CleftGeneDB-Search

Gene: PIGA

Basic information

Tag	Content
Uniprot ID	P37287; B4E0V2; Q16025; Q16250;
Entrez ID	5277
Genbank protein ID	AAH38236.1; AAD13929.1; BAG64564.1; AAD14160.1; BAA05966.1; CAB57276.1; BAA02019.1;
Genbank nucleotide ID	NM_002641.3; NM_020473.3; XM_017029581.1;
Ensembl protein ID	ENSP00000489528; ENSP00000442653; ENSP00000369820; ENSP00000489540;
Ensembl nucleotide ID	ENSG00000165195
Gene name	Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
Gene symbol	PIGA
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very early intermediate in GPI-anchor biosynthesis.
Sequence	MACRGGAGNG HRASATLSRV SPGSLYTCRT RTHNICMVSD FFYPNMGGVE SHIYQLSQCL 60 IERGHKVIIV THAYGNRKGI RYLTSGLKVY YLPLKVMYNQ STATTLFHSL PLLRYIFVRE 120 RVTIIHSHSS FSAMAHDALF HAKTMGLQTV FTDHSLFGFA DVSSVLTNKL LTVSLCDTNH 180 IICVSYTSKE NTVLRAALNP EIVSVIPNAV DPTDFTPDPF RRHDSITIVV VSRLVYRKGI 240 DLLSGIIPEL CQKYPDLNFI IGGEGPKRII LEEVRERYQL HDRVRLLGAL EHKDVRNVLV 300 QGHIFLNTSL TEAFCMAIVE AASCGLQVVS TRVGGIPEVL PENLIILCEP SVKSLCEGLE 360 KAIFQLKSGT LPAPENIHNI VKTFYTWRNV AERTEKVYDR VSVEAVLPMD KRLDRLISHC 420 GPVTGYIFAL LAVFNFLFLI FLRWMTPDSI IDVAIDATGP RGAWTNNYSH SKRGGENNEI 480 SETR 484

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PIGA	102187116	A0A452F3Q4		Capra hircus	Prediction	More>>
1:1 ortholog	PIGA	5277	P37287		Homo sapiens	Prediction	More>>
1:1 ortholog	Piga	18700	Q64323	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PIGA		A0A2I3TBL1		Pan troglodytes	Prediction	More>>
1:1 ortholog	PIGA		F1SQU5		Sus scrofa	Prediction	More>>
1:1 ortholog	PIGA	103351771	A0A5F9CR14		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Piga	363464	D4AAY7		Rattus norvegicus	Prediction	More>>
1:1 ortholog	piga	791759	B0S6Z8		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs755718762	p.Cys3Arg	missense variant	-	NC_000023.11:g.15331924A>G	1000Genomes,ExAC,gnomAD
rs1256797925	p.Gly8Arg	missense variant	-	NC_000023.11:g.15331909C>T	gnomAD
rs748902332	p.His11Arg	missense variant	-	NC_000023.11:g.15331899T>C	ExAC,gnomAD
rs201637489	p.Arg12Cys	missense variant	-	NC_000023.11:g.15331897G>A	TOPMed,gnomAD
rs1380833875	p.Arg12His	missense variant	-	NC_000023.11:g.15331896C>T	TOPMed
COSM4880836	p.Arg12His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331896C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala13Asp	missense variant	-	chrX:g.15331893G>T	NCI-TCGA
rs369608621	p.Ala15Thr	missense variant	-	NC_000023.11:g.15331888C>T	ESP,TOPMed,gnomAD
rs1373760754	p.Leu17Phe	missense variant	-	NC_000023.11:g.15331882G>A	gnomAD
rs769125619	p.Ser18Tyr	missense variant	-	NC_000023.11:g.15331878G>T	ExAC,TOPMed,gnomAD
rs769125619	p.Ser18Phe	missense variant	-	NC_000023.11:g.15331878G>A	ExAC,TOPMed,gnomAD
RCV000712538	p.Arg19Trp	missense variant	-	NC_000023.11:g.15331876G>A	ClinVar
rs1555945553	p.Arg19Gln	missense variant	-	NC_000023.11:g.15331875C>T	-
RCV000578232	p.Arg19Gln	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331875C>T	ClinVar
rs34422225	p.Arg19Trp	missense variant	Paroxysmal nocturnal hemoglobinuria 1 (PNH1)	NC_000023.11:g.15331876G>A	UniProt,dbSNP
VAR_015442	p.Arg19Trp	missense variant	Paroxysmal nocturnal hemoglobinuria 1 (PNH1)	NC_000023.11:g.15331876G>A	UniProt
rs34422225	p.Arg19Trp	missense variant	-	NC_000023.11:g.15331876G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000554820	p.Arg19Trp	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331876G>A	ClinVar
RCV000716220	p.Arg19Trp	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.15331876G>A	ClinVar
RCV000428596	p.Arg19Trp	missense variant	-	NC_000023.11:g.15331876G>A	ClinVar
RCV000413773	p.Ser21Ile	missense variant	-	NC_000023.11:g.15331869C>A	ClinVar
rs375401655	p.Ser21Gly	missense variant	-	NC_000023.11:g.15331870T>C	ESP,ExAC,TOPMed,gnomAD
rs1057518239	p.Ser21Ile	missense variant	-	NC_000023.11:g.15331869C>A	-
RCV000718278	p.Ser21Gly	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.15331870T>C	ClinVar
RCV000694821	p.Ser21Gly	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331870T>C	ClinVar
RCV000712539	p.Ser21Gly	missense variant	-	NC_000023.11:g.15331870T>C	ClinVar
rs1330690637	p.Pro22Ser	missense variant	-	NC_000023.11:g.15331867G>A	gnomAD
rs1470343850	p.Pro22Leu	missense variant	-	NC_000023.11:g.15331866G>A	gnomAD
RCV000224623	p.Ser24Ter	frameshift	-	NC_000023.11:g.15331864dup	ClinVar
rs140606572	p.Tyr26Asn	missense variant	-	NC_000023.11:g.15331855A>T	ESP,ExAC,TOPMed
COSM1466581	p.Tyr26Ter	frameshift	Variant assessed as Somatic; HIGH impact.	chrX:g.15331853G>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr26Cys	missense variant	-	chrX:g.15331854T>C	NCI-TCGA
RCV000119284	p.Tyr26Ter	frameshift	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331857dup	ClinVar
RCV000202879	p.Thr27Ala	missense variant	-	NC_000023.11:g.15331852T>C	ClinVar
rs864309579	p.Thr27Ala	missense variant	-	NC_000023.11:g.15331852T>C	-
rs747568374	p.Cys28Tyr	missense variant	-	NC_000023.11:g.15331848C>T	ExAC
rs1414426904	p.Arg29Gly	missense variant	-	NC_000023.11:g.15331846T>C	gnomAD
rs780532806	p.Arg31Cys	missense variant	-	NC_000023.11:g.15331840G>A	ExAC
rs758863767	p.Arg31His	missense variant	-	NC_000023.11:g.15331839C>T	ExAC,TOPMed,gnomAD
rs1473881207	p.Thr32Ile	missense variant	-	NC_000023.11:g.15331836G>A	TOPMed
RCV000190762	p.His33Arg	missense variant	Inborn genetic diseases	NC_000023.11:g.15331833T>C	ClinVar
rs797044924	p.His33Arg	missense variant	-	NC_000023.11:g.15331833T>C	-
rs1437373629	p.His33Tyr	missense variant	-	NC_000023.11:g.15331834G>A	gnomAD
rs765502766	p.Asn34Ser	missense variant	-	NC_000023.11:g.15331830T>C	ExAC,gnomAD
COSM1117848	p.Met37Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331821A>G	NCI-TCGA Cosmic
RCV000649037	p.Val38Ile	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331819C>T	ClinVar
rs1057523626	p.Val38Ala	missense variant	-	NC_000023.11:g.15331818A>G	-
RCV000419126	p.Val38Ala	missense variant	-	NC_000023.11:g.15331818A>G	ClinVar
rs1555945533	p.Val38Ile	missense variant	-	NC_000023.11:g.15331819C>T	-
VAR_015436	p.Asp40His	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
VAR_015437	p.Gly48Ala	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
VAR_015438	p.Gly48Asp	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
VAR_015439	p.Gly48Val	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
RCV000761517	p.Val49Met	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331786C>T	ClinVar
COSM1490678	p.Ser51Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331779C>T	NCI-TCGA Cosmic
rs1323673031	p.Tyr54Cys	missense variant	-	NC_000023.11:g.15331770T>C	gnomAD
RCV000010639	p.Gln55Ter	nonsense	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15331768G>A	ClinVar
rs199422233	p.Gln55Ter	stop gained	-	NC_000023.11:g.15331768G>A	-
NCI-TCGA novel	p.Leu56Phe	missense variant	-	chrX:g.15331765G>A	NCI-TCGA
rs1160987921	p.Ser57Cys	missense variant	-	NC_000023.11:g.15331761G>C	TOPMed
COSM6186036	p.Gln58His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331757C>A	NCI-TCGA Cosmic
rs759443446	p.Cys59Arg	missense variant	-	NC_000023.11:g.15331756A>G	ExAC,gnomAD
rs1006798135	p.Ile61Thr	missense variant	-	NC_000023.11:g.15331749A>G	TOPMed
rs774306554	p.Glu62Gly	missense variant	-	NC_000023.11:g.15331746T>C	ExAC,gnomAD
rs766109827	p.Arg63Ser	missense variant	-	NC_000023.11:g.15331742T>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly64Val	missense variant	-	chrX:g.15331740C>A	NCI-TCGA
COSM3844056	p.Ile69Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331726T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.His72Arg	missense variant	-	chrX:g.15331716T>C	NCI-TCGA
rs769478872	p.Ala73Thr	missense variant	-	NC_000023.11:g.15331714C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala73Val	missense variant	-	chrX:g.15331713G>A	NCI-TCGA
rs1301200002	p.Gly75Arg	missense variant	-	NC_000023.11:g.15331708C>G	gnomAD
RCV000119285	p.Arg77Leu	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331701C>A	ClinVar
rs587777398	p.Arg77Leu	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331701C>A	ExAC
rs587777398	p.Arg77Leu	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331701C>A	UniProt,dbSNP
VAR_071069	p.Arg77Leu	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331701C>A	UniProt
rs587777398	p.Arg77Gln	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331701C>T	ExAC
COSM1117847	p.Arg77Ter	stop gained	Variant assessed as Somatic; HIGH impact.	chrX:g.15331702G>A	NCI-TCGA Cosmic
rs776182358	p.Lys78Glu	missense variant	-	NC_000023.11:g.15331699T>C	ExAC,gnomAD
RCV000761571	p.Lys78Glu	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331699T>C	ClinVar
COSM1117846	p.Arg81His	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331689C>T	NCI-TCGA Cosmic
RCV000680065	p.Arg81Cys	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331690G>A	ClinVar
RCV000768039	p.Leu83Pro	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331683A>G	ClinVar
rs1335237092	p.Leu83Val	missense variant	-	NC_000023.11:g.15331684G>C	TOPMed
rs768321389	p.Thr84Ala	missense variant	-	NC_000023.11:g.15331681T>C	ExAC,gnomAD
RCV000010640	p.Thr84Ter	frameshift	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15331681_15331682insAC	ClinVar
NCI-TCGA novel	p.Leu87Ile	missense variant	-	chrX:g.15331672G>T	NCI-TCGA
rs747478493	p.Val89Ile	missense variant	-	NC_000023.11:g.15331666C>T	ExAC
rs1445335859	p.Tyr90Cys	missense variant	-	NC_000023.11:g.15331662T>C	TOPMed
rs587777400	p.Pro93Leu	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331653G>A	-
rs587777400	p.Pro93Leu	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331653G>A	UniProt,dbSNP
VAR_071070	p.Pro93Leu	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331653G>A	UniProt
RCV000119288	p.Pro93Leu	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331653G>A	ClinVar
rs758769627	p.Leu94Val	missense variant	-	NC_000023.11:g.15331651G>C	ExAC,gnomAD
rs146801580	p.Val96Leu	missense variant	-	NC_000023.11:g.15331645C>G	ESP,ExAC,TOPMed,gnomAD
rs779205409	p.Met97Ile	missense variant	-	NC_000023.11:g.15331640C>A	ExAC,gnomAD
rs779205409	p.Met97Ile	missense variant	-	NC_000023.11:g.15331640C>T	ExAC,gnomAD
RCV000010636	p.Tyr98Ter	nonsense	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15331637G>T	ClinVar
rs199422232	p.Tyr98Ter	stop gained	-	NC_000023.11:g.15331637G>T	-
RCV000437982	p.Tyr98Cys	missense variant	-	NC_000023.11:g.15331638T>C	ClinVar
rs1057523554	p.Tyr98Cys	missense variant	-	NC_000023.11:g.15331638T>C	-
rs1253408072	p.Asn99Ile	missense variant	-	NC_000023.11:g.15331635T>A	gnomAD
rs1241615240	p.Asn99His	missense variant	-	NC_000023.11:g.15331636T>G	TOPMed
rs757482806	p.Gln100His	missense variant	-	NC_000023.11:g.15331631C>A	ExAC,gnomAD
rs1307025325	p.Thr102Ala	missense variant	-	NC_000023.11:g.15331627T>C	TOPMed
rs754050083	p.Thr102Ile	missense variant	-	NC_000023.11:g.15331626G>A	ExAC,gnomAD
RCV000554054	p.Ala103Thr	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331624C>T	ClinVar
rs756212857	p.Ala103Val	missense variant	-	chrX:g.15331623G>A	NCI-TCGA
rs777795093	p.Ala103Thr	missense variant	-	NC_000023.11:g.15331624C>T	ExAC,TOPMed,gnomAD
RCV000523605	p.Ala103Thr	missense variant	-	NC_000023.11:g.15331624C>T	ClinVar
rs756212857	p.Ala103Val	missense variant	-	NC_000023.11:g.15331623G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr104Met	missense variant	-	chrX:g.15331620G>A	NCI-TCGA
rs751436894	p.Leu110Val	missense variant	-	NC_000023.11:g.15331603G>C	ExAC,gnomAD
RCV000692952	p.Arg114Ser	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331589C>A	ClinVar
RCV000530217	p.Ile116Met	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331583T>C	ClinVar
rs1555945484	p.Ile116Met	missense variant	-	NC_000023.11:g.15331583T>C	-
RCV000443275	p.Arg119Trp	missense variant	-	NC_000023.11:g.15331576G>A	ClinVar
rs587777396	p.Arg119Trp	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331576G>A	UniProt,dbSNP
VAR_071071	p.Arg119Trp	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331576G>A	UniProt
rs1555945480	p.Thr123Met	missense variant	-	NC_000023.11:g.15331563G>A	-
RCV000497905	p.Thr123Met	missense variant	-	NC_000023.11:g.15331563G>A	ClinVar
rs762862377	p.Ile124Val	missense variant	-	NC_000023.11:g.15331561T>C	ExAC,TOPMed,gnomAD
VAR_015440	p.His128Arg	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
rs1060499625	p.Ser132Cys	missense variant	-	NC_000023.11:g.15331536G>C	-
COSM1117844	p.Ser132Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331536G>T	NCI-TCGA Cosmic
RCV000445622	p.Ser132Cys	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331536G>C	ClinVar
COSM4840782	p.Ala135Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331528C>T	NCI-TCGA Cosmic
VAR_078230	p.Ala135Val	Missense	-	-	UniProt
RCV000731506	p.Ala142Thr	missense variant	-	NC_000023.11:g.15331507C>T	ClinVar
COSM1466578	p.Ala142Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331507C>T	NCI-TCGA Cosmic
rs764988988	p.Lys143Gln	missense variant	-	NC_000023.11:g.15331504T>G	ExAC,gnomAD
RCV000010641	p.Thr144Ter	frameshift	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15331500del	ClinVar
COSM4819305	p.Thr152Met	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331476G>A	NCI-TCGA Cosmic
RCV000010637	p.His154Ter	frameshift	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15331471_15331472insT	ClinVar
NCI-TCGA novel	p.His154IlePheSerTerUnk	frameshift	-	chrX:g.15331471_15331472insAAAT	NCI-TCGA
VAR_005531	p.Ser155Phe	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
RCV000697028	p.Asp161Tyr	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331450C>A	ClinVar
rs760266545	p.Val165Leu	missense variant	-	NC_000023.11:g.15331438C>A	ExAC,gnomAD
rs775206996	p.Thr167Ala	missense variant	-	NC_000023.11:g.15331432T>C	ExAC,gnomAD
rs746412962	p.Lys169Met	missense variant	-	NC_000023.11:g.15331425T>A	ExAC
rs779308669	p.Lys169Asn	missense variant	-	NC_000023.11:g.15331424C>G	ExAC,gnomAD
rs772695695	p.Lys169Glu	missense variant	-	NC_000023.11:g.15331426T>C	ExAC,gnomAD
rs375707235	p.Thr172Ala	missense variant	-	NC_000023.11:g.15331417T>C	ESP,TOPMed
rs752395232	p.Val173Leu	missense variant	-	NC_000023.11:g.15331414C>G	ExAC,TOPMed,gnomAD
rs752395232	p.Val173Met	missense variant	-	NC_000023.11:g.15331414C>T	ExAC,TOPMed,gnomAD
rs371466959	p.Cys176Arg	missense variant	-	NC_000023.11:g.15331405A>G	ESP,ExAC,gnomAD
rs371466959	p.Cys176Gly	missense variant	-	NC_000023.11:g.15331405A>C	ESP,ExAC,gnomAD
rs1487939839	p.Thr178Ala	missense variant	-	NC_000023.11:g.15331399T>C	TOPMed,gnomAD
COSM120034	p.Cys183Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331383C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser185Tyr	missense variant	-	chrX:g.15331377G>T	NCI-TCGA
NCI-TCGA novel	p.Tyr186Ter	stop gained	-	chrX:g.15331373A>T	NCI-TCGA
rs1224466602	p.Val193Ala	missense variant	-	NC_000023.11:g.15331353A>G	gnomAD
NCI-TCGA novel	p.Ala196Gly	missense variant	-	chrX:g.15331344G>C	NCI-TCGA
rs1064796260	p.Val205Ile	missense variant	-	NC_000023.11:g.15331318C>T	-
RCV000480917	p.Val205Ile	missense variant	-	NC_000023.11:g.15331318C>T	ClinVar
rs201119959	p.Ile206Phe	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331315T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201119959	p.Ile206Phe	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331315T>A	UniProt,dbSNP
VAR_071072	p.Ile206Phe	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331315T>A	UniProt
rs201119959	p.Ile206Val	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331315T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000119286	p.Ile206Phe	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15331315T>A	ClinVar
RCV000484035	p.Ile206Val	missense variant	-	NC_000023.11:g.15331315T>C	ClinVar
RCV000720329	p.Ile206Val	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.15331315T>C	ClinVar
NCI-TCGA novel	p.Pro207Ser	missense variant	-	chrX:g.15331312G>A	NCI-TCGA
rs1280193379	p.Thr213Ser	missense variant	-	NC_000023.11:g.15331293G>C	gnomAD
NCI-TCGA novel	p.Thr213Ile	missense variant	-	chrX:g.15331293G>A	NCI-TCGA
rs750365775	p.Phe220Ser	missense variant	-	NC_000023.11:g.15331272A>G	ExAC,gnomAD
rs761674703	p.Arg222Lys	missense variant	-	NC_000023.11:g.15331266C>T	TOPMed,gnomAD
rs761535527	p.Ser225Gly	missense variant	-	NC_000023.11:g.15331258T>C	ExAC,gnomAD
rs753475633	p.Ile228Val	missense variant	-	NC_000023.11:g.15331249T>C	ExAC,gnomAD
COSM1117840	p.Ile228Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15331248A>C	NCI-TCGA Cosmic
rs1462199347	p.Ser232Thr	missense variant	-	NC_000023.11:g.15331236C>G	gnomAD
rs1167922402	p.Val235Phe	missense variant	-	NC_000023.11:g.15331228C>A	TOPMed,gnomAD
VAR_015441	p.Gly239Arg	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
rs1182258622	p.Ile240Thr	missense variant	-	NC_000023.11:g.15326043A>G	gnomAD
COSM1117829	p.Asp241Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15326041C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser244Asn	missense variant	-	chrX:g.15326031C>T	NCI-TCGA
rs1303065033	p.Ile246Thr	missense variant	-	NC_000023.11:g.15326025A>G	TOPMed
rs757286803	p.Ile247Met	missense variant	-	NC_000023.11:g.15326021T>C	ExAC,TOPMed,gnomAD
rs1230367344	p.Glu249Asp	missense variant	-	NC_000023.11:g.15326015T>A	TOPMed
rs753672974	p.Leu250Val	missense variant	-	NC_000023.11:g.15326014G>C	ExAC,TOPMed,gnomAD
RCV000649038	p.Tyr254Cys	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15326001T>C	ClinVar
rs1279450118	p.Tyr254Cys	missense variant	-	NC_000023.11:g.15326001T>C	gnomAD
NCI-TCGA novel	p.Pro255Thr	missense variant	-	chrX:g.15325999G>T	NCI-TCGA
rs764031509	p.Asp256Asn	missense variant	-	NC_000023.11:g.15325996C>T	ExAC,gnomAD
rs1255714003	p.Ile260Val	missense variant	-	NC_000023.11:g.15325984T>C	gnomAD
NCI-TCGA novel	p.Ile260Val	missense variant	-	chrX:g.15325984T>C	NCI-TCGA
rs755799077	p.Glu264Lys	missense variant	-	NC_000023.11:g.15325972C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys267Thr	missense variant	-	chrX:g.15325962T>G	NCI-TCGA
COSM1117828	p.Arg268Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15325959C>A	NCI-TCGA Cosmic
rs1057524256	p.Arg275Trp	missense variant	-	NC_000023.11:g.15325939G>A	-
RCV000720177	p.Arg275Trp	missense variant	History of neurodevelopmental disorder	NC_000023.11:g.15325939G>A	ClinVar
COSM5910071	p.Arg275Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15325939G>A	NCI-TCGA Cosmic
RCV000429633	p.Arg275Trp	missense variant	-	NC_000023.11:g.15325939G>A	ClinVar
NCI-TCGA novel	p.Glu276Lys	missense variant	-	chrX:g.15325936C>T	NCI-TCGA
NCI-TCGA novel	p.His281Arg	missense variant	-	chrX:g.15325920T>C	NCI-TCGA
NCI-TCGA novel	p.Asp282Asn	missense variant	-	chrX:g.15325918C>T	NCI-TCGA
rs886166122	p.Val284Leu	missense variant	-	NC_000023.11:g.15325151C>A	TOPMed,gnomAD
RCV000694082	p.Arg285His	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15325147C>T	ClinVar
COSM3844051	p.His292Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15325127G>A	NCI-TCGA Cosmic
RCV000530991	p.Lys293Glu	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15325124T>C	ClinVar
rs202161781	p.Lys293Glu	missense variant	-	NC_000023.11:g.15325124T>C	ESP,ExAC,TOPMed,gnomAD
VAR_005532	p.Asn297Asp	Missense	Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]	-	UniProt
rs1297363297	p.His303Gln	missense variant	-	NC_000023.11:g.15325092A>C	gnomAD
rs139991272	p.His303Arg	missense variant	-	NC_000023.11:g.15325093T>C	ESP,ExAC,gnomAD
rs139991272	p.His303Pro	missense variant	-	NC_000023.11:g.15325093T>G	ESP,ExAC,gnomAD
rs1419267139	p.Ile304Val	missense variant	-	NC_000023.11:g.15325091T>C	gnomAD
rs201873136	p.Ala317Val	missense variant	-	NC_000023.11:g.15325051G>A	1000Genomes,ExAC,gnomAD
rs1353341156	p.Ile318Met	missense variant	-	NC_000023.11:g.15325047G>C	TOPMed
rs765961204	p.Val319Leu	missense variant	-	chrX:g.15325046C>A	NCI-TCGA,NCI-TCGA Cosmic
rs765961204	p.Val319Leu	missense variant	-	NC_000023.11:g.15325046C>A	ExAC,TOPMed,gnomAD
rs765961204	p.Val319Met	missense variant	-	NC_000023.11:g.15325046C>T	ExAC,TOPMed,gnomAD
rs1405328406	p.Leu340Phe	missense variant	-	NC_000023.11:g.15324835G>A	gnomAD
rs761007687	p.Leu344Arg	missense variant	-	NC_000023.11:g.15324822A>C	ExAC,gnomAD
rs761007687	p.Leu344Pro	missense variant	-	NC_000023.11:g.15324822A>G	ExAC,gnomAD
RCV000512946	p.Leu344Pro	missense variant	-	NC_000023.11:g.15324822A>G	ClinVar
NCI-TCGA novel	p.Leu344Phe	missense variant	-	chrX:g.15324823G>A	NCI-TCGA
VAR_071073	p.Leu344del	inframe_deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]	-	UniProt
rs377145946	p.Ile346Met	missense variant	-	NC_000023.11:g.15324815A>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu347Val	missense variant	-	chrX:g.15324814A>C	NCI-TCGA
NCI-TCGA novel	p.Cys348Phe	missense variant	-	chrX:g.15324810C>A	NCI-TCGA
rs1174537633	p.Glu349Gly	missense variant	-	NC_000023.11:g.15324807T>C	TOPMed
rs372966902	p.Pro350Ser	missense variant	-	NC_000023.11:g.15324805G>A	ESP,ExAC,gnomAD
RCV000528864	p.Pro350Ser	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15324805G>A	ClinVar
NCI-TCGA novel	p.Pro350Thr	missense variant	-	chrX:g.15324805G>T	NCI-TCGA
RCV000766085	p.Pro350Ser	missense variant	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15324805G>A	ClinVar
rs749191978	p.Lys353Arg	missense variant	-	NC_000023.11:g.15324795T>C	ExAC,gnomAD
COSM1117827	p.Lys353Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15324796T>G	NCI-TCGA Cosmic
rs1422087971	p.Leu355Met	missense variant	-	NC_000023.11:g.15324790A>T	gnomAD
VAR_078721	p.Leu355Ser	Missense	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) [MIM:300868]	-	UniProt
NCI-TCGA novel	p.Lys361Asn	missense variant	-	chrX:g.15324770C>A	NCI-TCGA
rs1193658978	p.Ala362Ser	missense variant	-	NC_000023.11:g.15324769C>A	gnomAD
NCI-TCGA novel	p.Ser368Ter	stop gained	-	chrX:g.15324750G>C	NCI-TCGA
RCV000010638	p.Pro372Ter	frameshift	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15324739del	ClinVar
rs1478543261	p.Asn376Asp	missense variant	-	NC_000023.11:g.15324727T>C	gnomAD
NCI-TCGA novel	p.Asn376His	missense variant	-	chrX:g.15324727T>G	NCI-TCGA
COSM4108040	p.Ile377Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15324724T>A	NCI-TCGA Cosmic
rs768749706	p.Ile380Thr	missense variant	-	chrX:g.15324714A>G	NCI-TCGA,NCI-TCGA Cosmic
rs768749706	p.Ile380Thr	missense variant	-	NC_000023.11:g.15324714A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile380Met	missense variant	-	chrX:g.15324713T>C	NCI-TCGA
rs747894664	p.Arg388Lys	missense variant	-	NC_000023.11:g.15324690C>T	ExAC,TOPMed,gnomAD
rs978567788	p.Arg393Lys	missense variant	-	NC_000023.11:g.15324675C>T	TOPMed
rs781095752	p.Arg393Gly	missense variant	-	NC_000023.11:g.15324676T>C	ExAC,gnomAD
rs1060499666	p.Glu395Lys	missense variant	-	NC_000023.11:g.15324670C>T	-
RCV000449490	p.Glu395Lys	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15324670C>T	ClinVar
rs772225061	p.Arg400Trp	missense variant	-	NC_000023.11:g.15321763G>A	ExAC,TOPMed,gnomAD
RCV000520216	p.Arg400Trp	missense variant	-	NC_000023.11:g.15321763G>A	ClinVar
rs759697480	p.Val401Leu	missense variant	-	NC_000023.11:g.15321760C>G	ExAC,gnomAD
rs759697480	p.Val401Leu	missense variant	-	NC_000023.11:g.15321760C>A	ExAC,gnomAD
rs794727790	p.Val401Glu	missense variant	-	NC_000023.11:g.15321759A>T	-
RCV000179409	p.Val401Glu	missense variant	-	NC_000023.11:g.15321759A>T	ClinVar
rs774644659	p.Ser402Leu	missense variant	-	chrX:g.15321756G>A	NCI-TCGA
rs192475811	p.Ser402Ala	missense variant	-	NC_000023.11:g.15321757A>C	1000Genomes,TOPMed
rs774644659	p.Ser402Leu	missense variant	-	NC_000023.11:g.15321756G>A	ExAC,gnomAD
rs1313883658	p.Glu404Lys	missense variant	-	NC_000023.11:g.15321751C>T	gnomAD
rs201361742	p.Ala405Val	missense variant	-	NC_000023.11:g.15321747G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000541463	p.Ala405Val	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15321747G>A	ClinVar
rs914087630	p.Pro408Leu	missense variant	-	NC_000023.11:g.15321738G>A	TOPMed
rs1314103115	p.Pro408Ser	missense variant	-	NC_000023.11:g.15321739G>A	TOPMed
rs1243499829	p.Met409Lys	missense variant	-	NC_000023.11:g.15321735A>T	TOPMed
rs780815350	p.Met409Ile	missense variant	-	NC_000023.11:g.15321734C>T	ExAC,gnomAD
rs387906726	p.Arg412Ter	stop gained	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15321727G>A	-
RCV000022881	p.Arg412Ter	nonsense	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15321727G>A	ClinVar
rs768524297	p.Asp414Asn	missense variant	-	NC_000023.11:g.15321721C>T	ExAC,TOPMed,gnomAD
rs768524297	p.Asp414His	missense variant	-	NC_000023.11:g.15321721C>G	ExAC,TOPMed,gnomAD
rs1449341363	p.Leu416Ile	missense variant	-	NC_000023.11:g.15321715G>T	gnomAD
rs746591138	p.His419Tyr	missense variant	-	NC_000023.11:g.15321706G>A	ExAC,TOPMed,gnomAD
rs771058274	p.Gly421Ser	missense variant	-	NC_000023.11:g.15321700C>T	ExAC,gnomAD
rs757835670	p.Ile427Val	missense variant	-	NC_000023.11:g.15321682T>C	ExAC,gnomAD
rs1361394188	p.Ala432Thr	missense variant	-	NC_000023.11:g.15321667C>T	gnomAD
rs139149663	p.Val433Ile	missense variant	-	NC_000023.11:g.15321664C>T	ESP,ExAC,TOPMed,gnomAD
rs749080220	p.Ile440Thr	missense variant	-	NC_000023.11:g.15321642A>G	ExAC,TOPMed,gnomAD
COSM1117808	p.Phe441Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15321639A>T	NCI-TCGA Cosmic
RCV000010642	p.Leu442Ter	frameshift	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15321638_15321639del	ClinVar
rs786200912	p.LeuArgTrpMetThrProAspSerIleIleAsp442LeuArgTrpMetThrProAspSerIleIleGluIleGluMetAspAspSerArgPheTyrHisTerUnk	stop gained	-	NC_000023.11:g.15321637_15321638insTTTCAATGATAGAATCTGGAGTCATCCATCTCAA	-
COSM6186045	p.Trp444Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	chrX:g.15321629C>G	NCI-TCGA Cosmic
rs754401169	p.Thr446Ile	missense variant	-	NC_000023.11:g.15321624G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser449Tyr	missense variant	-	chrX:g.15321615G>T	NCI-TCGA
RCV000010644	p.Asp452GluIleGluMetAspAspSerArgPheTyrHisTer	nonsense	Paroxysmal nocturnal hemoglobinuria 1	NC_000023.11:g.15321637_15321638insTTTCAATGATAGAATCTGGAGTCATCCATCTCAA	ClinVar
rs1212223898	p.Val453Ala	missense variant	-	NC_000023.11:g.15321603A>G	TOPMed
rs201783559	p.Asp456Asn	missense variant	-	NC_000023.11:g.15321595C>T	1000Genomes,ExAC,gnomAD
rs1440750558	p.Ala457Thr	missense variant	-	NC_000023.11:g.15321592C>T	TOPMed
rs1440750558	p.Ala457Pro	missense variant	-	NC_000023.11:g.15321592C>G	TOPMed
RCV000649036	p.Ala457Thr	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15321592C>T	ClinVar
rs1179561045	p.Thr458Ser	missense variant	-	NC_000023.11:g.15321588G>C	gnomAD
rs1181949227	p.Pro460Leu	missense variant	-	NC_000023.11:g.15321582G>A	gnomAD
rs752798208	p.Arg461Trp	missense variant	-	NC_000023.11:g.15321580G>A	ExAC,TOPMed,gnomAD
RCV000624780	p.Arg461Gln	missense variant	Inborn genetic diseases	NC_000023.11:g.15321579C>T	ClinVar
rs769061128	p.Arg461Gln	missense variant	-	NC_000023.11:g.15321579C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs774546648	p.Ala463Thr	missense variant	-	NC_000023.11:g.15321574C>T	ExAC,TOPMed,gnomAD
rs766602742	p.Trp464Ser	missense variant	-	NC_000023.11:g.15321570C>G	ExAC,gnomAD
rs761613346	p.Tyr468Cys	missense variant	-	NC_000023.11:g.15321558T>C	ExAC,TOPMed,gnomAD
rs773189052	p.Arg473Thr	missense variant	-	NC_000023.11:g.15321543C>G	TOPMed,gnomAD
rs773189052	p.Arg473Lys	missense variant	-	NC_000023.11:g.15321543C>T	TOPMed,gnomAD
rs142772459	p.Gly474Glu	missense variant	-	NC_000023.11:g.15321540C>T	ESP,ExAC,TOPMed,gnomAD
RCV000649040	p.Gly474Arg	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15321541C>T	ClinVar
rs61760986	p.Gly474Arg	missense variant	-	NC_000023.11:g.15321541C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142772459	p.Gly474Val	missense variant	-	NC_000023.11:g.15321540C>A	ESP,ExAC,TOPMed,gnomAD
rs1301584122	p.Gly475Asp	missense variant	-	NC_000023.11:g.15321537C>T	TOPMed,gnomAD
rs775330646	p.Glu476Gly	missense variant	-	NC_000023.11:g.15321534T>C	ExAC,gnomAD
rs771690457	p.Asn478Lys	missense variant	-	NC_000023.11:g.15321527A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile480Met	missense variant	-	chrX:g.15321521T>C	NCI-TCGA
rs745560847	p.Thr483Ala	missense variant	-	NC_000023.11:g.15321514T>C	ExAC,TOPMed,gnomAD
RCV000649039	p.Thr483Ala	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2)	NC_000023.11:g.15321514T>C	ClinVar
rs1362845230	p.Arg484Lys	missense variant	-	NC_000023.11:g.15321510C>T	gnomAD
rs1283056919	p.Ter485Trp	stop lost	-	NC_000023.11:g.15321507T>C	TOPMed
rs587777396	p.Arg119Trp	missense variant	Multiple congenital anomalies-hypotonia-seizures syndrome 2 (mcahs2)	NC_000023.11:g.15331576G>A	-

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0002874	Aplastic Anemia	disease	BEFREE;LHGDN
C0002878	Anemia, Hemolytic	disease	BEFREE;HPO
C0002879	Anemia, Hemolytic, Acquired	group	BEFREE
C0004364	Autoimmune Diseases	group	BEFREE
C0005956	Bone Marrow Diseases	group	BEFREE
C0009917	Contracture	group	HPO
C0009918	Contracture of joint	phenotype	HPO
C0010828	Cytopenia	phenotype	GENOMICS_ENGLAND
C0011053	Deafness	phenotype	HPO
C0011334	Dental caries	disease	BEFREE
C0013421	Dystonia	phenotype	BEFREE
C0014544	Epilepsy	disease	BEFREE
C0014553	Absence Epilepsy	disease	BEFREE
C0015672	Fatigue	phenotype	HPO
C0017566	Gingival Hyperplasia	phenotype	HPO
C0017567	Gingival Hypertrophy	disease	HPO
C0018772	Hearing Loss, Partial	phenotype	HPO
C0018817	Atrial Septal Defects	group	HPO
C0018939	Hematological Disease	group	BEFREE
C0019048	Hemoglobinuria	disease	BEFREE
C0019050	Hemoglobinuria, Paroxysmal	disease	CTD_human;LHGDN
C0020534	Orbital separation excessive	phenotype	HPO
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0023530	Leukopenia	disease	BEFREE
C0024790	Paroxysmal nocturnal hemoglobinuria	disease	BEFREE;CTD_human;HPO;ORPHANET
C0025990	Micrognathism	disease	HPO
C0026034	Microstomia	disease	HPO
C0026764	Multiple Myeloma	disease	BEFREE
C0027022	Myeloproliferative disease	group	BEFREE
C0027066	Myoclonus	phenotype	HPO
C0027947	Neutropenia	disease	BEFREE
C0030312	Pancytopenia	disease	BEFREE
C0032131	Plasmacytoma	disease	BEFREE
C0032927	Precancerous Conditions	group	BEFREE
C0033626	Protein Deficiency	disease	BEFREE
C0036857	Severe mental retardation (I.Q. 20-34)	disease	BEFREE
C0037769	West Syndrome	disease	ORPHANET
C0040034	Thrombocytopenia	phenotype	BEFREE
C0040038	Thromboembolism	phenotype	HPO
C0085307	Embolism and Thrombosis	disease	HPO
C0085584	Encephalopathies	group	BEFREE
C0086774	Cold paroxysmal hemoglobinuria	disease	CTD_human
C0151889	Hyperreflexia	phenotype	HPO
C0155320	Blindness, Cortical	disease	HPO
C0158995	Congenital anemia	disease	GENOMICS_ENGLAND
C0235574	Intravascular hemolysis	disease	BEFREE
C0235946	Cerebral atrophy	disease	HPO
C0240340	Microdontia (disorder)	disease	HPO
C0240635	Byzanthine arch palate	disease	HPO
C0263523	Micronychia (disorder)	phenotype	HPO
C0266435	Congenital hypoplasia of penis	disease	HPO
C0266470	Cerebellar Hypoplasia	disease	HPO
C0270855	Early myoclonic encephalopathy	disease	BEFREE
C0282577	Congenital Disorders of Glycosylation	group	GENOMICS_ENGLAND
C0333068	Flexion contracture	phenotype	HPO
C0333519	Caries (morphologic abnormality)	disease	BEFREE
C0339789	Congenital deafness	disease	HPO
C0344482	Hypoplasia of corpus callosum	disease	HPO
C0376480	Gingival Overgrowth	phenotype	HPO
C0398623	Thrombophilia	disease	BEFREE;HPO
C0423109	Upward slant of palpebral fissure	phenotype	HPO
C0431371	Absence of septum pellucidum	disease	HPO
C0456132	Large fontanelle	phenotype	HPO
C0521525	Short neck	phenotype	HPO
C0543888	Epileptic encephalopathy	disease	BEFREE;GENOMICS_ENGLAND;HPO
C0684276	Hypsarrhythmia	phenotype	HPO
C0684516	Benign bone neoplasm	group	BEFREE
C0746940	Nonverbal	phenotype	HPO
C0751778	Myoclonic Epilepsies, Progressive	disease	HPO
C0852336	Immune Hemolytic Anemia	disease	BEFREE
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1263988	Hemolytic disorder	disease	BEFREE
C1277241	Delayed myelination	phenotype	HPO
C1292778	Chronic myeloproliferative disorder	disease	BEFREE
C1384666	hearing impairment	phenotype	HPO
C1387532	Chronic hemolytic anemia	disease	BEFREE
C1533163	Disorder of cellular component of blood	group	BEFREE
C1704276	Spasmodic movement	phenotype	HPO
C1836542	Depressed nasal bridge	phenotype	HPO
C1836550	Loss of developmental milestones	phenotype	HPO
C1836830	Developmental regression	disease	HPO
C1837731	Overfolded helix	phenotype	HPO
C1839271	Birth length greater than 97th percentile	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1842364	Central hypotonia	phenotype	HPO
C1844813	Widely spaced teeth	phenotype	HPO
C1844947	Death in early childhood	phenotype	HPO
C1845847	Coarse facial features	phenotype	HPO
C1847514	Postnatal microcephaly	phenotype	HPO
C1848395	Large for gestational age	phenotype	HPO
C1849265	Overgrowth	phenotype	HPO
C1849341	Triangular mouth	phenotype	HPO
C1850493	Psychomotor regression, progressive	phenotype	HPO
C1850496	Neuronal loss in central nervous system	phenotype	HPO
C1850530	Flexion contractures of joints	phenotype	HPO
C1851731	Generalized overgrowth	phenotype	HPO
C1853205	Glycosylphosphatidylinositol deficiency	disease	BEFREE
C1853737	Prominent occiput	phenotype	HPO
C1853743	Muscular hypotonia of the trunk	phenotype	HPO
C1854302	Involuntary jerking movements	phenotype	HPO
C1854882	Absent speech	phenotype	HPO
C1855009	Psychomotor regression in infants	phenotype	HPO
C1855019	Psychomotor regression	phenotype	HPO
C1855331	Olfactory lobe agenesis	phenotype	HPO
C1855710	Bone marrow hypocellularity	phenotype	HPO
C1855996	Psychomotor regression beginning in infancy	phenotype	HPO
C1857121	Neurodevelopmental regression	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1858085	Malar flattening	phenotype	HPO
C1858430	Death in infancy	phenotype	HPO
C1859678	Mental deterioration in childhood	phenotype	HPO
C1866195	Downturned corners of mouth	phenotype	HPO
C1959632	Plasma Cell Neoplasm	group	BEFREE
C2676767	CD59 Deficiency	disease	BEFREE
C2717961	Thrombotic Microangiopathies	group	BEFREE
C2931788	Atypical Hemolytic Uremic Syndrome	disease	BEFREE
C2939461	Myeloid neoplasm	disease	BEFREE
C3150281	Fetal overgrowth	phenotype	HPO
C3275508	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C3463824	MYELODYSPLASTIC SYNDROME	group	BEFREE
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND
C3806670	PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1	disease	CLINVAR;UNIPROT
C3810365	Central visual impairment	disease	HPO
C3887898	Infantile Spasm	disease	HPO
C4021759	Generalized myoclonic seizures	disease	HPO
C4023528	Abnormality of skin morphology	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4024905	Abnormality of the pons	phenotype	HPO
C4048268	Cortical visual impairment	phenotype	HPO
C4072820	Large bregma sutures	phenotype	HPO
C4072821	Large, late-closing fontanelle	phenotype	HPO
C4072822	Wide bregma sutures	phenotype	HPO
C4072825	Thickened facial skin with coarse facial features	phenotype	HPO
C4083076	Increased head circumference	phenotype	HPO
C4255213	Increased size of skull	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280611	Decreased size of teeth	phenotype	HPO
C4280612	Decreased width of tooth	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4280652	Prominent back of the head	phenotype	HPO
C4280664	Big calvaria	phenotype	HPO
C4317123	Myoclonic Seizures	phenotype	HPO
C4476522	Oral soft tissue hyperplasia	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0008194	UDP-glycosyltransferase activity	TAS
GO:0017176	phosphatidylinositol N-acetylglucosaminyltransferase activity	TAS
GO:0017176	phosphatidylinositol N-acetylglucosaminyltransferase activity	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006506	GPI anchor biosynthetic process	TAS
GO:0006506	GPI anchor biosynthetic process	IBA
GO:0009893	positive regulation of metabolic process	TAS
GO:0016254	preassembly of GPI anchor in ER membrane	TAS
GO:1990830	cellular response to leukemia inhibitory factor	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000506	glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IDA
GO:0000506	glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex	IBA
GO:0005789	endoplasmic reticulum membrane	IDA
GO:0005789	endoplasmic reticulum membrane	TAS
GO:0016020	membrane	HDA
GO:0016021	integral component of membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162710	Synthesis of glycosylphosphatidylinositol (GPI)	TAS
R-HSA-163125	Post-translational modification: synthesis of GPI-anchored proteins	TAS
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-597592	Post-translational protein modification	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C003218	1,3-propane sultone	1,3-propane sultone results in increased mutagenesis of and results in decreased activity of PIGA protein	27931811
C003218	1,3-propane sultone	1,3-propane sultone results in increased mutagenesis of PIGA	22923490
D015073	2-Acetylaminofluorene	2-Acetylaminofluorene results in increased mutagenesis of PIGA	22923490
C511621	2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide inhibits the reaction [Particulate Matter results in increased expression of PIGA mRNA]	28655636
C511621	2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide inhibits the reaction [Vehicle Emissions results in increased expression of PIGA mRNA]	28655636
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of PIGA mRNA	18648102
C517041	(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II)	(4-amino-1,4-dihydro-3-(2-pyridyl)-5-thioxo-1,2,4-triazole)copper(II) results in increased expression of PIGA mRNA	19561079
D015112	4-Nitroquinoline-1-oxide	4-Nitroquinoline-1-oxide results in increased mutagenesis of PIGA gene	29362862
D015112	4-Nitroquinoline-1-oxide	4-Nitroquinoline-1-oxide results in increased mutagenesis of and results in decreased activity of PIGA protein	19965957
D015112	4-Nitroquinoline-1-oxide	[4-Nitroquinoline-1-oxide results in increased mutagenesis of and results in decreased activity of PIGA protein] which affects the localization of CD59 protein	19965957
D015112	4-Nitroquinoline-1-oxide	4-Nitroquinoline-1-oxide results in increased mutagenesis of PIGA	22923490
D015112	4-Nitroquinoline-1-oxide	4-Nitroquinoline-1-oxide results in increased mutagenesis of PIGA gene	20202993
D015112	4-Nitroquinoline-1-oxide	[4-Nitroquinoline-1-oxide results in increased mutagenesis of PIGA gene] which results in decreased expression of CD59 protein	20202993
C029728	4-phenylenediamine	4-phenylenediamine results in increased mutagenesis of PIGA gene	30439388
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of PIGA mRNA	20018196
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in increased mutagenesis of and results in decreased activity of PIGA protein	19965957
D015127	9,10-Dimethyl-1,2-benzanthracene	[9,10-Dimethyl-1,2-benzanthracene results in increased mutagenesis of and results in decreased activity of PIGA protein] which affects the localization of CD59 protein	19965957
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in increased mutagenesis of PIGA	22923490
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in increased mutagenesis of PIGA gene	20202993
D015127	9,10-Dimethyl-1,2-benzanthracene	[9,10-Dimethyl-1,2-benzanthracene results in increased mutagenesis of PIGA gene] which results in decreased expression of CD59 protein	20202993
C496492	abrine	abrine results in increased expression of PIGA mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of PIGA mRNA	21420995
D000082	Acetaminophen	Acetaminophen affects the expression of PIGA mRNA	17562736
D000111	Acetylcysteine	Acetylcysteine results in increased expression of PIGA mRNA	16084531
D000395	Air Pollutants, Occupational	Air Pollutants, Occupational results in increased expression of PIGA mRNA	23195993
D000638	Amiodarone	Amiodarone results in increased expression of PIGA mRNA	19774075
D000952	Antigens, Polyomavirus Transforming	Antigens, Polyomavirus Transforming results in increased expression of PIGA mRNA	26680231
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of PIGA mRNA	24449571
D034341	Aristolochic Acids	Aristolochic Acids results in increased mutagenesis of and results in decreased activity of PIGA protein	27931811
D001379	Azathioprine	Azathioprine affects the mutagenesis of PIGA	22923490
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased mutagenesis of PIGA gene	28461126
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased mutagenesis of PIGA gene	24105957; 28111842;
D001564	Benzo(a)pyrene	POR protein affects the reaction [Benzo(a)pyrene results in increased mutagenesis of PIGA gene]	28111842
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased mutagenesis of and results in decreased activity of PIGA protein	19965957; 27931811;
D001564	Benzo(a)pyrene	[Benzo(a)pyrene results in increased mutagenesis of and results in decreased activity of PIGA protein] which affects the localization of CD59 protein	19965957
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased mutagenesis of PIGA	22923490
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased mutagenesis of PIGA gene	20202993; 22052432;
D001564	Benzo(a)pyrene	[Benzo(a)pyrene results in increased mutagenesis of PIGA gene] which results in decreased expression of CD59 protein	20202993
C006780	bisphenol A	bisphenol A results in decreased expression of PIGA mRNA	28159858
C006780	bisphenol A	bisphenol A results in decreased expression of PIGA mRNA	25594700
C006780	bisphenol A	bisphenol A affects the expression of PIGA mRNA	25181051
C006780	bisphenol A	bisphenol A results in decreased expression of PIGA mRNA	30816183
D019256	Cadmium Chloride	Cadmium Chloride affects the expression of PIGA mRNA	22110744
D002220	Carbamazepine	Carbamazepine affects the expression of PIGA mRNA	25979313
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of PIGA mRNA	27339419
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of PIGA mRNA	31150632
D002699	Chlorambucil	Chlorambucil results in increased mutagenesis of and results in decreased activity of PIGA protein	27931811
D002699	Chlorambucil	Chlorambucil results in increased mutagenesis of PIGA	22923490
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in decreased expression of PIGA mRNA	23650126
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PIGA mRNA	20938992
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of PIGA gene	20938992
D002945	Cisplatin	[Cisplatin co-treated with Etoposide] results in increased mutagenesis of PIGA	21826740
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of PIGA mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased mutagenesis of and results in decreased activity of PIGA protein	27931811
D002945	Cisplatin	Cisplatin results in increased mutagenesis of PIGA gene	23677247
C018021	cobaltous chloride	cobaltous chloride results in increased expression of PIGA mRNA	19376846
D003300	Copper	[NSC 689534 binds to Copper] which results in increased expression of PIGA mRNA	20971185
D019327	Copper Sulfate	Copper Sulfate results in increased expression of PIGA mRNA	19549813
D003520	Cyclophosphamide	Cyclophosphamide results in increased mutagenesis of PIGA	22923490
D016572	Cyclosporine	Cyclosporine results in increased expression of PIGA mRNA	20106945; 27989131;
C000944	dicrotophos	dicrotophos results in decreased expression of PIGA mRNA	28302478
D004041	Dietary Fats	Dietary Fats affects the expression of PIGA mRNA	19680557
D004041	Dietary Fats	Dietary Fats results in decreased expression of PIGA mRNA	28031460
D004317	Doxorubicin	Doxorubicin results in decreased expression of PIGA mRNA	29803840
D013759	Dronabinol	Dronabinol results in increased expression of PIGA mRNA	21955143
D004726	Endosulfan	Endosulfan results in increased expression of PIGA mRNA	29391264
C045651	epigallocatechin gallate	epigallocatechin gallate results in increased expression of PIGA mRNA	16084531
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of PIGA mRNA	22079256
C472787	erucylphospho-N,N,N-trimethylpropylammonium	erucylphospho-N,N,N-trimethylpropylammonium results in increased expression of PIGA mRNA	29464035
D004958	Estradiol	Estradiol results in increased expression of PIGA mRNA	20106945
D000431	Ethanol	Ethanol results in decreased expression of PIGA mRNA	21955143
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of PIGA mRNA	17555576
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased mutagenesis of PIGA gene	29362862
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased mutagenesis of and results in decreased activity of PIGA protein	27931811
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased mutagenesis of PIGA	21729764
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of PIGA gene	24105957; 29362862;
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of and results in decreased activity of PIGA protein	19965957; 27931811;
D005038	Ethylnitrosourea	[Ethylnitrosourea results in increased mutagenesis of and results in decreased activity of PIGA protein] which affects the localization of CD59 protein	19965957
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of PIGA	21729764; 22730214; 22923490;
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of PIGA gene	20202993; 20857433; 22167886; 30439388;
D005038	Ethylnitrosourea	[Ethylnitrosourea results in increased mutagenesis of PIGA gene] which results in decreased expression of CD59 protein	20202993
D005047	Etoposide	[Cisplatin co-treated with Etoposide] results in increased mutagenesis of PIGA	21826740
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PIGA mRNA	20938992
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of PIGA gene	20938992
D005944	Glucosamine	Glucosamine results in decreased expression of PIGA mRNA	17178593
D005947	Glucose	Glucose results in decreased expression of PIGA mRNA	17178593
D006046	Gold	Gold results in decreased expression of PIGA mRNA	25523186
C002531	isopropylmethanesulfonate	isopropylmethanesulfonate results in increased mutagenesis of and results in decreased activity of PIGA protein	27931811
D007545	Isoproterenol	Isoproterenol results in increased expression of PIGA mRNA	21823215
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of PIGA mRNA	27392435
C544151	jinfukang	jinfukang results in decreased expression of PIGA mRNA	27392435
D019344	Lactic Acid	Lactic Acid results in increased expression of PIGA mRNA	30851411
D008558	Melphalan	Melphalan results in increased mutagenesis of and results in decreased activity of PIGA protein	27931811
D008558	Melphalan	Melphalan results in increased mutagenesis of PIGA	22923490
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PIGA mRNA	20938992
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of PIGA gene	20938992
D008767	Methylmercury Compounds	Methylmercury Compounds affects the expression of PIGA mRNA	21664453
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased mutagenesis of PIGA	22923490
D008770	Methylnitrosourea	Methylnitrosourea results in increased mutagenesis of and results in decreased activity of PIGA protein	19965957; 27931811;
D008770	Methylnitrosourea	[Methylnitrosourea results in increased mutagenesis of and results in decreased activity of PIGA protein] which affects the localization of CD59 protein	19965957
D008770	Methylnitrosourea	Methylnitrosourea results in increased mutagenesis of PIGA	22923490
D008770	Methylnitrosourea	Methylnitrosourea results in increased mutagenesis of PIGA gene	20202993
D008770	Methylnitrosourea	[Methylnitrosourea results in increased mutagenesis of PIGA gene] which results in decreased expression of CD59 protein	20202993
D009020	Morphine	Morphine results in decreased expression of PIGA mRNA	21955143
C568376	MT19c compound	MT19c compound results in increased expression of PIGA mRNA	21781307
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of PIGA mRNA	25620056
D009532	Nickel	Nickel results in increased expression of PIGA mRNA	23195993
D009538	Nicotine	Nicotine results in decreased expression of PIGA mRNA	21955143
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in increased expression of PIGA mRNA	20971185
D000073878	Palm Oil	Palm Oil affects the expression of PIGA mRNA	19680557
D052638	Particulate Matter	2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide inhibits the reaction [Particulate Matter results in increased expression of PIGA mRNA]	28655636
D052638	Particulate Matter	Particulate Matter results in increased expression of PIGA mRNA	28655636
D010938	Plant Oils	Plant Oils results in increased expression of PIGA mRNA	23370395
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in increased expression of PIGA mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of PIGA mRNA	22079256
C045950	propiconazole	propiconazole results in increased expression of PIGA mRNA	21278054
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of PIGA mRNA	24780913
C030984	pyrene	pyrene results in increased mutagenesis of PIGA	22923490
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in decreased expression of PIGA mRNA	21427059
C017947	sodium arsenite	sodium arsenite results in decreased expression of PIGA mRNA	28595984
D000077210	Sunitinib	Sunitinib results in increased expression of PIGA mRNA	31533062
C013698	tallow	tallow affects the expression of PIGA mRNA	19680557
D013629	Tamoxifen	Tamoxifen affects the expression of PIGA mRNA	17555576
D000077204	Temozolomide	Temozolomide results in increased mutagenesis of and results in decreased activity of PIGA protein	27931811
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PIGA mRNA	21632981
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PIGA mRNA	22298810
D013852	Thiotepa	Thiotepa results in increased mutagenesis of and results in decreased activity of PIGA protein	27931811
D013852	Thiotepa	Thiotepa results in increased mutagenesis of PIGA	22923490
C016151	tinuvin	tinuvin analog results in increased expression of PIGA mRNA	30315675
C011559	tributyltin	tributyltin results in increased expression of PIGA mRNA	31129395
C012589	trichostatin A	trichostatin A affects the expression of PIGA mRNA	28542535
D000077288	Troglitazone	Troglitazone results in increased expression of PIGA mRNA	28973697
D014520	Urethane	Urethane results in increased mutagenesis of and results in decreased activity of PIGA protein	27931811
D014635	Valproic Acid	Valproic Acid affects the expression of PIGA mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of PIGA mRNA	23179753; 27188386;
D014635	Valproic Acid	Valproic Acid results in increased expression of PIGA mRNA	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of PIGA mRNA	17292431
D014635	Valproic Acid	Valproic Acid results in decreased expression of PIGA mRNA	21427059
D001335	Vehicle Emissions	2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide inhibits the reaction [Vehicle Emissions results in increased expression of PIGA mRNA]	28655636
D001335	Vehicle Emissions	Vehicle Emissions results in increased expression of PIGA mRNA	28655636
C025643	vinclozolin	vinclozolin results in decreased expression of PIGA mRNA	22570695

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0225	Disease mutation
KW-0256	Endoplasmic reticulum
KW-0887	Epilepsy
KW-0325	Glycoprotein
KW-0328	Glycosyltransferase
KW-0337	GPI-anchor biosynthesis
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0808	Transferase
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR001296	Glyco_trans_1
IPR013234	PIGA_GPI_anchor_biosynthesis

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF00534	Glycos_transf_1
PF08288	PIGA

Gene: PIGA

Basic information

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction