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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2643
Gene name	GTP cyclohydrolase 1
Gene symbol	GCH1
Synonyms (NCBI Gene)	DYT14DYT5DYT5aGCHGTP-CH-1GTPCH1HPABH4B
Chromosome	14
Chromosome location	14q22.2
Summary	This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential

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SNP ID	Visualize variation	Clinical significance	Consequence
rs41298440	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs41298442	T>C,G	Pathogenic, uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs56127440	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Genic upstream transcript variant, coding sequence variant, missense variant
rs104894433	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs104894434	A>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894435	C>T	Pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs104894436	C>A	Pathogenic	Missense variant, coding sequence variant
rs104894437	T>A	Pathogenic	Missense variant, coding sequence variant
rs104894438	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894439	C>G	Pathogenic	Missense variant, genic upstream transcript variant, initiator codon variant
rs104894440	T>G	Pathogenic	Missense variant, coding sequence variant
rs104894441	A>T	Pathogenic	Missense variant, coding sequence variant
rs104894442	C>G	Pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs104894443	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs104894444	G>A,T	Pathogenic	Stop gained, coding sequence variant, genic upstream transcript variant, missense variant
rs104894445	C>T	Pathogenic	Missense variant, coding sequence variant
rs137852633	G>C	Pathogenic	Missense variant, coding sequence variant
rs139350456	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic upstream transcript variant
rs200891969	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs201255606	C>G,T	Pathogenic	Stop lost, terminator codon variant, intron variant, synonymous variant
rs763294577	G>T	Likely-pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant
rs886039378	C>-	Likely-pathogenic	Coding sequence variant, stop gained
rs886039379	AT>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs886041708	C>T	Pathogenic	Coding sequence variant, stop gained, genic upstream transcript variant
rs988395114	C>T	Pathogenic	Coding sequence variant, missense variant
rs1064796560	C>T	Likely-pathogenic	Missense variant, coding sequence variant, genic upstream transcript variant
rs1353623780	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1393095176	C>T	Likely-pathogenic, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant
rs1418922853	A>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1555358382	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant
rs1555358507	C>A,T	Pathogenic	Splice donor variant
rs1555358599	C>A,G	Pathogenic	Splice donor variant
rs1555358604	C>G,T	Pathogenic	Splice acceptor variant
rs1555360034	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1555360050	C>G,T	Pathogenic	Splice acceptor variant
rs1555362835	->T	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555362845	AGCTCGTTATCC>T	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555362905	ACAGGGC>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1555362907	T>A,C	Pathogenic	Genic upstream transcript variant, missense variant, initiator codon variant
rs1566658823	A>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1566687244	G>A,T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1566687321	AGGC>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1566687487	->G	Pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1594971274	T>A	Pathogenic	Stop gained, coding sequence variant
rs1594982939	TAC>CTCACA	Pathogenic	Splice donor variant, intron variant
rs1595031221	->C	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1595031524	->CCTC	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1595031674	C>-	Pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1595031768	->AGA	Pathogenic	Inframe insertion, genic upstream transcript variant, coding sequence variant

125

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miRTarBase ID	miRNA	Experiments	Reference
MIRT002772	hsa-miR-1-3p	Microarray	15685193
MIRT018241	hsa-miR-335-5p	Microarray	18185580
MIRT022842	hsa-miR-124-3p	Microarray	18668037
MIRT002772	hsa-miR-1-3p	Microarray;Other	15685193
MIRT024891	hsa-miR-215-5p	Microarray	19074876
MIRT026625	hsa-miR-192-5p	Microarray	19074876
MIRT029667	hsa-miR-26b-5p	Microarray	19088304
MIRT050671	hsa-miR-18a-5p	CLASH	23622248
MIRT720800	hsa-miR-4802-3p	HITS-CLIP	19536157
MIRT720799	hsa-miR-942-3p	HITS-CLIP	19536157
MIRT720798	hsa-miR-490-5p	HITS-CLIP	19536157
MIRT720797	hsa-miR-494-3p	HITS-CLIP	19536157
MIRT720796	hsa-miR-1827	HITS-CLIP	19536157
MIRT720795	hsa-miR-6765-5p	HITS-CLIP	19536157
MIRT720794	hsa-miR-1304-5p	HITS-CLIP	19536157
MIRT720793	hsa-miR-8055	HITS-CLIP	19536157
MIRT720800	hsa-miR-4802-3p	HITS-CLIP	19536157
MIRT720799	hsa-miR-942-3p	HITS-CLIP	19536157
MIRT720798	hsa-miR-490-5p	HITS-CLIP	19536157
MIRT720797	hsa-miR-494-3p	HITS-CLIP	19536157
MIRT720796	hsa-miR-1827	HITS-CLIP	19536157
MIRT720795	hsa-miR-6765-5p	HITS-CLIP	19536157
MIRT720794	hsa-miR-1304-5p	HITS-CLIP	19536157
MIRT720793	hsa-miR-8055	HITS-CLIP	19536157
MIRT1014630	hsa-miR-1	CLIP-seq
MIRT1014631	hsa-miR-124	CLIP-seq
MIRT1014632	hsa-miR-1263	CLIP-seq
MIRT1014633	hsa-miR-1267	CLIP-seq
MIRT1014634	hsa-miR-1306	CLIP-seq
MIRT1014635	hsa-miR-1324	CLIP-seq
MIRT1014636	hsa-miR-193a-3p	CLIP-seq
MIRT1014637	hsa-miR-193b	CLIP-seq
MIRT1014638	hsa-miR-206	CLIP-seq
MIRT1014639	hsa-miR-2115	CLIP-seq
MIRT1014640	hsa-miR-27a	CLIP-seq
MIRT1014641	hsa-miR-27b	CLIP-seq
MIRT1014642	hsa-miR-299-5p	CLIP-seq
MIRT1014643	hsa-miR-323-5p	CLIP-seq
MIRT1014644	hsa-miR-34a	CLIP-seq
MIRT1014645	hsa-miR-34c-5p	CLIP-seq
MIRT1014646	hsa-miR-3545-3p	CLIP-seq
MIRT1014647	hsa-miR-3658	CLIP-seq
MIRT1014648	hsa-miR-3673	CLIP-seq
MIRT1014649	hsa-miR-3687	CLIP-seq
MIRT1014650	hsa-miR-3714	CLIP-seq
MIRT1014651	hsa-miR-3910	CLIP-seq
MIRT1014652	hsa-miR-4442	CLIP-seq
MIRT1014653	hsa-miR-4452	CLIP-seq
MIRT1014654	hsa-miR-4456	CLIP-seq
MIRT1014655	hsa-miR-449a	CLIP-seq
MIRT1014656	hsa-miR-449b	CLIP-seq
MIRT1014657	hsa-miR-4520a-3p	CLIP-seq
MIRT1014658	hsa-miR-4520b-3p	CLIP-seq
MIRT1014659	hsa-miR-4662a-3p	CLIP-seq
MIRT1014660	hsa-miR-4802-5p	CLIP-seq
MIRT1014661	hsa-miR-506	CLIP-seq
MIRT1014662	hsa-miR-513a-5p	CLIP-seq
MIRT1014663	hsa-miR-548ad	CLIP-seq
MIRT1014664	hsa-miR-590-3p	CLIP-seq
MIRT1014665	hsa-miR-613	CLIP-seq
MIRT1014666	hsa-miR-653	CLIP-seq
MIRT1014667	hsa-miR-659	CLIP-seq
MIRT1014668	hsa-miR-668	CLIP-seq
MIRT1014669	hsa-miR-765	CLIP-seq
MIRT1014670	hsa-miR-873	CLIP-seq
MIRT1014671	hsa-miR-876-3p	CLIP-seq
MIRT1014672	hsa-miR-892b	CLIP-seq
MIRT1014673	hsa-miR-9	CLIP-seq
MIRT1014631	hsa-miR-124	CLIP-seq
MIRT1014674	hsa-miR-203	CLIP-seq
MIRT1014675	hsa-miR-2681	CLIP-seq
MIRT1014676	hsa-miR-3201	CLIP-seq
MIRT1014677	hsa-miR-323b-3p	CLIP-seq
MIRT1014678	hsa-miR-3613-3p	CLIP-seq
MIRT1014679	hsa-miR-361-3p	CLIP-seq
MIRT1014647	hsa-miR-3658	CLIP-seq
MIRT1014650	hsa-miR-3714	CLIP-seq
MIRT1014651	hsa-miR-3910	CLIP-seq
MIRT1014659	hsa-miR-4662a-3p	CLIP-seq
MIRT1014680	hsa-miR-4668-3p	CLIP-seq
MIRT1014681	hsa-miR-4694-3p	CLIP-seq
MIRT1014682	hsa-miR-4791	CLIP-seq
MIRT1014683	hsa-miR-499-3p	CLIP-seq
MIRT1014684	hsa-miR-499a-3p	CLIP-seq
MIRT1014661	hsa-miR-506	CLIP-seq
MIRT1014685	hsa-miR-548ac	CLIP-seq
MIRT1014686	hsa-miR-548c-3p	CLIP-seq
MIRT1014687	hsa-miR-548d-3p	CLIP-seq
MIRT1014688	hsa-miR-548m	CLIP-seq
MIRT1014689	hsa-miR-548z	CLIP-seq
MIRT1014690	hsa-miR-605	CLIP-seq
MIRT1014691	hsa-miR-875-5p	CLIP-seq
MIRT1014692	hsa-miR-888	CLIP-seq
MIRT1014636	hsa-miR-193a-3p	CLIP-seq
MIRT1014637	hsa-miR-193b	CLIP-seq
MIRT1014644	hsa-miR-34a	CLIP-seq
MIRT1014645	hsa-miR-34c-5p	CLIP-seq
MIRT1014655	hsa-miR-449a	CLIP-seq
MIRT1014656	hsa-miR-449b	CLIP-seq
MIRT1014672	hsa-miR-892b	CLIP-seq
MIRT1014644	hsa-miR-34a	CLIP-seq
MIRT1014645	hsa-miR-34c-5p	CLIP-seq
MIRT1014655	hsa-miR-449a	CLIP-seq
MIRT1014656	hsa-miR-449b	CLIP-seq
MIRT2000450	hsa-miR-4511	CLIP-seq
MIRT2000451	hsa-miR-4799-5p	CLIP-seq
MIRT2000452	hsa-miR-548b-3p	CLIP-seq
MIRT1014632	hsa-miR-1263	CLIP-seq
MIRT1014634	hsa-miR-1306	CLIP-seq
MIRT2233944	hsa-miR-142-5p	CLIP-seq
MIRT1014636	hsa-miR-193a-3p	CLIP-seq
MIRT1014637	hsa-miR-193b	CLIP-seq
MIRT1014644	hsa-miR-34a	CLIP-seq
MIRT1014645	hsa-miR-34c-5p	CLIP-seq
MIRT1014655	hsa-miR-449a	CLIP-seq
MIRT1014656	hsa-miR-449b	CLIP-seq
MIRT1014657	hsa-miR-4520a-3p	CLIP-seq
MIRT1014658	hsa-miR-4520b-3p	CLIP-seq
MIRT1014663	hsa-miR-548ad	CLIP-seq
MIRT2233945	hsa-miR-561	CLIP-seq
MIRT1014664	hsa-miR-590-3p	CLIP-seq
MIRT2233946	hsa-miR-603	CLIP-seq
MIRT1014667	hsa-miR-659	CLIP-seq
MIRT1014672	hsa-miR-892b	CLIP-seq
MIRT1014673	hsa-miR-9	CLIP-seq

Show/Hide all (55)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0003824	Function	Catalytic activity	IEA
GO:0003924	Function	GTPase activity	IDA	2463916
GO:0003934	Function	GTP cyclohydrolase I activity	IBA
GO:0003934	Function	GTP cyclohydrolase I activity	IDA	8068008, 11284739
GO:0003934	Function	GTP cyclohydrolase I activity	IDA	3753653, 7730309, 16778797
GO:0003934	Function	GTP cyclohydrolase I activity	IEA
GO:0005515	Function	Protein binding	IPI	9092499, 16696853, 19294699, 21988832, 32296183
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IDA	3753653, 14717702
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	IDA	16778797
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10907721
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	2463916, 3318829
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IBA
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IDA	7678411, 9445252
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IEA
GO:0006729	Process	Tetrahydrobiopterin biosynthetic process	IMP	17101830, 19666465
GO:0006809	Process	Nitric oxide biosynthetic process	NAS	9445252
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	IEA
GO:0008217	Process	Regulation of blood pressure	IMP	17717598
GO:0008270	Function	Zinc ion binding	IBA
GO:0008270	Function	Zinc ion binding	IDA	11087827, 14717702
GO:0010460	Process	Positive regulation of heart rate	IEA
GO:0014916	Process	Regulation of lung blood pressure	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	3318829
GO:0031965	Component	Nuclear membrane	IDA
GO:0032496	Process	Response to lipopolysaccharide	IDA	7678411, 9445252
GO:0032496	Process	Response to lipopolysaccharide	IEP	15604419
GO:0032991	Component	Protein-containing complex	IDA	11087823
GO:0034341	Process	Response to type II interferon	IDA	7678411, 9445252, 12607127
GO:0034612	Process	Response to tumor necrosis factor	IDA	9445252
GO:0042416	Process	Dopamine biosynthetic process	IDA	16338639
GO:0042558	Process	Pteridine-containing compound metabolic process	IEA
GO:0042559	Process	Pteridine-containing compound biosynthetic process	IDA	2463916, 3753653, 15721862
GO:0042802	Function	Identical protein binding	IPI	11087827
GO:0042803	Function	Protein homodimerization activity	IPI	16696853
GO:0044306	Component	Neuron projection terminus	TAS	23457032
GO:0046146	Process	Tetrahydrobiopterin metabolic process	IEA
GO:0046654	Process	Tetrahydrofolate biosynthetic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048265	Process	Response to pain	ISS
GO:0050884	Process	Neuromuscular process controlling posture	IMP	7874165
GO:0051000	Process	Positive regulation of nitric-oxide synthase activity	IDA	12176133, 15721862
GO:0051000	Process	Positive regulation of nitric-oxide synthase activity	IMP	17717598
GO:0051019	Function	Mitogen-activated protein kinase binding	IPI	19294699
GO:2000121	Process	Regulation of removal of superoxide radicals	IMP	19666465

MIM	HGNC	e!Ensembl
600225	4193	ENSG00000131979

P30793

Protein name

GTP cyclohydrolase 1 (EC 3.5.4.16) (GTP cyclohydrolase I) (GTP-CH-I)

Protein function

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 e

PDB

1FB1 , 6Z80 , 6Z85 , 6Z86 , 6Z87 , 6Z88 , 6Z89 , 7ALA , 7ALB , 7ALC , 7ALQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01227	GTP_cyclohydroI	71 → 249	GTP cyclohydrolase I	Domain

Tissue specificity

TISSUE SPECIFICITY: In epidermis, expressed predominantly in basal undifferentiated keratinocytes and in some but not all melanocytes (at protein level). {ECO:0000269|PubMed:16778797}.

Sequence

MEKGPVRAPAEKPRGARCSNGFPERDPPRPGPSRPAEKPPRPEAKSAQPADGWKGERPRS
EEDNELNLPNLAAAYSSILSSLGENPQRQGLLKTPWRAASAMQFFTKGYQETISDVLNDA
IFDEDHDEMVIVKDIDMFSMCEHHLVPFVGKVHIGYLPNKQVLGLSKLARIVEIYSRRLQ
VQERLTKQIAVAITEALRPAGVGVVVEATHMCMVMRGVQKMNSKTVTSTMLGVFREDPKT
REEFLTLIRS

Sequence length

250

Interactions

View interactions

	KEGG		Reactome
	Folate biosynthesis Metabolic pathways Biosynthesis of cofactors		Tetrahydrobiopterin (BH4) synthesis, recycling, salvage and regulation

926

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal central motor function	Likely pathogenic	rs2140127157	RCV001814484
Dystonia 5	Likely pathogenic; Pathogenic	rs1594989087, rs2140041744, rs2140127425, rs2140041733, rs2140038749, rs2140073988, rs2140127278, rs2140074097, rs1296731359, rs1555362907, rs2140127551, rs2140038846, rs2140041673, rs1555358604, rs2140063480 View all (47 more)	RCV001369910 RCV001377213 RCV001382935 RCV002569017 RCV001814643 RCV001946738 RCV001954666 RCV001949259 RCV001981912 RCV001999954 RCV001866517 RCV002030627 RCV002250010 RCV002250011 RCV002250907 RCV002468715 RCV003062636 RCV003027954 RCV003059765 RCV003066285 RCV003059651 RCV003153160 RCV000009853 RCV000009854 RCV000009855 RCV000009856 RCV000009857 RCV000009859 RCV000009860 RCV000009861 RCV000009868 RCV001390287 RCV003764543 RCV001221402 RCV003783608 RCV003783610 RCV003783613 RCV003783614 RCV003804058 RCV003812778 RCV000811926 RCV003766922 RCV001390286 RCV000555633 RCV000540760 RCV000551452 RCV001388236 RCV001059581 RCV000634835 RCV000634832 RCV000634834 RCV000696865 RCV000699765 RCV000689484 RCV000694754 RCV000793127 RCV000793795 RCV000794013 RCV000806490 RCV000794859 RCV000802195 RCV000796195 RCV000794588 RCV001858704 RCV001004083 RCV001051943 RCV001824413 RCV001223493 RCV001206760 RCV001231564 RCV001290400
Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive	Pathogenic	rs2140074192, rs137852633	RCV002508111 RCV002508116
Dystonic disorder	Likely pathogenic; Pathogenic	rs2140063480, rs1555360050, rs1566687487	RCV003483884 RCV003483695 RCV000678472
GCH1-related disorder	Likely pathogenic; Pathogenic	rs1418922853	RCV003403617
GTP cyclohydrolase I deficiency	Likely pathogenic; Pathogenic	rs1594989087, rs2140041744, rs2140127425, rs2140041733, rs2140073988, rs2140127278, rs2140074097, rs1296731359, rs1555362907, rs2140127551, rs2140038846, rs61762303, rs2504539343, rs2504342839, rs2504540200 View all (36 more)	RCV001369910 RCV001377213 RCV001382935 RCV002569017 RCV001946738 RCV001954666 RCV001949259 RCV001981912 RCV001999954 RCV001866517 RCV002030627 RCV003062636 RCV003027954 RCV003059765 RCV003066285 RCV003059651 RCV001851775 RCV001390287 RCV000009873 RCV001221402 RCV003783608 RCV003783610 RCV003783613 RCV003783614 RCV003804058 RCV003812778 RCV000811926 RCV003766922 RCV001390286 RCV000555633 RCV000540760 RCV001387306 RCV001388236 RCV001059581 RCV000634835 RCV000634832 RCV000634834 RCV000696865 RCV000699765 RCV000689484 RCV000694754 RCV000785876 RCV000793127 RCV000793795 RCV000794013 RCV000806490 RCV000794859 RCV000802195 RCV000796195 RCV000794588 RCV000989228 RCV000989229 RCV003769402 RCV001051943 RCV001223493 RCV001206760 RCV001231564 RCV001387127
GTP cyclohydrolase I deficiency with hyperphenylalaninemia	Pathogenic; Likely pathogenic	rs104894443, rs104894445, rs2504539432	RCV004576896 RCV004576897 RCV004006222

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency	Conflicting classifications of pathogenicity	rs763294577	RCV000626091
Dopa-responsive dystonia	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs200891969, rs41298442, rs145762799, rs55885280, rs886050552, rs144676716, rs752359690, rs533240612, rs538405738	RCV000148506 RCV002255090 RCV000357388 RCV000365945 RCV000345565 RCV000306109 RCV000365863 RCV000314908 RCV000285962
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	Conflicting classifications of pathogenicity	rs56127440	RCV000148505
Intellectual disability	Conflicting classifications of pathogenicity	rs200891969, rs104894434, rs369661042	RCV005625324 RCV001260617 RCV005625672
See cases	Uncertain significance	rs890979460	RCV002252549
Thyroid cancer, nonmedullary, 1	Likely benign	rs2040583785	RCV005924354

Show/Hide Text Mining Associations (66)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Lung Injury	Stimulate	38071255
Acute Pain	Associate	30031848
Alzheimer Disease	Associate	29432188
Anemia Sickle Cell	Associate	24136375, 30031848
Anxiety	Associate	27871051
Anxiety Disorders	Associate	26945673
Atherosclerosis	Associate	21969008
Cardiovascular Diseases	Associate	24136375, 31082861, 36012132
Cerebral Infarction	Associate	21963893
Cerebral Palsy	Associate	21935284
Chorea	Associate	10631144
Chronic Pain	Associate	30031848
Cleft Lip	Associate	26215833
Cleft Palate	Associate	26215833, 31262291
Coronary Artery Disease	Associate	18598896, 21969008
Coronary Disease	Associate	20581851
Dementia	Associate	40617169
Diabetes Mellitus Type 2	Associate	25369080
Dyskinesia Drug Induced	Associate	34890878
Dystonia	Associate	24993959, 34221698, 34890878, 35041927, 40617169, 9328244
Dystonia 18	Associate	20187889
Dystonia Dopa responsive	Associate	10582612, 12023430, 18345435, 18587264, 18752196, 21935284, 23211702, 23762320, 25181484, 25634433, 28558098, 29405179, 30314816, 30894892, 33962918 View all (8 more)
Dystonia musculorum deformans type 1	Associate	9328244
Dystonic Disorders	Associate	10582612, 9576537
Facioscapulohumeral muscular dystrophy 1a	Associate	25369080
Fatigue	Associate	27720787, 32746945
Fibromyalgia	Associate	29486785
Gait Disorders Neurologic	Associate	18345435, 18752196
Genetic Diseases Inborn	Associate	18587264
Glioblastoma	Associate	36266731
Heart Diseases	Associate	25369080
Hermanski Pudlak Syndrome	Associate	9740249
Hyperkinesis	Associate	36054588
Hyperphenylalaninemia BH4 Deficient B	Associate	26215833
Hypertension	Associate	26778769
Immunologic Deficiency Syndromes	Associate	20187889
Inflammation	Associate	21969008, 31082861, 36012132
Lymphedema Congenital Recessive	Associate	10582612
Lymphoproliferative Disorders	Associate	34221698
Melanoma Cutaneous Malignant	Associate	36072600
Mental Disorders	Associate	29471261
Metabolic Diseases	Associate	28395739
Muscle Cramp	Associate	18752196, 34394914
Myoclonic dystonia	Associate	33349842
Neoplasm Metastasis	Associate	35261206
Neoplasms	Associate	18587264, 35261206
Neural Tube Defects	Associate	23059057
Neuroblastoma	Associate	11701761
Orofacial Cleft 1	Associate	26215833
Pain	Associate	22971341, 24136375, 25218601, 26945673, 30031848, 36395102
Parkinson Disease	Associate	24993959, 25634433, 27871051, 30314816, 32746945, 33349842, 33962918, 39801809, 40617169
Parkinson Disease Secondary	Associate	24993959, 25181484, 34999542
Phenylketonurias	Associate	23942198, 24705691, 26215833
Psychotic Disorders	Inhibit	29471261
Restless Legs Syndrome	Associate	20187889
Salivary Gland Diseases	Associate	36395102
Schizophrenia	Associate	29471261
Segawa syndrome autosomal recessive	Associate	18752196, 24993959, 26215833, 28366877
Signs and Symptoms	Associate	34394914
Sleep Apnea Obstructive	Associate	31819149
Sleep Wake Disorders	Associate	31819149
Somatoform Disorders	Associate	22971341
Spinocerebellar Ataxia 11	Associate	24136375
Stomach Neoplasms	Associate	35261206, 36196723
Vascular Diseases	Associate	18598896, 21969008
Zika Virus Infection	Associate	36572150

GCH1 (GTP cyclohydrolase 1)