	IBA
GO:0042765	Component	GPI-anchor transamidase complex	IDA	11483512, 12582175, 34576938, 35165458, 35551457, 37684232
GO:0042765	Component	GPI-anchor transamidase complex	IEA
GO:0042765	Component	GPI-anchor transamidase complex	IPI
GO:0042765	Component	GPI-anchor transamidase complex	TAS	15713669
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0180046	Process	GPI anchored protein biosynthesis	IDA	11483512, 12582175, 28327575, 34576938, 35165458, 35551457, 36970549, 37684232

MIM	HGNC	e!Ensembl
610272	14938	ENSG00000124155

Q969N2

Protein name

GPI-anchor transamidase component PIGT (Phosphatidylinositol-glycan biosynthesis class T protein)

Protein function

Component of the glycosylphosphatidylinositol-anchor (GPI-anchor) transamidase (GPI-T) complex that catalyzes the formation of the linkage between a proprotein and a GPI-anchor and participates in GPI anchored protein biosynthesis (PubMed:114835

PDB

7W72 , 7WLD , 8IMX , 8IMY

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04113	Gpi16	21 → 572	Gpi16 subunit, GPI transamidase component	Family

Sequence

MAAAMPLALLVLLLLGPGGWCLAEPPRDSLREELVITPLPSGDVAATFQFRTRWDSELQR
EGVSHYRLFPKALGQLISKYSLRELHLSFTQGFWRTRYWGPPFLQAPSGAELWVWFQDTV
TDVDKSWKELSNVLSGIFCASLNFIDSTNTVTPTASFKPLGLANDTDHYFLRYAVLPREV
VCTENLTPWKKLLPCSSKAGLSVLLKADRLFHTSYHSQAVHIRPVCRNARCTSISWELRQ
TLSVVFDAFITGQGKKDWSLFRMFSRTLTEPCPLASESRVYVDITTYNQDNETLEVHPPP
TTTYQDVILGTRKTYAIYDLLDTAMINNSRNLNIQLKWKRPPENEAPPVPFLHAQRYVSG
YGLQKGELSTLLYNTHPYRAFPVLLLDTVPWYLRLYVHTLTITSKGKENKPSYIHYQPAQ
DRLQPHLLEMLIQLPANSVTKVSIQFERALLKWTEYTPDPNHGFYVSPSVLSALVPSMVA
AKPVDWEESPLFNSLFPVSDGSNYFVRLYTEPLLVNLPTPDFSMPYNVICLTCTVVAVCY
GSFYNLLTRTFHIEEPRTGGLAKRLANLIRRARGVPPL

Sequence length

578

Interactions

View interactions

	KEGG		Reactome
	Glycosylphosphatidylinositol (GPI)-anchor biosynthesis Metabolic pathways		Attachment of GPI anchor to uPAR

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Global developmental delay	Likely pathogenic; Pathogenic	rs1277383877	RCV001003629	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant tumor of urinary bladder	Pathogenic	rs200790673	RCV005901749	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple congenital anomalies-hypotonia-seizures syndrome 3	Likely pathogenic; Pathogenic	rs749895437, rs1334035467, rs527236031, rs527236032, rs2515530148, rs756632799, rs768580788, rs201317502, rs771691280, rs771157170, rs1277383877, rs751861982, rs763009552, rs200790673, rs571714796, rs754517456, rs199968454, rs587777027 View all (3 more)	RCV002573351 RCV001930844 RCV000132728 RCV000132729 RCV002848440 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental delay	Pathogenic; Likely pathogenic	rs2145450794, rs1277383877	RCV002274434 RCV002274054	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PIGT-related disorder	Pathogenic; Likely pathogenic	rs201317502, rs771157170, rs751861982	RCV000509187 RCV000509376 RCV000709985	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs1277383877	RCV001003629	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (21)

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.
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLD PAROXYSMAL HEMOGLOBINURIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOGLOBINURIA, PAROXYSMAL	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
High myopia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY, SEIZURES, HYPOTONIA, OPHTHALMOLOGIC, SKELETAL ANOMALIES SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY-SEIZURES-HYPOPHOSPHATASIA-OPHTHALMIC-SKELETAL ANOMALIES SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal nocturnal hemoglobinuria 1	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Paroxysmal nocturnal hemoglobinuria 2	Benign; Uncertain significance; Conflicting classifications of pathogenicity; risk factor; Likely benign	ClinVar ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEVERE MYOPIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (59)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anemia, Hemolytic	Anemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	29100095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17047043		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18028549, 18487995, 22654114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	29100095	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cold paroxysmal hemoglobinuria	Paroxysmal cold hemoglobinuria	CTD_human_DG	25417052		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital Abnormalities	Congenital abnormalities	Pubtator	30813157, 30976099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Disorders of Glycosylation	Congenital disorder of glycosylation	Pubtator	25943031	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital malformation syndrome	Congenital Malformation Syndrome	BEFREE	24906948, 30813157, 30976099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatographic urticaria	Dermatographic urticaria	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	28327575, 29100095, 30976099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphism	Dysmorphism	BEFREE	24906948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	24906948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	25943031	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30976099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glycogen Storage Disease XIV	Glycogen storage disease	Pubtator	25943031, 30976099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	25943031	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobinuria Paroxysmal	Hemoglobinuria paroxysmal	Pubtator	30262533, 31430258, 31638602	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobinuria, Paroxysmal	Paroxysmal Hemoglobinuria	CTD_human_DG	25417052		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	BEFREE	24906948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17047043		★★★★★ ★☆☆☆☆ Found in Text Mining only
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	ORPHANET_DG	23636107		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	UNIPROT_DG	23636107		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	GENOMICS_ENGLAND_DG	23733340, 24906948, 28327575		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	BEFREE	24906948		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	CLINVAR_DG	24906948, 25943031		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myeloproliferative Disorders	Myeloproliferative disorder	Pubtator	31430258	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	BEFREE	23733340, 31430258, 31638602		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	CTD_human_DG	25417052		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Paroxysmal nocturnal hemoglobinuria	Paroxysmal nocturnal hemoglobinuria	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2	Paroxysmal nocturnal hemoglobinuria	GENOMICS_ENGLAND_DG	23733340		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2	Paroxysmal nocturnal hemoglobinuria	CLINVAR_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	30813157, 40141433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18028549	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Urticaria	Urticaria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Xeroderma pigmentosum variant type	Xeroderma pigmentosum	Pubtator	40141433	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PIGT (phosphatidylinositol glycan anchor biosynthesis class T)