CleftGeneDB-Search

Gene: GCH1

Basic information

Tag	Content
Uniprot ID	P30793; Q6FHY7; Q9Y4I8;
Entrez ID	2643
Genbank protein ID	AAB16861.1; AAB42186.1; CAA83213.1; AAB23166.1; AAH25415.1; CAB77391.1; CAG38788.1; EAW80647.1; AAB60633.1; AAD38866.1; AAB23165.1; CAB77392.1; AAB23164.1; AAD38868.1; CAA78908.1;
Genbank nucleotide ID	NM_000161.2; NM_001024070.1; NM_001024071.1; NM_001024024.1;
Ensembl protein ID	ENSP00000445246; ENSP00000477796; ENSP00000419045; ENSP00000378890; ENSP00000444011;
Ensembl nucleotide ID	ENSG00000131979
Gene name	GTP cyclohydrolase 1
Gene symbol	GCH1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26215833
Functional description	Positively regulates nitric oxide synthesis in umbilical vein endothelial cells (HUVECs). May be involved in dopamine synthesis. May modify pain sensitivity and persistence. Isoform GCH-1 is the functional enzyme, the potential function of the enzymatically inactive isoforms remains unknown.
Sequence	MEKGPVRAPA EKPRGARCSN GFPERDPPRP GPSRPAEKPP RPEAKSAQPA DGWKGERPRS 60 EEDNELNLPN LAAAYSSILS SLGENPQRQG LLKTPWRAAS AMQFFTKGYQ ETISDVLNDA 120 IFDEDHDEMV IVKDIDMFSM CEHHLVPFVG KVHIGYLPNK QVLGLSKLAR IVEIYSRRLQ 180 VQERLTKQIA VAITEALRPA GVGVVVEATH MCMVMRGVQK MNSKTVTSTM LGVFREDPKT 240 REEFLTLIRS

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 information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
1FB1

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Developmental stage	Species	Evidence	Details
1:1 ortholog	GCH1	286815	F1MZ14		Bos taurus	Prediction	More>>
1:1 ortholog	GCH1	609393	E2RI70		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	GCH1		A0A452F7E4		Capra hircus	Prediction	More>>
1:1 ortholog	GCH1	2643	P30793		Homo sapiens	Publication	More>>
1:1 ortholog	Gch1	14528	Q05915	E14.5	Mus musculus	Prediction	More>>
1:1 ortholog	GCH1		A0A2I3RQP8		Pan troglodytes	Prediction	More>>
1:1 ortholog	GCH1		A0A287BGL7		Sus scrofa	Prediction	More>>
1:1 ortholog	GCH1	100286831	G1SIY3		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Gch1	29244	P22288		Rattus norvegicus	Prediction	More>>
1:1 ortholog	gch1	100192219	E7FGQ8		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
GCH1	rs17128077	Single Nucleotide Polymorphism Selection and Genotyping	26215833

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000536548	p.Met1Leu	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902663T>A	ClinVar
RCV000009859	p.Met1Ile	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902661C>G	ClinVar
rs764013857	p.Gly4Arg	missense variant	-	NC_000014.9:g.54902654C>G	ExAC,gnomAD
RCV000518820	p.Pro5Ter	frameshift	-	NC_000014.9:g.54902647_54902653del	ClinVar
rs1206396500	p.Val6Glu	missense variant	-	NC_000014.9:g.54902647A>T	gnomAD
rs1167936240	p.Arg7Gly	missense variant	-	NC_000014.9:g.54902645G>C	gnomAD
rs1170513883	p.Arg7Pro	missense variant	-	NC_000014.9:g.54902644C>G	TOPMed
rs1167936240	p.Arg7Trp	missense variant	-	NC_000014.9:g.54902645G>A	gnomAD
rs529381971	p.Ala8Pro	missense variant	-	NC_000014.9:g.54902642C>G	1000Genomes,TOPMed,gnomAD
rs529381971	p.Ala8Thr	missense variant	-	NC_000014.9:g.54902642C>T	1000Genomes,TOPMed,gnomAD
rs529381971	p.Ala8Ser	missense variant	-	NC_000014.9:g.54902642C>A	1000Genomes,TOPMed,gnomAD
rs1262075886	p.Pro9Leu	missense variant	-	NC_000014.9:g.54902638G>A	gnomAD
rs946737110	p.Ala10Ser	missense variant	-	NC_000014.9:g.54902636C>A	TOPMed
rs1272621459	p.Glu11Ala	missense variant	-	NC_000014.9:g.54902632T>G	gnomAD
rs1487411316	p.Arg14Trp	missense variant	-	NC_000014.9:g.54902624G>A	TOPMed,gnomAD
rs1214036983	p.Gly15Ser	missense variant	-	NC_000014.9:g.54902621C>T	TOPMed,gnomAD
VAR_002632	p.Gly15Asp	Missense	-	-	UniProt
rs1299121897	p.Cys18Ser	missense variant	-	NC_000014.9:g.54902612A>T	TOPMed
rs1457270763	p.Ser19Ile	missense variant	-	NC_000014.9:g.54902608C>A	gnomAD
rs1342263570	p.Gly21Trp	missense variant	-	NC_000014.9:g.54902603C>A	TOPMed
rs1220614834	p.Phe22Val	missense variant	-	NC_000014.9:g.54902600A>C	gnomAD
rs41298432	p.Pro23Leu	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902596G>A	UniProt,dbSNP
VAR_002633	p.Pro23Leu	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902596G>A	UniProt
rs1308135163	p.Pro23Ala	missense variant	-	NC_000014.9:g.54902597G>C	gnomAD
rs41298432	p.Pro23Leu	missense variant	-	NC_000014.9:g.54902596G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000535892	p.Pro23Leu	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902596G>A	ClinVar
rs1444127928	p.Glu24Ter	stop gained	-	NC_000014.9:g.54902594C>A	TOPMed
rs759709001	p.Pro28Ser	missense variant	-	NC_000014.9:g.54902582G>A	ExAC,gnomAD
rs774568081	p.Pro28Leu	missense variant	-	NC_000014.9:g.54902581G>A	ExAC,TOPMed,gnomAD
rs1477733062	p.Pro30Arg	missense variant	-	NC_000014.9:g.54902575G>C	TOPMed
rs944665606	p.Pro30Ser	missense variant	-	NC_000014.9:g.54902576G>A	TOPMed,gnomAD
rs1463121244	p.Gly31Val	missense variant	-	NC_000014.9:g.54902572C>A	TOPMed,gnomAD
rs1463121244	p.Gly31Glu	missense variant	-	NC_000014.9:g.54902572C>T	TOPMed,gnomAD
rs1456164846	p.Pro32Ser	missense variant	-	NC_000014.9:g.54902570G>A	TOPMed
rs1373130817	p.Ser33Cys	missense variant	-	NC_000014.9:g.54902567T>A	gnomAD
rs1320254777	p.Ser33Arg	missense variant	-	NC_000014.9:g.54902565G>C	TOPMed
rs1431116951	p.Ala36Glu	missense variant	-	NC_000014.9:g.54902557G>T	gnomAD
rs1431116951	p.Ala36Val	missense variant	-	NC_000014.9:g.54902557G>A	gnomAD
rs1030068813	p.Ala36Ser	missense variant	-	NC_000014.9:g.54902558C>A	gnomAD
rs1281740862	p.Glu37Gly	missense variant	-	NC_000014.9:g.54902554T>C	gnomAD
NCI-TCGA novel	p.Glu37Asp	missense variant	-	NC_000014.9:g.54902553C>A	NCI-TCGA
rs770932357	p.Pro39Ser	missense variant	-	NC_000014.9:g.54902549G>A	ExAC,gnomAD
RCV000556657	p.Pro40Arg	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902545G>C	ClinVar
rs995999325	p.Pro40Arg	missense variant	-	NC_000014.9:g.54902545G>C	gnomAD
rs1481021061	p.Pro42Leu	missense variant	-	NC_000014.9:g.54902539G>A	gnomAD
rs1197458063	p.Pro42Ser	missense variant	-	NC_000014.9:g.54902540G>A	gnomAD
rs1255523585	p.Glu43Ter	stop gained	-	NC_000014.9:g.54902537C>A	gnomAD
RCV000678472	p.Glu43Ter	frameshift	Dystonia	NC_000014.9:g.54902540dup	ClinVar
rs1208054607	p.Ala44Thr	missense variant	-	NC_000014.9:g.54902534C>T	gnomAD
rs773925613	p.Ser46Gly	missense variant	-	NC_000014.9:g.54902528T>C	ExAC,gnomAD
RCV000009871	p.Gln48Ter	nonsense	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902522G>A	ClinVar
rs104894444	p.Gln48Lys	missense variant	-	NC_000014.9:g.54902522G>T	TOPMed
rs104894444	p.Gln48Ter	stop gained	-	NC_000014.9:g.54902522G>A	TOPMed
rs1330315044	p.Pro49Leu	missense variant	-	NC_000014.9:g.54902518G>A	gnomAD
rs573085618	p.Pro49Ala	missense variant	-	NC_000014.9:g.54902519G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs573085618	p.Pro49Ser	missense variant	-	NC_000014.9:g.54902519G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs755299126	p.Asp51Tyr	missense variant	-	NC_000014.9:g.54902513C>A	ExAC,gnomAD
rs745516526	p.Asp51Glu	missense variant	-	NC_000014.9:g.54902511G>T	ExAC,TOPMed,gnomAD
RCV000424438	p.Asp51Glu	missense variant	-	NC_000014.9:g.54902511G>T	ClinVar
rs375788167	p.Gly52Cys	missense variant	-	NC_000014.9:g.54902510C>A	ESP,ExAC,TOPMed,gnomAD
rs375788167	p.Gly52Ser	missense variant	-	NC_000014.9:g.54902510C>T	ESP,ExAC,TOPMed,gnomAD
RCV000334247	p.Trp53Ter	nonsense	-	NC_000014.9:g.54902505C>T	ClinVar
rs886041708	p.Trp53Ter	stop gained	-	NC_000014.9:g.54902505C>T	-
NCI-TCGA novel	p.Trp53Cys	missense variant	-	NC_000014.9:g.54902505C>G	NCI-TCGA
rs1464045587	p.Gly55Asp	missense variant	-	NC_000014.9:g.54902500C>T	gnomAD
rs1376965947	p.Glu56Gly	missense variant	-	NC_000014.9:g.54902497T>C	gnomAD
COSM433146	p.Glu56Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54902498C>T	NCI-TCGA Cosmic
rs756782285	p.Arg57Gln	missense variant	-	NC_000014.9:g.54902494C>T	ExAC,gnomAD
rs1438904628	p.Pro58Leu	missense variant	-	NC_000014.9:g.54902491G>A	gnomAD
rs753312849	p.Arg59Gly	missense variant	-	NC_000014.9:g.54902489G>C	ExAC,TOPMed,gnomAD
rs753312849	p.Arg59Cys	missense variant	-	NC_000014.9:g.54902489G>A	ExAC,TOPMed,gnomAD
rs756067922	p.Ser60Thr	missense variant	-	NC_000014.9:g.54902485C>G	ExAC,gnomAD
rs1162192311	p.Glu62Gly	missense variant	-	NC_000014.9:g.54902479T>C	gnomAD
rs752590798	p.Glu62Asp	missense variant	-	NC_000014.9:g.54902478C>A	ExAC,gnomAD
rs1404198001	p.Asp63Asn	missense variant	-	NC_000014.9:g.54902477C>T	gnomAD
RCV000634834	p.Asp63Ter	frameshift	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902467_54902478delinsT	ClinVar
rs1281386674	p.Glu65Gln	missense variant	-	NC_000014.9:g.54902471C>G	TOPMed,gnomAD
rs1042390728	p.Leu66Pro	missense variant	-	NC_000014.9:g.54902467A>G	gnomAD
rs1240134623	p.Asn67Thr	missense variant	-	NC_000014.9:g.54902464T>G	gnomAD
rs56127440	p.Pro69Arg	missense variant	-	NC_000014.9:g.54902458G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs56127440	p.Pro69Leu	missense variant	-	NC_000014.9:g.54902458G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000687434	p.Pro69Leu	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902458G>A	ClinVar
rs1356789844	p.Asn70Tyr	missense variant	-	NC_000014.9:g.54902456T>A	gnomAD
rs763168809	p.Asn70Lys	missense variant	-	NC_000014.9:g.54902454G>T	ExAC,gnomAD
rs763168809	p.Asn70Lys	missense variant	-	NC_000014.9:g.54902454G>C	ExAC,gnomAD
VAR_016888	p.Leu71Gln	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
rs1160103349	p.Ala72Pro	missense variant	-	NC_000014.9:g.54902450C>G	gnomAD
RCV000694754	p.Ala74Ter	frameshift	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902441_54902444del	ClinVar
VAR_016889	p.Ala74Val	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
VAR_072733	p.Tyr75Cys	Missense	-	-	UniProt
rs748666093	p.Ser77Cys	missense variant	-	NC_000014.9:g.54902434G>C	ExAC,TOPMed,gnomAD
rs777135030	p.Ile78Asn	missense variant	-	NC_000014.9:g.54902431A>T	ExAC,TOPMed,gnomAD
rs747393714	p.Ile78Met	missense variant	-	NC_000014.9:g.54902430G>C	ExAC,gnomAD
VAR_002634	p.Leu79Pro	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
rs748890014	p.Ser80Arg	missense variant	-	NC_000014.9:g.54902424G>T	ExAC,gnomAD
rs770547722	p.Ser80Asn	missense variant	-	NC_000014.9:g.54902425C>T	ExAC,TOPMed,gnomAD
VAR_016890	p.Gly83Ala	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
rs755556239	p.Glu84Gln	missense variant	-	NC_000014.9:g.54902414C>G	ExAC,TOPMed,gnomAD
rs1555362836	p.Pro86Arg	missense variant	-	NC_000014.9:g.54902407G>C	-
rs781177989	p.Pro86Thr	missense variant	-	NC_000014.9:g.54902408G>T	ExAC,gnomAD
RCV000634831	p.Pro86Arg	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902407G>C	ClinVar
RCV000009853	p.Arg88Trp	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902402G>A	ClinVar
rs104894433	p.Arg88Gly	missense variant	-	NC_000014.9:g.54902402G>C	ExAC,gnomAD
rs104894433	p.Arg88Trp	missense variant	-	NC_000014.9:g.54902402G>A	ExAC,gnomAD
rs104894433	p.Arg88Trp	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902402G>A	UniProt,dbSNP
VAR_002636	p.Arg88Trp	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902402G>A	UniProt
VAR_016891	p.Arg88_Gln89del	inframe_deletion	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
VAR_002635	p.Arg88Pro	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
rs1293402606	p.Gln89Lys	missense variant	-	NC_000014.9:g.54902399G>T	gnomAD
VAR_016892	p.Gly90Val	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
rs763294577	p.Leu92Ile	missense variant	-	NC_000014.9:g.54902390G>T	ExAC,TOPMed,gnomAD
RCV000626091	p.Leu92Ile	missense variant	6-pyruvoyl-tetrahydropterin synthase deficiency (HPABH4A)	NC_000014.9:g.54902390G>T	ClinVar
rs960988987	p.Lys93Arg	missense variant	-	NC_000014.9:g.54902386T>C	TOPMed,gnomAD
RCV000551452	p.Thr94Ter	frameshift	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902387dup	ClinVar
NCI-TCGA novel	p.Thr94Pro	missense variant	-	NC_000014.9:g.54902384T>G	NCI-TCGA
RCV000689484	p.Thr94Lys	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902383G>T	ClinVar
rs886042892	p.Pro95Leu	missense variant	-	NC_000014.9:g.54902380G>A	-
RCV000286942	p.Pro95Leu	missense variant	-	NC_000014.9:g.54902380G>A	ClinVar
rs1482120639	p.Trp96Ter	stop gained	-	NC_000014.9:g.54902377C>T	TOPMed
rs1181621238	p.Arg97Thr	missense variant	-	NC_000014.9:g.54902374C>G	TOPMed
VAR_072734	p.Ala98Val	Missense	-	-	UniProt
RCV000711752	p.Ala99Ser	missense variant	-	NC_000014.9:g.54902369C>A	ClinVar
rs527416949	p.Ser100Leu	missense variant	-	NC_000014.9:g.54902365G>A	TOPMed
RCV000481039	p.Ala101Thr	missense variant	-	NC_000014.9:g.54902363C>T	ClinVar
rs1064796560	p.Ala101Thr	missense variant	-	NC_000014.9:g.54902363C>T	TOPMed
COSM4051338	p.Ala101Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54902362G>A	NCI-TCGA Cosmic
VAR_002637	p.Met102Lys	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
VAR_016893	p.Met102Arg	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
rs1418414015	p.Phe104Leu	missense variant	-	NC_000014.9:g.54902354A>G	gnomAD
VAR_054112	p.Thr106Ile	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
RCV000009864	p.Gly108Asp	missense variant	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	NC_000014.9:g.54902341C>T	ClinVar
rs104894435	p.Gly108Asp	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54902341C>T	UniProt,dbSNP
VAR_016894	p.Gly108Asp	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54902341C>T	UniProt
RCV000634833	p.Gly108Asp	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54902341C>T	ClinVar
RCV000513209	p.Gln110Glu	missense variant	-	NC_000014.9:g.54902336G>C	ClinVar
rs777349671	p.Gln110Leu	missense variant	-	NC_000014.9:g.54902335T>A	ExAC,gnomAD
rs748944982	p.Gln110Glu	missense variant	-	NC_000014.9:g.54902336G>C	ExAC,TOPMed,gnomAD
rs199990434	p.Thr112Ala	missense variant	-	NC_000014.9:g.54902330T>C	ESP,ExAC,TOPMed,gnomAD
rs747691325	p.Thr112Ser	missense variant	-	NC_000014.9:g.54902329G>C	ExAC,gnomAD
rs535517364	p.Ile113Val	missense variant	-	NC_000014.9:g.54902327T>C	1000Genomes,gnomAD
rs1393095176	p.Asp115Asn	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902321C>T	UniProt,dbSNP
VAR_016895	p.Asp115Asn	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54902321C>T	UniProt
rs1393095176	p.Asp115Asn	missense variant	-	NC_000014.9:g.54902321C>T	TOPMed
RCV000624730	p.Asp115Asn	missense variant	Inborn genetic diseases	NC_000014.9:g.54902321C>T	ClinVar
rs1267072369	p.Asn118Asp	missense variant	-	NC_000014.9:g.54865428T>C	TOPMed
rs1221794990	p.Asp119Tyr	missense variant	-	NC_000014.9:g.54865425C>A	gnomAD
COSM1607752	p.Asp119Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54865425C>T	NCI-TCGA Cosmic
rs1447471890	p.Ile121Val	missense variant	-	NC_000014.9:g.54865419T>C	gnomAD
NCI-TCGA novel	p.Glu124Ter	stop gained	-	NC_000014.9:g.54865410C>A	NCI-TCGA
rs1427825866	p.His126Arg	missense variant	-	NC_000014.9:g.54865403T>C	TOPMed
COSM956318	p.Glu128Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54865396C>A	NCI-TCGA Cosmic
RCV000497630	p.Val132Ala	missense variant	-	NC_000014.9:g.54865385A>G	ClinVar
rs1359856164	p.Val132Met	missense variant	-	NC_000014.9:g.54865386C>T	gnomAD
rs1555360034	p.Val132Ala	missense variant	-	NC_000014.9:g.54865385A>G	-
RCV000009854	p.Asp134Val	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54865379T>A	ClinVar
rs1353623780	p.Asp134Asn	missense variant	-	NC_000014.9:g.54865380C>T	gnomAD
rs104894437	p.Asp134Val	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865379T>A	UniProt,dbSNP
VAR_002638	p.Asp134Val	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865379T>A	UniProt
rs104894437	p.Asp134Val	missense variant	-	NC_000014.9:g.54865379T>A	-
RCV000761877	p.Asp134Asn	missense variant	-	NC_000014.9:g.54865380C>T	ClinVar
RCV000009868	p.Ile135Lys	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54865376A>T	ClinVar
rs104894441	p.Ile135Lys	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865376A>T	UniProt,dbSNP
VAR_016896	p.Ile135Lys	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865376A>T	UniProt
rs104894441	p.Ile135Lys	missense variant	-	NC_000014.9:g.54865376A>T	-
NCI-TCGA novel	p.Ile135Thr	missense variant	-	NC_000014.9:g.54865376A>G	NCI-TCGA
VAR_072735	p.Ile135Thr	Missense	-	-	UniProt
rs1360081603	p.Met140Ile	missense variant	-	NC_000014.9:g.54865360C>T	TOPMed,gnomAD
VAR_016897	p.Cys141Arg	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
VAR_002639	p.Cys141Trp	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
rs764265181	p.His143Arg	missense variant	-	NC_000014.9:g.54865352T>C	ExAC,TOPMed,gnomAD
rs104894440	p.His144Pro	missense variant	-	NC_000014.9:g.54865349T>G	-
rs104894440	p.His144Pro	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865349T>G	UniProt,dbSNP
VAR_002640	p.His144Pro	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54865349T>G	UniProt
RCV000009860	p.His144Pro	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54865349T>G	ClinVar
rs767979398	p.Val146Leu	missense variant	-	NC_000014.9:g.54865344C>G	ExAC,gnomAD
rs767979398	p.Val146Ile	missense variant	-	NC_000014.9:g.54865344C>T	ExAC,gnomAD
rs767979398	p.Val146Phe	missense variant	-	NC_000014.9:g.54865344C>A	ExAC,gnomAD
rs759958696	p.Val149Ala	missense variant	-	NC_000014.9:g.54865334A>G	ExAC,gnomAD
rs756256944	p.Val152Ile	missense variant	-	NC_000014.9:g.54859736C>T	ExAC,TOPMed,gnomAD
VAR_002641	p.His153Pro	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
rs373220294	p.Ile154Val	missense variant	-	NC_000014.9:g.54859730T>C	gnomAD
RCV000693837	p.Ile154Met	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54859728A>C	ClinVar
NCI-TCGA novel	p.Ile154Ser	missense variant	-	NC_000014.9:g.54859729A>C	NCI-TCGA
NCI-TCGA novel	p.Leu157Arg	insertion	-	NC_000014.9:g.54859718_54859719insCCT	NCI-TCGA
rs1242519962	p.Gln161Lys	missense variant	-	NC_000014.9:g.54859709G>T	TOPMed,gnomAD
rs1242519962	p.Gln161Glu	missense variant	-	NC_000014.9:g.54859709G>C	TOPMed,gnomAD
rs1467095724	p.Leu163Val	missense variant	-	NC_000014.9:g.54859703G>C	gnomAD
VAR_016898	p.Leu163Arg	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
NCI-TCGA novel	p.Gly164Asp	missense variant	-	NC_000014.9:g.54859699C>T	NCI-TCGA
rs755485677	p.Leu165Phe	missense variant	-	NC_000014.9:g.54859697G>A	ExAC,gnomAD
rs1293754137	p.Leu165Pro	missense variant	-	NC_000014.9:g.54859696A>G	gnomAD
COSM1323480	p.Lys167Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54859690T>A	NCI-TCGA Cosmic
rs1216579821	p.Leu168Phe	missense variant	-	NC_000014.9:g.54859688G>A	gnomAD
rs1362858344	p.Ala169Val	missense variant	-	NC_000014.9:g.54859684G>A	TOPMed,gnomAD
RCV000707481	p.Val172Leu	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54847126C>A	ClinVar
rs1206517443	p.Ile174Met	missense variant	-	NC_000014.9:g.54847118G>C	TOPMed
rs781250171	p.Tyr175Phe	missense variant	-	NC_000014.9:g.54847116T>A	ExAC,TOPMed,gnomAD
VAR_016899	p.Ser176Thr	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
VAR_002642	p.Arg178Ser	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
RCV000699765	p.Gln180Arg	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54847101T>C	ClinVar
VAR_016900	p.Gln180Arg	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
NCI-TCGA novel	p.Gln182Ter	stop gained	-	NC_000014.9:g.54845850G>A	NCI-TCGA
COSM6076081	p.Glu183Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54845847C>G	NCI-TCGA Cosmic
RCV000009873	p.Arg184His	missense variant	GTP cyclohydrolase I deficiency (HPABH4B)	NC_000014.9:g.54845843C>T	ClinVar
rs104894445	p.Arg184His	missense variant	-	NC_000014.9:g.54845843C>T	-
rs104894445	p.Arg184His	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54845843C>T	UniProt,dbSNP
VAR_002643	p.Arg184His	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54845843C>T	UniProt
rs1204984727	p.Leu185Phe	missense variant	-	NC_000014.9:g.54845841G>A	gnomAD
VAR_002644	p.Thr186Lys	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
NCI-TCGA novel	p.Lys187Asn	missense variant	-	NC_000014.9:g.54845833T>G	NCI-TCGA
rs1482443512	p.Ile189Thr	missense variant	-	NC_000014.9:g.54845828A>G	TOPMed
rs1321591583	p.Ala190Ser	missense variant	-	NC_000014.9:g.54845826C>A	gnomAD
rs113247490	p.Val191Gly	missense variant	-	NC_000014.9:g.54845822A>C	gnomAD
rs762208304	p.Val191Ile	missense variant	-	NC_000014.9:g.54845823C>T	ExAC,TOPMed,gnomAD
rs762208304	p.Val191Ile	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54845823C>T	UniProt,dbSNP
VAR_016901	p.Val191Ile	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54845823C>T	UniProt
rs113247490	p.Val191Ala	missense variant	-	NC_000014.9:g.54845822A>G	gnomAD
rs1008663334	p.Thr194Met	missense variant	-	NC_000014.9:g.54845813G>A	TOPMed,gnomAD
rs1057524015	p.Glu195Asp	missense variant	-	NC_000014.9:g.54845809T>G	-
RCV000437896	p.Glu195Asp	missense variant	-	NC_000014.9:g.54845809T>G	ClinVar
RCV000009867	p.Ala196Ser	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845808C>A	ClinVar
rs104894436	p.Ala196Ser	missense variant	-	NC_000014.9:g.54845808C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala196Thr	missense variant	-	NC_000014.9:g.54845808C>T	NCI-TCGA
rs752447862	p.Arg198Gly	missense variant	-	NC_000014.9:g.54845802G>C	ExAC,TOPMed,gnomAD
rs201238926	p.Arg198Gln	missense variant	-	NC_000014.9:g.54845801C>T	ESP,ExAC,TOPMed,gnomAD
rs752447862	p.Arg198Trp	missense variant	-	NC_000014.9:g.54845802G>A	ExAC,TOPMed,gnomAD
COSM698345	p.Arg198Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54845801C>A	NCI-TCGA Cosmic
rs137852633	p.Pro199Ala	missense variant	-	NC_000014.9:g.54845799G>C	-
RCV000009875	p.Pro199Ala	missense variant	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	NC_000014.9:g.54845799G>C	ClinVar
VAR_016902	p.Pro199Leu	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
RCV000009856	p.Gly201Glu	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845792C>T	ClinVar
rs104894438	p.Gly201Glu	missense variant	-	NC_000014.9:g.54845792C>T	-
rs104894438	p.Gly201Glu	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54845792C>T	UniProt,dbSNP
VAR_002645	p.Gly201Glu	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54845792C>T	UniProt
RCV000255434	p.Gly203Ter	nonsense	-	NC_000014.9:g.54845787del	ClinVar
RCV000440945	p.Gly203Arg	missense variant	-	NC_000014.9:g.54845787C>T	ClinVar
RCV000811926	p.Gly203Arg	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845787C>T	ClinVar
rs988395114	p.Gly203Arg	missense variant	-	NC_000014.9:g.54845787C>T	-
RCV000148506	p.Val204Ile	missense variant	Dystonia, dopa-responsive	NC_000014.9:g.54845784C>T	ClinVar
RCV000819611	p.Val204Ile	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845784C>T	ClinVar
rs200891969	p.Val204Ile	missense variant	-	NC_000014.9:g.54845784C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1418922853	p.Val205Gly	missense variant	-	NC_000014.9:g.54845780A>C	gnomAD
RCV000696865	p.Val205Glu	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54845780A>T	ClinVar
RCV000711754	p.Val205Glu	missense variant	-	NC_000014.9:g.54845780A>T	ClinVar
rs1445453197	p.Val206Ile	missense variant	-	NC_000014.9:g.54845778C>T	gnomAD
rs773159175	p.Val206Ala	missense variant	-	NC_000014.9:g.54845777A>G	ExAC,gnomAD
rs765035547	p.Glu207Lys	missense variant	-	NC_000014.9:g.54845775C>T	ExAC,TOPMed,gnomAD
rs141634133	p.Thr209Ile	missense variant	-	NC_000014.9:g.54845768G>A	ESP,TOPMed,gnomAD
rs141634133	p.Thr209Arg	missense variant	-	NC_000014.9:g.54845768G>C	ESP,TOPMed,gnomAD
RCV000585040	p.Thr209Ile	missense variant	-	NC_000014.9:g.54845768G>A	ClinVar
rs104894443	p.Met211Ile	missense variant	-	NC_000014.9:g.54844137C>T	-
rs104894443	p.Met211Ile	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844137C>T	UniProt,dbSNP
VAR_002647	p.Met211Ile	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844137C>T	UniProt
RCV000009870	p.Met211Ile	missense variant	GTP cyclohydrolase I deficiency (HPABH4B)	NC_000014.9:g.54844137C>T	ClinVar
RCV000255238	p.Met211Ter	frameshift	-	NC_000014.9:g.54844138_54844139del	ClinVar
RCV000785876	p.Met211Thr	missense variant	GTP cyclohydrolase I deficiency (HPABH4B)	NC_000014.9:g.54844138A>G	ClinVar
VAR_016903	p.Met211Val	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
rs1348562494	p.Met213Val	missense variant	-	NC_000014.9:g.54844133T>C	TOPMed
rs1348562494	p.Met213Val	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54844133T>C	UniProt,dbSNP
VAR_016904	p.Met213Val	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54844133T>C	UniProt
rs41298440	p.Arg216Ter	stop gained	-	NC_000014.9:g.54844124G>A	gnomAD
NCI-TCGA novel	p.Arg216Gly	missense variant	-	NC_000014.9:g.54844124G>C	NCI-TCGA
rs1356427006	p.Val218Ile	missense variant	-	NC_000014.9:g.54844118C>T	TOPMed
rs1555358382	p.Gln219Ter	stop gained	-	NC_000014.9:g.54844115G>A	-
rs1371565843	p.Gln219His	missense variant	-	NC_000014.9:g.54844113C>G	gnomAD
RCV000626626	p.Gln219Ter	nonsense	-	NC_000014.9:g.54844115G>A	ClinVar
RCV000009863	p.Met221Thr	missense variant	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	NC_000014.9:g.54844108A>G	ClinVar
rs104894434	p.Met221Thr	missense variant	-	NC_000014.9:g.54844108A>G	ExAC,TOPMed,gnomAD
rs104894434	p.Met221Thr	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844108A>G	UniProt,dbSNP
VAR_016905	p.Met221Thr	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844108A>G	UniProt
rs773232145	p.Asn222Lys	missense variant	-	NC_000014.9:g.54844104G>C	ExAC,TOPMed,gnomAD
rs1398975958	p.Ser223Thr	missense variant	-	NC_000014.9:g.54844102C>G	gnomAD
rs41298442	p.Lys224Thr	missense variant	-	NC_000014.9:g.54844099T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000009865	p.Lys224Arg	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54844099T>C	ClinVar
rs41298442	p.Lys224Arg	missense variant	-	NC_000014.9:g.54844099T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs41298442	p.Lys224Arg	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844099T>C	UniProt,dbSNP
VAR_002648	p.Lys224Arg	missense variant	Hyperphenylalaninemia, BH4-deficient, B (HPABH4B)	NC_000014.9:g.54844099T>C	UniProt
RCV000009866	p.Lys224Arg	missense variant	Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	NC_000014.9:g.54844099T>C	ClinVar
rs776426317	p.Val226Glu	missense variant	-	NC_000014.9:g.54844093A>T	ExAC,gnomAD
NCI-TCGA novel	p.Val226Met	missense variant	-	NC_000014.9:g.54844094C>T	NCI-TCGA
rs1195837853	p.Ser228Gly	missense variant	-	NC_000014.9:g.54844088T>C	gnomAD
rs1311873158	p.Met230Leu	missense variant	-	NC_000014.9:g.54844082T>G	gnomAD
COSM6076082	p.Leu231Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54844079A>T	NCI-TCGA Cosmic
VAR_002649	p.Phe234Ser	Missense	Dystonia, dopa-responsive (DRD) [MIM:128230]	-	UniProt
rs1555358380	p.Arg235Gln	missense variant	-	NC_000014.9:g.54844066C>T	-
NCI-TCGA novel	p.Arg235Leu	missense variant	-	NC_000014.9:g.54844066C>A	NCI-TCGA
RCV000626048	p.Arg235Gln	missense variant	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54844066C>T	ClinVar
rs1232746643	p.Thr240Ser	missense variant	-	NC_000014.9:g.54844052T>A	gnomAD
rs775733967	p.Arg241Gln	missense variant	-	NC_000014.9:g.54844048C>T	ExAC,gnomAD
rs1375209791	p.Arg241Trp	missense variant	-	NC_000014.9:g.54844049G>A	gnomAD
rs1296731359	p.Glu242Lys	missense variant	-	NC_000014.9:g.54844046C>T	gnomAD
rs772093408	p.Glu243Lys	missense variant	-	NC_000014.9:g.54844043C>T	ExAC
rs989328098	p.Thr246Ile	missense variant	-	NC_000014.9:g.54844033G>A	TOPMed,gnomAD
COSM3793736	p.Leu247Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.54844031G>A	NCI-TCGA Cosmic
RCV000518763	p.Arg249Ser	missense variant	-	NC_000014.9:g.54844023C>G	ClinVar
rs104894442	p.Arg249Ser	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54844023C>G	UniProt,dbSNP
VAR_016907	p.Arg249Ser	missense variant	Dystonia, dopa-responsive (DRD)	NC_000014.9:g.54844023C>G	UniProt
rs104894442	p.Arg249Ser	missense variant	-	NC_000014.9:g.54844023C>G	gnomAD
rs1468205954	p.Arg249Lys	missense variant	-	NC_000014.9:g.54844024C>T	TOPMed
RCV000517024	p.Ser250Cys	missense variant	-	NC_000014.9:g.54844022T>A	ClinVar
rs748132792	p.Ser250Cys	missense variant	-	NC_000014.9:g.54844022T>A	gnomAD
NCI-TCGA novel	p.Ser250Ile	missense variant	-	NC_000014.9:g.54844021C>A	NCI-TCGA
RCV000550200	p.Ter251Cys	stop lost	Dystonia 5, Dopa-responsive type (DRD)	NC_000014.9:g.54844017T>G	ClinVar
RCV000517972	p.Ter251Ser	stop lost	-	NC_000014.9:g.54844018C>G	ClinVar
rs1555358379	p.Ter251Cys	stop lost	-	NC_000014.9:g.54844017T>G	-
rs201255606	p.Ter251Ser	stop lost	-	NC_000014.9:g.54844018C>G	1000Genomes
rs104894435	p.Gly108Asp	missense variant	-	NC_000014.9:g.54902341C>T	-

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0002895	Anemia, Sickle Cell	disease	BEFREE
C0003467	Anxiety	disease	HPO
C0003850	Arteriosclerosis	disease	BEFREE
C0003864	Arthritis	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0005586	Bipolar Disorder	disease	BEFREE;LHGDN;PSYGENET
C0006012	Borderline Personality Disorder	disease	BEFREE
C0006111	Brain Diseases	group	BEFREE
C0006287	Bronchopulmonary Dysplasia	disease	BEFREE
C0007114	Malignant neoplasm of skin	disease	BEFREE
C0007193	Cardiomyopathy, Dilated	group	BEFREE
C0007222	Cardiovascular Diseases	group	BEFREE
C0007398	Catatonia	disease	BEFREE
C0007789	Cerebral Palsy	disease	BEFREE
C0009081	Congenital clubfoot	disease	HPO
C0009375	Colonic Neoplasms	group	BEFREE
C0010054	Coronary Arteriosclerosis	disease	BEFREE
C0010068	Coronary heart disease	disease	BEFREE
C0011053	Deafness	phenotype	HPO
C0011168	Deglutition Disorders	group	HPO
C0011570	Mental Depression	disease	BEFREE
C0011581	Depressive disorder	disease	BEFREE;HPO
C0011603	Dermatitis	disease	BEFREE
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0013132	Drooling	phenotype	HPO
C0013384	Dyskinetic syndrome	disease	BEFREE
C0013386	Dyskinesia, Drug-Induced	disease	CTD_human
C0013421	Dystonia	phenotype	BEFREE;CTD_human;HPO;LHGDN
C0013423	Dystonia Musculorum Deformans	disease	BEFREE
C0014544	Epilepsy	disease	HPO
C0015371	Extrapyramidal Disorders	group	BEFREE
C0015393	Eye Abnormalities	group	BEFREE
C0015672	Fatigue	phenotype	HPO
C0015674	Chronic Fatigue Syndrome	disease	BEFREE
C0016053	Fibromyalgia	disease	BEFREE
C0018772	Hearing Loss, Partial	phenotype	HPO
C0020456	Hyperglycemia	disease	BEFREE
C0020538	Hypertensive disease	group	BEFREE;CTD_human
C0021368	Inflammation	phenotype	LHGDN
C0023380	Lethargy	phenotype	HPO
C0026650	Movement Disorders	group	BEFREE
C0026837	Muscle Rigidity	phenotype	CTD_human;HPO
C0026858	Musculoskeletal Pain	phenotype	CTD_human
C0027066	Myoclonus	phenotype	BEFREE
C0027765	nervous system disorder	group	BEFREE
C0027794	Neural Tube Defects	group	BEFREE
C0027796	Neuralgia	phenotype	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0027849	Neuroleptic Malignant Syndrome	disease	BEFREE
C0030193	Pain	phenotype	BEFREE;CTD_human
C0030201	Pain, Postoperative	phenotype	BEFREE
C0030567	Parkinson Disease	disease	BEFREE;GENOMICS_ENGLAND;GWASCAT;LHGDN
C0031485	Phenylketonurias	group	BEFREE
C0033975	Psychotic Disorders	group	BEFREE;PSYGENET
C0034935	Babinski Reflex	phenotype	HPO
C0035258	Restless Legs Syndrome	disease	BEFREE
C0035305	Retinal Detachment	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0036572	Seizures	phenotype	HPO
C0037036	Sialorrhea	disease	HPO
C0037317	Sleep disturbances	group	HPO
C0037763	Spasm	phenotype	HPO
C0037772	Spastic Paraplegia	disease	BEFREE
C0037932	Curvature of spine	phenotype	HPO
C0040485	Torticollis	phenotype	HPO
C0040517	Gilles de la Tourette syndrome	disease	BEFREE
C0040822	Tremor	phenotype	BEFREE;HPO
C0041408	Turner Syndrome	disease	BEFREE
C0041696	Unipolar Depression	disease	BEFREE;PSYGENET
C0042373	Vascular Diseases	group	BEFREE
C0085583	Choreoathetosis	disease	HPO
C0085584	Encephalopathies	group	BEFREE
C0086439	Hypokinesia	phenotype	CTD_human
C0149521	Pancreatitis, Chronic	disease	BEFREE
C0149931	Migraine Disorders	group	BEFREE
C0150055	Chronic pain	phenotype	BEFREE
C0151313	Sensory neuropathy	disease	BEFREE
C0151564	Cogwheel Rigidity	phenotype	CTD_human
C0151744	Myocardial Ischemia	disease	CTD_human
C0151889	Hyperreflexia	phenotype	HPO
C0152116	Spasmodic torticollis	phenotype	HPO
C0154676	Organic writer's cramp	disease	HPO
C0162429	Malnutrition	disease	BEFREE
C0162835	Hypopigmentation disorder	group	BEFREE
C0202202	Protein measurement	group	GWASDB
C0205682	Waist-Hip Ratio	phenotype	GWASDB
C0220810	Congenital defects	group	BEFREE
C0221727	Pain in esophagus (finding)	phenotype	BEFREE
C0231519	Gegenhalten	phenotype	CTD_human
C0233565	Bradykinesia	phenotype	CTD_human
C0233608	Catatonic Rigidity	phenotype	CTD_human
C0234230	Pain, Burning	phenotype	CTD_human
C0234238	Ache	phenotype	CTD_human
C0234245	Visceral Pain	phenotype	BEFREE
C0234252	Mechanical pain	phenotype	BEFREE
C0234254	Radiating pain	phenotype	CTD_human
C0234378	Static Tremor	phenotype	HPO
C0234967	Choreoathetoid movements	phenotype	HPO
C0235031	Neurologic Symptoms	group	BEFREE
C0239325	Extensor Rigidity	phenotype	CTD_human
C0241397	Triphalangeal thumb	disease	BEFREE
C0242422	Parkinsonian Disorders	group	BEFREE;HPO
C0267937	Acute recurrent pancreatitis	disease	BEFREE
C0268464	Transient hyperphenylalaninemia	disease	HPO
C0268465	Phenylketonuria II	disease	BEFREE
C0268467	Hyperphenylalaninemia, BH4-Deficient, B	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C0268468	Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency	disease	BEFREE
C0269084	Vulvar Vestibulitis	disease	BEFREE
C0277799	Intermittent fever	phenotype	HPO
C0277821	Extrapyramidal Rigidity	phenotype	CTD_human
C0339789	Congenital deafness	disease	HPO
C0349204	Nonorganic psychosis	disease	BEFREE;PSYGENET
C0392885	High density lipoprotein measurement	phenotype	GWASDB
C0393584	Benign Hereditary Chorea	disease	BEFREE
C0393588	Dystonia, Paroxysmal	phenotype	CTD_human
C0393593	Dystonia Disorders	group	BEFREE
C0393610	Dystonia, Diurnal	phenotype	BEFREE;CTD_human
C0424295	Hyperactive behavior	phenotype	HPO
C0458257	Pain, Splitting	phenotype	CTD_human
C0458259	Pain, Crushing	phenotype	CTD_human
C0474368	Labor Pain	phenotype	BEFREE
C0497202	Abnormal ocular motility	phenotype	HPO
C0520947	Clumsiness - motor delay	disease	BEFREE
C0525045	Mood Disorders	group	BEFREE;PSYGENET
C0543888	Epileptic encephalopathy	disease	GENOMICS_ENGLAND
C0557874	Global developmental delay	disease	HPO
C0563625	Agnosia for Pain	disease	BEFREE
C0575157	Deformity of spine	phenotype	BEFREE
C0596240	Cancer Pain	phenotype	BEFREE
C0686347	Tardive Dyskinesia	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0700208	Acquired scoliosis	phenotype	HPO
C0728829	Congenital pes cavus	disease	HPO
C0743332	Focal Dystonia	disease	BEFREE
C0750403	Proximal weakness	phenotype	BEFREE
C0751088	Dyskinesia, Medication-Induced	disease	CTD_human
C0751093	Dystonia, Limb	phenotype	BEFREE;CTD_human;HPO
C0751407	Pain, Migratory	phenotype	CTD_human
C0751408	Suffering, Physical	phenotype	CTD_human
C0751435	Hyperphenylalaninaemia	disease	BEFREE;HPO
C0751436	Hyperphenylalaninemia, Non-Phenylketonuric	disease	BEFREE
C0751701	Hypokinesia, Antiorthostatic	phenotype	CTD_human
C0751837	Gait Ataxia	phenotype	HPO
C0752105	Parkinsonism, Juvenile	disease	BEFREE
C0752202	Childhood Onset Dystonias	disease	BEFREE
C0752205	Dystonia, Secondary	disease	BEFREE
C0752207	Familial Dystonia	disease	BEFREE
C0796074	MOHR-TRANEBJAERG SYNDROME	disease	BEFREE
C0856169	Endothelial dysfunction	phenotype	BEFREE
C0878676	6-pyruvoyl-tetrahydropterin synthase deficiency	disease	CLINVAR
C0948008	Ischemic stroke	disease	BEFREE
C0949445	Cervical Dystonia	phenotype	BEFREE;HPO
C1263855	Lumbar radiculopathy	disease	BEFREE
C1269683	Major Depressive Disorder	disease	BEFREE;PSYGENET
C1320474	Nuchal Rigidity	phenotype	CTD_human
C1384666	hearing impairment	phenotype	HPO
C1414216	Dystonia 6, torsion (disorder)	disease	BEFREE
C1449563	Cardiomyopathy, Familial Idiopathic	disease	BEFREE
C1504405	Pyramidal tract dysfunction	disease	BEFREE
C1834570	Myoclonic dystonia	disease	BEFREE
C1836696	Lower limb hyperreflexia	phenotype	HPO
C1837352	Childhood onset	phenotype	HPO
C1838391	Limb hypertonia	phenotype	HPO
C1839630	Severe muscular hypotonia	phenotype	HPO
C1842534	DYSTONIA 18 (disorder)	disease	BEFREE
C1846149	Intellectual disability, progressive	phenotype	HPO
C1846868	Parkinsonism with favorable response to dopaminergic medication	phenotype	HPO
C1851920	Dopa-Responsive Dystonia	disease	BEFREE;CLINVAR;CTD_human;ORPHANET;UNIPROT
C1851945	DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT	disease	BEFREE
C1854838	Progressive neurologic deterioration	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1868675	PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	disease	BEFREE
C1868681	DYSTONIA 12	disease	BEFREE
C1869117	Paroxysmal nonkinesigenic dyskinesia	disease	BEFREE
C1956346	Coronary Artery Disease	disease	BEFREE;LHGDN
C2673535	DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)	disease	BEFREE;CLINVAR;UNIPROT
C2673700	Brisk reflexes	phenotype	HPO
C2700617	Irritation - emotion	phenotype	HPO
C2717866	Vestibulodynia	disease	BEFREE
C3178789	Widespread Chronic Pain	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3714760	Drug-induced tardive dyskinesia	disease	BEFREE
C3875321	Inflammatory dermatosis	group	BEFREE
C3888090	Early onset torsion dystonia	disease	BEFREE
C4020871	Dystonic disease	disease	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020884	Anxiety disease	disease	HPO
C4022403	Abnormality of the substantia nigra	phenotype	HPO
C4275179	Young onset Parkinson disease	disease	BEFREE
C4280803	Decreased CSF homovanillic acid	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003924	GTPase activity	IDA
GO:0003934	GTP cyclohydrolase I activity	IDA
GO:0003934	GTP cyclohydrolase I activity	IBA
GO:0005509	calcium ion binding	IEA
GO:0005515	protein binding	IPI
GO:0005525	GTP binding	IDA
GO:0005525	GTP binding	IBA
GO:0008270	zinc ion binding	IDA
GO:0008270	zinc ion binding	IBA
GO:0030742	GTP-dependent protein binding	IEA
GO:0031369	translation initiation factor binding	IEA
GO:0042802	identical protein binding	IPI
GO:0042803	protein homodimerization activity	IPI
GO:0044877	protein-containing complex binding	IEA
GO:0050662	coenzyme binding	IEA
GO:0051019	mitogen-activated protein kinase binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006729	tetrahydrobiopterin biosynthetic process	IMP
GO:0006729	tetrahydrobiopterin biosynthetic process	IBA
GO:0006729	tetrahydrobiopterin biosynthetic process	IDA
GO:0006809	nitric oxide biosynthetic process	NAS
GO:0008217	regulation of blood pressure	IMP
GO:0010460	positive regulation of heart rate	IEA
GO:0014916	regulation of lung blood pressure	IEA
GO:0032496	response to lipopolysaccharide	IDA
GO:0034341	response to interferon-gamma	IDA
GO:0034612	response to tumor necrosis factor	IDA
GO:0035998	7,8-dihydroneopterin 3'-triphosphate biosynthetic process	IEA
GO:0042311	vasodilation	IEA
GO:0042416	dopamine biosynthetic process	IDA
GO:0042559	pteridine-containing compound biosynthetic process	IDA
GO:0045776	negative regulation of blood pressure	IEA
GO:0046654	tetrahydrofolate biosynthetic process	IEA
GO:0048265	response to pain	ISS
GO:0050884	neuromuscular process controlling posture	IMP
GO:0051000	positive regulation of nitric-oxide synthase activity	IDA
GO:0051000	positive regulation of nitric-oxide synthase activity	IMP
GO:0051186	cofactor metabolic process	TAS
GO:0065003	protein-containing complex assembly	IEA
GO:2000121	regulation of removal of superoxide radicals	IMP
GO:0032496	response to lipopolysaccharide	IEP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	IDA
GO:0005737	cytoplasm	IDA
GO:0005737	cytoplasm	IBA
GO:0005829	cytosol	IDA
GO:0005829	cytosol	TAS
GO:0031410	cytoplasmic vesicle	IDA
GO:0031965	nuclear membrane	IDA
GO:0032991	protein-containing complex	IDA
GO:0044306	neuron projection terminus	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1474151	Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation	TAS
R-HSA-196854	Metabolism of vitamins and cofactors	TAS
R-HSA-8978934	Metabolism of cofactors	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C472829	1-(2-cyano-3,12-dioxooleana-1,9-dien-28-oyl) imidazole	1-(2-cyano-3,12-dioxooleana-1,9-dien-28-oyl) imidazole results in increased expression of GCH1 mRNA	27071940
C472829	1-(2-cyano-3,12-dioxooleana-1,9-dien-28-oyl) imidazole	NFE2L2 gene mutant form inhibits the reaction [1-(2-cyano-3,12-dioxooleana-1,9-dien-28-oyl) imidazole results in increased expression of GCH1 mRNA]	27071940
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of GCH1 mRNA	28329830
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in increased expression of GCH1 mRNA	19933214
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of GCH1 mRNA	25614096
C017202	2,4-diaminohypoxanthine	[2,4-diaminohypoxanthine results in decreased activity of GCH1 protein] which affects the susceptibility to Acetylcholine	12855421
C017202	2,4-diaminohypoxanthine	[2,4-diaminohypoxanthine results in decreased activity of GCH1 protein] which affects the susceptibility to Calcimycin	12855421
C017202	2,4-diaminohypoxanthine	2,4-diaminohypoxanthine results in decreased expression of GCH1 protein	12855421
C017202	2,4-diaminohypoxanthine	sepiapterin inhibits the reaction [[2,4-diaminohypoxanthine results in decreased activity of GCH1 protein] which affects the susceptibility to Calcimycin]	12855421
C017202	2,4-diaminohypoxanthine	2,4-diaminohypoxanthine inhibits the reaction [[GCH1 protein co-treated with Guanosine Triphosphate] results in increased chemical synthesis of sapropterin]	7756597
C017202	2,4-diaminohypoxanthine	2,4-diaminohypoxanthine results in decreased activity of GCH1 protein	7756597
C010914	2,4-diaminotoluene	2,4-diaminotoluene results in increased expression of GCH1 mRNA	20713471
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of GCH1 mRNA	21346803
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of GCH1 mRNA	21346803
C472791	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in decreased expression of GCH1 mRNA	16788091
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GCH1 mRNA	27188386
C027576	4-hydroxy-2-nonenal	4-hydroxy-2-nonenal results in decreased activity of GCH1 protein	17872449
C027576	4-hydroxy-2-nonenal	[4-hydroxy-2-nonenal results in decreased activity of GCH1 protein] which results in decreased chemical synthesis of sapropterin	17872449
C027576	4-hydroxy-2-nonenal	4-hydroxy-2-nonenal results in increased degradation of GCH1 protein	17872449
C027576	4-hydroxy-2-nonenal	Ascorbic Acid inhibits the reaction [[4-hydroxy-2-nonenal results in decreased activity of GCH1 protein] which results in decreased chemical synthesis of sapropterin]	17872449
C027576	4-hydroxy-2-nonenal	Ascorbic Acid inhibits the reaction [4-hydroxy-2-nonenal results in increased degradation of GCH1 protein]	17872449
C027576	4-hydroxy-2-nonenal	lactacystin inhibits the reaction [[4-hydroxy-2-nonenal results in decreased activity of GCH1 protein] which results in decreased chemical synthesis of sapropterin]	17872449
C027576	4-hydroxy-2-nonenal	lactacystin inhibits the reaction [4-hydroxy-2-nonenal results in increased degradation of GCH1 protein]	17872449
C017226	7,8-dihydrobiopterin	EPO protein inhibits the reaction [[GCH1 gene mutant form results in increased oxidation of sapropterin] which results in increased chemical synthesis of 7,8-dihydrobiopterin]	25490417
C017226	7,8-dihydrobiopterin	GCH1 gene mutant form results in increased abundance of 7,8-dihydrobiopterin	25490417
C017226	7,8-dihydrobiopterin	[GCH1 gene mutant form results in increased oxidation of sapropterin] which results in increased chemical synthesis of 7,8-dihydrobiopterin	25490417
C496492	abrine	abrine results in increased expression of GCH1 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of GCH1 mRNA	26690555
D000082	Acetaminophen	Acetaminophen affects the expression of GCH1 mRNA	17562736
D000109	Acetylcholine	EPO protein inhibits the reaction [GCH1 gene mutant form results in decreased susceptibility to Acetylcholine]	25490417
D000109	Acetylcholine	GCH1 gene mutant form results in decreased susceptibility to Acetylcholine	25490417
D000109	Acetylcholine	[2,4-diaminohypoxanthine results in decreased activity of GCH1 protein] which affects the susceptibility to Acetylcholine	12855421
D000225	Adenine	Adenine results in decreased expression of GCH1 mRNA	24211769
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of GCH1 mRNA	16483693
D000952	Antigens, Polyomavirus Transforming	Antigens, Polyomavirus Transforming results in increased expression of GCH1 mRNA	26680231
D000968	Antimycin A	Antimycin A results in increased expression of GCH1 mRNA	19304788
D018501	Antirheumatic Agents	Antirheumatic Agents results in decreased expression of GCH1 mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of GCH1 gene	25304211
D001205	Ascorbic Acid	Ascorbic Acid inhibits the reaction [[4-hydroxy-2-nonenal results in decreased activity of GCH1 protein] which results in decreased chemical synthesis of sapropterin]	17872449
D001205	Ascorbic Acid	Ascorbic Acid inhibits the reaction [4-hydroxy-2-nonenal results in increased degradation of GCH1 protein]	17872449
D001280	Atrazine	Atrazine affects the expression of GCH1 mRNA	25929836
C030935	benz(a)anthracene	benz(a)anthracene results in increased expression of GCH1 mRNA	23656968
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of GCH1 mRNA	22228805
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in increased expression of GCH1 mRNA	26377693
C044887	beta-methylcholine	beta-methylcholine affects the expression of GCH1 mRNA	21179406
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of GCH1 mRNA	30951980
C002791	bismuth tripotassium dicitrate	bismuth tripotassium dicitrate results in increased expression of GCH1 mRNA	15912405
C006780	bisphenol A	bisphenol A results in increased expression of GCH1 mRNA	25181051
C000611646	bisphenol F	bisphenol F results in increased expression of GCH1 mRNA	30951980
C005961	bis(tri-n-butyltin)oxide	bis(tri-n-butyltin)oxide results in increased expression of GCH1 mRNA	22434021
C018475	butyraldehyde	butyraldehyde results in increased expression of GCH1 mRNA	26079696
D019256	Cadmium Chloride	Cadmium Chloride affects the expression of GCH1 mRNA	22110744
C055494	caffeic acid phenethyl ester	[Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in increased expression of GCH1 mRNA	20360939
D000001	Calcimycin	[2,4-diaminohypoxanthine results in decreased activity of GCH1 protein] which affects the susceptibility to Calcimycin	12855421
D000001	Calcimycin	sepiapterin inhibits the reaction [[2,4-diaminohypoxanthine results in decreased activity of GCH1 protein] which affects the susceptibility to Calcimycin]	12855421
D002211	Capsaicin	GCH1 gene SNP affects the susceptibility to Capsaicin	19081190
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of GCH1 mRNA	27339419
C031180	chrysene	chrysene results in decreased expression of GCH1 mRNA	26377693
C418118	CI 1044	CI 1044 results in increased expression of GCH1 mRNA	17569694
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of GCH1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of GCH1 mRNA	24211769
D002945	Cisplatin	Cisplatin results in increased expression of GCH1 mRNA	27392435
D002994	Clofibrate	Clofibrate results in decreased expression of GCH1 mRNA	23811191
C018021	cobaltous chloride	cobaltous chloride results in increased expression of GCH1 mRNA	24386269
D003078	Colchicine	Colchicine results in decreased expression of GCH1 mRNA	24211769
D003300	Copper	Copper results in decreased expression of GCH1 mRNA	30556269
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of GCH1 mRNA	19549813
D006152	Cyclic GMP	CAT protein inhibits the reaction [GCH1 gene mutant form results in increased abundance of Cyclic GMP]	25490417
D006152	Cyclic GMP	EPO protein inhibits the reaction [GCH1 gene mutant form results in increased abundance of Cyclic GMP]	25490417
D006152	Cyclic GMP	GCH1 gene mutant form results in increased abundance of Cyclic GMP	25490417
D006152	Cyclic GMP	GCH1 protein affects the abundance of Cyclic GMP	21963838
D016572	Cyclosporine	Cyclosporine results in decreased expression of GCH1 mRNA	20106945; 25562108;
C093628	cyproconazole	cyproconazole results in increased expression of GCH1 mRNA	22334560
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of GCH1 mRNA	23640034
D000077209	Decitabine	Decitabine results in increased expression of GCH1 mRNA	19151715; 19194470;
D003907	Dexamethasone	Dexamethasone results in decreased expression of GCH1 mRNA	11368234
D003976	Diazinon	Diazinon results in increased methylation of GCH1 gene	22964155
D003976	Diazinon	Diazinon affects the expression of GCH1 mRNA	22546817
C000944	dicrotophos	dicrotophos results in decreased expression of GCH1 mRNA	28302478
D004041	Dietary Fats	Dietary Fats results in decreased expression of GCH1 mRNA	15238619; 25016146;
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in increased expression of GCH1 mRNA	20360939
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of GCH1 mRNA	17005392
D004298	Dopamine	GCH1 protein results in increased abundance of Dopamine	15929554
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GCH1 mRNA	27188386
D004726	Endosulfan	Endosulfan results in increased expression of GCH1 mRNA	29391264
C109476	epoxiconazole	epoxiconazole results in increased expression of GCH1 mRNA	22334560
D004958	Estradiol	Estradiol affects the expression of GCH1 mRNA	14699072
D004958	Estradiol	[Estradiol binds to ESR2 protein] which results in increased expression of GCH1 mRNA	20404318
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of GCH1 mRNA	30165855
D000431	Ethanol	Ethanol results in increased expression of GCH1 mRNA	29361514
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of GCH1 mRNA	17108234
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of GCH1 mRNA	15576828; 17557909;
C024565	ethylene dichloride	ethylene dichloride results in decreased expression of GCH1 mRNA	28189721
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of GCH1 mRNA	24211769
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of GCH1 mRNA	23649840
D017313	Fenretinide	Fenretinide results in decreased expression of GCH1 mRNA	28973697
D017313	Fenretinide	Fenretinide results in increased expression of GCH1 mRNA	28973697
D005419	Flavonoids	Flavonoids results in decreased expression of GCH1 mRNA	18035473
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in increased expression of GCH1 mRNA	28329830
D005485	Flutamide	Flutamide results in increased expression of GCH1 mRNA	24136188
D005492	Folic Acid	[Folic Acid deficiency co-treated with Methotrexate] results in increased expression of GCH1 mRNA	24657277
D005557	Formaldehyde	Formaldehyde results in increased expression of GCH1 mRNA	23649840
D000077267	Fulvestrant	Fulvestrant inhibits the reaction [Resveratrol results in increased expression of GCH1 protein]	17666920
C039281	furan	furan results in increased methylation of GCH1 gene	22079235
D005978	Glutathione	Glutathione deficiency results in increased expression of GCH1 mRNA	15345336
D006160	Guanosine Triphosphate	2,4-diaminohypoxanthine inhibits the reaction [[GCH1 protein co-treated with Guanosine Triphosphate] results in increased chemical synthesis of sapropterin]	7756597
D006160	Guanosine Triphosphate	[GCH1 protein co-treated with Guanosine Triphosphate] results in increased chemical synthesis of sapropterin	7756597
C425931	GW 501516	GW 501516 inhibits the reaction [APP gene mutant form results in decreased expression of GCH1 protein]	22886847
D001556	Hexachlorocyclohexane	Hexachlorocyclohexane results in increased expression of GCH1 mRNA	18804290
D006861	Hydrogen Peroxide	EPO protein inhibits the reaction [GCH1 gene mutant form results in increased abundance of Hydrogen Peroxide]	25490417
D006861	Hydrogen Peroxide	GCH1 gene mutant form results in increased abundance of Hydrogen Peroxide	25490417
D006861	Hydrogen Peroxide	GCH1 protein affects the abundance of Hydrogen Peroxide	21963838
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of GCH1 mRNA	25613284
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of GCH1 mRNA	27392435
C098607	JP8 aviation fuel	JP8 aviation fuel results in increased expression of GCH1 protein	17337753
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of GCH1 mRNA	23430699; 24796395; 25307878;
C067713	lactacystin	lactacystin inhibits the reaction [[4-hydroxy-2-nonenal results in decreased activity of GCH1 protein] which results in decreased chemical synthesis of sapropterin]	17872449
C067713	lactacystin	lactacystin inhibits the reaction [4-hydroxy-2-nonenal results in increased degradation of GCH1 protein]	17872449
C008261	lead acetate	lead acetate results in increased expression of GCH1 mRNA	25270620
C008261	lead acetate	lead acetate results in decreased expression of GCH1 mRNA	22641619
D007980	Levodopa	[TH co-treated with GCH1] inhibits the reaction [Levodopa promotes the reaction [Oxidopamine results in increased expression of PENK mRNA]]	15659429
D007980	Levodopa	[TH co-treated with GCH1] inhibits the reaction [[Oxidopamine co-treated with Levodopa] results in increased expression of FOSB protein]	15659429
D007980	Levodopa	[TH co-treated with GCH1] inhibits the reaction [[Oxidopamine co-treated with Levodopa] results in increased expression of PDYN mRNA]	15659429
C433788	lipopolysaccharide, E. coli O26-B6	[lipopolysaccharide, E. coli O26-B6 co-treated with TNF protein co-treated with IFNG protein] results in increased expression of GCH1 mRNA	12566086
C433788	lipopolysaccharide, E. coli O26-B6	Rosiglitazone inhibits the reaction [[lipopolysaccharide, E. coli O26-B6 co-treated with TNF protein co-treated with IFNG protein] results in increased expression of GCH1 mRNA]	12566086
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of GCH1 mRNA	25890327
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of GCH1 mRNA	25613284
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of GCH1 protein	18634867
D058185	Magnetite Nanoparticles	[Succimer binds to Magnetite Nanoparticles] which results in increased expression of GCH1 mRNA	21641980
D058185	Magnetite Nanoparticles	[Succimer co-treated with Magnetite Nanoparticles] results in increased expression of GCH1 mRNA	26378955
C025340	manganese chloride	manganese chloride results in decreased expression of GCH1 mRNA	28801915
D008694	Methamphetamine	Methamphetamine results in increased expression of GCH1 mRNA	19564919
D008727	Methotrexate	[Folic Acid deficiency co-treated with Methotrexate] results in increased expression of GCH1 mRNA	24657277
D008727	Methotrexate	Methotrexate results in increased expression of GCH1 mRNA	24657277
D008748	Methylcholanthrene	Methylcholanthrene results in increased expression of GCH1 mRNA	20713471
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of GCH1 mRNA	23179753
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of GCH1 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of GCH1 mRNA	24211769
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of GCH1 mRNA	23649840
D008774	Methylphenidate	Methylphenidate results in decreased expression of GCH1 mRNA	22470460
D016685	Mitomycin	Mitomycin results in decreased expression of GCH1 mRNA	24211769
D008942	Mitoxantrone	GCH1 protein affects the susceptibility to Mitoxantrone	16217747
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of GCH1 mRNA	29348435
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of GCH1 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of GCH1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of GCH1 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of GCH1 mRNA	25554681
D009281	Naphthalenes	Naphthalenes results in increased expression of GCH1 protein	17337753
C017096	n-butoxyethanol	n-butoxyethanol results in increased expression of GCH1 mRNA	19812364
C051752	nefazodone	nefazodone results in increased expression of GCH1 mRNA	24136188
D019798	Neopterin	EPO protein promotes the reaction [GCH1 protein results in increased chemical synthesis of Neopterin]	25490417
D019798	Neopterin	GCH1 protein results in increased chemical synthesis of Neopterin	25490417
D009532	Nickel	Nickel results in increased expression of GCH1 mRNA	25583101
C022838	nickel chloride	nickel chloride affects the expression of GCH1 mRNA	22546817
C028007	nickel monoxide	nickel monoxide results in increased expression of GCH1 mRNA	19167457
D009538	Nicotine	Nicotine results in increased expression of GCH1 mRNA	16949557
C012655	nimesulide	nimesulide results in increased expression of GCH1 mRNA	24136188
C014707	nitrosobenzylmethylamine	nitrosobenzylmethylamine results in increased expression of GCH1 mRNA	17616710
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of GCH1 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in decreased expression of GCH1 mRNA	25729387
D016627	Oxidopamine	[TH co-treated with GCH1] inhibits the reaction [Levodopa promotes the reaction [Oxidopamine results in increased expression of PENK mRNA]]	15659429
D016627	Oxidopamine	[TH co-treated with GCH1] inhibits the reaction [[Oxidopamine co-treated with Levodopa] results in increased expression of FOSB protein]	15659429
D016627	Oxidopamine	[TH co-treated with GCH1] inhibits the reaction [[Oxidopamine co-treated with Levodopa] results in increased expression of PDYN mRNA]	15659429
D010100	Oxygen	Oxygen deficiency results in decreased expression of GCH1 mRNA	26516004
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of GCH1 mRNA	30529165
D010126	Ozone	Ozone results in increased expression of GCH1 mRNA	17095637
D010269	Paraquat	Paraquat results in increased expression of GCH1 mRNA	20388547
C568608	PCI 5002	[PCI 5002 co-treated with Zinc] results in increased expression of GCH1 mRNA	18593933
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether results in increased expression of GCH1 mRNA	26705709
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of GCH1 mRNA	18804290
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in increased expression of GCH1 mRNA	19162173
D010634	Phenobarbital	Phenobarbital affects the expression of GCH1 mRNA	23091169
D010634	Phenobarbital	Phenobarbital results in increased expression of GCH1 mRNA	19270015
D010634	Phenobarbital	Phenobarbital results in increased expression of GCH1 mRNA	19162173
C006253	pirinixic acid	pirinixic acid results in decreased expression of GCH1 mRNA	18445702
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in increased expression of GCH1 mRNA	19162173
C024273	profenofos	profenofos results in decreased expression of GCH1 mRNA	17569032
D011374	Progesterone	Progesterone results in increased expression of GCH1 mRNA	19246319
C045950	propiconazole	propiconazole results in increased expression of GCH1 mRNA	22334560
C010313	pseudocumene	pseudocumene results in increased expression of GCH1 protein	17337753
C432165	pyrazolanthrone	pyrazolanthrone inhibits the reaction [IL1A protein results in increased expression of GCH1 mRNA]	12832416
D012110	Reserpine	Reserpine results in increased expression of GCH1 mRNA	8103077
D012110	Reserpine	Reserpine results in increased expression of GCH1 mRNA alternative form	8103077
D000077185	Resveratrol	Resveratrol results in increased expression of GCH1	20610621
D000077185	Resveratrol	Resveratrol results in increased expression of GCH1 mRNA	20610621
D000077185	Resveratrol	[Resveratrol results in increased expression of GCH1 mRNA] which results in increased abundance of sapropterin	20610621
D000077185	Resveratrol	Fulvestrant inhibits the reaction [Resveratrol results in increased expression of GCH1 protein]	17666920
D000077185	Resveratrol	Resveratrol results in increased expression of GCH1 protein	17666920
D000077154	Rosiglitazone	Rosiglitazone inhibits the reaction [[lipopolysaccharide, E. coli O26-B6 co-treated with TNF protein co-treated with IFNG protein] results in increased expression of GCH1 mRNA]	12566086
D012402	Rotenone	Rotenone results in increased expression of GCH1 mRNA	19304788
D012402	Rotenone	Rotenone results in decreased expression of GCH1 mRNA	19013527; 28374803;
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in increased expression of GCH1 mRNA	21427059
C003402	sapropterin	[4-hydroxy-2-nonenal results in decreased activity of GCH1 protein] which results in decreased chemical synthesis of sapropterin	17872449
C003402	sapropterin	Ascorbic Acid inhibits the reaction [[4-hydroxy-2-nonenal results in decreased activity of GCH1 protein] which results in decreased chemical synthesis of sapropterin]	17872449
C003402	sapropterin	lactacystin inhibits the reaction [[4-hydroxy-2-nonenal results in decreased activity of GCH1 protein] which results in decreased chemical synthesis of sapropterin]	17872449
C003402	sapropterin	EPO protein inhibits the reaction [GCH1 mutant form results in decreased abundance of sapropterin]	25041251
C003402	sapropterin	GCH1 mutant form results in decreased abundance of sapropterin	25041251
C003402	sapropterin	GCH1 protein results in increased chemical synthesis of sapropterin	14551046
C003402	sapropterin	EPO protein inhibits the reaction [[GCH1 gene mutant form results in increased oxidation of sapropterin] which results in increased chemical synthesis of 7,8-dihydrobiopterin]	25490417
C003402	sapropterin	GCH1 gene mutant form results in increased oxidation of and results in decreased abundance of sapropterin	25490417
C003402	sapropterin	[GCH1 gene mutant form results in increased oxidation of sapropterin] which results in increased chemical synthesis of 7,8-dihydrobiopterin	25490417
C003402	sapropterin	GCH1 protein affects the abundance of sapropterin	21963838
C003402	sapropterin	[Resveratrol results in increased expression of GCH1 mRNA] which results in increased abundance of sapropterin	20610621
C003402	sapropterin	2,4-diaminohypoxanthine inhibits the reaction [[GCH1 protein co-treated with Guanosine Triphosphate] results in increased chemical synthesis of sapropterin]	7756597
C003402	sapropterin	GCH1 protein affects the chemical synthesis of sapropterin	20610621
C003402	sapropterin	[GCH1 protein co-treated with Guanosine Triphosphate] results in increased chemical synthesis of sapropterin	7756597
C003402	sapropterin	GCH1 protein results in increased chemical synthesis of sapropterin	11368234
D012524	Sarin	Sarin results in decreased expression of GCH1 mRNA	19522546
C016727	sepiapterin	sepiapterin inhibits the reaction [[2,4-diaminohypoxanthine results in decreased activity of GCH1 protein] which affects the susceptibility to Calcimycin]	12855421
D000077149	Sevoflurane	Sevoflurane affects the expression of GCH1 mRNA	15967596
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of GCH1 mRNA	25895662
D012822	Silicon Dioxide	Silicon Dioxide results in increased expression of GCH1 mRNA	19073995
D012822	Silicon Dioxide	Silicon Dioxide results in increased expression of GCH1 mRNA	22431001
D012834	Silver	Silver results in decreased expression of GCH1 mRNA	27131904
D012906	Smoke	Smoke affects the expression of GCH1 mRNA	23693141
C016104	sodium bichromate	sodium bichromate results in increased expression of GCH1 mRNA	22561333
C016104	sodium bichromate	sodium bichromate results in decreased expression of GCH1 mRNA	22561333
D012999	Soman	Soman results in increased expression of GCH1 mRNA	19281266
D053260	Soot	Soot results in increased expression of GCH1 mRNA	22461453; 26551751;
C041711	St. Thomas' Hospital cardioplegic solution	St. Thomas' Hospital cardioplegic solution results in increased expression of GCH1 mRNA	16214533
D004113	Succimer	[Succimer binds to Magnetite Nanoparticles] which results in increased expression of GCH1 mRNA	21641980
D004113	Succimer	[Succimer co-treated with Magnetite Nanoparticles] results in increased expression of GCH1 mRNA	26378955
D000077210	Sunitinib	Sunitinib results in increased expression of GCH1 mRNA	31533062
D013481	Superoxides	GCH1 protein affects the abundance of Superoxides	21963838
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased expression of GCH1 mRNA	18804290
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of GCH1 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of GCH1 mRNA	19770486
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of GCH1 mRNA	18691609; 19933214;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of GCH1 mRNA	21215274
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of GCH1 mRNA	25613284
C009495	titanium dioxide	titanium dioxide results in decreased expression of GCH1 mRNA	29264374
C009495	titanium dioxide	titanium dioxide results in increased expression of GCH1 mRNA	27760801
C009495	titanium dioxide	titanium dioxide results in increased expression of GCH1 mRNA	30012374
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of GCH1 mRNA	20133372
D019772	Topotecan	GCH1 protein affects the susceptibility to Topotecan	16217747
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of GCH1 mRNA	25729387
D019772	Topotecan	Topotecan results in decreased expression of GCH1 mRNA	25729387
D014118	Toxins, Biological	Toxins, Biological affects the expression of GCH1 mRNA	19682533
D014212	Tretinoin	Tretinoin results in increased expression of GCH1 mRNA	21934132
C011559	tributyltin	tributyltin results in decreased expression of GCH1 mRNA	29505797
C012589	trichostatin A	trichostatin A results in increased expression of GCH1 mRNA	24935251
D014284	Triiodothyronine	Triiodothyronine results in increased expression of GCH1 mRNA	15953391
D014302	Trinitrobenzenesulfonic Acid	Trinitrobenzenesulfonic Acid results in increased expression of GCH1 mRNA	17982090
C022884	undecane	undecane results in increased expression of GCH1 protein	17337753
D014520	Urethane	Urethane results in increased expression of GCH1 mRNA	28818685
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of GCH1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of GCH1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of GCH1 mRNA	23179753; 24383497; 24935251; 25192806; 26272509; 27188386; 28001369; 29154799;
D014635	Valproic Acid	Valproic Acid results in increased expression of GCH1 mRNA	21427059
C025643	vinclozolin	vinclozolin results in decreased expression of GCH1 mRNA	23869203
C029297	vinylidene chloride	vinylidene chloride results in increased expression of GCH1 mRNA	26682919
D015032	Zinc	[PCI 5002 co-treated with Zinc] results in increased expression of GCH1 mRNA	18593933
D015034	Zinc Oxide	Zinc Oxide analog results in decreased expression of GCH1 mRNA	27215404
D019287	Zinc Sulfate	Zinc Sulfate results in decreased expression of GCH1 mRNA	27215404

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0021	Allosteric enzyme
KW-0025	Alternative splicing
KW-0963	Cytoplasm
KW-0225	Disease mutation
KW-1023	Dystonia
KW-0342	GTP-binding
KW-0378	Hydrolase
KW-0479	Metal-binding
KW-0547	Nucleotide-binding
KW-0539	Nucleus
KW-0908	Parkinsonism
KW-0586	Phenylketonuria
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0783	Tetrahydrobiopterin biosynthesis
KW-0862	Zinc

Interpro

InterPro ID	InterPro Term
IPR043133	GTP-CH-I_C/QueF
IPR043134	GTP-CH-I_N
IPR001474	GTP_CycHdrlase_I
IPR018234	GTP_CycHdrlase_I_CS
IPR020602	GTP_CycHdrlase_I_dom

PROSITE

PROSITE ID	PROSITE Term
PS00859	GTP_CYCLOHYDROL_1_1
PS00860	GTP_CYCLOHYDROL_1_2

Pfam

Pfam ID	Pfam Term
PF01227	GTP_cyclohydroI

Gene: GCH1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

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